Results 91 to 100 of about 41,399 (306)

Functional Convergence Spasm and Dysconjugate Eye Movements: A Vignette

Movement Disorders Clinical Practice, EarlyView.
Iryna Klopotovska, Koemi‐Jade Garrick, Diego Kaski   +2 more
wiley   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, Volume 46, Issue 1, Page 46-55, January 2026.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease

Clinical Genetics, Volume 109, Issue 1, Page 167-175, January 2026.
We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Eleni Mavraki, Miriam Elbracht, Nergis Güzel, Thomas Herberhold, Ingo Kurth, Andrea Maier, Larissa Mattern, Carol Saunders, Helen McCullagh, Katrin Õunap, Saskia B. Wortmann, Andre Reis, Lei Zhang, Claes M. Gustafsson, Robert McFarland, Robert W. Taylor   +20 more
wiley   +1 more source

Piezo2 in Mechanosensory Biology: From Physiological Homeostasis to Disease‐Promoting Mechanisms

Cell Proliferation, Volume 59, Issue 1, January 2026.
Piezo2 channels are essential mechanotransducers regulating touch, proprioception and visceral mechanosensation across physiological systems, emerging as therapeutic targets for pathological mechanical hypersensitivity and neurogenic disorders. ABSTRACT Piezo2, a mechanically activated ion channel, serves as the key molecular transducer for touch ...
Zhebin Cheng, Zuping Wu, Mengjie Wu, Liang Xie, Qianming Chen   +4 more
wiley   +1 more source

Uveitis following anti-snake venom therapy

Journal of Venomous Animals and Toxins including Tropical Diseases, 2007
Snakebite is a common medical emergency in the tropics, causing multisystemic involvement. Ophthalmic manifestations after snakebite have included ptosis and ophthalmoplegia.
S. G. Nayak, R. Satish, S. Nityanandam, R. K. Thomas   +3 more
doaj   +1 more source

A CPH-Like Picture in Two Patients with an Orbitocavernous Sinus Syndrome [PDF]

, 1997
Two patients with retroorbital pain syndromes with or without paresis of cranial nerves developed weeks after ipsilateral headache resembling chronic paroxysmal hemicrania (CPH) but without autonomic features.
A Straube, Classification and diagnostic criteria for headache disorders, R v Maydell, S Foerderreuther, Sjaastad O., Yousem DM   +5 more
core   +1 more source

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

Brain : a journal of neurology, 2008
Mutations in nuclear genes involved in mitochondrial DNA (mtDNA) maintenance cause a wide range of clinical phenotypes associated with the secondary accumulation of multiple mtDNA deletions in affected tissues.
G. Hudson, P. Amati‐Bonneau, E. Blakely, J. Stewart, Langping He, A. Schaefer, P. Griffiths, K. Ahlqvist, A. Suomalainen, P. Reynier, R. Mcfarland, D. Turnbull, P. Chinnery, Robert W. Taylor   +13 more
semanticscholar   +1 more source

A Case Report of Growth Hormone–Secreting Pituitary Adenoma Complicated by Apoplexy With Atypical Clinical Presentation

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Pituitary macroadenomas are prevalent benign tumors that can present with insidious symptoms, leading to delayed diagnoses. We report the case of a 29‐year‐old South Asian male who presented with acute neurological symptoms including severe headache, confusion, and vomiting, initially diagnosed as meningitis with syndrome of inappropriate antidiuretic ...
Bassem Al Hariri, Muhammad Faizan, Reynaldo Balintona Jr, Mohammed Omer Elbadawi Elhassan, Suhib Salameh, Imran Hussain Mohammad, Abdulwahab Muhammad Qasem, Simon Ching-Shun Kao   +7 more
wiley   +1 more source

Giant cell myocarditis masquerading as orbital myositis with a rapid, fulminant course necessitating mechanical support and heart transplantation. [PDF]

, 2017
Giant cell myocarditis (GCM), a rapidly progressive inflammation of the myocardium, is associated with fulminant heart failure, refractory ventricular arrhythmias, and conduction system abnormalities.
Aksoy, Olcay, Ardehali, Reza, Garg, Vinisha, Huynh, Tracy, Shah, Janki, Tan, Weiyi   +5 more
core   +1 more source

Accelerated Recovery: The Role of Oral Steroid in the Management of Herpes Zoster Ophthalmicus-Related Ophthalmoplegia [PDF]

, 2023
Joobin Khadamy, Pardis Khademi, Sadjad Baharypour   +2 more
openalex   +1 more source