Results 51 to 60 of about 1,881,662 (155)

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Kcnv2 E151X Mouse Captures Hallmarks of KCNV2‐Associated Retinal Dystrophy

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background KCNV2‐associated retinopathy is a rare inherited retinal dystrophy caused by variants in the KCNV2 gene, leading to disrupted photoreceptor behaviour and progressive deterioration of vision. Patients have characteristic electroretinography abnormalities, including reduced cone response, delayed and reduced rod response to low light ...
Nermina Xhaferri, Sumit Biswas, Benjamin Davies, Moritz Lindner   +3 more
wiley   +1 more source

Suppression of Retinal Neovascularisation by Tetrahedral Framework Nucleic Acids‐Resveratrol Via Dual Anti‐Angiogenesis and Anti‐Inflammation

Cell Proliferation, EarlyView.
Resveratrol‐loaded tetrahedral framework nucleic acids (tFNAs‐RSV) enable concurrent anti‐angiogenic and anti‐inflammatory therapy, enhancing ocular delivery and bioactivity. In hypoxia‐induced retinal neovascularisation, tFNAs‐RSV reduce neovascular lesions, vascular leakage and inflammatory infiltration by suppressing HIF‐1, p38 MAPK and NF‐κB p65 ...
Yili Jin, Tao Cai, Junyang Huang, Li Chen, Yi Lin, Jingying Liu, You Wang, Xiaoyan Ding   +7 more
wiley   +1 more source

Embroidery Transfer Pattern

, 1940
Envelope for a McCall Kaumagraph Transfer pattern to embroider floral designs on suggested items such as sheets, pillowcases, infant wear, bibs, and lingerie; includes illustrations and information about stamping and embroidering the ...
McCall Pattern Company
core   +1 more source

Risk of Retinopathy Associated with Long‐Term Use of Hydroxychloroquine in Patients with Rheumatic Diseases: A Systematic Review and Meta‐Analysis

Arthritis Care &Research, Volume 78, Issue 10, Page 1532-1543, October 2026.
Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among patients receiving long‐term HCQ with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain optical coherence tomography (SD‐OCT) for screening ...
Narsis Daftarian, Chloe Yue, Steve D. Levasseur, Hui Xie, J. Antonio Avina‐Zubieta   +4 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Steady-State PERG Adaptation Reveals Temporal Abnormalities of Retinal Ganglion Cells in Treated Ocular Hypertension and Glaucoma

Diagnostics
Background/Objectives: This study investigates adaptive changes in long-lasting pattern electroretinogram (PERG) responses in ocular hypertension (OHT) and open-angle glaucoma (OAG) patients, and in healthy subjects.
Tommaso Salgarello, Andrea Giudiceandrea, Grazia Maria Cozzupoli, Martina Cocuzza, Romolo Fedeli, Donato Errico, Antonello Fadda, Filippo Amore, Marco Sulfaro, Epifanio Giudiceandrea, Matteo Salgarello, Stanislao Rizzo, Benedetto Falsini   +12 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Mesenchymal Stem Cell‐Derived Extracellular Vesicles Ameliorate NaIO3‐Induced Dry AMD by Delivering miR‐486‐3p to Inhibit Lipocalin‐2‐Mediated Ferroptosis

MedComm, Volume 7, Issue 10, October 2026.
Our study reveals a novel mechanism by which MSC‐derived EVs alleviate NaIO3‐induced dry AMD‐like pathology. MSC‐EVs deliver miR‐486‐3p into retinal cells to directly inhibit the ferroptosis‐promoting target gene Lcn2. Concurrently, downregulated Lcn2 restores intracellular Gpx4 expression, thereby suppressing ferroptosis and rescuing retinal ...
Zheng Li, Tujing Zhao, Lin Ye, Runze Li, Huaping Tian, Ruilin Liao, Lulin Huang   +6 more
wiley   +1 more source

Spatial tuning studies of the pattern evoked electroretinogram [PDF]

The locus of origin of the pattern evoked electroretinogram, (PERG), has been the subject of considerable discussion. A novel approach was adopted in this study to further elaborate the nature of the PERG evoked by pattern onset/offset presentation.
Thompson, Dorothy A.
core   +6 more sources