The occurrence of febrile seizures (FSs) in large autosomal dominant FS kindreds makes possible accurate delineation of the pure clinical phenotype of hereditary FS among secondary FS cases, and the identification of gene loci causing susceptibility to FS. Recently FS gene loci on chromosomes 8 and 19 were identified. We studied the phenotype of FS in four large families in which FS is an autosomal dominant trait. Among 30 affected secondary FS cases, mean age of onset was 16.3 months (range 4 to 36 months), sex ratio was equal, and 43% were complex (13 of 30). Among these 30 secondary FS cases, the mean number of FSs was 2.1, half had only a single FS, and none had afebrile seizures. Penetrance was 0.67, approximately the same as in our previous larger group of 40 multicase FS families (0.64). The occurrence of DPT encephalopathy in a sib of a patient with FS raises the possibility that these two etiologies are related. Linkage studies showed that one of the four families (Family 1) was linked to chromosome 19p markers, none of the families was linked to chromosome 8q markers, and the largest FS family (Kindred 6) was unlinked to either 19p or 8q markers, supporting the hypothesis of genetic heterogeneity for FS.
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http://dx.doi.org/10.1002/(sici)1096-8628(19981012)79:5<354::aid-ajmg5>3.0.co;2-j | DOI Listing |
J Endocrinol Invest
January 2025
Division of Internal Medicine 4 and Hypertension Unit, Department of Medical Sciences, University of Torino, Torino, Italy.
Purpose: The delayed or missed diagnosis of secondary hypertension contributes to the poor blood pressure control worldwide. This study aimed to assess the diagnostic approach to primary aldosteronism (PA) and pheochromocytoma (PHEO) among Italian centers associated to European and Italian Societies of Hypertension.
Methods: Between July and December 2023, a 10-items questionnaire was administered to experts from 82 centers of 14 Italian regions and to cardiologists from the ARCA (Associazioni Regionali Cardiologi Ambulatoriali) Piemonte.
Langenbecks Arch Surg
January 2025
Department of Trauma Surgery, University Hospital Zurich, Rämistrasse 100, CH - 8091, Zurich, Switzerland.
Introduction: Blunt traumatic aortic injury (TAI) is a critical condition and a leading cause of mortality in trauma patients, often resulting from high-speed accidents. Thoracic endovascular aortic repair (TEVAR) has developed into the preferred therapeutic approach due to its minimally invasive nature and promising outcomes. This study evaluates the safety and efficacy of TEVAR for managing TAI over a 10-year period at a Level-1 trauma center.
View Article and Find Full Text PDFArch Dermatol Res
January 2025
Premier Dermatology, Ashburn, VA, USA.
Pilomatrix carcinoma (PC) is a rare malignant adnexal tumor originating from follicular matrix cells primarily impacting Caucasian males. This review provides a comprehensive analysis of scientific literature on PC through an exploration of 206 cases reported between 1980 and 2024. We discuss the epidemiology, clinical presentation, histopathology, and diagnostic challenges of PC, and explore various treatment methods for this rare malignancy as well as their associated outcomes.
View Article and Find Full Text PDFRev Gastroenterol Peru
January 2025
Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia; Servicio de Cirugía General, Clínica Las Vegas, Medellín, Colombia.
Endoscopic procedures, currently, are characterized by being minimally invasive diagnostic and therapeutic methods, which allow the management of a wide number of pathologies and in the hands of a good operator, present few complications. Both traumatic and spontaneous splenic rupture is a rare entity, mainly associated with abdominal trauma or splenomegaly due to hematological diseases, respectively. Splenic rupture secondary to endoscopic studies is a complication with a mortality close to 5%, of which only 100 cases have been reported to date, none of them in Colombia.
View Article and Find Full Text PDFJ Paediatr Child Health
January 2025
WHO Collaborating Centre for Reference and Research on Influenza, VIDRL, Doherty Institute, Melbourne, Victoria, Australia.
Aims: Primary aim was to review severe acute respiratory infections (SARI) hospitalisations caused by respiratory syncytial virus (RSV) in children aged < 2 years in paediatric hospitals in Australia. Secondary aims included RSV subtyping, assessing RSV seasonality and contributing to the World Health Organisation's RSV surveillance programme.
Methods: We prospectively reviewed the medical records of children (< 2 years of age) with a confirmed SARI who were admitted to one of four major Australian paediatric hospitals and had a respiratory sample analysed by Polymerase Chain Reaction (PCR).
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