Results 151 to 160 of about 124,297 (297)

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Ocular Manifestations Among Thalassemia Patients Presenting to Tertiary Care Hospital in Jammu Region

JK Science
Background: Thalassemia patients present with different types of ocular manifestations. These can be due to the disease process itself or due to iron chelation therapy. Aims: This study aims to find out the ocular manifestations in thalassemia patients
Sonika Syal, Rukhsana Kousar, Riya Gupta, Hans Raj Sharma, Manpreet Kaur   +4 more
doaj  

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy

Clinical Genetics, EarlyView.
A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk, Aleš Maver, Martina Jarc Vidmar, Nuša Trošt, Tanja Višnjar, Ana Fakin, Lea Kovač, Maja Šuštar Habjan, Lucija Malinar, Sanja Petrović Pajić, Urška Dragin Jerman, Rok Romih, Marko Hawlina, Borut Peterlin   +13 more
wiley   +1 more source

Primary cardiac T‐cell rich large B‐cell lymphoma causing aortic stenosis with metastasis in a Warmblood

Equine Veterinary Education, EarlyView.
Summary An 18‐year‐old Warmblood mare was presented to the Royal Veterinary College Equine Referral Hospital for investigation of progressive periocular and facial swelling, weight loss and tachycardia. Physical examination additionally identified bilateral pansystolic (grade 5/6 basilar left‐sided, 2/6 right‐sided), cardiac murmurs, submandibular ...
S. E. Talbot, F. Z. X. Lean, H. M. Martineau, B. Dunkel, J. Reed   +4 more
wiley   +1 more source

The technical and practical implementation of fundus photography in equids

Equine Veterinary Education, EarlyView.
Summary Background Fundus photography is an important diagnostic tool in human and veterinary medicine. Advances in research are increasing its accessibility in human medicine. However, there is a lack of studies on modern fundus photography in animals, particularly in horses. Objectives To assess the use of a portable fundus camera developed for human
I. Vierling, B. Wollanke, V. Franzen
wiley   +1 more source

Knowledge, attitude and practice of primary care ophthalmologists towards fundus examination during the perioperative period of cataract surgery in patients with diabetes mellitus: a mediation analysis. [PDF]

BMJ Open
Sun X, Liu J, Yang N, Yu M, Yuan G.
europepmc   +1 more source

Rethinking informal circularity through metanarratives: Tensions, insights and directions for management research

International Journal of Management Reviews, EarlyView.
Abstract This study explores the intersection of the informal and circular economies and its implications for business, management and organization (BMO) scholarship and practice. Informal circularity, practices of collecting, reusing, repairing, recycling and repurposing materials outside formal economic, legal and regulatory arrangements, constitutes
Tulin Dzhengiz, Ling Li, Vildan Tasli Karabulut, Maryline Kiptoo   +3 more
wiley   +1 more source

Recognition of ophthalmology consultation and fundus examination among individuals with diabetes in Japan: A cross-sectional study using claims-questionnaire linked data. [PDF]

Diabetes Obes Metab
Yamamoto K, Ihana-Sugiyama N, Sugiyama T, Yamaoka T, Wakui-Kimura A, Imai K, Kuroda N, Ohsugi M, Ueki K, Yamauchi T, Tamiya N.   +10 more
europepmc   +1 more source

Sodium–glucose cotransporter 2 inhibition and injection burden in mild diabetic macular edema: An exploratory post hoc analysis of the COMET trial

Journal of Diabetes Investigation, EarlyView.
Combining oral sodium‐glucose cotransporter 2 inhibitors with reduced intravitreal injections of anti‐vascular endothelial growth factor showed potential efficacy for mild diabetic macular edema. ABSTRACT Aims To investigate the potential of sodium–glucose cotransporter 2 inhibitors (SGLT2i) as a less invasive treatment option for mild diabetic macular
Yoko Takatsuna, Ryoichi Ishibashi, Masaya Koshizaka, Tomoaki Tatsumi, Takayuki Baba, Shuichi Yamamoto, Koutaro Yokote   +6 more
wiley   +1 more source

Preoperative dilated fundus examination in camp patients undergoing surgical intervention. [PDF]

Indian J Ophthalmol
Panigrahi PK, Yadav T, Sahoo D.
europepmc   +1 more source