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http://dx.doi.org/10.1016/j.ejmg.2022.104625 | DOI Listing |
Cureus
July 2025
2nd Pediatric Surgery Department, Panagiotis & Aglaia Kyriakou Childrens' Hospital, Athens, GRC.
Schaaf-Yang syndrome (SYS) is a rare genetic disorder marked by hypotonia, developmental delay, and feeding difficulties, including gastroesophageal reflux disease (GERD). We report the case of a 3-year-old boy with SYS who developed severe GERD and weight loss unresponsive to medical therapy. He underwent laparoscopic Toupet fundoplication with gastrostomy placement, resulting in complete symptom resolution and significant weight gain at one-year follow-up.
View Article and Find Full Text PDFEur J Pediatr
July 2025
Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
Unlabelled: Wiedemann-Steiner syndrome (WSS) is a rare autosomal dominant neurogenetic disorder caused by monallelic variants in KMT2A gene, characterized by neuromotor developmental delay, intellectual disability, microcephaly, seizures, behavioral disorders, dysmorphic facial features, hirsutism, and systemic anomalies. The KMT2A gene encodes a histone lysine methyltransferase crucial for the regulation of gene expression during early developmental stages. In this study, the clinical and molecular findings of 15 Turkish patients with WSS confirmed by whole exome sequencing are reported.
View Article and Find Full Text PDFJ Clin Med
June 2025
Departament de Nutrició, Ciències de l'Alimentació i Gastronomia, Campus de l'Alimentació de Torribera, Universitat de Barcelona (UB), 08921 Santa Coloma de Gramenet, Spain.
: Diamine oxidase (DAO) deficiency can lead to excessive histamine absorption at the intestinal level, triggering symptoms that affect the gastrointestinal, neurological, dermatological, respiratory, circulatory, and musculoskeletal systems. This condition, known as histamine intolerance, is more prevalent in women. While serum DAO levels have been observed to increase during pregnancy in healthy women, there is a lack of in-depth studies evaluating the relationship between pregnancy, DAO activity, and histamine intolerance symptoms.
View Article and Find Full Text PDFIEEE Int Conf Rehabil Robot
May 2025
Movement coordination disorders can originate from congenital abnormalities, traumatic injuries, or severe infections. These conditions can manifest in various ways, such as hypertonia, hypotonia, and involuntary movements, significantly impairing an individual's ability to perform daily tasks. This research focuses on the development of a soft exoskeleton designed to enhance the quality of life for individuals with cerebral palsy, particularly those affected by athetosis - a condition marked by involuntary, fluctuating muscle tone and associated balance challenges.
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