Two families with hereditary central diabetes insipidus (CDI) are reported. The pedigree in both families shows an autosomal dominant trait. The plasma arginine-8-vasopressin (AVP) determined by radioimmunoassay was markedly lower in these CDI patients than in healthy controls; the difference being even more pronounced after a hyperosmotic challenge. Since in the present study histamine also failed to increase the plasma AVP concentration, the authors consider it unlikely that an osmoreceptor failure would be implicated in the pathogenesis of CDI in these cases. The AVP concentration of the lumbar cerebrospinal fluid was also measured in two members of one of the families: the level found at the lower normal range indicates that some AVP secretion has been maintained in the extrahypothalamic vasopressinergic system of these patients.
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http://dx.doi.org/10.1055/s-2007-1003258 | DOI Listing |
Sci Rep
January 2025
Chair of Obstetrics Development, Faculty of Health Sciences, Medical University of Lublin, Lublin, Poland.
The aim of the study is to analyze the relationship between personality traits of women with hereditary predisposition to breast/ovarian cancer and their obstetric history and cancer-preventive behaviors. A total of 357 women, participants of 'The National Program for Families With Genetic/Familial High Risk for Cancer', were included in the study. The Neo Five-Factor Inventory (NEO-FFI) and a standardized original questionnaire designed for the purpose of the study were used.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
Pediatric Nephrology Services, Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.
Background: Limited research exists regarding the genetic profile, clinical characteristics, and outcomes of refractory rickets in children from India.
Methods: Patients with refractory rickets aged ≤ 18 years were enrolled. Data regarding clinical features, etiology, genotype-phenotype correlation, and estimated glomerular filtration rate (eGFR) were recorded.
J Clin Med
January 2025
Medical Oncology Department, Hospital Universitario Miguel Servet, 50012 Zaragoza, Spain.
: Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal malignancy with a five-year survival rate of approximately 13% for advanced stages. While the majority of PDAC cases are sporadic, a significant subset is attributable to hereditary and familial predispositions, accounting for approximately 25% of cases. This article synthesizes recent advancements in the understanding, detection, and management of hereditary pancreatic cancer (PC).
View Article and Find Full Text PDFGenes (Basel)
January 2025
Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.
Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Division of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.
Women carrying pathogenic/likely pathogenic (P/LP) variants in moderate- or high-penetrance genes have an increased risk of developing breast cancer. However, most P/LP variants associated with breast cancer risk show incomplete penetrance. Age, gender, family history, polygenic risk, lifestyle, reproductive, hormonal, and environmental factors can affect the expressivity and penetrance of the disease.
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