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Journal articles on the topic 'Age-associated syndromes'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Maetzler, Walter, Michael Drey, and Andreas H. Jacobs. "Sarkopenie und Frailty in der Neurologie. [Sarcopenia and frailty in neurology; Article in German]." Nervenarzt 86, no. 4 (2015): 420–30. https://doi.org/10.1007/s00115-014-4181-9.

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Sarcopenia and frailty are common geriatric syndromes and are associated with adverse health outcome and impaired health-related quality of life. Co-occurrences of these two syndromes with age-related neurological diseases are potentially high but not well investigated. Moreover, it is not well understood how these syndromes interact with neurological diseases, such as Parkinson's disease, Alzheimer's disease and stroke. This article introduces the currently most accepted concepts of sarcopenia and frailty, discusses the potential relevance of the syndromes for geriatric patients and p

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Watanabe, Takafumi, Shu Soeda, Yuta Endo, et al. "Rare Hereditary Gynecological Cancer Syndromes." International Journal of Molecular Sciences 23, no. 3 (2022): 1563. http://dx.doi.org/10.3390/ijms23031563.

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Hereditary cancer syndromes, which are characterized by onset at an early age and an increased risk of developing certain tumors, are caused by germline pathogenic variants in tumor suppressor genes and are mostly inherited in an autosomal dominant manner. Therefore, hereditary cancer syndromes have been used as powerful models to identify and characterize susceptibility genes associated with cancer. Furthermore, clarification of the association between genotypes and phenotypes in one disease has provided insights into the etiology of other seemingly different diseases. Molecular genetic disco

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Zhmyleva, Polina V. "Episodic syndromes associated with migraine (clinical and epidemiological study in pediatric practice)." Tambov Medical Journal 6, no. 2 (2024): 47–76. http://dx.doi.org/10.20310/2782-5019-2024-6-2-47-76.

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Abstract. Episodic syndromes of childhood that may be associated with migraine is an understudied condition rarely diagnosed in pediatric practice. The features of course in children of different age groups are not well described. The research purpose is to analyze the prevalence and characteristics of the course of childhood equivalents of migraine in children of various age groups in pediatric practice. Materials and methods. The study included the 1st (main) group of 250 children (120 (48 %) girls and 130 (52 %) boys) aged from 5 to 18 years (mean age – 13 (2.9) years, median age – 13 (11‒1

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Tikhonovich, Yulia V., Oleg A. Malievsky, and Anatoly Tyul'pakov. "Description of the first genetically confirming case with Donahue’s syndrome in Russia." Problems of Endocrinology 62, no. 2 (2016): 42–45. http://dx.doi.org/10.14341/probl201662242-45.

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Syndrome Donahue (leprechaunism) is a rare form of neonatal diabetes mellitus associated with INSR gene mutations. There are three types of insulin resistance syndrome: Donohue syndrome, Rabson—Mendenhall syndrome and insulin resistance type A. These syndromes are distinguished from one another by severity of symptoms, age of onset and age of death. Donohue and Rabson—Mendenhall syndromes are associated with biallelic mutations in the α-subunit or/and β-subunit of INSR gene and are characterized by more severe phenotype and poor prognosis. Patients with Donohue syndrome usually die within the

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Bihunyak, T. V., Yu I. Bondarenko, O. O. Кulyanda, S. M. Charnosh, A. S. Sverstiuk, and K. O. Bihuniak. "CHROMOSOMAL DISEASES IN THE HUMAN PATHOLOGY." International Journal of Medicine and Medical Research 6, no. 1 (2020): 50–60. http://dx.doi.org/10.11603/ijmmr.2413-6077.2020.1.11501.

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Background. Chromosomal diseases are the cause of 45-50 % of multiple birth defects. Basic research on mutations is performed using genomic technologies to identify a correlation between genotype and phenotype in aneuploidies and to understand its pathogenesis. Objective. The aim of the research is to study the etiology, pathogenesis of symptoms and diagnostics for patients with Down, Klinefelter, Turner syndromes and double aneuploidies by 21 and sex chromosomes. Methods. A literature review by the keywords “Down syndrome”, “Klinefelter syndrome”, “Turner syndrome”, “double aneupl

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Reilly, Colin, Lelia Murtagh, and Joyce Senior. "Factors Associated with Age of Diagnosis in Four Neurogenetic Syndromes." Journal of Policy and Practice in Intellectual Disabilities 14, no. 3 (2017): 180–86. http://dx.doi.org/10.1111/jppi.12202.

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Kozlova, Valentina M., Ekaterina E. Zelenova, Timur T. Valiev, Vera V. Semenova, Tatiana N. Nasedkina, and Svetlana N. Mikhailova. "Hereditary syndromes in pediatric hematooncology." Pediatric pharmacology 20, no. 6 (2024): 557–73. http://dx.doi.org/10.15690/pf.v20i6.2665.

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Hematooncological diseases head the list in the structure of malignant neoplasms of childhood. Somatic mutations in tumor clone cells have been well studied, included in modern classifications, and are used to stratify patients into prognostic risk groups and select a therapy program. At the same time, more than 50 hereditary syndromes associated with the development of hemoblastoses have been described. Some of them (Down’s syndrome, Klinefelter’s syndrome, microdeletion syndromes et al.) are caused by chromosomal pathology, while others describe alterations of one or more genes with differen

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Ivanova, N. V., E. E. Zelenova, V. G. Polyakov, et al. "Familial DICER1 syndrome with thyroid pathology. A series of clinical cases." Russian Journal of Pediatric Hematology and Oncology 10, no. 4 (2024): 49–60. http://dx.doi.org/10.21682/2311-1267-2023-10-4-49-60.

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Thyroid diseases in childhood occupy the second place after obesity in the structure of the general pathology of the endocrine system, eating disorders and metabolic disorders in children in the Russian Federation. Thyroid cancer in children makes up from 1.5 to 3 % of all malignant tumors, and from 8 to 22 % of malignant solid tumors of the head and neck, and the younger the child’s age, the more aggressive the disease proceeds.Familial forms of thyroid diseases may be associated with geographical features (living in iodine-deficient regions), but may also be part of hereditary syndromes, suc

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Papadopoulou-Marketou, Nektaria, Marina Tsoli, Eleftherios Chatzellis, Krystallenia I. Alexandraki, and Gregory Kaltsas. "Hereditary Syndromes Associated with Pancreatic and Lung Neuroendocrine Tumors." Cancers 16, no. 11 (2024): 2075. http://dx.doi.org/10.3390/cancers16112075.

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Pancreatic neuroendocrine tumors (PanNETs) and lung NETs (LNETs) represent a rare but clinically significant subgroup of neoplasms. While the majority is sporadic, approximately 17% of PanNETs and a subset of LNETs develop in the context of monogenic familial tumor syndromes, especially multiple endocrine neoplasia type 1 (MEN1) syndrome. Other inherited syndromes associated with PanNETs include MEN4, von Hippel–Lindau (VHL) syndrome, neurofibromatosis type 1 (NF1), and tuberous sclerosis complex (TSC). These syndromes are highly penetrant and their clinical manifestations may vary even among

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Khan, Sonia, and Raidah Al Baradie. "Epileptic Encephalopathies: An Overview." Epilepsy Research and Treatment 2012 (November 20, 2012): 1–8. http://dx.doi.org/10.1155/2012/403592.

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Epileptic encephalopathies are an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized. These syndromes include early myoclonic encephalopathy and Ohtahara syndrome in the neonatal period, West syndrome and Dravet syndrome in infancy, myoclonic status in nonprogressive encephalopathies, and Lennox-Gastaut syndrome, Landau-Kleffner syndrome, and epilepsy with continuous spike waves during slow wave sle

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Kampitsi, Christina-Evmorfia, Ann Nordgren, Hanna Mogensen, Emeli Pontén, Maria Feychting, and Giorgio Tettamanti. "Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden." JAMA Network Open 6, no. 7 (2023): e2325482. http://dx.doi.org/10.1001/jamanetworkopen.2023.25482.

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ImportanceNeurocutaneous syndromes are associated with cancer predisposition and sometimes associated with perinatal factors. A better understanding of the association between neurocutaneous syndromes, perinatal factors, and childhood cancer is key for earlier cancer detection.ObjectiveTo evaluate the association of neurocutaneous syndromes and perinatal factors with childhood cancer risk in a cohort of Swedish children.Design, Setting, and ParticipantsIn this nationwide cohort study, all children and adolescents up to age 20 years, from 1973 to 2015, were identified through the Swedish Nation

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Oved, Joseph H., Daria V. Babushok, Michele P. Lambert, et al. "Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes." Blood Advances 4, no. 20 (2020): 5232–45. http://dx.doi.org/10.1182/bloodadvances.2020002687.

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Abstract Inherited bone marrow failure (IBMF) syndromes are rare blood disorders characterized by hematopoietic cell dysfunction and predisposition to hematologic malignancies. Despite advances in the understanding of molecular pathogenesis of these heterogeneous diseases, genetic variant interpretation, genotype–phenotype correlation, and outcome prognostication remain difficult. As new IBMF and other myelodysplastic syndrome (MDS) predisposition genes continue to be discovered (frequently in small kindred studies), there is an increasing need for a systematic framework to evaluate penetrance

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Harju, Samuli, Antti Saari, Reijo Sund, and Ulla Sankilampi. "Epidemiology of disorders associated with tall stature in childhood: A 20-year birth cohort study." PLOS ONE 20, no. 4 (2025): e0321798. https://doi.org/10.1371/journal.pone.0321798.

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Many primary and secondary disorders in childhood may cause tall stature (height of +2 standard deviations above the mean height for age and sex). Growth-monitoring programs are aimed at early detection of such disorders to avoid permanent health consequences and support children’s wellbeing. However, age- and sex-specific data on the incidence of disorders associated with tall stature are scarce. This retrospective population-based cohort study aims to specify the epidemiological data that are needed to develop better diagnostic practices. The study population included 1 144 503 children (51%

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Escudero, Domingo, Mar Guasp, Helena Ariño, et al. "Antibody-associated CNS syndromes without signs of inflammation in the elderly." Neurology 89, no. 14 (2017): 1471–75. http://dx.doi.org/10.1212/wnl.0000000000004541.

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Objective:To report the CNS syndromes of patients ≥60 years of age with antibodies against neuronal surface antigens but no evidence of brain MRI and CSF inflammatory changes.Methods:This was a retrospective clinical analysis of patients with antibodies against neuronal surface antigens who fulfilled 3 criteria: age ≥60 years, no inflammatory abnormalities in brain MRI, and no CSF pleocytosis. Antibodies were determined with reported techniques.Results:Among 155 patients ≥60 years of age with neurologic syndromes related to antibodies against neuronal surface antigens, 35 (22.6%) fulfilled the

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Hatti, Ramesh B., Ashok V. Badakali, R. N. Vanaki, and VijayMahantesh S. Samalad. "Mckusick-Kaufman Syndrome Presenting as Acute Intestinal Obstruction." Journal of Neonatal Surgery 2, no. 1 (2013): 7. http://dx.doi.org/10.47338/jns.v2.19.

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Hydrometrocolpos and polydactyly have been associated with many syndromes and can present at any age. Rarely does hydrometrocolpos present as neonatal intestinal obstruction. We report two cases of McKusick-Kaufman syndrome presenting with intestinal obstruction. In both cases, intestinal obstruction got relieved after a cutaneous vaginostomy.

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Tonning Olsson, Ingrid. "QOL-22. Neurocognitive performance in survivors of pediatric brain tumors with neurocutaneous syndromes." Neuro-Oncology 24, Supplement_1 (2022): i138. http://dx.doi.org/10.1093/neuonc/noac079.505.

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Abstract BACKGROUND: Pediatric brain tumors (PBT) in children with neurocutaneous syndromes are typically low-grade and survival rates are close to 100%. Neurocutaneous syndromes are associated with neurocognitive and behavioral problems, and a diagnosis of brain tumor adds to the total neurocognitive burden. The aim of this study was to describe neurocognitive performance in survivors of PBT with a neurocutaneous syndrome and to find associated factors. METHOD: Neurocognitive data (verbal and non-verbal reasoning, cognitive processing speed, working memory, and executive function) on 20 survi

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Bazarnyy, Vladimir, Yuliya Mandra, Larisa Polushina, Elena Semencova, and Maksim Kopenkin. "THE SIGNIFICANCE OF ORAL FLUID MARKERS IN THE CELLULAR AGING EVALUATION IN GERONTOSTOMATOLOGICAL SYNDROMES." Actual problems in dentistry 19, no. 2 (2023): 11–15. http://dx.doi.org/10.18481/2077-7566-2023-19-2-11-15.

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This study is devoted to the study of biomarkers of aging in oral fluid in age-associated dental diseases. 63 patients were examined, who were divided into three groups depending on the clinical syndrome: group 1 – occlusive syndrome (increased tooth abrasion, wedge-shaped defects), group 2 – inflammatory periodontal syndrome (chronic generalized periodontitis), group 3 – dystrophic syndrome (leukoplakia, candidiasis stomatitis). The age of patients in these groups was 60–74 years, which corresponds to an elderly age. The control group included 20 healthy volunteers under the age of 40. The co

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Migliaccio, R., F. Agosta, K. Rascovsky, et al. "Clinical syndromes associated with posterior atrophy: Early age at onset AD spectrum." Neurology 73, no. 19 (2009): 1571–78. http://dx.doi.org/10.1212/wnl.0b013e3181c0d427.

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Ridgway, G. R., and M. Luisa Gorno-Tempini. "CLINICAL SYNDROMES ASSOCIATED WITH POSTERIOR ATROPHY: EARLY AGE AT ONSET AD SPECTRUM." Neurology 75, no. 5 (2010): 479–80. http://dx.doi.org/10.1212/wnl.0b013e3181e794d5.

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Lypas, Georgios, Elizabeth J. Root, Suzanne George, et al. "Features of familiality in a cohort of patients (pts) with sarcoma." Journal of Clinical Oncology 30, no. 15_suppl (2012): 1547. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.1547.

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1547 Background: Sarcomas occur in a number of cancer predisposition syndromes, yet genetic evaluation is rarely recommended for sarcoma pts. We broadly reviewed the family cancer histories of unselected pts in a tertiary center sarcoma clinic to explore the potential relevance of genetic assessment. Methods: Between 2005 and 2008, 397 pts (median age 52 years) with documented sarcoma who consented to research use of medical records and tissues also completed a family history questionnaire. Patient and family histories were reviewed for features suggesting hereditary risk (e.g. early age at di

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Mastrodomenico, Luciana, Claudia Piombino, Beatrice Riccò, et al. "Personalized Systemic Therapies in Hereditary Cancer Syndromes." Genes 14, no. 3 (2023): 684. http://dx.doi.org/10.3390/genes14030684.

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Hereditary cancer syndromes are inherited disorders caused by germline pathogenic variants (PVs) that lead to an increased risk of developing certain types of cancer, frequently at an earlier age than in the rest of the population. The germline PVs promote cancer development, growth and survival, and may represent an ideal target for the personalized treatment of hereditary tumors. PARP inhibitors for the treatment of BRCA and PALB2-associated tumors, immune checkpoint inhibitors for tumors associated with the Lynch Syndrome, HIF-2α inhibitor in the VHL-related cancers and, finally, selective

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Yang, Jili, Haiyan Lu, Niancai Jing, et al. "Traditional Chinese Medicine Syndromes are Associated with Driver Gene Mutations and Clinical Characteristics in Patients with Lung Adenocarcinoma." Evidence-Based Complementary and Alternative Medicine 2022 (October 7, 2022): 1–8. http://dx.doi.org/10.1155/2022/9905868.

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This study aimed to investigate the associations between traditional Chinese medicine (TCM) syndromes and driver gene mutations as well as the clinical characteristics of patients with lung adenocarcinoma. We performed a cross-sectional study in patients with lung adenocarcinoma between June 2020 and October 2021. The patient characteristics, such as age, sex, smoking history, clinical stage, metastasis, driver gene mutations, and the type of traditional Chinese medicine syndrome/element, were collected. The associations between each TCM syndrome and sex, smoking history, clinical stage, metas

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Moavero, Romina, Laura Papetti, Maria Chiara Bernucci, et al. "Cyclic vomiting syndrome and benign paroxysmal torticollis are associated with a high risk of developing primary headache: A longitudinal study." Cephalalgia 39, no. 10 (2019): 1236–40. http://dx.doi.org/10.1177/0333102419844542.

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Background and aim Episodic syndromes that may be associated with migraine are a group of disorders affecting patients with migraine or with an increased risk of presenting it, and likely represent an early life expression of migraine. Cyclic vomiting syndrome and benign paroxysmal torticollis are well characterized and represent a frequent cause of request for specialist consultations. The aim of this study is to longitudinally assess the rate of headache in patients presenting with cyclic vomiting syndrome and benign paroxysmal torticollis during infancy, and to define the main clinical feat

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Freeman, Alexandra F., and Steven M. Holland. "Clinical Manifestations of Hyper IgE Syndromes." Disease Markers 29, no. 3-4 (2010): 123–30. http://dx.doi.org/10.1155/2010/580197.

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Over the last 4 years, three genetic etiologies of hyper IgE syndromes have been identified: STAT3, DOCK8, and Tyk2. All of these hyper IgE syndromes are characterized by eczema, sinopulmonary infections, and greatly elevated serum IgE. However, each has distinct clinical manifestations. Mutations in STAT3 cause autosomal dominant HIES (Job’s syndrome), which is unique in its diversity of connective tissue, skeletal, and vascular abnormalities. DOCK8 deficiency is characterized by severe cutaneous viral infections such as warts, and a predisposition to malignancies at a young age. Only one ind

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Abdelmoula, Nouha Bouayed, and Balkiss Abdelmoula. "NFS-04. GENETIC COUNSELLING IN A MULTI-TUMOR PREDISPOSITION SYNDROME: A NOVEL FOUR-GENERATION TUNISIAN PEDIGREE." Neuro-Oncology 26, Supplement_4 (2024): 0. http://dx.doi.org/10.1093/neuonc/noae064.562.

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Abstract BACKGROUND Cancer predisposition syndromes associated with an increased risk of CNS tumors and colorectal polyposis are heterogeneous inherited disorders associated with multiples genes. The delineation of the inheritance pattern and the management of the genetic testing are recommended for optimal care of patients and their families. Our aim was to report a cancer predisposition brain tumor-polyposis syndrome in a four-generation Tunisian consanguineous pedigree characterized by uncommon tumors localizations. METHODS The index case was a 43-year-old infertile woman presented to our g

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Okarska-Napierała, Magdalena, Kamila Ludwikowska, Leszek Szenborn, et al. "Pediatric Inflammatory Multisystem Syndrome (PIMS) Did Occur in Poland during Months with Low COVID-19 Prevalence, Preliminary Results of a Nationwide Register." Journal of Clinical Medicine 9, no. 11 (2020): 3386. http://dx.doi.org/10.3390/jcm9113386.

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Pediatric inflammatory multisystem syndrome (PIMS) is a new entity in children, likely associated with previous coronavirus disease 19 (COVID-19) infection. Most of the reports about PIMS come from countries particularly hit by the COVID-19 pandemic. Our aim was to investigate the nature of inflammatory syndromes in Poland (country with low COVID-19 prevalence) and to perceive the emergence of PIMS in our country. On 25 May 2020, we launched a nationwide survey of inflammatory syndromes in children for retrospective (since 4 March 2020) and prospective data collection. Up to 28 July, 39 report

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Evdokimova, Anna G., Liudmila V. Zhukolenko, Olga A. Shuiskaia, and Elena V. Kiiakbaeva. "Brugada syndrome in the practice of a cardiologist. Case report." CardioSomatics 12, no. 1 (2021): 54–58. http://dx.doi.org/10.26442/22217185.2021.1.200773.

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Cardiovascular mortality occupies a leading position in the structure of total mortality. Brugada syndrome is one of the syndromes associated with the risk of sudden non-coronary death at a young age. However, the prevalence of this syndrome and its clinical manifestations are underestimated due to low detectability. This article presents a clinical case of the diagnosis of Brugada syndrome with the installation of a cardioverter-defibrillator in the practice of a cardiologist and a brief literature review of this syndrome.

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Cravello, Luca, Katie Palmer, Giovanni de Girolamo, Carlo Caltagirone, and Gianfranco Spalletta. "Neuropsychiatric symptoms and syndromes in institutionalized elderly people without dementia." International Psychogeriatrics 23, no. 3 (2010): 425–34. http://dx.doi.org/10.1017/s1041610210001304.

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ABSTRACTBackground: Neuropsychiatric disorders are mainly studied in people with dementia but estimates are still not available for institutionalized elderly people without dementia. The aim of this work was to investigate neuropsychiatric syndromes in non-demented elderly people living in residential facilities (RFs).Methods: Data from the PROGRES-Older people project, including 95 RFs in Italy, were analyzed. From a total of 1215 people, 252 without dementia were recruited. Behavioral syndromes were identified using both factor and cluster analysis of results from the 12-item Neuropsychiatri

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Darra, Francesca, Bernardo Bernardina, Natalio Fejerman, and Roberto Caraballo. "Clinical and EEG Features of Idiopathic Focal Epilepsies in Childhood." Journal of Pediatric Epilepsy 05, no. 03 (2016): 116–21. http://dx.doi.org/10.1055/s-0036-1584669.

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The International League Against Epilepsy (ILAE) report lists three well-defined syndromes of idiopathic focal epilepsies in childhood: benign childhood epilepsy with centrotemporal spikes (BCECTS), Panayiotopoulos syndrome (PS), and idiopathic childhood occipital epilepsy of Gastaut (ICOE-G). The concept of idiopathic and benign focal epilepsies in childhood is relevant as the term implies absence of structural brain lesions and genetic predisposition in the presence of age-dependent seizures. BCECTS is the most frequent of the benign focal epilepsies in childhood accounting for 15 to 25% of

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Limpawattana, Panita, Kusuma Phimson, Aumkhae Sookprasert, Wichien Sirithanaphol, and Jarin Chindaprasirt. "Prevalence of Geriatric Syndromes in Elderly Cancer Patients Receiving Chemotherapy." Current Gerontology and Geriatrics Research 2020 (February 22, 2020): 1–5. http://dx.doi.org/10.1155/2020/9347804.

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The number of elderly patients with cancer is growing. Our study goals were to determine the prevalence of geriatric syndromes in elderly cancer patients receiving chemotherapy and its related factors using a basic geriatric screening tool. A cross-sectional study using the basic geriatric screening tool was conducted to survey geriatric problems in a population of elderly cancer patients receiving chemotherapy. There were 85 participants who were ≥60 years old. Descriptive statistics and regression analyses were used. The prevalence of having at least one geriatric syndrome was 58.8% (50 out

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Mamedova, Elizaveta O., Natalya G. Mokrysheva, and Liudmila Ya Rozhinskaya. "Characteristics of primary hyperparathyroidism in young patients." Problems of Endocrinology 64, no. 3 (2018): 163–69. http://dx.doi.org/10.14341/probl9399.

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Primary hyperparathyroidism (PHPT) is well studied in elderly patients. Studies of PHPT characteristics in children, adolescents, and young adults are rare. In some of these studies, investigators have compared clinical and laboratory characteristics of PHPT between young and elderly patients and revealed several differences. An early onset of PHPT may indicate familial syndromes associated with PHPT. These include: multiple endocrine neoplasia syndrome type 1, type 2A, and type 4, hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia, and familial isolated hyperparathyr

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Yena, Larisa, Ganna Khrystoforova, Olga Garkavenko, Liubov Bevziuk, Olena Kuprash, and Olena Moskalenko. "Assessment of physical and mental disorders in dependence of the age based on geriatric screening." Issue 3 2023, no. 3 2023 (November 21, 2023): 98–103. http://dx.doi.org/10.47855/jal9020-2023-3-4.

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The multidimensional specific disorders search in elderly patients is determined by their complex clinical profile due to multimorbidity, polypharmacy, functional decline and geriatric syndromes. The purpose of this research was to assess the frequency of symptoms of physical and mental disorders in dependence of age in multimorbidity elderly patients based on self-survey. 398 patients aged 50-89 were interviewed using the original "Geriatric Assessment" questionnaire. The answers to questions concerning physical and mental state, sensory deficits and chronic pain were analyzed in four groups

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ANDRADE, Denise O., Alexandre Rodrigues FERREIRA, Paulo Fernando S. BITTENCOURT, Daniela F. P. RIBEIRO, Rodrigo Gomes da SILVA, and Luiz Ronaldo ALBERTI. "CLINICAL, EPIDEMIOLOGIC, AND ENDOSCOPIC PROFILE IN CHILDREN AND ADOLESCENTS WITH COLONIC POLYPS IN TWO REFERENCE CENTERS." Arquivos de Gastroenterologia 52, no. 4 (2015): 303–10. http://dx.doi.org/10.1590/s0004-28032015000400010.

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Background - The main goal of this paper is to investigate the frequency, clinical profile, and endoscopic findings of children and teenagers submitted to colonoscopies. Methods - Patients of below 18 years of age, diagnosed with polyps by means of colonoscopies at two reference centers of pediatric endoscopy were followed-up between 2002 and 2012. The clinical variables evaluated in this study included: gender, recommendation of colonoscopy, associated signs and symptoms, age of onset of symptoms, age at identification of the polyp, interval of time between the onset of symptoms and the endos

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Al Mosawi, Aamir Jalal. "The case number 506 of Mostyn Embrey Syndrome: Imaging Studies and Ethics of Naming Syndromes." Biomedical Research and Clinical Reviews 4, no. 5 (2021): 01–17. http://dx.doi.org/10.31579/2692-9406/077.

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Background: Mostyn Embrey syndrome is a rare disorder associated with unilateral renal agenesis and malformations of the female reproductive tract. Delayed diagnosis is associated with serious diagnostic difficulties that may lead to inappropriate management including harmful surgery. The aim of this paper is to present imaging studies of case number 506 of the syndrome which was the first case of this rare syndrome in Iraq, and was originally reported in 2016. Ethics of naming syndromes relevant to this syndrome is discussed. Patients and methods: An 18-year-old female presented with acute ab

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Štellmachová, Júlia, Petr Vrtěl, Radek Vrtěl, et al. "Ovarian tumors and genetic predisposition." Česká gynekologie 87, no. 3 (2022): 211–16. http://dx.doi.org/10.48095/cccg2022211.

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Objective: Summary of knowledge in the field of ovarian cancer and genetic predisposition. Results: Ovarian tumors are usually diagnosed at advanced stages of the disease and the prognosis for these patients is generally poor. The 5-year overall survival rate, regardless of the histopathological type of tumor, is around 44%. Germline mutations causing hereditary tumor syndromes are predominantly involved in the development of epithelial ovarian tumors. The most common is hereditary breast and ovarian cancer syndrome, which is caused by germline mutations in the tumor suppressor genes BRCA1 and

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Andreeva, Elvira F., and Nadezhda D. Savenkova. "Phenotype of cystic kidney disease in children with orphan diseases and hereditary syndromes due to genetic or chromosomal pathology (description of 9 clinical cases)." Pediatrician (St. Petersburg) 15, no. 5 (2024): 99–109. https://doi.org/10.17816/ped15599-109.

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The use of DNA diagnostics makes it possible to clarify the clinical diagnosis of hereditary kidney disease, determine a personalized treatment strategy, and predict the patient’s health status. Kidney cysts with orphan syndromes and chromosomal mutations are characterized by a high risk of progression of chronic kidney disease to end–stage renal failure in childhood. In 9 patients aged 4 months — 17 years (6 girls and 3 boys) with cystic kidney disease in orphan diseases and hereditary syndromes, assessed the features of the phenotype, the progression of chronic kidney disease. Children over

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Abufaraj, Mohammad, Raghad Ramadan, and Amro Alkhatib. "Paraneoplastic Syndromes in Neuroendocrine Prostate Cancer: A Systematic Review." Current Oncology 31, no. 3 (2024): 1618–32. http://dx.doi.org/10.3390/curroncol31030123.

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Neuroendocrine prostate cancer (NEPC) is a rare subtype of prostate cancer (PCa) that usually results in poor clinical outcomes and may be accompanied by paraneoplastic syndromes (PNS). NEPC is becoming more frequent. It can initially manifest as PNS, complicating diagnosis. Therefore, we reviewed the literature on the different PNS associated with NEPC. We systematically reviewed English-language articles from January 2017 to September 2023, identifying 17 studies meeting PRISMA guidelines for NEPC and associated PNS. A total of 17 articles were included in the review. Among these, Cushing’s

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Kungurtseva, A. L., and A. V. Vitebskaya. "Differential Diagnosis of Progeroid Neonatal Syndrome." Doctor.Ru 22, no. 7 (2023): 37–42. http://dx.doi.org/10.31550/1727-2378-2023-22-7-37-42.

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Aim. Аnalysis and synthesis of the literature data on the problem of differential diagnosis of neonatal progeroid syndrome. Key points. One of the rarest representatives of premature aging syndromes is neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome). It is an ultra-orphan disease with autosomal recessive type of inheritance, associated with a mutation in the POLR3A, POLR3B, POLR3GL genes and characterized by congenital lipodystrophy and premature aging. The disease manifests from the first days of life: low body length and weight at birth, pronounced phenotypic features (pseudoh

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Limpawattana, Panita, Kittisak Sawanyawisuth, Suvanee Soonpornrai, and Wilawan Huangthaisong. "Prevalence and recognition of geriatric syndromes in an outpatient clinic at a tertiary care hospital of Thailand." Asian Biomedicine 5, no. 4 (2011): 493–97. http://dx.doi.org/10.5372/1905-7415.0504.064.

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Abstract Background: Geriatric syndromes are a series of clinical conditions in the elderly that do not fit into distinct categories. They affect the quality of life of a patient and are associated with disability. Objectives: This study determined the prevalence of geriatric syndromes in an Internal Medicine Outpatient setting. It compared the prevalence of each geriatric syndrome when using a comprehensive geriatric assessment versus the routine medical assessment. Methods: One hundred twenty elderly patients of the Internal Medicine Outpatient Clinic of Srinagarind Hospital Medical School w

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Koniaeva, E. S., and I. D. Strazhesko. "The Impact of Lipid and Glucose Metabolism Disorders on Geriatric Syndromes." Problems of Geroscience, no. 4 (November 30, 2023): 185–92. http://dx.doi.org/10.37586/2949-4745-4-2023-185-192.

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In people over 60 years, the most common diseases are the cardiovascular system and geriatric syndromes. Dyslipidemia and hyperglycemia are traditional cardiovascular risk factors. However, their impact on the major geriatric syndromes development among people over 60 years remains unclear. The relationship between the presence of diabetes mellitus type 2 and the development of frailty, sarcopenia, cognitive impairment depends on age. With increasing age, the influence of chronic hyperglycemia on geriatric syndromes decreases and in centenarians it acquires a neutral role. Recent studies have

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Glazer, William M., Hal Morgenstern, Donna Niedzwiecki, and Jeffrey Hughes. "Heterogeneity of Tardive Dyskinesia." British Journal of Psychiatry 152, no. 2 (1988): 253–59. http://dx.doi.org/10.1192/bjp.152.2.253.

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To determine whether tardive dyskinesia (TD) is a single abnormal movement syndrome or multiple syndromes involving different anatomical areas, we examined 228 out-patients diagnosed with TD at the Connecticut Mental Health Center in New Haven. Application of factor analysis to the seven anatomical severity scores of the Abnormal Involuntary Movement Scale yielded three statistically independent factors involving abnormal movements primarily of the jaw-tongue, face-lips, and extremities-trunk. Using logistic regression to predict the severity of these factors, we found that the severity of the

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Fulinara, Christian P., Alina Huynh, Deena Goldwater, Basmah Abdalla, and Joanna Schaenman. "Frailty and Age-Associated Assessments Associated with Chronic Kidney Disease and Transplantation Outcomes." Journal of Transplantation 2023 (April 1, 2023): 1–16. http://dx.doi.org/10.1155/2023/1510259.

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Background. Frailty is often defined as a decrease in physiological reserve and has been shown to be correlated with adverse health outcomes and mortality in the general population. This condition is highly prevalent in the chronic kidney disease (CKD) patient population as well as in kidney transplant (KT) recipients. Other age-associated changes include sarcopenia, nutrition, cognition, and depression. In assessing the contributions of these components to patient outcomes and their prevalence in the CKD and KT patient population, it can be determined how such variables may be associated with

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Agafonova, E. V. "Focus on gut microbiota in age-associated body changes." Medical alphabet, no. 9 (June 25, 2021): 44–51. http://dx.doi.org/10.33667/2078-5631-2021-9-44-51.

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Aging is a physiologically programmed process. And the main paradigm of medicine of the future is the preservation of health and functionality in the fight against age-associated diseases as a cause of premature aging. But with what involutive changes can the gut microbiota be associated? After all, it is not bacterial cells that age, but the bacterial composition changes in connection with concomitant diseases. Therefore, it is important to track what changes the gut microbiota undergoes with age using the example of common gerontological syndromes such as changes in innate immunity, sarcopen

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Krylova, IA A., VI I. Kupaev, AL L. Slobodyanyuk, MS S. Nurdina, and OYu Yu Borisov. "PREVALENCE OF ANXIETY AND DEPRESSION SYNDROMES IN CORRELATION WITH MAJOR RISK FACTORS FOR CHRONIC NONINFECTIOUS DISEASES AMONG PATIENTS OF THE SAMARA REGION." Science and Innovations in Medicine 2, no. 4 (2017): 18–22. http://dx.doi.org/10.35693/2500-1388-2017-0-4-18-22.

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Aim - to study the prevalence of syndromes of anxiety and depression in correlation with major risk factors (RF) of chronic noninfectious diseases among patients of the Samara region considering themselves healthy. Materials and methods. A comparative population-based cross-sectional study was based on a representative selection of patients (95 people) from the Samara region (rural and urban population) at the age of 19-68 years. Results. The study revealed a significant increase in the rates of fatigue, anxiety and depression in outpatients. The syndrome of anxiety of subclinical level was de

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Zupanc, Mary L. "Clinical Evaluation and Diagnosis of Severe Epilepsy Syndromes of Early Childhood." Journal of Child Neurology 24, no. 8_suppl (2009): 6S—14S. http://dx.doi.org/10.1177/0883073809338151.

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The developing brain is particularly susceptible to seizures. Diffuse central nervous system pathology or injury in early infancy, when the brain is most vulnerable, may lead to catastrophic epilepsies such as Ohtahara's epileptic encephalopathy and early myoclonic epileptic encephalopathy. These epileptic encephalopathies are difficult to treat and have poor prognoses. As the brain undergoes programmed synaptogenesis, apoptosis, and myelination, the epilepsy phenotypes and electroencephalography (EEG) findings change, producing age-dependent epileptic encephalopathies. Specifically, as they g

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Akter, Naznin, Muhammad Mizanur Rahman, Shaheen Akhter, and Kanij Fatema. "Neuroimaging Findings as a Predictor of Choice of Antiepileptic Drugs for Seizure Control in West Syndrome." Bangladesh Journal of Child Health 42, no. 1 (2018): 9–14. http://dx.doi.org/10.3329/bjch.v42i1.37044.

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Background: West syndrome (WS) is a severe form of encephalopathy that typically affects young infants ranges from 2-3.5/10,000 live births. Approximately 50% causes of Infantile Spasm are associated with prenatal factors that includes congenital CNS malformations, intrauterine insults, neurocutaneous syndromes such as Tuberous sclerosis complex, metabolic disorders or genetic syndromes and have poor prognosis. For early identification of underlying etiology a proper neuroimaging is essential that will also help to predict the outcome. For this reason my study aimed to correlate the presence o

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Lin, Richard J., Patrick D. Hilden, Theresa A. Elko, et al. "Burden and impact of multifactorial geriatric syndromes in allogeneic hematopoietic cell transplantation for older adults." Blood Advances 3, no. 1 (2019): 12–20. http://dx.doi.org/10.1182/bloodadvances.2018028241.

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Abstract Multifactorial geriatric syndromes are highly prevalent in older patients with cancer. Because an increasing number of older patients undergo allogeneic hematopoietic stem cell transplantation (allo-HCT), we examined the incidence and impact of transplant-related geriatric syndromes using our institutional database and electronic medical records. We identified 527 patients age 60 years or older who had undergone first allo-HCT from 2001 to 2016 for hematologic malignancies. From the initiation of conditioning to 100 days posttransplant, new geriatric syndromes were predominantly delir

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Soong, John T. Y., Jurgita Kaubryte, Danny Liew, et al. "Dr Foster global frailty score: an international retrospective observational study developing and validating a risk prediction model for hospitalised older persons from administrative data sets." BMJ Open 9, no. 6 (2019): e026759. http://dx.doi.org/10.1136/bmjopen-2018-026759.

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ObjectivesThis study aimed to examine the prevalence of frailty coding within the Dr Foster Global Comparators (GC) international database. We then aimed to develop and validate a risk prediction model, based on frailty syndromes, for key outcomes using the GC data set.DesignA retrospective cohort analysis of data from patients over 75 years of age from the GC international administrative data. A risk prediction model was developed from the initial analysis based on seven frailty syndrome groups and their relationship to outcome metrics. A weighting was then created for each syndrome group and

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Isaev, R. I., E. A. Mkhitaryan, I. D. Strazhesko, N. M. Vorobyeva, V. S. Ostapenko, and O. N. Tkacheva. "Associations between cognitive status and geriatric syndromes in institutionalized oldest old." Russian neurological journal 28, no. 2 (2023): 46–52. http://dx.doi.org/10.30629/2658-7947-2023-28-2-46-52.

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Oldest old are the fastest growing age group in most countries of the world, including the Russian Federation. Disability and institutionalization in oldest old is associated with an increased risk of cognitive impairment. The relationship between cognitive status and other geriatric syndromes has not been studied sufficiently in institutionalized oldest old.Objective. To assess the relationship between cognitive status and geriatric syndromes in persons ≥ 90 years, who live in long term care facilities (LTCF).Material and methods. The study involved patients aged ≥ 90 years, who were examined

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Kennedy, Alyssa L., and Akiko Shimamura. "Genetic predisposition to MDS: clinical features and clonal evolution." Blood 133, no. 10 (2019): 1071–85. http://dx.doi.org/10.1182/blood-2018-10-844662.

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Abstract Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of age-related somatic mutations, whereas MDS presenting in children and younger adults is more frequently associated with germline genetic predisposition. Germline predisposition is increasingly recognized in MDS presenting at older ages as well. Although each individual genetic disorder is rare, as a group, the genetic MDS disorders account for a significant subset of MDS in children and young adults. Because many patients lack overt syndromic features, genetic testing plays an important role in t

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