Results 181 to 190 of about 52,779 (239)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican 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

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2128-2135, September 2026.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta   +9 more
wiley   +1 more source

‘It Is Your Eating Disorder Talking’: A Focus Group Study of Patients' Experience of Alliance Ruptures in Psychiatric Treatment for Eating Disorders

open access: yesCounselling and Psychotherapy Research, Volume 26, Issue 3, September 2026.
ABSTRACT Background Treatments for eating disorders (EDs) are often inadequate, and dropout rates are among the highest within psychiatry. The quality of the therapeutic alliance has proven associated with treatment outcome, but forming and maintaining a strong alliance during ED treatment often presents difficulties.
Signe Degn   +3 more
wiley   +1 more source

Pontine Tegmental Cap Dysplasia Presenting With Global Developmental Delay and Vestibulocochlear Nerve Aplasia: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT PTCD should be considered in children with developmental delay and sensorineural hearing loss. MRI is crucial for identifying the characteristic dorsal “tegmental cap” and associated hindbrain anomalies. Vestibulocochlear nerve aplasia may explain severe hearing impairment in PTCD.
Khawar Bilal   +6 more
wiley   +1 more source

Bridge-to-surgery in acute right-sided obstructing colon cancer: A survey of surgeons' perspectives on treatment strategies. [PDF]

open access: yesColorectal Dis
Lockhorst EW   +6 more
europepmc   +1 more source

Carbamazepine‐Induced Stevens‐Johnson Syndrome/Toxic Epidermal Necrolysis Overlap With Severe Ocular and Oral Involvement: A Pediatric Case Report From Uganda

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT We report a case of carbamazepine‐induced Stevens‐Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) overlap in an 11‐year‐old Ugandan boy who presented with fever, facial swelling, ocular redness with photophobia, painful oral ulceration, and widespread epidermal detachment involving more than 10% of the body surface area.
Abdisalam Ahmed Sandeyl   +5 more
wiley   +1 more source

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