Results 131 to 140 of about 11,881 (273)

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli, Germana Viscogliosi, Annabella Salerni, Emanuele Crincoli, Roberta Mattei, Tommaso Verdolotti, Serafina Antonella Loprete, Valentina Trevisan, Giovanni Antonio Marrocco, Alessia Cherubino, Lucrezia Perri, Roberta Onesimo, Giuseppe Zampino, Chiara Leoni   +13 more
wiley   +1 more source

GPC: Generative and General Pathology Image Classifier [PDF]

arXiv
Deep learning has been increasingly incorporated into various computational pathology applications to improve its efficiency, accuracy, and robustness. Although successful, most previous approaches for image classification have crucial drawbacks. There exist numerous tasks in pathology, but one needs to build a model per task, i.e., a task-specific ...
arxiv  

Uraemic syndrome following acute renal failure in horses

Equine Veterinary Education, Volume 37, Issue 5, Page 235-240, May 2025.
G. van Galen
wiley   +1 more source

Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado–Joseph Disease

Annals of Neurology, Volume 98, Issue 1, Page 107-119, July 2025.
Objective An abundance of select transcripts and proteins has been found to be dysregulated in blood samples of Machado–Joseph disease (MJD) carriers. Here, we aimed to: (1) identify blood transcriptional changes as potential biomarkers of MJD; (2) correlate levels of differentially expressed blood transcripts with MJD carriers features; and (3 ...
Ana F. Ferreira, Mafalda Raposo, Emily D. Shaw, Louisa Liu, João Vasconcelos, Teresa Kay, Conceição Bettencourt, Maria Luiza Saraiva‐Pereira, Laura Bannach Jardim, Maria do Carmo Costa, Manuela Lima   +10 more
wiley   +1 more source

Phenytoin-induced cerebellar atrophy: A case for reversibility of neurological decline

Radiology Case Reports
This case serves as a reminder of the infrequent, yet consequential occurrence of cerebellar degeneration linked to phenytoin usage. Whilst emphasizes the importance of monitoring patients on long-term phenytoin therapy, and it further suggests ...
Edwin Mogere, Davis Cheruiyot, Manakhe Nassiuma   +2 more
doaj  

Path of pathology [PDF]

arXiv
We present a few results about (non)pathology of submeasures and ideals.
arxiv  

The Clinical Differentiation of Cerebellar Infarction from Common Vertigo Syndromes [PDF]

, 2009
This article summarizes the emergency department approach to diagnosing cerebellar infarction in the patient presenting with vertigo. Vertigo is defined and identification of a vertigo syndrome is discussed.
Nelson, James A., Viirre, Erik
core   +2 more sources

Audiovestibular Findings in Gaucher Disease Types I and III: Evidence of Vestibular Involvement in GD1

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Gaucher disease (GD), the most prevalent lysosomal storage disorder, is characterized by varying levels of systemic and neurological involvement. This study aims to investigate audiovestibular system involvement in patients with Gaucher disease type I (GD1) and type III (GD3) using audiometric and vestibular evaluations.
Elvan Onan, Fatma Derya Bulut, Deniz Kor, Muhammed Dagkiran, Caglar Eker, Ozgur Surmelioglu, Neslihan Önenli Mungan   +6 more
wiley   +1 more source

USegMix: Unsupervised Segment Mix for Efficient Data Augmentation in Pathology Images [PDF]

arXiv
In computational pathology, researchers often face challenges due to the scarcity of labeled pathology datasets. Data augmentation emerges as a crucial technique to mitigate this limitation. In this study, we introduce an efficient data augmentation method for pathology images, called USegMix.
arxiv  

Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real‐World Data Approach

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Neurodegeneration in metachromatic leukodystrophy (MLD) may be preceded by systemic complications. Characterization of these features is critical to define barriers to early diagnosis and treatment eligibility for gene therapy. We utilized medical billing (claims) datasets and a natural history study to capture pre‐diagnosis MLD‐related events.
Ali Mohajer, Anjana Sevagamoorthy, Karen Bean, Sylvia Mutua, Francis Pang, Laura Ann Adang   +5 more
wiley   +1 more source