Results 81 to 90 of about 17,191 (179)
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1832-1841, August 2026.ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
Abdominal Pain in a Patient With Nephrotic Syndrome
Turkish Journal of Nephrology, 2019 OBJECTIVES: We aimed to report a case with a history of therapy-resistant focal and segmental glomerulosclerosis presenting with the main complaint of severe umbilical pain.
Kübra KAYNAR +5 more
doaj
Clinical Case Reports, Volume 14, Issue 8, August 2026.ABSTRACT The paraspinal hook‐needle intervention is a minimally invasive needle‐based procedure performed under local anesthesia using a specialized hook‐shaped needle at clinically selected lumbar segments. We report the case of a 70‐year‐old woman who presented with intermittent low back pain for more than 10 years, recently aggravated and ...
Mengying Xiao +4 more
wiley +1 more source
Concurrent Mesh Repair of a Morgagni and Umbilical Hernia during a Laparoscopic Sleeve Gastrectomy in a Morbidly Obese Individual [PDF]
Journal of Krishna Institute of Medical Sciences University, 2016 Morgagni Hernia is a rare form of diaphragmatic hernia. It is mainly asymptomatic and often identified incidentally during surgery. Tension-free synthetic mesh repair is the preferred treatment modality.
N.R Kosai +4 more
doaj
Alpha‐Mannosidosis in a 3.5‐Year‐Old Girl: A Case Report
Clinical Case Reports, Volume 14, Issue 8, August 2026.ABSTRACT Alpha‐mannosidosis is a rare lysosomal storage disease caused by a deficiency of the enzyme alpha‐mannosidase. It manifests as a continuous spectrum of signs and symptoms characterized by dysmorphic features, skeletal abnormalities, delayed psychomotor and speech development, impaired hearing, and psychiatric involvement. When suspected, alpha‐
Samuel Bonilla Fornes +4 more
wiley +1 more source
Unilateral ductus deferens aplasia with terminal cystic dilation in a Bernese mountain dog
Veterinary Record Case Reports, Volume 14, Issue 3, August 2026.Abstract An incidental caudal abdominal mass was discovered in a 5‐year‐old, male, entire Bernese mountain dog. Investigations showed a terminal cystic dilation of the left ductus deferens. Castration, along with surgical resection of the mass, was performed, and histopathology of the mass and ductus deferens was consistent with segmental aplasia of ...
Daisy Johnson +3 more
wiley +1 more source
World Journal of Surgery, Volume 50, Issue 8, Page 2360-2371, August 2026.Pediatric operative volumes in Malawi have increased over the past decade due to an increase in the pediatric surgical workforce and improved infrastructure. Despite growth in surgical capacity, limited data exist regarding post‐operative outcomes for common surgical diseases in low‐resource settings. Post‐operative follow‐up via phone call is feasible
Madhushree Zope +11 more
wiley +1 more source
Revista Colombiana de CirugíaIntroducción. Dentro de las hernias ventrales, las umbilicales tienen una incidencia del 6-14 %, mientras que las epigástricas del 1,6-3,6 %.
Óscar Gabriel Villamizar-Blanco +6 more
doaj +1 more source
Equine Veterinary Education, Volume 38, Issue 8, Page e509-e515, August 2026.Summary Gastric outflow obstruction (GOO) occasionally requires surgical intervention in foals when medical management fails. Current literature lacks consensus on several surgical decisions, with most comprehensive reports dating back over a decade. Critical aspects—including jejunal loop orientation and necessity of jejunojejunostomy—remain debated ...
P. Fernández Hernández +8 more
wiley +1 more source