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1
Irawati, Diah. "UNSUR BUDAYA MINANGKABAU DALAM NOVEL MENCARI CINTA YANG HILANG KARYA ABDULKARIM KHIARATULLAH". Diksa : Pendidikan Bahasa dan Sastra Indonesia 1, n. 2 (20 dicembre 2015): 53–64. http://dx.doi.org/10.33369/diksa.v1i2.3180.
Testo completoAbstract (sommario):
This research aims to describe (1) function of "maternal uncle" for his nephew (2) prohibition for the same tribe marriage (3) the function of maternal uncles for people in one tribe including in Novel "Mencari cinta yang Hilang" by Abdulkarim Khiaratullah. This research was qualitative research that used descriptive methode which had characteristic was conten analysis, that is a research which have done by examining a literature manuscript by looking at a piece of fact or dialog from the figure that purpose to knowing the element of minangkabau culture that including in novel. Technique of gathering data in this research use documentation technique and writing a note technique. Analysis result show that, first, in overal 'maternal uncle' describing in this novel is responsive and guiding his nephew, its according to rules, which 'maternal uncle' in Minangkabau People is very important to his nephew life. Only 'maternal uncle' from Rahima, Mak Katik which did not a right job. Second, problem about forbidding one tribe marriage is still a trouble on Minangkabau people life, that is reflected in novel that still find a polemic about forbidding one tribe wedding, tradition agreement which very compoting with one tribe marriage whom judging as marriage with own family, in other hand based on religion one tribe marriage is not forbidden thing. Third, this novel also reflect a figure of 'Niniak Mamak' in minangkabau people, there is finish tradition clash, in this novel 'niniak mamak' also finish a problem of one tribe marriage, which is Chaniago clan, on discussion which leading by Datuk Rangkayo Sati as people leader has a decision which a one tribe marriage between Fauzi and Rahima can not continued.
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Starkweather, Kathrine, e Monica Keith. "One piece of the matrilineal puzzle: the socioecology of maternal uncle investment". Philosophical Transactions of the Royal Society B: Biological Sciences 374, n. 1780 (15 luglio 2019): 20180071. http://dx.doi.org/10.1098/rstb.2018.0071.
Testo completoAbstract (sommario):
Maternal uncle relationships in which men invest resources (usually in the form of inheritance of material wealth) into their sisters' children are characteristic of matrilineal systems and hypothesized to arise under certain socioecological circumstances, but little research has systematically investigated conditions that are associated with this type of investment. We quantify relationships between household-level socioeconomic variables and different types of maternal uncle investment (direct care and indirect resource investment) within a bilateral, semi-nomadic population. Shodagor people of Bangladesh allow us to consider matrilineal behaviours in an evolutionary framework owing to their flexible social structure in which 39% of families receive some investment from a maternal uncle. Variables associated with direct maternal uncle care reflect the significance of maintaining consistent residence throughout the year and an increased need for childcare in families residing on boats versus those living on the land. Informative predictors of indirect investment indicate that a mother's birth history corresponds with more tangible contributions such as food and clothing. These results identify household-level variables specific to direct versus indirect maternal uncle investment, whereas having more older brothers or being firstborn increased the odds of a mother receiving any investment from brothers at all. Exploring these social and ecological associations in a bilateral, relatively flexible population unveils household circumstances that may lead to the development of female-biased kinship. This article is part of the theme issue ‘The evolution of female-biased kinship in humans and other mammals'.
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Durkin, Philip. "New Light on Early Middle English Borrowing from Anglo-Norman: Investigating Kinship Terms in grand‑". Anglia 137, n. 2 (7 giugno 2019): 255–77. http://dx.doi.org/10.1515/ang-2019-0024.
Testo completoAbstract (sommario):
Abstract It is well known that the set of kinship terms in Middle English showed considerable influence from French. In the case of aunt and uncle, this accompanied major restructuring of the system of kinship terms, as the Old English set of four distinct terms for paternal and maternal uncles and aunts were replaced by just two terms for ‘uncle’ and ‘aunt’, regardless of whether paternal or maternal. In comparison, the words for ‘grandfather’ and ‘grandmother’ have attracted little attention, as their story has appeared simpler: Old English had words for ‘grandfather’ and ‘grandmother’, irrespective of whether paternal or maternal, and so did Middle English. The terms are also similar in structure, with native terms in which words for ‘father’ or ‘mother’ are the head and eald ‘old’ is the modifier (whether in a compound or a phrasal structure) being replaced by borrowed terms (grandsire, granddame) or hybrid terms (grandfather, grandmother) in which French grand ‘big’ is the modifier. This paper shows that behind this apparently simple story there lurk some significant complications which point to considerable disruption and instability in the terms for ‘grandfather’ and ‘grandmother’ in both Middle English and French (with interesting and perhaps significant parallels also in other West Germanic languages). Consideration of these complications also casts new light on early lexical borrowing into Middle English from Anglo-Norman.
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Aggarwal, Sangita. "THE COMBINATION OF COLORS IN THE PAINTINGS (WITH SPECIAL REFERENCE TO THE PAINTER "RAJA RAVI VARMA")". International Journal of Research -GRANTHAALAYAH 2, n. 3SE (31 dicembre 2014): 1–2. http://dx.doi.org/10.29121/granthaalayah.v2.i3se.2014.3637.
Testo completoAbstract (sommario):
In the illustration, Rajaravivarma, the painter who created Rango's "Sparse Creating Property", was born on 29 April 1848 in Kilimannur. His painting interest was promoted by his maternal uncle, his uncle Rajavarma. Seeing his interest in painting, his maternal uncle was very happy and said, "Nothing comes from just teaching man." Some qualities are inherent in it. I will teach you to make colors, colors are made from leaves, flowers, chemical scenes, many castes and colored soils, but the artist has to find the color of his choice. "
चित्रण में रंगो की ‘‘ स्प्रेस क्रिएटिंग प्रापर्टी ’’ को रचने वाले चित्रकार राजारविवर्मा का जन्म 29 अप्रैल 1848 ई. में किलीमन्नूर में हुआ। उनकी चित्रकला रूचि को उनकी चित्रांकन रूचि उनके मामा राजवर्मा ने बढावा दिया। चित्रकला रूचि को देखकर उनके मामा अत्यंत प्रसन्नचित्त हुये और कहा कि ‘‘मनुष्य को केवल सिखा देने से कुछ नहीं आता। कुछ गुण उसमें पैदाइशी होते हैं। मैं तुझे रंग बनाना सिखाऊॅंगा, पत्ते, फूल, रासायनिक दृव्य अनेक जाति और रंग की मिट्टी आदि से रंग तैयार होते हैं, लेकिन अपनी मर्जी का रंग तो कलाकार को ही खोजना पड़ता है।’’
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Zhou, Rong-Fu, Xian Zhang, Jian Ouyang, Hong Tao, Xiao-Yan Shao, Jingyan Xu e Ping Li. "Molecular Diagnosis of Haemophilia B Leyden In a Chinese Pedigree: C>G Transition At Position +9 of the FIX Gene". Blood 118, n. 21 (18 novembre 2011): 4651. http://dx.doi.org/10.1182/blood.v118.21.4651.4651.
Testo completoAbstract (sommario):
Abstract Abstract 4651 Objective To investigate the molecular change causing Haemophilia B in a Chinese family. Methods The peripheral blood samples had been extracted from proband and his family members. The activated partial thromboplastin time (APTT), prothrombin time (PT) and FIX activity (FIX:C) were adopted for phenotype diagnosis. All the 8 exons and their flank boundaries were amplified by polymerase chain reaction (PCR). The PCR products were sequenced directly. The corresponding DNA fragments of their famliy members were amplified by PCR and then screeded by direct sequencing. Results The 3-year-old Chinese boy had persistent nose swelling for 10 days from an injury. He had a long APTT of 96.6s which could be corrected to 30.2s with mixed normal plasma. PT, TT and fibrogen level was in normal range, respectively. FVIII:C was 54%, FIX:C was 1.6% and AT:C was 115%. DNA sequencing of the proband’s F9 gene revealed that there was a C>G mutation at nt +9 in the promoter region. His mother, maternal grandmother and two maternal grandmother’s sisters all had the same C/G genotype, with FIX:C 44%, 89%, 81% and 67%, respectively. His maternal uncle, aged 30, had the C>G mutation with FIX:C 40% and another maternal uncle, aged 12, had the same mutation with FIX:C 4.2%. To date, there are only two cases with Haemophilia B Leyden reported from Asia, one from Thailand (nt +8 T>C) and the other from HongKong (nt +6 T>A). The mutation at nt +9 C>G lies in the binding sites for transactivating factors, such as CCAAT/enhancer binding protein (C/EBP), affects the first (site 1: nt +1 to +18) of five known cisacting sites in the FIX promoter. The clinical picture of the proband reported herein and his maternal uncle with the same genetic defect conforms to the Leyden phenotype, because the uncle now has a relatively normal FIX level (40%) and no recent bleeding episodes. Conclusion The mutation at nt +9 C>G in FIX promoter might be the causative one leading to FIX deficiency in this Chinese pedigree.To the best of our knowledge, this is the first time to report the mutation at this site of FIX promoter. Disclosures: No relevant conflicts of interest to declare.
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Bucci, Michael N., William F. Chandler, Stephen S. Gebarski e Paul E. McKeever. "Multiple Progressive Familial Thrombosed Arteriovenous Malformations". Neurosurgery 19, n. 3 (1 settembre 1986): 401–4. http://dx.doi.org/10.1227/00006123-198609000-00010.
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Abstract Thrombosed arteriovenous malformations initially diagnosed as low-grade gliomas in a child and her maternal uncle are presented. In both patients, there was progression of the disease as evidenced by the formation of new lesions at distant sites in the brain.
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Stoneley, Peter. "Sentimental Emasculations: Uncle Tom's Cabin and Black Beauty". Nineteenth-Century Literature 54, n. 1 (1 giugno 1999): 53–72. http://dx.doi.org/10.2307/2902997.
Testo completoAbstract (sommario):
This essay reassesses the notion of passionlessness in relation to debates on race and women's fiction. In nineteenth-century writing by white men and women, the primitive other-animal, black, or Indian-becomes the touchstone of intact maleness in a smothering and emasculatory culture. To write about blackness is to write about desire, but it is also to avoid desire altogether: the black figure represents both sexuality and childish innocence. There is the same contradiction as that between "dumb beasts" and "the Beast," between the helpless and the wicked. But in the implicitly emasculatory scenarios of women's writing, this essay detects a rejection of female as much as of male desire. Women's novels both facilitate and impede a consuming gaze. In repeated episodes, the black male body is exposed and punished, celebrated and lamented, in the same moment. Blackness threatens to call forth or desublimate white desire, and white writers move between the sexual allure of blackness and the need to reaffirm the superiority of white discipline. The emasculatory scenario serves as another opportunity to assert a Christian, maternal love, even if, to the other readers, this can seem an unconvincing "cover story" for the texts' secret "black" desire.
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GREEN, RICHARD, e E. B. KEVERNE. "The Disparate Maternal Aunt–Uncle Ratio in Male Transsexuals: an Explanation Invoking Genomic Imprinting". Journal of Theoretical Biology 202, n. 1 (gennaio 2000): 55–63. http://dx.doi.org/10.1006/jtbi.1999.1039.
Testo completo
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Shaikh, Fareeha, Marte Karoline Kjølllesdal, David Carslake, Camilla Stoltenberg, George Davey Smith e Øyvind Næss. "Birthweight in offspring and cardiovascular mortality in their parents, aunts and uncles: a family-based cohort study of 1.35 million births". International Journal of Epidemiology 49, n. 1 (20 luglio 2019): 205–15. http://dx.doi.org/10.1093/ije/dyz156.
Testo completoAbstract (sommario):
Abstract Background A link between suboptimal fetal growth and higher risk of cardiovascular disease (CVD) is well documented. It has been difficult to assess the contribution of environmental versus genetic factors to the association, as these factors are closely connected in nuclear families. We investigated the association between offspring birthweight and CVD mortality in parents, aunts and uncles, and examined whether these associations are explained by CVD risk factors. Methods We linked Norwegian data from the Medical Birth Registry, the Cause of Death Registry and cardiovascular surveys. A total of 1 353 956 births (1967–2012) were linked to parents and one maternal and one paternal aunt/uncle. Offspring birthweight and CVD mortality association among all relationships was assessed by hazard ratios (HR) from Cox regressions. The influence of CVD risk factors on the associations was examined in a subgroup. Results Offspring birthweight was inversely associated with CVD mortality among parents and aunts/uncles. HR of CVD mortality for one standard deviation (SD) increase in offspring birthweight was 0.72 (0.69–0.75) in mothers and 0.89 (0.86–0.92) in fathers. In aunts/uncles, the HRs were between 0.90 (0.86–0.95) and 0.93 (0.91–0.95). Adjustment for CVD risk factors in a subgroup attenuated all the associations. Conclusions Birthweight was associated with increased risk of CVD in parents and in aunts/uncles. These associations were largely explained by CVD risk factors. Our findings suggest that associations between offspring birthweight and CVD in adult relatives involve both behavioural variables (especially smoking) and shared genetics relating to established CVD risk factors.
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Talbot, George. "Alberto Moravia and Italian Fascism: Censorship, Racism and Le ambizioni sbagliate". Modern Italy 11, n. 2 (giugno 2006): 127–45. http://dx.doi.org/10.1080/13532940600709239.
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Alberto Moravia was an ambiguous figure for the Fascists. His first novel, Gli Indifferenti, was an international success, and was praised by Bottai. His second novel, Le ambizioni sbagliate, ran into difficulties with Fascist censorship. His maternal uncle was a member of Mussolini's government. His paternal first cousins were Carlo and Nello Rosselli. This essay explores Moravia's relations with the regime in the light of archival evidence, contemporary ‘revisions’ of his reputation and recent controversy over his letters to Ciano and Mussolini.
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Pandolfo, Massimo, Myriam Rai, Gauthier Remiche, Laurence Desmyter e Isabelle Vandernoot. "Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation". Neurology Genetics 6, n. 3 (9 aprile 2020): e420. http://dx.doi.org/10.1212/nxg.0000000000000420.
Testo completoAbstract (sommario):
ObjectiveTo describe the clinical and molecular genetic findings in a family segregating a novel mutation in the AIFM1 gene on the X chromosome.MethodsWe studied the clinical features and performed brain MRI scans, nerve conduction studies, audiometry, cognitive testing, and clinical exome sequencing (CES) in the proband, his mother, and maternal uncle. We used in silico tools, X chromosome inactivation assessment, and Western blot analysis to predict the consequences of an AIFM1 variant identified by CES and demonstrate its pathogenicity.ResultsThe proband and his maternal uncle presented with childhood-onset nonprogressive cerebellar ataxia, hearing loss, intellectual disability (ID), peripheral neuropathy, and mood and behavioral disorder. The proband's mother had mild cerebellar ataxia, ID, and mood and behavior disorder, but no neuropathy or hearing loss. The 3 subjects shared a variant (c.1195G>A; p.Gly399Ser) in exon 12 of the AIFM1 gene, which is not reported in the exome/genome sequence databases, affecting a critical amino acid for protein function involved in NAD(H) binding and predicted to be pathogenic with very high probability by variant analysis programs. X chromosome inactivation was highly skewed in the proband's mother. The mutation did not cause quantitative changes in protein abundance.ConclusionsOur report extends the molecular and phenotypic spectrum of AIFM1 mutations. Specific findings include limited progression of neurologic abnormalities after the first decade and the coexistence of mood and behavior disorder. This family also shows the confounding effect on the phenotype of nongenetic factors, such as alcohol and drug use and side effects of medication.
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Sander, Dorothea, Josef Schröder, Ines Schönbuchner, Julia Schreml, Sigrid Karrer, Mark Berneburg e Stephan Schreml. "Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq". Case Reports in Dermatology 8, n. 1 (30 gennaio 2016): 19–21. http://dx.doi.org/10.1159/000443695.
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A 50-year-old man presented with congenital scaling and hyperkeratosis on his palms, the soles of his feet and the extensor areas of his joints. The flexural areas were unaffected. His maternal grandmother, questionably his maternal uncle, his mother, all three brothers, one of his two sisters as well as two nephews and three nieces have or had similar skin changes. A punch biopsy was taken from the left palm. Clinical and histological signs led to the diagnosis of erythrodermia congenitalis ichthyosiformis bullosa of Brocq. We confirmed this genetically and found a heterozygous duplication (c.1752dupT) in the keratin 1 gene (KRT-1). To our knowledge, this is the first case of this skin condition reported in the literature with a heterozygous duplication (c.1752dupT) in KRT-1.
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Tankersley, Kenneth Barnett, e William Rex Weeks. "Red Bird and Sequoyah: A Reply to Simek et al." American Antiquity 85, n. 2 (aprile 2020): 383–87. http://dx.doi.org/10.1017/aaq.2020.4.
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Red Bird was a Cherokee murdered at the Red Bird River Petroglyph site (15Cy51) and buried at the Red Bird River Rockshelter (15Cy52) during the late eighteenth century, where he left an important record of traditional petroglyphs. His legacy is key to understanding the origins of Sequoyah's Cherokee Syllabary and its relationship to rock art. Personal testimonies of Red Bird's descendants are supported by primary documents and archaeological evidence, including the letters of Sequoyah's maternal uncle, John Watts, and prototypes of Cherokee Syllabary characters engraved at 15Cy52 in 1808, when members of Sequoyah's matrilineal family resided nearby.
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Pinar, Gul, e Ali Ayhan. "Carcinomas Associated With Lynch Syndrome: A Family History". International Surgery 96, n. 4 (1 ottobre 2011): 286–90. http://dx.doi.org/10.9738/cc15.1.
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Abstract Lynch syndrome is a rare and inherited defect disorder. People who have Lynch syndrome are strongly predisposed to develop colorectal cancer as well as several other types of cancer. The aim of this study was to explore features of ovarian cancers arising in families with Lynch syndrome. This study was a case report based on family history examining three patients with a new diagnosis of colorectal adenocarcinoma with ovarian cancer. Family members of carriers of the mutations were counseled, and those found to be at risk were offered mutation testing. The clinical criteria of the Amsterdam II guidelines for Lynch syndrome were used in this study. This is a maternal history of a 27-year-old woman sharing the destiny of her 48-year-old mother and 45-year-old aunt, both of which were suffering from Lynch syndrome associated with ovarian cancer. The maternal grandmother and maternal uncle of this young woman also suffered from colon cancer in their forties. The medical implications for the carrier relatives were considered as the maternal branch of the family.
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Fortunato, Laura. "The evolution of matrilineal kinship organization". Proceedings of the Royal Society B: Biological Sciences 279, n. 1749 (17 ottobre 2012): 4939–45. http://dx.doi.org/10.1098/rspb.2012.1926.
Testo completoAbstract (sommario):
Matrilineal kinship organization is a human social system that emphasizes interactions between matrilineal kin, i.e. individuals related only through females. The ‘matrilineal puzzle’ refers to the potential for tension characteristic of this social system, owing to the conflict between the interests and responsibilities of men in their roles as brother/uncle versus husband/father. From an evolutionary perspective, matrilineal kinship organization is puzzling when it diverts investment of resources from the individuals who provide the potentially highest reproductive returns. I use a game-theoretic framework to investigate a particular form of matrilineal inheritance—the transfer of property from a maternal uncle to a sororal nephew. The analysis reveals two mechanisms that may make this strategy a stable evolutionary outcome. First, a polygynous male has multiple wives, and hence multiple brothers-in-law; with matrilineal inheritance, each additional brother-in-law may transfer resources to the male's wife's offspring, thus potentially contributing to the male's inclusive fitness. Second, the husband of a polyandrous female is effectively ‘sharing’ paternity with other men; depending on the number of husbands, he may be better off investing in his sister's offspring. I conclude by discussing how these results address the challenges posed by the occurrence of matrilineal kinship organization.
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Koda, Yu Kar Ling, e Eliana Vidolin. "Familial hyperamylasemia". Revista do Hospital das Clínicas 57, n. 2 (2002): 77–82. http://dx.doi.org/10.1590/s0041-87812002000200006.
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A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood.
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Mannucci, P. M., C. Valsecchi, A. Krachmalnicoff, E. M. Faioni e A. Tripodi. "Familial Dysfunction of Protein S". Thrombosis and Haemostasis 62, n. 02 (1989): 763–66. http://dx.doi.org/10.1055/s-0038-1646898.
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SummaryWe describe a previously unreported defect of protein S characterized by low levels of cofactor activity for activated protein C contrasting with low normal levels of total and free protein S antigen. The distribution of protein S between the free form and the form complexed with the complement component C4b-binding protein was normal on two-dimensional immunoelectrophoresis. The proband developed juvenile deep-vein thrombosis while taking oral contraceptives. Her defect was transmitted in an autosomal dominant fashion from her asymptomatic mother. Other relatives carrying the same laboratory abnormality (mother, maternal uncle, two sisters and one brother) were also asymptomatic. We postulate that the defect is due to a dysfunctional protein S present in plasma in normal amounts and with normal proportions of the free and complexed forms of the protein.
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Watkins, Winifred M., e Kenneth D. Bagshawe. "Walter Thomas James Morgan CBE. 5 October 1900 – 10 February 2003". Biographical Memoirs of Fellows of the Royal Society 51 (gennaio 2005): 291–302. http://dx.doi.org/10.1098/rsbm.2005.0018.
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Walter Morgan's long and distinguished career followed modest beginnings in Islington, where he was born the second child of Walter Morgan and Anne Edith Morgan ( née James). To his children he recalled the street gas lamp lighters and the ‘knockers–up’ who tapped on workers’ bedroom windows with a long pole before alarm clocks were generally used. In some autobiographical notes he recalled his paternal grandfather who was a ‘Tipstaff’ for the Royal Courts of Justice and whose job was to take into custody nobility and persons ‘illustrious by rank’ when ordered to do so by a Judge of the High Court. On his maternal side an uncle became a chemist specializing in oils and fats who eventually spent most of his life in Borneo, where he discovered a vegetable poison that resulted in the development of the insecticide pyrethrum.
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Afzal, Mohammad, Syed Mubashir Ali e H. B. Siyal. "Consanguineous Marriages in Pakistan". Pakistan Development Review 33, n. 4II (1 dicembre 1994): 663–76. http://dx.doi.org/10.30541/v33i4iipp.663-676.
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In societies where marriage is nearly universal, and the fertility process is almost entirely through marital union, the factors associated with the occurrence of marriage, and through it the reproduction and rearing of children, need to be continuously assessed. Except for prohibited relationships, marriages between close and distant relations, as well as between those not related have been practiced among the muslims. The high incidence of close kin marriages (consanguineous marriages),t including those with first cousins, is a well-known feature of a muslim society. Marriages between close relatives are not only practiced by muslims but also by the people of many other religious. affiliations. Within the South Asian subcontinent, besides muslims, christians and other communities, consanguineous marriages have also been practiced by hindus, especially in the south Indian states, and in the central state of Maharashtra. In the northern states of India the prohibition on such marriages is more strictly enforced.2 In the south Indian state of Andhra a high proportion of maternal uncle-niece in addition to cross-cousin marriages (especially among maternal cross-cousins) have been in a high propor..........
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Wolf, Amparo, Huda Alghefari, Daria Krivosheya, Michael D. Staudt, Gregory Bowden, David R. Macdonald, Sharan Goobie, David Ramsay e Matthew O. Hebb. "Cerebellar liponeurocytoma: a rare intracranial tumor with possible familial predisposition. Case report". Journal of Neurosurgery 125, n. 1 (luglio 2016): 57–61. http://dx.doi.org/10.3171/2015.6.jns142965.
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The biological origin of cerebellar liponeurocytomas is unknown, and hereditary forms of this disease have not been described. Here, the authors present clinical and histopathological findings of a young patient with a cerebellar liponeurocytoma who had multiple immediate family members who harbored similar intracranial tumors. A 37-year-old otherwise healthy woman presented with a history of progressive headaches. Lipomatous medulloblastoma had been diagnosed previously in her mother and maternal grandfather, and her maternal uncle had a supratentorial liponeurocytoma. MRI revealed a large, poorly enhancing, lipomatous mass emanating from the superior vermis that produced marked compression of posterior fossa structures. An uncomplicated supracerebellar infratentorial approach was used to resect the lesion. Genetic and histopathological analyses of the lesion revealed neuronal, glial, and lipomatous differentiation and confirmed the diagnosis of cerebellar liponeurocytoma. A comparison of the tumors resected from the patient and, 22 years previously, her mother revealed similar features. Cerebellar liponeurocytoma is a poorly understood entity. This report provides novel evidence of an inheritable predisposition for tumor development. Accurate diagnosis and reporting of clinical outcomes and associated genetic and histopathological changes are necessary for guiding prognosis and developing recommendations for patient care.
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van der Gaag, R. D., H. Frisch, M. Weissel, G. Wick e H. A. Drexhage. "Congenital hypothyroidism in a Turkish family: the role of immunoglobulins blocking the trophic effects of TSH and maternal-foetal relationship". Acta Endocrinologica 111, n. 1 (gennaio 1986): 44–53. http://dx.doi.org/10.1530/acta.0.1110044.
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Abstract. A Turkish family with frequent intermarriages is described, in which two siblings were born with persistent forms of congenital hypothyroidism, in the elder child concomitant with absent radioactive thyroid imaging. The mother was clinically euthyroid throughout the period of observation, but showed in addition to thyroid microsomal antibodies, high levels of immunoglobulins blocking the trophic action of TSH. These maternal growth blocking antibodies were transiently present in the youngest of the siblings (from birth to 2 months of age). She had a relatively mild form of congenital hypothyroidism (T3: 33 μg/100 ml; T4: 3.9 μg/100 ml). The older sibling, with proven non-functioning thyroid tissue (negative thyroidscan, T4: 0.4 μg/100 ml) produced the growth-blocking immunoglobulins herself and may thus represent a juvenile form of thyroid autoimmunity with a very early onset. An aunt and uncle of the children, both hypothyroid since birth, were at the age of 19 and 18 years weakly positive for growth blocking immunoglobulins. This study indicates that familial forms of congenital hypothyroidism are probably complex and may be brought about by maternal to foetal passage of thyroid reactive autoantibodies, but also by the inheritance of a trait for thyroid autoimmunity. In some cases these two mechanisms might act in conjunction.
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Ripperger, Tim, Birgit Burkhardt, Fabian Hauck, Michael H. Albert, Kathrin Thomay, Marcin Wlodarski, Ayami Yoshimi et al. "Clinical Heterogeneity in RUNX1-Associated Familial Myelodysplastic Syndrome - Report of Two Novel Pedigrees with Childhoodleukemia". Blood 128, n. 22 (2 dicembre 2016): 5509. http://dx.doi.org/10.1182/blood.v128.22.5509.5509.
Testo completoAbstract (sommario):
Abstract RUNX1-associated familial leukemia is a rare hematologic malignancy. It is inherited in an autosomal dominant manner and mainly causes myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Since constitutional mutations in RUNX1 can lead to thrombocytopenia or dysfunctional platelets, the disease is termed familial platelet disorder with associated myeloid malignancies (FPDMM, MIM 601399). Here, we report two novel families with early onset MDS illustrating the variability of the disorder. The index patient (P1) of family 1 (Fig. 1A) was known to have asymptomatic thrombocytopenia (90 G/l) since his neonatal period. Platelet assays revealed impaired in vitro aggregation. Asymptomatic thrombocytopenia was also known in his younger sister, his mother and his maternal grandfather. A maternal uncle had died from leukemia at age 4. While P1 was treated with antibiotics for a middle ear infection, he developed petechiae and hematoma. He was found to have a platelet count of 11 G/l with a normal white blood count (WBC), hemoglobin concentration (Hb) and MCV. Bone marrow investigations led to the diagnosis of MDS with excess blasts (MDS-EB) with normal karyotype. Sequencing of RUNX1 identified a heterozygous truncating RUNX1 mutation in P1 that was also present in his mother: c.90_117dup; p.(Leu40AlafsX80). P1 underwent hematopoietic stem cell transplantation (HSCT) from a matched unrelated donor (MUD) following a preparative regimen consisting of busulfan, cyclophosphamide and melphalan (BuCyMel). He is alive and well 4 years post HSCT. Two years after his diagnosis, a 17-year-old maternal uncle of P1 (P2) was also diagnosed with MDS-EB with normal karyotype. Successively, the disorder progressed to AML and karyotyping showed a clonal derivative chromosome 7 due to an unbalanced translocation der(7)t(2;7)(p12;q21), and later on, a clonal evolution with trisomy 12. RUNX1 sequencing indicated that P2 also carries the familial RUNX1 mutation. Finally, the causative RUNX1 mutation was also identified in the younger sister and two further maternal uncles, all showing mild, asymptomatic thrombocytopenia without evidence of malignant transformation. In the second family (Fig. 1B), the male index patient (P3) had congenital, asymptomatic thrombocytopenia with subsequent platelet counts of 60-80 G/l. At age 3.5, platelet count declined over several months reaching values of 3-20 G/l. WBC, Hb and MCV were normal. The patient had recurrent nose bleeds and prolonged bleeding after cuts and blood drawing. Diagnostic bone marrow examination showed MDS-EB with normal karyotype. Since, thrombocytopenia was also known in P3's mother, RUNX1 was sequenced and showed a typical heterozygous truncating mutation in P3 and his mother: c.415C>T; p.(Arg139X). The mutation was absent in P3's brother. At age 16, a maternal aunt of P3 had died due to a cervical cancer. Her DNA was not available for testing. P3 received a MUD HSCT following a BuCyMel preparative regimen and is alive and well 2 years post HSCT. These two new pedigrees with germline RUNX1 mutation emphasize a few interesting points. For both index patients the history of familial thrombocytopenia had been known since birth, but genetic work-up was only initiated after the platelet count had rapidly decreased and bleeding had become obvious. At the time of genetic confirmation, MDS-EB had to be diagnosed despite normal values and blood morphology for white cells and red cells. Thus, decreasing platelet counts in patients with known RUNX1 germline mutations or long-standing thrombocytopenias of unknown cause should result in prompt bone marrow examination, even in the absence of other signs or symptoms suspicious of hematopoietic neoplasia. Furthermore, the platelet count might be a suitable screening instrument in surveillance of patients known to carry germline RUNX1 mutations. Although both index patients had been successfully transplanted following a standard myeloablative regimen, earlier diagnosis of MDS might have saved toxicity and late effects. With our current knowledge of myeloid neoplasms with germline predisposition and pre-existing platelet disorders, children with thrombocytopenia and a family history should have complete genetic work-up for currently known alterations. Consensus guidelines need to be developed by specialists in hematology/oncology, coagulation, general pediatrics and human genetics. Figure 1 Pedigrees Figure 1. Pedigrees Disclosures No relevant conflicts of interest to declare.
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Kövesdi, Erzsébet, Kinga Hadzsiev, Katalin Komlósi, Mária Kassay, Péter Barsi e Béla Melegh. "Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis". Orvosi Hetilap 154, n. 23 (giugno 2013): 914–18. http://dx.doi.org/10.1556/oh.2013.29634.
Testo completoAbstract (sommario):
Tuberous sclerosis is an autosomal dominant disorder, caused by mutations of the TSC1 or TSC2 genes resulting in tumor predisposition. Clinical signs include non-malignant brain tumors, skin, eye, heart and kidney abnormalities. The authors report a Hungarian family with broad phenotypic variability. First, the 5-year-old boy, showing the most symptoms was examined, whose first seizure occurred at 15 months and a cranial magnetic resonance imaging revealed numerous intracerebral calcareous foci. Except of hypopigmented skin spots, no other abnormality was found on physical examination. The mother was completely asymptomatic. Epilepsy of the maternal uncle started at the age of 3 years, of his sister at the age of 17 years and of the maternal grandmother at the age of 39 years. At the age of 52 years the grandmother developed renal cysts. Molecular genetic analysis of the family confirmed a de novo heterozygous point mutation (c.2523 C\>T) in exon 20 of the TSC1 gene. The mutation was detected in all examined family members. Despite increasing data on the pathomechanism of tuberous sclerosis, there is still little known about the genetic modifying factors influencing the broad intra- and interfamilial phenotypic variability. Orv. Hetil., 2013, 154, 914–918.
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Jennings, Juliet E., Marianthi Georgitsi, Ian Holdaway, Adrian F. Daly, Maria Tichomirowa, Albert Beckers, Lauri A. Aaltonen, Auli Karhu e Fergus J. Cameron. "Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene". European Journal of Endocrinology 161, n. 5 (novembre 2009): 799–804. http://dx.doi.org/10.1530/eje-09-0406.
Testo completoAbstract (sommario):
ObjectiveMutations in the aryl hydrocarbon receptor-interacting protein (AIP) were recently shown to confer a pituitary adenoma predisposition in patients with familial isolated pituitary adenomas (FIPA). We report a large Samoan FIPA kindred from Australia/New Zealand with an R271W mutation that was associated with aggressive pituitary tumors.Design and methodsCase series with germline screening of AIP and haplotype analyses among R271W families.ResultsThis previously unreported kindred consisted of three affected individuals that either presented with or had first symptoms of a pituitary macroadenoma in late childhood or adolescence. The index case, a 15-year-old male with incipient gigantism and his maternal aunt, had somatotropinomas, and the maternal uncle of the index case had a prolactinoma. All tumors were large (15, 40, and 60 mm maximum diameter) and two required transcranial surgery and radiotherapy. All three affected subjects and ten other unaffected relatives were found to be positive for a germline R271W AIP mutation. Comparison of the single nucleotide polymorphism patterns among this family and two previously reported European FIPA families with the same R271W mutation demonstrated no common ancestry.ConclusionsThis kindred exemplifies the aggressive features of pituitary adenomas associated with AIP mutations, while genetic analyses among three R271W FIPA families indicate that R271W represents a mutational hotspot that should be studied further in functional studies.
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Herrera, BM, MZ Cader, DA Dyment, JT Bell, GC DeLuca, CJ Willer, MR Lincoln et al. "Multiple sclerosis susceptibility and the X chromosome". Multiple Sclerosis Journal 13, n. 7 (agosto 2007): 856–64. http://dx.doi.org/10.1177/1352458507076961.
Testo completoAbstract (sommario):
Multiple sclerosis (MS) is a chronic autoimmune complex trait with strong evidence for a genetic component. A female gender bias is clear but unexplained and a maternal parent-of-origin effect has been described. X-linked transmission of susceptibility has been previously proposed, based on pedigree, association and linkage studies. We genotyped 726 relative pairs including 552 affected sib-pairs for 22 X-chromosome microsatellite markers and a novel dataset of 195 aunt-uncle/niece-nephew (AUNN) affected pairs for 18 markers. Parent-of-origin effects were explored by dividing AUNN families into likely maternal and paternal trait transmission. For the sib-pair dataset we were able to establish exclusion at a λ s = 1.9 for all markers using an exclusion threshold of LOD ≤—2. Similarly for the AUNN dataset, we established exclusion at λAV = 1.9. For the combined dataset we estimate exclusion of λ = 1.6. We did not identify significant linkage in either the sib-pairs or the AUNN dataset nor when datasets were stratified for the presence/absence of the HLA-DRB1*15 allele or for paternal or maternal transmission. This comprehensive scrutiny of the X-chromosome suggests that it is unlikely to harbour an independent susceptibility locus or one which interacts with the HLA. Complex interactions including epigenetic ones, and masking by balanced polymorphisms are mechanisms not excluded by the approach taken. Multiple Sclerosis 2007; 13 : 856—864. http://msj.sagepub.com
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Holt, P. M. "The Īlkhān Aḥmad's embassies to Qalāwūn: two contemporary accounts". Bulletin of the School of Oriental and African Studies 49, n. 1 (febbraio 1986): 128–32. http://dx.doi.org/10.1017/s0041977x00042543.
Testo completoAbstract (sommario):
With the accession of Tegüder, alias Ahmad, on the death of his brother Abaqa in 681/1282, the Īlkhānate was for the first time ruled by a Muslim. Consequently the possibility appeared of the establishment of peaceful relations with the rival Mamlūk sultanate under al-Manṣūr Qalāwūn (regn. 678–89/1279–90). Two successive embassies were in fact sent to the sultan during Ahmad's short reign, and accounts of these as seen in Mamlūk court circles are extant in the writings of two contemporaries. The first appears in the largely unpublished biography of Qalāwūn, al-Fadl al-ma'thūr min sīrat al-Malik al-Mansūr by Shāf‚’ b. ‘Alī (649–730/1252–1330), and the second in the published but incomplete biography, Tashrīf al-ayyām wa'l-‘usūr fi sīrat al-Malik al-Mansūr by the maternal uncle of Shāfi'b. ‘Alī, Muhyī al-Dīn Ibn ‘Abd al-Zāhir (620–92/1223–92). Both writers served in the chancery of the sultan in Cairo.
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Najafi, Kimia, Roxana Kariminejad, Kaveh Hosseini, Azadeh Moshtagh, Gole Maryam Abbassi, Neda Sadatian, Masood Bazrgar, Ariana Kariminejad e Mohamad Hassan Kariminejad. "Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis". Case Reports in Genetics 2017 (2017): 1–4. http://dx.doi.org/10.1155/2017/2706098.
Testo completoAbstract (sommario):
Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly, nystagmus, and spastic paraplegia. Similar clinical findings were reported in his older brother and maternal uncle. Both parents had normal phenotypes. OA-CGH was performed and a 436 Kb duplication was detected and the diagnosis of PMD was made. The mother was carrier of this 436 Kb duplication. Conclusion. Clinical presentation has been accepted as being the mainstay of diagnosis for most conditions. However, recent developments in genetic diagnosis have shown that, in many congenital and sporadic disorders lacking specific phenotypic manifestations, a genotype-to-phenotype approach can be conclusive. In this case, a diagnosis was reached by universal genomic testing, namely, whole genomic array.
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Hartanti, Ani. "PERILAKU CARE GIVER DALAM PENGOBATAN ARV PADA ANAK DENGAN HIV/ AIDS". Jurnal Kebidanan 9, n. 01 (7 luglio 2017): 43. http://dx.doi.org/10.35872/jurkeb.v9i01.307.
Testo completoAbstract (sommario):
ABSTRAKDi Indonesia, infeksi HIV merupakan salah satu masalah kesehatan utama dan salah satu penyakit menular yang dapat mempengaruhi kematian ibu dan anak. Pengidap HIV/AIDS di Indonesia dari tahun ketahun terus mengalami peningkatan. Tidak sedikit pengidap virus mematikan ini adalah mereka yang masih tergolong anak-anak, yaitu yang berusia antara delapan hingga delapan belas tahun. Tujuan dalam penelitian ini untuk menganalisis perilaku care giver dalam pengobatan ARV pada anak dengan HIV/AIDS, yang meliputi: Karakteristik responden, pengetahuan, sikap, tradisi kepercayaan, akses terhadap pelayanan CST, dukungan tenaga kesehatan, dukungan keluarga, dan dukungan teman sebaya. Metode penelitian adalah kualitatif dengan pendekatan studi kasus. Melalui wawancara mendalam dan focus group discussion. Subjek penelitian ini adalah care giver yaitu 4 orang ibu dan 1 orang paman. Analisis berdasarkan tema (thematic content analysis). Hasil penelitian menunjukkan bahwa 4 informan merupakan ibu dari anak dengan HIV/AIDS dan 1 informan adalah paman dari anak dengan HIV/AIDS. Usia anak dengan HIV antara 23 bulan - 13 tahun. Tidak ada perbedaan pengetahuan care giver tentang pengobatan ARV antara anak yang diasuh oleh ibu dan yang diasuh oleh paman. Ada perbedaan antara sikap informan dan keluarga antara anak balita dengan anak usia sekolah. Tidak ada perbedaan akses pelayanan anak dengan HIV/AIDS antara anak yang diasuh oleh ibu dan yang diasuh oleh paman. Perilaku care giver dalam pengobatan ARV dapat terkendala oleh keterjangkauan fasilitas pelayanan kesehatan, pekerjaan care giver serta hubungan keluarga care giver dengan anak dengan HIV/AIDS.Dukungan petugas kesehatan, keluarga, dan teman sebaya diberikan dengan memberikan pelayanan dan konseling dengan baik, selain itu keluarga juga memberikan dukungan moral dan spiritual kepada anak dengan HIV∕AIDS. Kata Kunci : Pengobatan ARV, HIV/ AIDS CARE GIVER BEHAVIOR IN ARV TREATMENT FOR CHILDREN WITH HIV / AIDSABSTRACTIn Indonesia, HIV infection is one of the major health problems and an infectious disease that can affect maternal and child mortality. People living with HIV / AIDS in Indonesia from year to year continue to increase. Not a few people with this deadly virus are those who are still classified as children, which are aged between eight to eighteen years. The objectives of this study were to analyze the behavior of care giver in the treatment of antiretroviral drugs in children with HIV / AIDS, which include: Respondent characteristics, knowledge, attitudes, traditions of trust, access to CST services, support of health workers, family support, and peer support. The research method is qualitative with case study approach. Through in-depth interviews and focus group discussions. Subject of this research is care giver that is 4 mother and 1 person uncle. The thematic content analysis. The results showed that 4 informants were mothers of children with HIV / AIDS and 1 informant was uncle of child with HIV / AIDS. Age of children with HIV between 23 months - 13 years.There is no difference in the care giver knowledge of ARV treatment between the child being cared for by the mother and being cared for by the uncle. There is a difference between informant and family attitudes between toddlers and school-aged children. There is no difference in the access of child labor with HIV / AIDS between the child being cared for by the mother and being cared for by the uncle. Care giver behavior in antiretroviral treatment can be constrained by the affordability of health care facilities, care giver work and care giver family relationships with children with HIV / AIDS. Support from health, family, and peers is provided by providing services and counseling well, and the family also provides moral and spiritual support to children with HIV / AIDS. Keywords: ARV Treatment, HIV/AIDSABSTRAKDi Indonesia, infeksi HIV merupakan salah satu masalah kesehatan utama dan salah satu penyakit menular yang dapat mempengaruhi kematian ibu dan anak. Pengidap HIV/AIDS di Indonesia dari tahun ketahun terus mengalami peningkatan. Tidak sedikit pengidap virus mematikan ini adalah mereka yang masih tergolong anak-anak, yaitu yang berusia antara delapan hingga delapan belas tahun. Tujuan dalam penelitian ini untuk menganalisis perilaku care giver dalam pengobatan ARV pada anak dengan HIV/AIDS, yang meliputi: Karakteristik responden, pengetahuan, sikap, tradisi kepercayaan, akses terhadap pelayanan CST, dukungan tenaga kesehatan, dukungan keluarga, dan dukungan teman sebaya. Metode penelitian adalah kualitatif dengan pendekatan studi kasus. Melalui wawancara mendalam dan focus group discussion. Subjek penelitian ini adalah care giver yaitu 4 orang ibu dan 1 orang paman. Analisis berdasarkan tema (thematic content analysis). Hasil penelitian menunjukkan bahwa 4 informan merupakan ibu dari anak dengan HIV/AIDS dan 1 informan adalah paman dari anak dengan HIV/AIDS. Usia anak dengan HIV antara 23 bulan - 13 tahun. Tidak ada perbedaan pengetahuan care giver tentang pengobatan ARV antara anak yang diasuh oleh ibu dan yang diasuh oleh paman. Ada perbedaan antara sikap informan dan keluarga antara anak balita dengan anak usia sekolah. Tidak ada perbedaan akses pelayanan anak dengan HIV/AIDS antara anak yang diasuh oleh ibu dan yang diasuh oleh paman. Perilaku care giver dalam pengobatan ARV dapat terkendala oleh keterjangkauan fasilitas pelayanan kesehatan, pekerjaan care giver serta hubungan keluarga care giver dengan anak dengan HIV/AIDS.Dukungan petugas kesehatan, keluarga, dan teman sebaya diberikan dengan memberikan pelayanan dan konseling dengan baik, selain itu keluarga juga memberikan dukungan moral dan spiritual kepada anak dengan HIV∕AIDS. Kata Kunci : Pengobatan ARV, HIV/ AIDS CARE GIVER BEHAVIOR IN ARV TREATMENT FOR CHILDREN WITH HIV / AIDSABSTRACTIn Indonesia, HIV infection is one of the major health problems and an infectious disease that can affect maternal and child mortality. People living with HIV / AIDS in Indonesia from year to year continue to increase. Not a few people with this deadly virus are those who are still classified as children, which are aged between eight to eighteen years. The objectives of this study were to analyze the behavior of care giver in the treatment of antiretroviral drugs in children with HIV / AIDS, which include: Respondent characteristics, knowledge, attitudes, traditions of trust, access to CST services, support of health workers, family support, and peer support. The research method is qualitative with case study approach. Through in-depth interviews and focus group discussions. Subject of this research is care giver that is 4 mother and 1 person uncle. The thematic content analysis. The results showed that 4 informants were mothers of children with HIV / AIDS and 1 informant was uncle of child with HIV / AIDS. Age of children with HIV between 23 months - 13 years.There is no difference in the care giver knowledge of ARV treatment between the child being cared for by the mother and being cared for by the uncle. There is a difference between informant and family attitudes between toddlers and school-aged children. There is no difference in the access of child labor with HIV / AIDS between the child being cared for by the mother and being cared for by the uncle. Care giver behavior in antiretroviral treatment can be constrained by the affordability of health care facilities, care giver work and care giver family relationships with children with HIV / AIDS. Support from health, family, and peers is provided by providing services and counseling well, and the family also provides moral and spiritual support to children with HIV / AIDS. Jurnal Kebidanan, Vol. IX, No. 01, Juni 2017 43 Keywords: ARV Treatment, HIV/AID
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Iovanescu, Maria Livia, Andreea Sorina Marcu, Cristian Militaru, Octavian Istratoaie, Ioana Gheonea e Sebastian Militaru. "Fully penetrant genetic mutation results in wide familial variability: a cardiac magnetic resonance focused report". Romanian Journal of Cardiology 31, n. 1 (31 marzo 2021): 129–35. http://dx.doi.org/10.47803/rjc.2021.31.1.129.
Testo completoAbstract (sommario):
Dilated cardiomyopathy (DCM) is a myocardial disorder characterized by ventricular dilation (LV or biventricular) and systolic dysfunction, with a broad etiological spectrum, comprising numerous genetic and non-genetic causes. Cardiac magnetic resonance (CMR) has become an important tool in guiding the etiological diagnosis in DCM. We present the case of a 37-years old man admitted to our department in order to investigate the diagnosis of DCM using CMR. Cine imaging showed mild left ventricular (LV) dilatation and moderate systolic (LV ejection fraction = 42%) dysfunction, but also apical hypertrabeculation meeting the criteria for non-compaction and late gadolinium enhancement (LGE) images revealed mid-wall fibrosis in the basal and midventricular segments of the inferior interventricular septum (IVS) – typical of non-ischemic DCM. Complete family history revealed the diagnosis of DCM in the mother of the patient and in the maternal grandfather, who had died at 87. After genetic testing of the index patient showed a pathogenic mutation in the TTN (titin) gene (c.79273A>T), cascade genetic testing followed, for his mother, sister, uncle and two cousins who all came back positive for the same mutation. CMR examination of the mother done 6 years prior demonstrated severe LV dilatation and systolic dysfunction (LV ejection fraction = 23%), LV non-compaction and mid-wall IVS fi brosis. CMR examination was performed for the other members of the family and discovered pathological findings in the uncle (normal LV volume and function, but focal mid-wall fi brosis in the inferior IVS) and the male cousin (LV non- compaction), while the female cousin had a normal exam. Using CMR and genetic testing, this case report proves the phenotypic heterogenicity of a completely penetrant titin mutation in the same family. Moreover, CMR is shown to be essential in DCM evaluation, having the ability to guide etiologic diagnosis and to detect alterations such as fibrosis and non-compaction in the absence of LV dilation or dysfunction.
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Ichikawa, Shoji, Kenneth W. Lyles e Michael J. Econs. "A Novel GALNT3 Mutation in a Pseudoautosomal Dominant Form of Tumoral Calcinosis: Evidence That the Disorder Is Autosomal Recessive". Journal of Clinical Endocrinology & Metabolism 90, n. 4 (1 aprile 2005): 2420–23. http://dx.doi.org/10.1210/jc.2004-2302.
Testo completoAbstract (sommario):
Abstract Familial tumoral calcinosis is a rare metabolic disorder, characterized by ectopic calcification and hyperphosphatemia. Recently biallelic mutations in the GalNAc transferase 3 (GALNT3) gene were identified in two families with tumoral calcinosis. In the present study, we performed mutation analysis of the GALNT3 gene in a multigenerational family, which was originally described to have an autosomal dominant form of tumoral calcinosis. We identified a novel splice site mutation in intron 1 (IVS1–2a→t), likely leading to skipping of exon 2. The proband was a compound heterozygote for the splice site mutation and the previously reported nonsense mutation (484C→T; R162X). His affected maternal great uncle was homozygous for the splice site mutation. Biallelic mutations found in two generations demonstrated that the family had pseudoautosomal dominant inheritance, confirming that tumoral calcinosis is in fact an autosomal recessive trait. However, genetic and biochemical findings suggest that carriers of a single mutation may also manifest subtle biochemical abnormalities. Furthermore, coexpression of GALNT3 and fibroblast growth factor 23 (FGF23), a key regulator of phosphate homeostasis, in certain tissues suggests that O-glycosylation of FGF23 by GALNT3 may be necessary for proper function of FGF23.
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Secchi, Luciana A. de A., Juliana F. Mazzeu, Mara Santos Córdoba, Íris Ferrari, Helton Estrela Ramos e Francisco de Assis Rocha Neves. "Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)". Arquivos Brasileiros de Endocrinologia & Metabologia 56, n. 8 (novembre 2012): 564–69. http://dx.doi.org/10.1590/s0004-27302012000800017.
Testo completoAbstract (sommario):
Genetic defects resulting in deficiency of thyroid hormone synthesis can be found in about 10% of the patients with permanent congenital hypothyroidism, but the identification of genetic abnormalities in association with the transient form of the disease is extremely rare. We report the case of a boy with transient neonatal hypothyroidism that was undiagnosed in the neonatal screening, associated with extrathyroid malformations and mental retardation. The boy carries an unbalanced translocation t(8;16), and his maternal uncle had a similar phenotype. Chromosomal analysis defined the patient's karyotype as 46,XY,der(8)t(8;16)(q24.3;q22)mat,16qh+. Array-CGH with patient's DNA revealed a ~80 kb terminal deletion on chromosome 8q24.3qter, and a ~21 Mb duplication on chromosome 16q22qter. ZNF252 gene, mapped to the deleted region on patient's chromosome 8, is highly expressed in the thyroid, and may be a candidate gene for our patient's transient neonatal thyroid dysfunction. This is the first report on the association of a chromosomal translocation with the transient form of congenital hypothyroidism. This description creates new hypothesis for the physiopathology of transient congenital hypothyroidism, and may also contribute to the definition of the unbalanced translocation t(8;16)(q24.3;q22) phenotype, which has never been described before. Arq Bras Endocrinol Metab. 2012;56(8):564-9
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Vaidya, Tanvi P., Ramesh M. Bhat e Sukumar Dandekeri. "An unusual case of bullae and scars". International Journal of Research in Dermatology 6, n. 1 (23 dicembre 2019): 125. http://dx.doi.org/10.18203/issn.2455-4529.intjresdermatol20195688.
Testo completoAbstract (sommario):
<p align="center">The term epidermolysis bullosa (EB) encompasses a group of inherited mechano-bullous disorders, clinically characterized by blisters over skin and mucosae following minor frictional trauma. The diagnosis is predominantly clinical, but further classification is carried out by defining the histological level of the split. Histopathology tends to be ambiguous, as it was in this case. Our case is of a twelve-year-old male child who came with complaints of recurrent painful fluid filled lesions all over the body since 10 days of birth, aggravated by trauma, with exacerbations in the summer, and with a history of similar lesions in the mother and maternal uncle. On examination, there were multiple flaccid bullae, crusted erosions, scars and milia over trauma prone sites, such as the elbows, back, knees, shins and knuckles, with nail dystrophy and pitting of the teeth. The clinical impression as well as histopathology suggested a dominant dystrophic or a junctional EB, but immunofluorescence antigen mapping revealed it to be a case of EB simplex. We must thus bear in mind that histopathology is not definitive in EB, and immunofluorescence antigen mapping or transmission electron microscopy is imperative to correctly diagnose it.</p>
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Adams, Kimberly VanEsveld. "From Stabat Pater to Prophetic Virgin: Harriet Beecher Stowe's Recovery of the Madonna-Figure". Religion and the Arts 13, n. 1 (2009): 81–121. http://dx.doi.org/10.1163/156852908x388340.
Testo completoAbstract (sommario):
AbstractThis study of Harriet Beecher Stowe's Madonna-figures questions some influential arguments about the novelist's treatment of motherhood and domesticity. Critics such as Jane Tompkins, Elizabeth Ammons, and Gillian Brown have claimed that the novels privilege an alternative maternal culture and may even present the Christian Savior in feminized terms. But the early novels in fact reveal the gender restrictions of nineteenth-century Protestantism, which allowed no sanctified female roles. Uncle Tom's Cabin and Dred, for example, have Christ-figures but no Madonnas. Stowe's travels overseas, which exposed her to European religious art, and her gradual movement from the Congregational to the Episcopal church (documented by John Gatta), had a profound impact on two subsequent novels, The Minister's Wooing and Agnes of Sorrento. Here, for the first time, female characters are made Madonna-figures. But the novelist presents them as contemplative saints and prophetic virgins, rather than as mothers. Only in her late religious writings does Stowe portray the biblical Mary as not only prophet and poet but also mother—and then in an inimitable way. In The Minister's Wooing and Agnes as well as her religious writings, Stowe examines the New Testament sisters Martha and Mary of Bethany, who in church tradition represent, respectively, the active and the contemplative life. These discussions reveal the conflict the author experienced between her domestic responsibilities and artistic vocation, and her misgivings about many of the maternal characters found throughout her fiction. Stowe's contemplative and creative Mary-figures include Mary Scudder, Agnes, and the Virgin Mary herself. The contrasting Martha-figures are domestic geniuses but have “worldly” values, which sometimes threaten their daughters' happiness. These Marthas, who are increasingly subjected to authorial criticism, suggest some needed qualifications of arguments for the consistently positive valence of motherhood and domesticity in Stowe.
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Namsaraeva, Sayana. "The Metaphorical Use of Avuncular Terminology in Buriad Diaspora Relationships with Homeland and Host Society". Inner Asia 12, n. 2 (2010): 201–30. http://dx.doi.org/10.1163/000000010794983540.
Testo completoAbstract (sommario):
AbstractThe significance of the kinship relationship between the mother's brother and sister's son (avunculate) was one of the most discussed topics in the history of social anthropology. Two theories of pre-Schneiderian age – descent and alliance approaches – both consider avuncular relations as being tense and contradictive, associated with certain privileges of the maternal uncle and his senior hierarchical position in relation to Ego. This paper tries to establish the relevance of this classical anthropological theme to contemporary social and political realities in Buriad society, specifically to extend the discussion of the classificatory/metaphorical use of avuncular kinship terminology to a new context – that of diaspora relationships with homeland and host society. A recent tendency in kinship studies argues that kinship terminology can be employed flexibly to handle relationships of various kinds, and suggests that kinship terms should often be understood as referring to a kind of social relationship rather than to a specifically genealogical connection. Two cases, which I present in the paper, show how Buriad diaspora communities in Mongolia and Inner Mongolia (China) involve the avuncular relationship to define their concerns and tensions in relation both to colonisers in the homeland in Russia and to the social inequality of migrants in their host societies. This local phenomenon shows that kinship terminology continues to have a wider social significance, being used, for example, to express current inequalities of power and the impact of political changes on local experience.
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Lee, Youjung, e Sok An. "GRANDPARENTS RAISING GRANDCHILDREN IN KOREA: CULTURAL UNDERSTANDING OF MULTIGENERATIONAL CAREGIVING". Innovation in Aging 3, Supplement_1 (novembre 2019): S486. http://dx.doi.org/10.1093/geroni/igz038.1804.
Testo completoAbstract (sommario):
Abstract Korean grandparents raising their grandchildren play significant roles as social and family resources in Korea. They experience caregiving stress that negatively influences their mental health while struggling with limited social support from peers, and minimal respite care and community resources. Despite a need for resources and information concerning this growing population, there is limited knowledge on Korean custodial grandparents, especially the distinctive cultural factors influencing their multigenerational caregiving experiences. This qualitative study explored Korean custodial grandparents’ experiences of raising grandchildren and cultural meanings of multigenerational caregiving. Using a phenomenological approach, semi-structured interviews with 23 custodial grandparents were conducted from December 2018- January 2019 in two urban and three rural places in Korea. Among the grandparents, five were grandfathers. The mean age of the grandparents was 72 years old (range: 61-82), and the mean age of their grandchildren was 13 years old (range: 1-21). On average, the grandparents had raised 1.5 grandchildren (range: 1-3) for 11 years (range: 1.5-20). Four key themes emerged from the general structure of the lived experiences of Korean grandparents: a) intensive child care support from the grandchildren’s uncle and aunt; (b) stigma of a child’s divorce and custodial grandparenting; (c) different social expectations toward maternal grandparents; and (d) increased needs on financial educational support for grandchildren. The finding reinforces the significant function of collectivistic and family-based Asian culture in understanding experiences of Korean custodial grandparents. It also highlights society’s view of only men carrying forward family lineage and its implications on grandparents’ perceptions about multigenerational caregiving.
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Parikh, Akanksha C., e Pradnya Gadgil. "Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene". Journal of Child Science 11, n. 01 (gennaio 2021): e45-e48. http://dx.doi.org/10.1055/s-0041-1724042.
Testo completoAbstract (sommario):
AbstractLowe syndrome (LS) is a rare X-linked condition having a clinical triad of congenital cataracts, intellectual disability, and progressive tubular nephropathy. Although the easily recognizable symptom complex usually evolves by infancy, a unifying diagnosis is often missed. We present a young boy with a prolonged history of multisystem affection, finally leading to the clinical suspicion of LS. The diagnosis was confirmed on genetic analysis as well as a previously unreported mutation in the OCRL gene was discovered. A 9-year-old boy with intellectual disability and recent onset seizures was referred for the evaluation of rickets. In addition, there was a significant past history of neonatal cataracts, infantile glaucoma, persistent albuminuria, and severe short stature with growth hormone deficiency. The characteristic involvement of eyes, brain, and kidneys along with a family history of a maternal uncle being similarly affected led to the clinical suspicion of LS. A whole exome sequencing was performed, which not only confirmed a nonsense mutation, c.2530C > T, in exon 23 of the Lowe gene (OCRL) but also revealed it to be a novel pathogenic variant. This case highlights the importance of piecing together the different facets of a complex clinical syndrome in reaching a challenging diagnosis. Also, LS must be kept as a differential in any child with neonatal cataracts and intellectual disability. Genetic confirmation of LS in our patient partly relieved the parental anxiety, and the child continued to remain under follow-up with multiple specialists, only now with a definite diagnosis.
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Caputi, Franco, Renato Spaziante, Enrico de Divitiis e Blaine S. Nashold. "Luigi Rolando and his pioneering efforts to relate structure to function in the nervous system". Journal of Neurosurgery 83, n. 5 (novembre 1995): 933–37. http://dx.doi.org/10.3171/jns.1995.83.5.0933.
Testo completoAbstract (sommario):
✓ The fissure separating the motor from the sensory cortex and the substantia gelatinosa capping the posterior horn of the spinal cord are still known by the name of the Italian anatomist Rolando. Luigi Rolando was born in Turin, Italy, in 1773 and died in 1831. His life was not easy, the first of his problems being the death of his father when Rolando was still very young. Three people were to be influential in his life and career: Father Maffei, his maternal uncle who raised him; Dr. Cigna, the anatomy professor who discovered his talent; and Dr. Anformi, a general practitioner who introduced him to the practice of medicine and to the best circles of the city. Forced to leave Turin by the Napoleonic invasion of the country, Rolando first stopped in Florence, where he learned about anatomical dissection, drawing, and engraving and studied the appearance of nervous tissue under the microscope. Later he went to Sardinia where, although cut off from European cultural circles, he developed his major theories. Rolando pioneered the idea that brain functions could be differentiated and located in specific areas and discovered the fixed pattern of cerebral convolutions, highlighting motor and sensory gyri. He demonstrated the complexity of the central gray matter of the spinal cord, describing the “substantia gelatinosa,” and he deduced that nervous structures are connected in a network of nervous fibers linked by electrical impulses. Rolando had to struggle for recognition, however, as the priority of his discoveries was challenged by the almost contemporaneous work of Gall and Spurzheim on cerebral localization and of Flourens on cerebellar function. Nevertheless, his efforts contributed greatly to the clarification of brain function. His observations on nervous anatomy have been especially accurate, as shown by the nomenclature “fissure of Rolando” and “substantia gelatinosa of Rolando.”
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DENAMUR, ERICK, NATHALIE BOCQUET, BEATRICE MOUGENOT, FRANCIS DA SILVA, LAURENCE MARTINAT, CHANTAL LOIRAT, JACQUES ELION, ALBERT BENSMAN e PIERRE M. RONCO. "Mother-to-Child Transmitted WT1 Splice-Site Mutation Is Responsible for Distinct Glomerular Diseases". Journal of the American Society of Nephrology 10, n. 10 (ottobre 1999): 2219–23. http://dx.doi.org/10.1681/asn.v10102219.
Testo completoAbstract (sommario):
Abstract. Mutations in the Wilms' tumor suppressor gene (WT1) are linked with Denys-Drash syndrome (DDS), a rare childhood disease characterized by diffuse mesangial sclerosis and renal failure of early onset, XY pseudohermaphroditism, and high risk of Wilms' tumor. KTS (lysine-threonine-serine) splice site mutations in WT1 intron 9 have been described in patients with Frasier syndrome, another rare syndrome defined by focal and segmental glomerulosclerosis (FSGS), XY pseudohermaphroditism, and frequent occurrence of gonadoblastoma. Cases of Frasier syndrome raise the question whether splice site mutations may also be found in XX females with isolated FSGS. A girl (index case) presented with the nephrotic syndrome at 9 mo of age. The diagnosis of DDS was based on the finding of diffuse mesangial sclerosis in the kidney biopsy and of a XY karyotype. The index case's mother had had proteinuria since she was 6 years of age. A renal biopsy was performed when she was 28 and disclosed FSGS. The same splice site mutation in intron 9 (WT1 1228+5 G→A) involving one allele was found in the child and in her mother, but not in other members of the kindred (including the parents, the two brothers, and the two sisters of the index case's mother) who were free of renal symptoms. Quantification of WT1 +KTS/-KTS isoforms in the index case's father and one index case's maternal uncle showed a normal +KTS/-KTS ratio of 1.50. In contrast, the index case and her mother had a low ratio (0.40 and 0.34, respectively), within the range reported in Frasier syndrome. In conclusion, this study shows that the KTS splice site mutation is not specific for Frasier syndrome, but that it can also be found in DDS and in a normal female (XX) with FSGS, a woman who achieved normal pregnancy. It is suggested that WT1 splice site mutations should be sought in phenotypically normal females who present with FSGS or with related glomerulopathies of early onset.
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Lucier, Jessica, e Jawairia Shakil. "A Unique Case of Primary Hyperparathyroidism". Journal of the Endocrine Society 5, Supplement_1 (1 maggio 2021): A179. http://dx.doi.org/10.1210/jendso/bvab048.362.
Testo completoAbstract (sommario):
Abstract Background: Primary hyperparathyroidism is the most common cause of hypercalcemia. It is more commonly seen in postmenopausal women, but can develop in younger individuals. Brown Tumors are an uncommon finding that can be seen in sever hyperparathyroidism. These bone findings are most often seen in the maxilla or mandible, though can affect any bone. Bone changes are reversible after parathyroidectomy. Clinical Case: An 18 year old male with a PMH of nephrolithiasis presented with a two day history of flank pain and hematuria. Endocrinology was consulted for hypercalcemia and elevated PTH. He had a family history of nephrolithiasis in his maternal uncle and grandfather, but no known family history of hypercalcemia or thyroid cancer. He was not on any medications or supplements. His initial labs were significant for a calcium of 15.0, PTH of 644, and a Vitamin D 25 of 11.7. He had no known history of hypercalcemia. He was treated with aggressive hydration, 4mg of zometa, 30mg of sensipar and two doses of 200mg calcitonin, with improvement in his calcium levels. Imaging of the abdomen and pelvis revealed multifocal solid-cystic lesions in the right superior pubic ramus and the distal femur, with smaller enhancing lesions in the left subtrochanteric, consistent with Brown Tumors. SpectCT was obtained and significant for a 2.1 by 1.4cm lesion in the anterior superior mediastinum. His overall presentation was consistent with primary hyperparathyroidism secondary to an ectopic parathyroid adenoma. Due to his relative young age at presentation and degree of primary hyperparathyroidism, there was concern for MEN1 or possible parathyroid carcinoma. MRI of the pituitary was obtained and showed a 4mm microadenoma in the right side of the pituitary. Prolactin, thyroid hormones, IGF-1, plasma metanephrines and calcitonin were all within normal limits. CDC73, a genetic marker for parathyroid carcinoma, was negative. Genetic work up for MEN1 was also negative. Endocrine surgery was consulted and he underwent a resection of the ectopic parathyroid adenoma. Discusion: Though most patients with primary hyperparathyroidism are asymptomatic, nephrolithiasis and Brown Tumors can be seen with more severe cases. It is important to rule out possible genetic causes for primary hyperthyroidism in patients with abnormal presentations, as it will change the overall long term management.
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Natarajan, Kavita, Ferdane Kutlar, Tao Li, Patrick Gallagher e Abdullah Kutlar. "A Case of HPP with a Novel Combination of α and β Spectrin Mutations." Blood 110, n. 11 (16 novembre 2007): 1736. http://dx.doi.org/10.1182/blood.v110.11.1736.1736.
Testo completoAbstract (sommario):
Abstract Hereditary pyropoikilocytosis (HPP) is a red cell membrane disorder classified under the broad umbrella of hereditary elliptocytosis (HE). It is usually the most severe form of HE and is inherited in an autosomal recessive manner. HE results from alterations in RBC membrane cytoskeleton proteins: spectrin, ankyrin, pallidin, band 4.1, and band 3. Quantitative or qualitative deficiencies result in varying clinical syndromes. In general, mutations in the α gene are closer to the amino terminal, and those in the β spectrin gene are nearer the carboxyl terminal and affect the formation of tetramers. We describe a patient associated with a novel mutation in the β and α spectrin genes. A 19 year old black female with a lifelong history of anemia and jaundice that worsened since age 15 presented with history of early satiety of a few months duration. Neither parent had a history of a blood disorder; a maternal uncle had history of splenectomy in his thirties. Her pre-splenectomy labs showed a Hb of 4.8g/dl with a MCV of 62, RDW of 38.8, and chemistries consistent with non-immune hemolytic anemia. Imaging and clinical exam revealed a spleen of 19cms and bizarre red cell morphology including RBC fragmentation and microcytosis. Post splenectomy the patient is entirely asymptomatic with a Hb of 13.2 with pathologic exam of the spleen showing benign, enlarged, red pulp consistent with hypersplenism. Genomic DNA was extracted from peripheral blood. Sequencing of the β-spectrin exon 30 was undertaken at the MCG Sickle Cell Center that revealed a GCT → CCT mutation (Ala → Pro) in codon 2053. This mutation has been previously reported in the homozygous state in a young boy from Mali with HPP (β spectrin Kayes). Since we could not explain the relatively severe phenotype in this patient with heterozygous β spectrin Kayes, further molecular analyses was performed at Yale. This revealed a mutation in the α-spectrin exon 5; L207P, α spectrin St.Louis. This is the 2nd reported case of HPP due to compound heterozygosity for an α and β spectrin mutation and the first combination of α spectrin St. Louis and β spectrin Kayes. African American female, 19 years old Diagnoses: “Pyropoikilocytosis” Sequence data: Spectrin bate-Kayes African American female, 19 years old Diagnoses: “Pyropoikilocytosis” Sequence data: Spectrin bate-Kayes
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Bernstein, Robin. "Children's Books, Dolls, and the Performance of Race; or, The Possibility of Children's Literature". PMLA/Publications of the Modern Language Association of America 126, n. 1 (gennaio 2011): 160–69. http://dx.doi.org/10.1632/pmla.2011.126.1.160.
Testo completoAbstract (sommario):
In about 1855, three decades before frances hodgson burnett wrote her first best-selling children's book, little lord fauntleroy, she was a child—Frances Eliza Hodgson—and she read Harriet Beecher Stowe's Uncle Tom's Cabin. She found Stowe's novel, like all the stories she encountered, to be “unsatisfactory, filling her with vague, restless craving for greater completeness of form” (Burnett 44). The form the girl craved—that is, the material she believed she needed to complete the narrative—was a black doll. When Burnett obtained the doll, she named it Topsy and used it to “act” out the parts of the novel she found most “thrilling” (53). Casting a white doll she already owned as Little Eva, she played out ever-repeating scenes of Eva laying hands on Topsy, awakening the hardened slave girl to Christian love. Burnett also kept the Eva doll “actively employed slowly fading away and dying,” and in these scenes she took on the role of Uncle Tom (57). At other times, Burnett performed the scene of Eva's death, casting the white doll as Eva and herself as “all the weeping slaves at once” (58). And at least once she designated the doll Uncle Tom and cast herself as Simon Legree. For this scenario, the girl bound the doll to a candelabra stand. “[F]urious with insensate rage,” she whipped her doll (fig. 1). Throughout the whipping, the doll maintained a “cheerfully hideous” grin, which suggested to the girl that Uncle Tom was “enjoying the situation” of being “brutally lashed” (56, 55).
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Unal, Emel, Derya Ozyoruk, Nurdan Tacyildiz, Ferda Pi̇narli̇, A. Erdogan, S. Hanalioglu, Arzu Erdem e Meral Beksac. "ANTI-PD-1 Treatment in a Family with Constitutional Mismatch Repair Deficiency Syndrome with Multiple Cancers from Turkey. Is Cancer Immunoprevention with Checkpoint Inhibitors HAS a Role in CASES with Homozygous Mutationis". Blood 134, Supplement_1 (13 novembre 2019): 5632. http://dx.doi.org/10.1182/blood-2019-130102.
Testo completoAbstract (sommario):
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of MMR genes and it is poorly recognised by clinicians so far. Here we present affected children of 1st degree consanguinous parents diagnosed with CMMRD syndrome due to germline bi-allelic MSH 6 mutations with multiple cancers and mimicking NF 1 in a family from Turkey A 8-yr-old female,referred with brain tumor with follow up Neurofibromatosis 1 and Familial Mediterranean Fever. One of the female siblings had died of aggressive brain tumor at 4yrs of age, one male sibling due to medulloblastoma, followed by diagnosis of a metachronous metastatic colon adenocarcinoma at 15yrs of age. No additional cancers have been reported in the extended family, with the exception of colorectal cancer in the maternal and paternal great uncle diagnosed at age 45 years, paternal grandfather with brain tumor at 70 age of years and maternal aunt with papillary thyroid cancer at age 50 years. Her physical examination was unremarkable other than 8 to 10 cafe-au- lait spots and hipodense macules with irregular borders on her body. Laboratory tests were normal with low IG G2 levels. Cranial MRI revealed a mass in the left cerebellar region, subcortical hyperdens lesions in fronto-parietal area. She underwent near-total resection,histopathology revealed classic desmoplastic medulloblastoma.Postoperative craniospinal MRI showed no residue or metastasis.Craniospinal RT and CT of CCNU, cisplatin,VCR were given. At initial, due to colon adenocarcinoma history in her family, the colonoscopy was performed which did not reveal any polypoid lesions. In addition, because of the family history, the genetic analysis was carried out and disclosed a novel homozygous single base insertion mutation in exon 5 of the MSH 6 gene ( c.3261dupC/ p.Phe1088Leu ).Five cycles of previously mentioned chemotherapy combination and Nivolumab, obtained by pediatric extended use, was commenced at 3 mg/kg/dose in every 2 weeks as new polyps were detected in the following colonoscopy. After 10th dose,9 polyps were removed of tubular adenoma histopathology .She is still on antiPD1 treatment (18.th dose and in remission. Last colonoscopy revealed only one polyp mm in size. The genetic test results of the family: Blood samples were obtained from parents and siblings. One of the siblings was also found to be homozygous. She is 24- months- old age and has multiple cafe-au-lait spots on her body. She is still under follow up with screening tests for development of possible neoplasms. The parents and the other two siblings ( 11 and 6 years old boys) were heterozygous for the mutation. The male sibling who died from medulloblastoma and metastatic colorectal carcinoma genetic test had revealed same homozygous mutation. Conclusions: As the use of immune modulation for cancer prevention rather than therapy has gained considerable attention, we wonder if 24-months-old female sibling with homozygous mutation will be a candidate for cancer immunoprevention with AntiPD1drugs. We think that an international collaboration is required to evaluate guidelines for screening and treatment of malignancies and to explore prevention strategies patients with CMMRD syndrome. Disclosures Beksac: Amgen: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Janssen: Research Funding, Speakers Bureau; Takeda: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Celgene: Speakers Bureau.
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Harrigan, Amye M., Shelley MacDonald, Bruce N. Crooks, Sarah Dyack e Amy M. Trottier. "A Case Series of TERC Variant telomere Biology Disorders in Unrelated Families from Eastern Canada". Blood 136, Supplement 1 (5 novembre 2020): 11. http://dx.doi.org/10.1182/blood-2020-143187.
Testo completoAbstract (sommario):
TERC variant telomere biology disorders are a rare and heterogenous group of disorders that arise from germline variants in TERC, a gene that encodes for the RNA component of telomerase. Variants in TERC lead to accelerated telomere attrition and can manifest as a wide array of clinical phenotypes affecting multiple organ systems. In this case series, we aim to add to the literature describing TERC variant telomere biology disorders by reporting cases from two unrelated families from Eastern Canada, one of whom was found to have a novel germline TERC variant and the other had a unique phenotypic presentation of previously described TERC variant. The proband of family A presented intrapartum at the age of 19 with moderate thrombocytopenia but was otherwise healthy. Her past medical history was significant for premature greying of hair as a teenager. The patient went on to have a bone marrow biopsy post-partum, as the thrombocytopenia was persistent. The bone marrow biopsy revealed a diagnosis of myelodysplastic syndrome (MDS). When she was 30 years of age, proband A's father was subsequently diagnosed with MDS. He was 53 years of age at the time of his diagnosis and he passed away of his disease 1 year later. Proband A has not required any treatment for her MDS as her blood counts have remained stable, and she now has three children. Given the family history, the proband of family A and her three children were referred to adult and pediatric hematology, respectively and medical genetics. The two youngest children, an 11-year-old male and a 9-year-old female, were found to have leukopenia and thrombocytopenia, respectively. On next generation sequencing, the proband and the two youngest children were found to have a TERC n.107 G>T (NR_001566.1) variant. The eldest child, who's CBC was normal, was not a carrier. This variant has been previously reported in the literature however it has not been reported with MDS as the phenotype. The findings in this family support allelic segregation of this variant with disease, which changes the classification of the variant from "likely pathogenic" to "pathogenic" according to the American College of Medical Genetics and Genomics/Association for Molecular Pathology classification of sequence variants. The proband of family B is a male who presented to his primary care provider at the age of 35 with symptoms of generalized fatigue and was found to have macrocytic anemia and thrombocytopenia on his complete blood count. His past medical history was significant for premature greying of hair, diabetes mellitus type 2, obesity and smoking. He underwent a bone marrow biopsy that revealed a diagnosis of aplastic anemia. One year later, he was also diagnosed with pulmonary fibrosis. This diagnosis was made based on a CT scan that was done because of proband B's strong maternal family history of pulmonary fibrosis affecting his mother, maternal uncle and grandfather. Proband B was referred to hematology and medical genetics for further testing. Next generation sequencing revealed a TERC n.437 T>G (NR_001566.1) variant. Unfortunately, there was no tissue available for testing from the other affected family members as they had passed away from complications related to pulmonary fibrosis. This is the first report of this TERC variant in the literature. Reporting novel presentation of known TERC variants and/or novel TERC variants is important to help clinicians recognize and diagnose telomere biology disorders as this has important implications for the management of patients, their families, and future generations. Disclosures No relevant conflicts of interest to declare.
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Ganikhodjaev, Nasir. "Ising model with competing “uncle–nephew” interactions". Phase Transitions 89, n. 12 (4 marzo 2016): 1196–202. http://dx.doi.org/10.1080/01411594.2016.1156680.
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Crewe, V. A., e D. M. Hadley. "‘Uncle Tom was there, in crockery’: Material Culture and a Victorian Working-class Childhood". Childhood in the Past 6, n. 2 (settembre 2013): 89–105. http://dx.doi.org/10.1179/1758571613z.0000000008.
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Bianchi, Paola, Elisa Fermo, Luana Mandarà, Cristina Vercellati, Anna Paola Maria Luisa Marcello, Agostino Cortelezzi, Wilma Barcellini e Alberto Zanella. "Molecular characterization of the First Italian Variant of Phosphoglycerate Kinase Deficiency". Blood 118, n. 21 (18 novembre 2011): 5270. http://dx.doi.org/10.1182/blood.v118.21.5270.5270.
Testo completoAbstract (sommario):
Abstract Abstract 5270 Phosphoglycerate kinase (PGK) is a key glycolytic enzyme that catalyzes the reversible phosphotransfer reaction from 1,3-bisphosphoglycerate (1,3-BPG) to ADP to form 3-phosphoglycerate (3-PG) and ATP. It is a small monomeric molecule characterized by two hinge-bent domains, with a highly conserved structure. The N-terminal domain binds 1,3-BPG or 3-PG, whereas the C-terminal domain binds Mg-ADP or Mg-ATP. Two isozymes, PGK1 and PGK2, are present in humans, encoded by two distinct genes. Whereas PGK2 is a testis-specific enzyme, PGK1 is expressed in all the somatic cells. The PGK1 gene is located on the Xq-13.1 chromosome, and encodes a protein of 416 amino acids. Mutations of the PGK1 gene result in enzyme deficiency characterized at clinical level by mild to severe hemolytic anemia, neurological dysfunctions and myopathy. Patients rarely exhibit all three clinical features. Since the first description by Kraus et al, nearly 40 patients with PGK deficiency have been reported, 27 of them characterized at the DNA or protein level. To date, 20 different mutations with worldwide distribution have been described. The aim of the study was to characterize the molecular defect in an Italian patient affected by phosphoglycerate kinase deficiency. The patient, born from unrelated parents with negative family history of neurological defects, showed at birth neonatal jaundice. At the age of four years, in concomitance of an infective episode, he displayed hemolytic anemia (Hb 8.6 g/dL, reticulocytes 19%, unconjugated bilirubin 0.91 mg/dL, LDH 445 u/l, aptoglobin absent) and increased CPK values (2483U/L). The patient showed respiratory distress. The study of red cell glycolytic enzymes displayed a drastic reduction of PGK activity (41.8 UI/gHb ref. values 287–392). We examined again the patient at the age of 25 yrs in occasion of his sister's first pregnancy. The patient displayed compensated hemolytic anemia (Hb 14.1 g/dL, reticulocytes 6.6%) and severe myopathy. Sequencing analysis of the entire coding region and flanking intronic sequences of PGK1 gene showed the presence of a novel missense mutation c.1112 (ATA>AAA) responsible for amino acid substitution Ile371Lys. Although the mutation falls in the third last nucleotide of exon 9, it doesn't alter the splicing as confirmed by patient cDNA analysis that showed a normal transcript. The new mutation is located in a highly conserved region among species close to the ATP binding site and it was not found among the 100 normal alleles examined thus excluding the possibility of a polymorphism. Family study performed in the parents, the two healthy sisters and maternal uncle confirmed the X-linked transmission of the disease. Disclosures: No relevant conflicts of interest to declare.
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Thompson, Cheryl. "Uncle Tom’s Cabin Historic Site and creolization: the material and visual culture of archival memory". African and Black Diaspora: An International Journal 12, n. 3 (19 giugno 2019): 304–19. http://dx.doi.org/10.1080/17528631.2019.1611325.
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Arter, Zhaohui Liao, Caitlin Yatogo, Michael C. Chicka e Jeffrey L. Berenberg. "The Mystery of "Magic Blood" - Familial Macrothrombocytopenia Associated with a Novel Variant in GP1BA Gene". Blood 134, Supplement_1 (13 novembre 2019): 2380. http://dx.doi.org/10.1182/blood-2019-122384.
Testo completoAbstract (sommario):
Introduction: Inherited macrothrombocytopenias comprise a heterogeneous group of rare inherited disorders characterized by decreased platelet count with enlarged platelet size. Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein that is encoded by GP1BA gene, and functions as a receptor for von Willebrand factor (VWF). Mutations in the GP1BA gene are seen in Bernard-Soulier syndrome (BSS). Here we describe a family with an isolated giant platelet disorder and a novel variant in the GP1BA gene following an autosomal dominant mode of inheritance. In our kindred this variant was not associated with clinical history or specific laboratory evidence of BSS. Case Presentation: 34-year-old female reported first being diagnosed with macrothrombocytopenia at the age of 13 on routine blood work. The patient and 11 of her relatives spanning 5 generations have reported asymptomatic macrothrombocytopenia (Figure 1), described as "Magic Blood" by her family. Her platelet count fell below 20,000/microL during one of her pregnancies. She was treated as idiopathic thrombocytopenic purpura (ITP) and was given corticosteroids to increase platelet count without improvement. On presentation, patient's complete blood count was significant for low platelet at 55,000/microL and macrothrombocytes were observed on blood smear. Methods/Results: VWF assays, including Factor VIII activity, VWF Ag, and Ristocetin Cofactor, were within normal limits. VWF multimer analysis revealed a normal pattern and distribution of bands. Patient had a normal platelet aggregation in response to ADP, Collagen, Epinephrine, Ristocetin and Arachidonate. Flow Cytometry detected normal GP Ib and GP IIb/ IIIa expression. Whole exome sequencing and copy number analysis of 29 genes associated with thrombocytopenia revealed a c.97T>G substitution in the GP1BA gene predicted to result in the amino acid substitution p.Cys33Gly (Figure 2). To our knowledge, this variant has not been reported in the literature or public databases. To confirm this novel variant is the cause of the familiar macrothrombocytopenia, two relatives with macrothrombocytopenia, a maternal uncle and a first cousin, also underwent genetic testing and were found to have the same variant. Discussion: Variants in GP1BA are associated with both autosomal dominant and recessive forms of BSS and with autosomal dominant platelet-type VWD. Our kindred is surprisingly asymptomatic given the location and specific amino acid substitution generated by the variant. Amino acid residue p.Cys33 resides in an extracellular N-terminal domain that is critical for VWF binding and proper assembly of the GP1B-IX complex. A heterozygous substitution involving the same amino acid residue defined as p.Cys33Arg was observed in two patients with macrothrombocytopenia with no reported bleeding complications (MC, unpublished data). Substitution of a nearby cysteine residue defined as p.Cys20Gly has been reported in a case of monoallelic chronic macrothrombocytopenia without bleeding diathesis similar to our patient. Amino acid residues p.Cys20 and p.Cyc33 are highly conserved among divergent species and substitution of these amino acid residues appears to not be tolerated. Substitution of other cysteine amino acid residues in the extracellular domain of the GP1BA protein (p.Cys81 and p.Cys225) has also been reported in patients with biallelic BSS, suggesting that perturbation of cysteine amino acid residues is likely to affect protein structure and function. Conclusion:We think the p.Cys33Gly substitution found in our patient and her relatives is likely to be a primary cause of monoallelic GP1BA-associated macrothrombocytopenia. It is important to distinguish inherited macrothrombocytopenia from ITP in order to avoid unnecessary and potentially toxic treatment. Disclosures No relevant conflicts of interest to declare.
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Robinson, Helen, Helen Barrett, Luisa Gomez-Arango, H. David McIntyre, Leonie Callaway e Marloes Dekker Nitert. "Ketonuria Is Associated with Changes to the Abundance of Roseburia in the Gut Microbiota of Overweight and Obese Women at 16 Weeks Gestation: A Cross-Sectional Observational Study". Nutrients 11, n. 8 (8 agosto 2019): 1836. http://dx.doi.org/10.3390/nu11081836.
Testo completoAbstract (sommario):
The gut microbiome in pregnancy has been associated with various maternal metabolic and hormonal markers involved in glucose metabolism. Maternal ketones are of particular interest due to the rise in popularity of low-carbohydrate diets. We assessed for differences in the composition of the gut microbiota in pregnant women with and without ketonuria at 16 weeks gestation. Fecal samples were obtained from 11 women with fasting ketonuria and 11 matched controls. The samples were analyzed to assess for differences in gut microbiota composition by 16S rRNA sequencing. Supervised hierarchical clustering analysis showed significantly different beta-diversity between women with and without ketonuria, but no difference in the alpha-diversity. Group comparisons and network analysis showed that ketonuria was associated with an increased abundance of the butyrate-producing genus Roseburia. The bacteria that contributed the most to the differences in the composition of the gut microbiota included Roseburia, Methanobrevibacter, Uncl. RF39, and Dialister in women with ketonuria and Eggerthella, Phascolarctobacterium, Butyricimonas, and Uncl. Coriobacteriaceae in women without ketonuria. This study found that the genus Roseburia is more abundant in the gut microbiota of pregnant women with ketonuria. Roseburia is a butyrate producing bacterium and may increase serum ketone levels.
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Andújar, Rosa. "UNCLES EX MACHINA: FAMILIAL EPIPHANY IN EURIPIDES’ ELECTRA". Ramus 45, n. 2 (dicembre 2016): 165–91. http://dx.doi.org/10.1017/rmu.2016.9.
Testo completoAbstract (sommario):
At the close of Euripides’ Electra, the Dioscuri suddenly appear ‘on high’ to their distraught niece and nephew, who have just killed their mother, the divine twins’ mortal sister. This is in fact the second longest extant deus ex machina (after the final scene in Hippolytus), and the only scene in which a tragedian attempts to resolve directly the aftermath of the matricide. In this article, I argue that Castor's and Polydeuces’ sudden apparition to Orestes and Electra constitutes a specialised point of intersection between the mortal and immortal realms in Greek tragedy: familial epiphany, an appearance by a god who has an especially intimate relationship with those on stage. Euripides’ focus on the familial divine as a category accentuates various contradictions inherent to both ancient Greek theology and dramaturgy. The Dioscuri are a living paradox, ambiguously traversing the space between dead heroes and gods, managing at the same time to occupy both. They oscillate uniquely between the mortal and immortal worlds, as different sources assign different fathers to each brother, and others speak of each one possessing divinity on alternate days. As I propose, the epiphany of these ambiguous brothers crystallises the problem of the gods’ physical presence in drama. Tragedy is the arena in which gods burst suddenly into the mortal realm, decisively and irrevocably altering human action. The physical divine thus tends to be both marginal and directorial, tasked with reining in the plot or directing its future course. The appearance of the familial divine, on the other hand, can in fact obscure the resolution and future direction of a play, undermining the authority of the tragic gods. In the specific case of Electra, I contend that the involvement of the Dioscuri, who are Electra's and Orestes’ maternal uncles, produces a sense of claustrophobia at the close of the play, which simultaneously denies the resolution that is expected from a deus ex machina while also revealing the pessimistic nature of what is typically considered a reassuringly ‘domestic’ and character driven drama.