Results 41 to 50 of about 10,133 (174)
Clinical Genetics, EarlyView.Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen +9 more
wiley +1 more source
Endocrinology, Diabetes & Metabolism Case Reports, 2021 A 38-year-old female was initially seen in the intensive care unit after severe postpartum hemorrhage. She was initially diagnosed to have Sheehan’s syndrome and after discharge, she was diagnosed to have a vesicovaginal fistula which initially caused a ...
Butheinah A Al-Sharafi +2 more
doaj +1 more source
Central Diabetes Insipidus with Behcet's Disease.
Internal Medicine, 1999 We encountered a case of Behçet's disease complicated with central diabetes insipidus. A hypothalamopituitary dysfunction is rare in Behçet's disease; only three cases of this association have been reported in the literature. Magnetic resonance imaging of the brain showed a dilatation of the left Sylvian vein and thickening of the pituitary stalk ...
JIN-NO, Miwa +5 more
openaire +3 more sources
Inborn errors of immunity in children with neuroinflammation
Developmental Medicine &Child Neurology, EarlyView.Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu +5 more
wiley +1 more source
Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development
Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah +8 more
wiley +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Bipolar Disorders, Volume 28, Issue 5, August 2026.ABSTRACT Objectives Lithium is recommended as the first‐line maintenance treatment for older adults with bipolar disorder (OABD). However, age‐related reduction in renal clearance, heightened sensitivity to adverse effects, and drug interactions increase the risk of toxicity and necessitate lower therapeutic serum levels in this population.
Paula V. Nunes +15 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 2, Page 203-209, August 2026.We identified a novel pathogenic AVP variant in two Danish families with autosomal dominant inheritance of symptoms of AVP deficiency. In addition, we compiled a catalogue of additionally 109 AVP variants that cause AVP deficiency and demonstrated the advantage of combining expert‐assisted curation, literature search, and online repositories to ensure ...
Jennifa Joseph +5 more
wiley +1 more source
Clinical Insights Into Hypercalcemia of Malignancy in Childhood
Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley +1 more source
Case Reports in Veterinary Medicine, 2019 An 11-year-old female spayed Maltese presented comatose, half an hour after vehicular trauma, and was treated for traumatic brain injury and pulmonary contusions.
Catriona Croton +3 more
doaj +1 more source