Results 11 to 20 of about 4,848 (107)
Clinical Case Reports, Volume 14, Issue 3, March 2026.Symmetrical lipomatosis of the tongue is a rare manifestation of Madelung´s disease, characterized by diffuse, non‐encapsulated adipose tissue growth. We present the first reported Latin American case of a 58 year old patient treated with symmetrical bilateral glossectomy which preserved tongue functionality and significantly improved quality of life ...
Daniela Salamanca‐Ramirez +2 more
wiley +1 more source
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source
Journal of Small Animal Practice, Volume 67, Issue 2, Page 105-111, February 2026.Objectives This study aimed to examine the association between pterygoid bone medialisation and treatment outcomes after upper airway surgery in three brachycephalic breeds. Materials and Methods Dogs that underwent CT of the head followed by routine surgery for brachycephalic obstructive airway syndrome were recruited in this study.
S. L. Yuen +3 more
wiley +1 more source
AP Model: A Simple Tool to Predict Poor Long‐Term PAP Adherence in Obstructive Sleep Apnea
OTO Open, Volume 10, Issue 1, January-March 2026.Abstract Objective To identify clinical and polysomnographic factors predicting poor long‐term positive airway pressure (PAP) compliance in patients with obstructive sleep apnea (OSA) in a Southeast Asian population and to develop a simple risk model applicable in routine practice. Study Design Retrospective cohort study.
Krongthong Tawaranurak +2 more
wiley +1 more source
Breast Findings in Females With Beckwith–Wiedemann Syndrome
Pediatric Blood &Cancer, Volume 73, Issue 1, January 2026.ABSTRACT Beckwith–Wiedemann syndrome (BWS) is an overgrowth condition caused by epigenetic defects on chromosome 11p15. Children with BWS have a predisposition to embryonal tumors such as Wilms tumor and hepatoblastoma. However, few reports of breast tumors in females with BWS have been published and the risk of malignancy and need for screening ...
Liron D. Grossmann +5 more
wiley +1 more source
CLCN4 ‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities
American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett +4 more
wiley +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
Drooling as a Red Flag: Insights From a Case Series in Severe Dermatomyositis With Literature Review
Clinical Case Reports, Volume 13, Issue 12, December 2025.ABSTRACT Dermatomyositis (DM) is a rare idiopathic inflammatory disease characterized by progressive proximal muscle weakness and distinctive dermatologic manifestations. Although dysphagia is a recognized complication of oropharyngeal muscle involvement, drooling (sialorrhea) is infrequently described and may be a marker of severe disease.
Alireza Mirzamohamadi +9 more
wiley +1 more source
Respirology Case Reports, Volume 13, Issue 12, December 2025.We report the first case of alveolar hypoventilation due to diaphragmatic dysfunction in ATTRwt. Chest radiographs show little change in the height of the diaphragm during expiration (A) and inspiration (B). Ultrasound evaluation shows minimal diaphragmatic thickening during inspiration. ABSTRACT We report a case of wild‐type transthyretin amyloidosis (
Mayumi Aoyama +8 more
wiley +1 more source
Journal of Gastroenterology and Hepatology, Volume 40, Issue 12, Page 2842-2856, December 2025.ABSTRACT Background Amyloidosis is a rare, multisystem disorder characterized by extracellular deposition of misfolded protein fibrils. Gastrointestinal (GI) amyloidosis is uncommon but under‐recognized due to nonspecific symptoms, but early diagnosis is critical to improve quality of life and prognosis.
Myo Jin Tang +3 more
wiley +1 more source