Results 41 to 50 of about 11,402 (181)

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel de novo NSD2 variant (c.2137G>C, p.Gly713Arg) was identified in a Chinese patient presenting with a syndromic developmental disorder. RNA analysis from patient‐derived material revealed that this missense variant induces aberrant splicing of NSD2 transcripts, resulting in a frameshift and likely a loss‐of‐function protein product.
Shixuan Xu   +7 more
wiley   +1 more source

Crouzon Syndrome-A Case Report

open access: yesJournal of Indian Academy of Oral Medicine and Radiology
Crouzon syndrome is a hereditary condition with an autosomal dominant pattern, characterized by the premature synostosis of coronal and sagittal sutures.
Malarmathi Eswaramoorthy   +1 more
doaj   +1 more source

When patients present with bulging eyes: A case series of proptosis [PDF]

open access: yesMalaysian Family Physician
Proptosis, commonly referred to as ‘bulging eyes’, is characterised by abnormal protrusion of the eyeball. This condition can arise from a variety of underlying causes, including thyroid eye disease, orbital tumours, inflammatory disorders and vascular ...
Nur Azuriah Abidin   +3 more
doaj   +1 more source

Infectious hematopoietic necrosis virus (IHNV) in fish and its consequences for fish farming: A comprehensive review

open access: yesJournal of the World Aquaculture Society, Volume 57, Issue 3, June 2026.
Abstract Viral diseases are a major concern in finfish aquaculture, leading to severe health problems. Infectious hematopoietic necrosis (IHN) is a highly transmissible systemic viral disease that primarily affects salmonids, causing significant mortality and economic losses to the salmonid farming industry.
Zahra Tulaby Dezfuly   +9 more
wiley   +1 more source

Exophthalmos Myxedema Acropachy Syndrome: A Case Report.

open access: yesIranian Journal of Public Health, 2014
Exophthalmos, myxedema, and acropachy are collectively named Exophthalmos myxedema acropachy (EMA) syn-drome, which is a rare syndrome associated with hypertcardiotrophia. Among patients with hyperthyreosis, EMA has an incidence less than 1%.
Qian Zhao   +3 more
doaj  

Locally advanced sinonasal squamous cell carcinoma presenting as oral pain in a dog

open access: yesVeterinary Record Case Reports, Volume 14, Issue 2, May 2026.
Abstract An 11‐year‐old, female, spayed, mixed breed dog was presented with a 1‐month history of oral pain. No major physical abnormalities were reported. A comprehensive oral examination was recommended. At intubation, temporomandibular joint crepitus and decreased range of motion were observed.
Jocosa Yasenchack   +4 more
wiley   +1 more source

MRI findings in a dog with calvarial squamous cell carcinoma

open access: yes
Journal of Small Animal Practice, EarlyView.
P. Sebestyén   +4 more
wiley   +1 more source

Clinical and computed tomographic characteristics of conjunctival large cell lymphoma in a cat

open access: yesVeterinary Record Case Reports, Volume 14, Issue 2, May 2026.
Abstract This case report describes a 12‐year‐old, female, neutered domestic shorthair cat presenting with an acute, diffuse, non‐resolving mass‐like lesion affecting the right conjunctiva. Despite an initial conscious snip biopsy result negative for malignancy and contrast‐enhanced computed tomography findings suggestive of sino‐orbital aspergillosis,
Yuet Yee Pang   +2 more
wiley   +1 more source

Orbital Involvement in Kimura’s Disease Presenting as Diffuse Bilateral Extraocular Muscle Enlargement: A Case Report

open access: yesJournal of the Korean Society of Radiology
Kimura’s disease (KD) is a rare, chronic inflammatory disorder characterized by angiolymphoid hyperplasia, peripheral eosinophilia, and elevated serum immunoglobulin E levels.
Kyeong Jin Lee   +4 more
doaj   +1 more source

UNILATERAL PROPTOSIS - A DIAGNOSTIC DILEMMA

open access: yesPakistan Armed Forces Medical Journal, 2021
Objective: To study epidemiology, presentation and management of cases with unilateral proptosis presenting at a tertiary care hospital. Study Design: Case series.
Ubaid Ullah Yasin   +5 more
doaj  

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