This study aimed to assess the prevalence of familial aggregation of insulin-dependent diabetes mellitus (IDDM), among Danish families with a diabetic child and to compare epidemiological data for familial and sporadic cases of IDDM children. All IDDM patients aged 19 years or less treated at paediatric departments or departments of internal medicine were identified and asked to complete a questionnaire regarding diabetes onset and family history. Of 1574 probands identified, 1419 participated (90.2%). Additional cases of IDDM were found in 12.8% of the families. Among these families, in 6.8% the father and in 2.1% the mother were diabetics and in 5.0% at least one of the siblings were diabetics. In familial cases the proband was significantly younger at diabetes onset, the parents were younger at birth of the IDDM child and no differences in gender were observed in contrast to sporadic cases, where more males were found. Thus, heterogeneity in epidemiological characteristics was observed between familial and sporadic cases.
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J Clin Virol
January 2025
Virology department, Institut Pasteur de Dakar, 36. Avenue Pasteur Dakar, Dakar 220, Senegal.
Hepatitis E virus (HEV) is the most common cause of acute viral hepatitis, responsible for large outbreaks in resource limited countries. The virus belongs to the genus Orthohepevirus which is subdivided into eight distinct genotypes (HEV-1 to HEV-8). Human disease transmission is mostly through the faecal-oral route.
View Article and Find Full Text PDFCerebellum
January 2025
Genetics Department, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Insurgentes Sur 3877. La Fama, Tlalpan, 14269, Mexico City, Mexico.
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant (AD) neurodegenerative disorder prevalent in the Americas, particularly in Mexico. Clinical manifestations include progressive ataxia and epilepsy. However, it can exhibit wide phenotypic variability and even reduced penetrance.
View Article and Find Full Text PDFClin Cancer Res
January 2025
Brigham and Women's Hospital, Boston, United States.
Purpose: Cardiac angiosarcoma (CAS) is a rare, aggressive malignancy with limited treatment options. Both sporadic and familial cases occur, with recent links to germline POT1 mutations. The genomic landscape of this disease is poorly understood.
View Article and Find Full Text PDFJ Glob Antimicrob Resist
January 2025
Microbiology Unit, Clinical Pathology Department, Piacenza General Hospital, Piacenza, Italy; Medicine and Surgery Department, University of Parma, Parma, Italy.
Objectives: Infections by Carbapenem-Resistant Enterobacterales in hospitals represent a severe threat but little is known on outbreaks in rehabilitation wards caused by Klebsiella pneumoniae producing Klebsiella pneumoniae Carbapenemase (KPC-Kp). We report an outbreak by KPC-Kp, in a Neurorehabilitation Unit in Italy, analysed through Whole-Genome Sequencing (WGS) for transmission routes reconstruction to improve management of KPC-Kp infections in rehabilitation units.
Methods: We investigated cases and KPC-Kp isolates collected from February to October 2022 from hospital surveillance.
Ann Endocrinol (Paris)
January 2025
Univ. Lille, Inserm, CHU Lille, U1286 - Infinite, F-59045 Lille Cedex, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France. Electronic address:
Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion.
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