Gotowe bibliografie tematyczne / Autosomal recessive condition

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Gotowa bibliografia na temat „Autosomal recessive condition”

Autor: Grafiati

Data publikacji: 2 czerwca 2025

Data aktualizacji: 31 lipca 2025

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Artykuły w czasopismach na temat "Autosomal recessive condition"

Baird, Patricia A., and Ann J. Worth. "Congenital generalized fibromatosis: an autosomal recessive condition?" Clinical Genetics 9, no. 5 (2008): 488–94. http://dx.doi.org/10.1111/j.1399-0004.1976.tb01602.x.

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Cecatto-De-Lima, L., M. Pinheiro, and N. Freire-Maia. "Oculotrichodysplasia (OTD): a new probably autosomal recessive condition." Journal of Medical Genetics 25, no. 6 (1988): 430–32. http://dx.doi.org/10.1136/jmg.25.6.430.

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Majumder, Poulami, Vineet Nair, Malancha Mukherjee, Sujoy Ghosh, and Subrata Kumar Dey. "The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis." Case Reports in Dentistry 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/432864.

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Hereditary gingival fibromatosis (HGF) is a rare condition which is marked by enlargement of gingival tissue that covers teeth to various extents leading to aesthetic disfigurement. This study presents a case of a 28-year-old female patient and 18-year-old male who belong to the same family suffering from HGF with chief complaint of overgrowing swelling gingiva. The presence of enlarged gingiva with the same eruption was found in their other family members with no concomitant drug or medical history, and the occurrence of HGF has been found in one generation of this family which may indicate t

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Basnet, S., and A. K. Sharma. "Bardet Biedl Syndrome." Journal of Institute of Medicine Nepal 30, no. 2 (2008): 46–48. http://dx.doi.org/10.59779/jiomnepal.350.

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Stevanovic, Radmila, Sofija Glumac, Jovanka Trifunovic, Biljana Medjo, Tijana Nastasovic, and Jasmina Markovic-Lipkovski. "Autosomal recessive polycystic kidney disease: Case report." Srpski arhiv za celokupno lekarstvo 137, no. 5-6 (2009): 288–91. http://dx.doi.org/10.2298/sarh0906288s.

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Introduction. Autosomal recessive polycystic kidney disease is the most common heritable cystic renal disease occurring in infancy and childhood. The clinical spectrum of signs and symptoms of this disease is widely variable ranging from perinatal death to a milder progressive form, which cannot be diagnosed until adolescence. Case Outline. A female neonate born in the 35th/36th week of gestation. The findings of all standard medical examinations of the neonate done by the mother were within normal limits. A few days before delivery physicians at a regional medical centre revealed enlarged kid

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Ryznychuk, M. O., V. P. Pishak, N. V. Bacyuk-Ponych, and O. V. Pishak. "Hereditary tubulopathies accompanying polyuia." Regulatory Mechanisms in Biosystems 12, no. 3 (2021): 445–51. http://dx.doi.org/10.15421/022161.

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Tubulopathies are a group of heterogeneous diseases that are manifested in the malfunction of the renal tubules. This review addresses tubulopathies associated with polyuria syndrome, namely renal glucosuria syndrome, nephrogenic diabetes insipidus and pseudohyperaldosteronism. Types of renal glucosuria are described, namely: type A, type B and the most severe type 0. Type A is characterized by a low filtration threshold and low glucose reabsorption. The type of inheritance is autosomal recessive. Type B, autosomal dominant, is characterized by uneven activity of glucose transport, in which it

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DESCH, LARRY W., and WILLIAM A. HORTON. "An Autosomal Recessive Bone Dysplasia Syndrome Resembling Hypochondroplasia." Pediatrics 75, no. 4 (1985): 786–89. http://dx.doi.org/10.1542/peds.75.4.786.

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Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by mild-to-moderate shortening of the limbs, a stocky build, lordosis, and occasionally mental deficiency.1-4 Hall and Spranger5 have recently defined distinct radiographic criteria for the diagnosis of this condition. We wish to describe two siblings of normal parents whose features are quite similar to those of individuals with hypochondroplasia. The characteristics that these siblings exhibited are distinguishable from hypochondroplasia by subtle radiographic differences as well as the differing inheritance pattern.

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Penman, D. G., and R. J. Lilford. "The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition." Journal of Medical Genetics 26, no. 1 (1989): 66–67. http://dx.doi.org/10.1136/jmg.26.1.66.

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LAXOVA, RENATA, P. T. OHARA, and J. A. D. TIMOTHY. "A FURTHER EXAMPLE OF A LETHAL AUTOSOMAL RECESSIVE CONDITION IN SIBS." Journal of Intellectual Disability Research 16, no. 1-2 (2008): 139–43. http://dx.doi.org/10.1111/j.1365-2788.1972.tb01585.x.

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Nirojini, P. Sharmila, and A. Asma Fathumuthu. "A Detailed Review on Dihydropyrimidine Dehydrogenase Enzyme Deficiency-Autosomal Recessive Condition." Indian Journal of Pharmacy Practice 16, no. 2 (2023): 70–82. http://dx.doi.org/10.5530/ijopp.16.2.13.

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Książki na temat "Autosomal recessive condition"

Foggensteiner, Lukas, and Philip Beales. Bardet–Biedl syndrome and other ciliopathies. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0314.

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Ciliopathies encompass a genotypically complex and phenotypically variable and overlapping series of disorders that makes the general term ‘ciliopathies’ very useful. The genes behind these conditions encode parts of the machinery of the primary cilium. This is also true of the major cystic kidney disorders autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease, but the ‘long tails’ of other ciliopathies are characterized by variable nephropathy (often without cyst formation), retinopathy, and effects on brain and skeletal development. Not all have subst

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Brahm, Amanda J., and Robert A. Hegele. Monogenic Chylomicronemia: Deficiency of Lipoprotein Lipase and Related Factors. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0033.

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Monogenic chylomicronemia is an autosomal recessive condition characterized by severely elevated fasting triglyceride that carries lifelong elevated risk of developing pancreatitis. The majority of cases are caused by mutations in the LPL gene encoding lipoprotein lipase, the enzyme primarily responsible for chylomicron clearance. Mutations in genes encoding associated proteins (APOC2, APOA5, GPIHBP1 and LMF1) may also present with a very similar phenotype. Current management, which includes restriction of dietary fat intake and standard pharmacologic interventions, has met with limited succes

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Alport Syndrome. Exon Publications, 2024. http://dx.doi.org/10.36255/alport-syndrome.

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Alport Syndrome is a genetic condition that affects the kidneys, ears, and eyes, causing progressive damage to these organs over time. This article serves as a comprehensive guide to understanding the condition, its causes, and how it is managed. It begins by explaining what Alport Syndrome is and the role of the COL4A3, COL4A4, and COL4A5 genes in causing the disorder. The article explores its prevalence and the different types of inheritance, including X-linked, autosomal recessive, and autosomal dominant patterns, which influence the severity of the condition. The guide details the symptoms

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Bosch, Annet M., and Elaine Murphy. Galactosemia. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0002.

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There are three known inherited disorders of galactose metabolism: classic galactosemia (galactose-1-phosphate uridyltransferase deficiency), galactokinase deficiency, and uridine diphosphate galactose 4-epimerase deficiency. Classic galactosemia presents in the newborn period with liver and renal impairment and failure to thrive. Acute symptoms resolve when lactose is excluded from the diet, but long-term complications are frequent and include neurocognitive and social difficulties, speech and language problems, motor problems, and premature ovarian insufficiency. Patients with galactokinase

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Murphy, Elaine. Tyrosinemia Type II. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0014.

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Tyrosinemia type II is a rare oculocutaneous disorder that in some individuals is also associated with developmental delay or other neurological problems. Bilateral keratitis and painful hyperkeratotic lesions of the palms and soles are the typical presenting lesions. Diagnosis is suggested by the clinical picture, elevated plasma tyrosine levels, and specific urinary metabolites. It is an autosomal recessive condition caused by mutations in the tyrosine aminotransferase (TAT) gene. Treatment is aimed at reducing plasma tyrosine levels and consists of a low-protein diet with age-appropriate am

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Heidet, Laurence, Bertrand Knebelmann, and Marie Claire Gubler. Alport syndrome. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0322_update_001.

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This chapter describes the clinical features of Alport syndrome. The characteristic features of this familial condition are haematuria with progressive nephropathy and sensorineural hearing loss. Most cases are X-linked so this is typically seen in boys and young men, but female heterozygous (‘carriers’) of X-linked Alport syndrome are also at significant risk of renal disease in their lifetime. The average age of end-stage renal failure is in the third or fourth decade. Those with autosomal recessive disease (approximately 15%) show a similar phenotype. Hearing loss characteristically develop

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Grom, Alexei A., and Athimalaipet V. Ramanan. Macrophage activation syndrome. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0168.

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Macrophage activation syndrome (MAS) is a life-threatening condition caused by excessive activation and proliferation of T lymphocytes and haemophagocytic macrophages. Although MAS has been reported in association with almost any rheumatic disease, it is by far most common in systemic juvenile idiopathic arthritis. Flares of the underlying disease or infection are most common triggers of MAS. The pathognomonic feature of MAS is typically found in bone marrow: numerous, well-differentiated macrophagic histiocytes phagocytosing normal haematopoietic elements. The expansion of these histiocytes l

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Sayer, John A. Nephronophthisis and medullary cystic kidney disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0316_update_001.

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The inherited cystic kidney conditions nephronophthisis (NPHP) and medullary cystic kidney disease (MCKD) have previously been referred to as a NPHP–MCKD complex. This descriptive term was based on histological studies where the renal pathological features were common to both disorders. Both conditions may also present with insidious renal impairment and a urine concentrating defect, but they are genetically distinct. NPHP is an autosomal recessive disorder leading to established renal failure usually within the first three decades of life, and it is a ciliopathy. In contrast, MCKD is an autos

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Steensma, David P. Benign Hematology. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199755691.003.0294.

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The major forms of benign hematologic conditions are anemia, neutropenia, transfusion reactions, Gaucher disease, and porphyria. Anemia is a sign of disease rather than a disease itself. Anemia results from 1 or more of 3 pathologic mechanisms: inadequate production of red blood cells (RBCs) by the bone marrow, blood loss, or premature destruction of RBCs. The major causes of neutropenia include hematologic neoplasm, metastatic neoplasm involving the marrow, irradiation, vitamin B12 deficiency and folate deficiency, drugs, infections, congenital or acquired primary disorders of hematopoiesis,

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McKinlay Gardner, R. J., and David J. Amor. Chromosome Instability Syndromes. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0016.

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A defect of DNA repair is the factor underlying the chromosome instability syndromes, also known as chromosome breakage syndromes. The “instability” refers to the predisposition of the chromosomes to undergo rearrangement or to display other abnormal cytogenetic behavior. The classic chromosome instability syndromes are individually rare: Fanconi syndrome, ataxia-telangiectasia, and Bloom syndrome. Smaller-print conditions are yet more rare, including Roberts syndrome; the immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome; and Nijmegen breakage syndrome. The role of cy

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Części książek na temat "Autosomal recessive condition"

Pehlivanoglu, Suray, and Sebnem Pehlivanoglu. "Craniosynostosis: Clinical Characteristics, Molecular Mechanisms and Treatment." In Molecular Approaches in Medicine. Nobel Tip Kitabevleri, 2024. http://dx.doi.org/10.69860/nobel.9786053359524.6.

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Craniosynostosis is a congenital condition marked by the early fusion of one or more cranial sutures. Cranial sutures are fibrous tissues that connect the skull bones. They play a crucial role in ensuring bone formation at the edges of the calvarial bones, which move apart to facilitate the passage of the head through the birth canal and allow for future brain growth. The premature fusion limits skull growth perpendicular to the affected sutures, potentially resulting in abnormal head shapes, increased intracranial pressure, and developmental delays. The prevalence of craniosynostosis is about

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"Alkaptonuria and Autosomal Recessive Inheritance." In Landmarks in Medical Genetics, edited by Peter S. Harper. Oxford University PressNew York, NY, 2004. http://dx.doi.org/10.1093/oso/9780195159301.003.0006.

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Abstract Garrod’s founding role in biochemical genetics and his general concept of inborn errors of metabolism are covered later in this volume, but his 1902 analysis of the familial pattern of alkaptonuria was the first example of mendelian inheritance of a human disorder (Fig. 6–1). Encouraged by Bateson, who had noted Garrod’s preliminary report a year earlier, he was able to document 48 sibs, of whom 19 were affected (removal of 9 probands to correct ascertainment bias would have given an almost exact 1 in 4 ratio). Garrod was also struck by the remarkably high frequency of consanguinity (

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Khan, Arif O. "Cornea Plana." In Genetic Diseases of the Eye, 3rd ed. Oxford University PressNew York, 2025. https://doi.org/10.1093/med/9780197659403.003.0009.

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Abstract Autosomal recessive cornea plana is a distinct congenital phenotype that is specific for biallelic pathogenic variants in the gene KERA. Classic features include corneal flattening, variable deep corneal opacity, indistinct limbus, variable iris abnormalities, high hyperopia, and accommodative esotropia. Although the anterior segment phenotype is pathognomonic, the condition may be misdiagnosed as Peters anomaly or microphthalmia. Rare features include corneal ectasia and endothelial decompensation. There may be a less severe autosomal dominant form, but no associated gene has been id

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Manson, Forbes D. C., Kate E. Chandler,, and Graeme C. M. Black. "VPS13B and Cohen Syndrome." In Inborn Errors Of Development. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0159.

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Abstract Cohen syndrome (COH1) (MIM 216550) is an autosomal recessive condition with a distinct clinical phenotype that has been attributed to mutations in the VPS13B gene. The initial report was by Cohen in 1973 who reported a brother and sister and an unrelated patient, with developmental delay and a similar dysmorphic facial gestalt associated with microcephaly, truncal obesity, joint hyperextensibility, hypotonia, and speci2c ophthalmic abnormalities (Cohen et al., 1973). The condition is uncommon with reported cases worldwide numbering hundreds rather than thousands and is one of several

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Ostrer, Harry. "Deviations From The Mendelian Paradigm." In Non-Mendelian Genetics in Humans. Oxford University PressNew York, NY, 1998. http://dx.doi.org/10.1093/oso/9780195068771.003.0004.

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Abstract The familial transmission of color blindness in humans demonstrates that Mendel’s laws are insufficient to explain the genetics of this condition in humans. Typically, the color-blind individual is born to unaffected parents, and on aver age, one-quarter of the offspring in these families have the condition. The uninformed observer might conclude that color blindness is a recessive condition based on the ratio of 3:1 for affected to unaffected. Yet the same observer would be hard-pressed to fit a model of autosomal recessive inheritance based on its occurrence only in male offspring a

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Knoers, Nine V. A. M., and Elena N. Levtchenko. "Disorders of tubular electrolyte handling." In Oxford Textbook of Medicine. Oxford University Press, 2010. http://dx.doi.org/10.1093/med/9780199204854.003.2116_update_001.

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Physiology—glucose reabsorption in the proximal tubule is carried out by two different pairs of apical Na+-dependent (SGLT1 and 2) and basolateral Na+-independent (GLUT1 and 2) glucose transporters. Clinical disorders—abnormalities in renal glucose transport can be seen in association with other defects of proximal tubular transport (Fanconi syndrome, see below). Familial renal glycosuria is a rare autosomal recessive condition caused by mutations in the SGLT2-encoding gene, ...

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Chapman, Stephen J., Grace V. Robinson, Rahul Shrimanker, Chris D. Turnbull, and John M. Wrightson. "Sickle cell disease and the lung." In Oxford Handbook of Respiratory Medicine, edited by Stephen J. Chapman, Grace V. Robinson, Rahul Shrimanker, Chris D. Turnbull, and John M. Wrightson. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198837114.003.0047.

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Sickle cell disease is an autosomal recessive condition resulting in a substitution of a valine for glycine in the β‎-globin subunit of Hb, forming HbS. HbS is less soluble under reduced O2 tensions and leads to deformation of red blood cells (sickling) when deoxygenated (e.g. in atelectatic lung), resulting in chronic haemolysis and vascular occlusion with tissue infarction in individuals homozygous for the β‎-globin gene mutation (sickle cell anaemia/disease).

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Huber, Céline, and Valérie Cormier-Daire. "CUL7 and the 3M Syndrome." In Inborn Errors Of Development. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0136.

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Abstract 3M syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth retardation with normal endocrine function, facial dysmorphism, large head circumference, and normal intelligence. Skeletal changes include long slender tubular bones and tall vertebral bodies. Using a homozygosity mapping strategy, we have mapped the disease locus gene on chromosome 6p21.1, and considered CUL7 (Cullin 7) as a candidate gene based on a knock- out Cul7−/− mice. Indeed, Cul7−/− embryos are characterized by intra- uterine growth retardation (IUGR), with a placenta of reduced

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Kilpatrick, Michael W., and Petros Tsipouras. "GDF5 (CDMP1) and Chondrodysplasia (Grebe, Hunter–Thompson, and Du Pan Types), and Brachydactyly, Type C." In Inborn Errors Of Development. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0034.

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Abstract The human osteochondrodysplasias comprise a large and heterogeneous group of inherited disorders affecting skeletal morphogenesis. Grebe-type chondrodysplasia (OMIM 200700) is characterized by a normal axial skeleton and severely shortened and deformed extremities exhibiting a proximo-distal gradient of severity. This condition is classi%ed as a form of acromesomelic dysplasia. Two other phenotypically similar conditions are the Hunter–Thompson (OMIM 201250) and Du Pan (OMIM 228900) types of chondrodysplasia. Brachydactyly type C (BTC) (OMIM 113100) is characterized primarily by short

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Neri, Giovanni. "Perlman Syndrome." In Overgrowth Syndromes. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780190944896.003.0007.

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This chapter describes Perlman syndrome, which is an autosomal recessive overgrowth syndrome that presents with a severe phenotype, usually resulting in early postnatal death. Overgrowth is extended to the internal organs, liver, pancreas, and especially kidneys, with histologic findings of focal hamartomas and nephroblastomatosis. These dysplasias predispose to the development of Wilms tumor, a very common occurrence in Perlman syndrome. The condition seems to be very rare, even though mild cases, if any exist, may go undiagnosed. The causal mutation affecting the DIS3L2 gene was discovered o

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Streszczenia konferencji na temat "Autosomal recessive condition"

Haegerstrom-Portnoy, G., N. Friedman, A. J. Adams, M. Schneck, and S. Hewlett. "Vision Function of Rod Monochromats: I. Advanced Clinical Measures." In Noninvasive Assessment of the Visual System. Optica Publishing Group, 1988. http://dx.doi.org/10.1364/navs.1988.tua4.

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Achromatopsia -- the absence of color vision -- is a relatively rare condition which can result from a variety of congenital and acquired ocular disorders. The most common form of achromatopsia is complete (typical) rod monochromatism, which is inherited as an autosomal recessive trait and is characterized by severely reduced visual acuity, pendular nystagmus and photophobia. X-linked recessive incomplete (blue cone) monochromatism, in which the patient has both rod and blue cone function, has a very similar presentation clinically, and is often confused with complete rod monochromatism. Less

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Rodrigues, Bruno Cassis Antunes, Francisco Tomaz Meneses de Oliveira, and Rubens José Gagliardi. "Importance of early diagnosis of galactosemia and encephalopathy: case report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.483.

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Introduction: Galactosemia is an autosomal recessive genetic condition, with alteration of galactose metabolism, leading to increased serum concentration of galactose (galactosemia). The first symptoms occur in the neonatal period, associated with the ingestion of galactose. Untreated patients usually have growth failure, liver and kidney dysfunction, tubulopathies, encephalopathy and susceptibility to infections. Case report: We describe a case of diagnostic investigation of a patient born at 38 weeks, after an uncomplicated gestation, with congenital cataracts, hepatomegaly, diabetes and Fan

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Costa, Gustavo Carvalho, Carolina Maria Marin, Igor Braga Farias, et al. "Self-mutilation as a clinical manifestation of Cerebrotendinous Xanthomatosis." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.063.

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Introduction: Cerebrotendinous xanthomatosis (CTX) is a rare neurological entity, which consists of an autosomal recessive inherited disorder of bile acid biosynthesis due to CYP27A1 variants, with variable systemic and neurological clinical presentation. Psychiatric signs are also observed at early adulthood and includes behavioral and personality changes, depression and psychosis. However, self-mutilation has not been previously described. Case report: We attend to two sisters with a unique clinical presentation. The first patient, 33 years old, presented epilepsy at 17, in addition to cogni

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Silva, Tarcisio Rubens da, Rayana Elias Maia, and Taísa de Abreu Marques Nogueira. "Progressive thoracolumbar scoliosis culminating in the diagnosis of young pompe disease: case report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.044.

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Introduction: Pompe’s disease is a neuromuscular condition caused by a metabolic disorder of autosomal recessive inheritance. The deficit of acid alpha-glucosidase causes accumulation of glycogen in the lysosomes of the striated and cardiac muscle. It presents in childhood: hypotonia and cardiorespiratory impairment; but at late-onset: axial and waist muscle weakness. Case report: Patient, female, 20 years old, non-consanguineous parents, with good intra-uterus fetal mobility, was born by cesarean delivery weighing 3.7 kilograms and 51 centimeters. She first walked without support and spoke he

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Barros, Eduarda Pereira de, Fábio Lima Baggio, Bruna Giaretta Ventorin, Amanda Raminelli Morceli, and Diogo Fraxino de Almeida. "Pompe disease: case report in siblings." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.270.

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Introduction: Pompe disease (PD) affects lysosomal digestion due to absence or low action of the enzyme acid α-glucosidase (GAA), with accumulation of glycogen, causing overflow of enzymes and autophagy, which affects striated muscle. PD is divided into infantile, juvenile, and adult clinical forms, with severity determined by amount of residual GAA activity. Case: P1) 45-year-old man admitted with acute respiratory failure (RF), starts mechanical ventilation. History of weakness, dyspnea, dysphagia. He had decreased proximal muscle strength at lower limbs (LL). Sequencing of GAA gene: autosom

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Alvarenga, Tarcísio Nunes, Patrick Emanuell Mesquita Sousa Santos, Ana Beatriz Marangoni Baston, et al. "Primary coenzyme Q10 (COQ10) deficiency: clinical presentation of a new variant in COQ7 gene." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.613.

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Cases reports: Two females from different families, 34 and 16 years old, who started at puberty with distal weakness in lower limbs and difficulty in walking. The youngest had a history of parental consanguinity. The oldest also developed symptoms of cerebellar ataxia. Both patients had joint hypermobility. After physical exercise, both showed increased serum levels of creatine phosphokinase, but only one of them showed increased lactate. Both electroneuromyography showed motor neuropathy, predominantly in lower limbs, with axonal and demyelinating pathophysiology, with probable superimposed p

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Farias, Igor Braga, Bruno de Mattos Lombardi Badia, Gustavo Carvalho Costa, et al. "Clinical and genetic profile of Brazilian patients with dysferlinopathies – A retrospective study." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.054.

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Introduction: Dysferlinopathies are a group of conditions that are caused by mutations in the dysferlin gene. Objectives: To characterize the clinical phenotypes and genotypic spectrum of dysferlinopathies patients and to estimate the progression of functional and motor decline. Design and setting: Retrospective analysis of the medical records of patients followed up at our institution between 1995 and 2020. Methods: Patients were selected based on the following inclusion criteria:(i) Identification of a mutation defined as pathogenic in homozygosis or compound heterozygosis in the Dysf gene;o

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Wu, Q. Y., B. R. Bahnak, L. Coulombel, J. P. Caen, G. Pietu, and D. Meyer. "VON WILLEBRAND FACTOR mRNA IS SEVERELY REDUCED IN PIGS WITH HOMOZYGOUS VON WILLEBRAND DISEASE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644113.

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Porcine von Willebrand disease (vWD), an autosomal recessive disorder, is similar to some of the severe forms of vWD in humans and is characterized by a prolonged bleeding time and very low or undetectable amounts of von Willebrand factor (vWF) antigen and activity in plasma, platelets and endothelial cells. The molecular events that control the lack of expression of vWF in the vWD pigs is not known and could be at the transcriptional or post-transcriptional level. Lungs from normal and two homozygous vWD pigs were extracted immediately after harvesting of the animals and placed on dry ice. Ti

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