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A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression.
Am J Med Genet A
January 2025
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Primary Hypertrophic Osteoarthropathy (PHOAR1) is characterized by autosomal recessive loss of function variants in 15-hydroxyprostaglandin dehydrogenase (HPGD) leading to digital clubbing, periostosis, pachydermia, and severe hyperhidrosis. HPGD catalyzes the first step of prostaglandin E2 (PGE2) degradation. Selective COX-2 inhibitors have proved beneficial in adults, though it is unknown if early initiation of COX-2 inhibitors can alter the natural history of PHOAR1.
View Article and Find Full Text PDFClinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia.
Data Brief
February 2025
Department of Child Health, Faculty of Medicine, Dr. Cipto Mangunkusumo Hospital, University of Indonesia, Jakarta 10430, Indonesia.
Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. Early diagnosis of GSD IV is challenging due to non-specific symptoms, such as liver and spleen enlargement, which can overlap with other hematologic and hepatobiliary disorders.
View Article and Find Full Text PDFA Rare Case of Bartter Syndrome Type 3 Presenting With New-Onset Diabetes Mellitus.
Cureus
December 2024
Department of Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Bartter syndrome is a rare genetic disorder that often presents in the early phase of life and is caused by mutations in multiple genes encoding the transporters and channels, which are responsible for the reabsorption of various ions in the nephrons. Clinically, it presents with vomiting, failure to thrive, and dehydration. Rare instances of acquired Bartter syndrome have been linked to sarcoidosis, tuberculosis, and autoimmune diseases.
View Article and Find Full Text PDFHistopathology of spontaneous lesions in FVB/N mice.
J Toxicol Pathol
January 2025
Safety and Bioscience Research Department, Translational Research Division, Chugai Pharmaceutical Co., Ltd. 216 Totsuka-cho, Totsuka-ku, Yokohama, Kanagawa 244-8602, Japan.
The FVB/N mouse strain is widely used in transgenic studies and as a model for autoimmune diseases. Although spontaneous lesions have been reported in aged FVB/N mice, information regarding younger FVB/N mice is lacking. This study aimed to investigate the spontaneous lesions in young FVB/N mice.
View Article and Find Full Text PDFFamily planning and preimplantation testing: family experiences in congenital adrenal hyperplasia.
Front Endocrinol (Lausanne)
January 2025
Department of Endocrinology, Sydney Children's Hospital, Randwick, NSW, Australia.
Introduction: Pre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families' lived experiences with CAH and the couples' subsequent fertility journey.
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