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Hereditary multiple exostoses (HME) is a commonly inherited musculoskeletal condition and is associated with a diminished stature. We demonstrated that adults with HME were significantly shorter when compared with a control group (P<0.001); preadolescents, however, were significantly taller than predicted (P=0.01). This was reflected by their height centile; 58% of the adults were under the 25th centile, whereas 53% of the preadolescence group were above the 75th centile. Stature was more severely affected in patients with an EXT1 mutation (P=0.008). This study illustrates a novel age-related growth pattern associated with HME, which is also affected by genotype.
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http://dx.doi.org/10.1097/BPB.0b013e32834dd21f | DOI Listing |
Neurol Sci
September 2025
Department of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Background: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal vascular formations across multiple organ systems, including the brain. While arteriovenous malformations (AVMs) are well recognized in HHT, non-AVM cerebrovascular malformations remain underreported and poorly understood manifestations of the disease.
Methods: A systematic review was conducted using multiple databases, applying a two-step screening process to exclude studies with insufficient, irrelevant, or incomplete data.
J Int Med Res
September 2025
Department of Otolaryngology Head and Neck surgery, Hangzhou First People's Hospital, Westlake University, China.
Characterized by abnormalities of the blood vessel wall, hereditary hemorrhagic telangiectasia is an autosomal dominant disorder. Recurrent or spontaneous epistaxis is the most prevalent symptom of hereditary hemorrhagic telangiectasia, whose severity varies greatly, ranging from moderate self-limiting epistaxis to severe, life-threatening epistaxis, which often requires multiple treatments and is therefore a challenge for otorhinolaryngologists. This case report retrospectively analyzed the clinical data and family history of a patient who presented to the Department of Otorhinolaryngology, Hangzhou First People's Hospital, with recurrent epistaxis for 60 years.
View Article and Find Full Text PDFBiomed Eng Lett
September 2025
Department of Cardiovascular Ultrasound, The First Hospital of China Medical University, Shenyang, China.
Abstract: Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease and is the leading cause of sudden cardiac death in adolescents. Septal hypertrophy (SH) and apical hypertrophy (AH) are two common types. The former is characterized by abnormal septal myocardial thickening and the latter by left ventricular apical hypertrophy, both of which significantly increase the risk of heart failure, arrhythmias, and other serious complications.
View Article and Find Full Text PDFKorean J Clin Oncol
August 2025
Department of Surgery, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.
Purpose: Multiple primary tumors arising in the same individual pose challenges for precision oncology, particularly in the context of hereditary cancer syndromes such as Lynch syndrome. While these tumors may originate from a shared germline predisposition, it remains unclear whether they also share somatic alterations that could be therapeutically exploited. This study aimed to characterize the extent of somatic genomic overlap between synchronous or metachronous gastric and colorectal cancers within young Korean patients.
View Article and Find Full Text PDFThromb Res
September 2025
Department of Hematology, Radboud university medical centre, Nijmegen, the Netherlands; Hemophilia Treatment Centre Nijmegen-Eindhoven-Maastricht, Nijmegen, the Netherlands. Electronic address:
Introduction: Very rare bleeding disorders (VRBDs) are hereditary disorders which cause increased risk of bleeding. In general, VRBDs consists of rare platelet function disorders, very rare coagulation factor deficiencies (other than Factor (F) VIII or FIX) and disorders of the fibrinolytic pathway. The rarity of these disorders along with the scarcity of specialized hemostasis laboratories capable to perform the necessary diagnostic tests, results in significant challenges in diagnosing and monitoring patients with VRBD.
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