Results 101 to 110 of about 186,193 (259)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Convexity subarachnoid hemorrhage: clinical features and etiology of an Argentinian cohort

Arquivos de Neuro-Psiquiatria
Nontraumatic convexity subarachnoid hemorrhage is an increasingly recognized subtype of subarachnoid bleeding. Objective: Our aim was to describe the etiology and clinical features of a cohort of patients with convexity subarachnoid hemorrhage. Methods:
Aníbal Chertcoff, Lucrecia Bandeo, Fátima Pantiu, Luciana León Cejas, Sol Pacha, Claudia Uribe Roca, Manuel Fernández Pardal, Ricardo Reisin, Pablo Bonardo   +8 more
doaj   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

A mouse model of mechanical stress injury to the basal ganglia using thermosensitive PNIPAM hydrogel for intracerebral hemorrhage research

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a novel mouse model of intracerebral hemorrhage (ICH) by stereotactically injecting thermosensitive PNIPAM hydrogel into the internal capsule to impose localized mechanical stress on the corticospinal tract, which provides a straightforward and reproducible tool for preclinical studies on focal mechanical stress–induced ...
Mingxi Li, Yujie Chen, Rongsu Huang, Min Xia, Chao Mi, Yuan Tian, Peiwen Guo, Taotao Jin, Shilei Hao, Hua Feng, Yujie Chen, Zhi Chen   +11 more
wiley   +1 more source

Age Is an Effect Modifier of Thrombectomy Benefit in a Socioeconomically Vulnerable Stroke Population

Annals of Neurology, EarlyView.
Objective Randomized trials from high‐income countries have shown that endovascular treatment (EVT) yields similar benefits in elderly and non‐elderly patients with large vessel occlusion stroke (LVOS). However, evidence from low/middle‐income countries remains scarce.
Fabricio O. Lima, Francisco José de A. Mont'Alverne, Letícia C. Rebello, Daniel G. Abud, Gisele S. Silva, Michel E. Frudit, Mário B. Wagner, Jamary Oliveira‐Filho, Diogo C. Haussen, David S. Liebeskind, Octávio M. Pontes‐Neto, Norberto A.F. Frota, Guilherme Dabus, Gabriel R. de Freitas, Adson F. de Lucena, Jeffrey L. Saver, Raul G. Nogueira, Sheila C.O. Martins, for the RESILIENT Trial Investigators   +18 more
wiley   +1 more source

Blood Biomarkers of Alzheimer's Disease and Patterns of Structural Brain Changes in the Community

Annals of Neurology, EarlyView.
Objective We aimed to investigate the associations between Alzheimer's disease (AD)‐related blood biomarkers and changes in brain volumes and cerebrovascular burden in community‐dwelling older adults. Methods We included 361 dementia‐free participants with a Mini‐Mental State Examination (MMSE) score ≥ 27 and without prior cerebrovascular events from a
Martina Valletta, Davide Liborio Vetrano, Erika J. Laukka, Grégoria Kalpouzos, Javier Oltra, Debora Rizzuto, Marco Canevelli, Claudia Fredolini, Chengxuan Qiu, Bengt Winblad, Laura Fratiglioni, Giulia Grande   +11 more
wiley   +1 more source

Preliminary clinical application of susceptibility weighted imaging in hemorrhagic cerebral infarction

Chinese Journal of Contemporary Neurology and Neurosurgery, 2011
Objective To investigate the clinical diagnostic value of susceptibility weighted imaging (SWI) in hemorrhagic cerebral infarction. Methods Twenty patients with subacute hemorrhagic cerebral infarction were examined by 3.0T magnetic resonance imaging ...
Zhuangzhi SU, Jie LU, Kuncheng LI, Yanxiang CAO, Cheng ZHAO   +4 more
doaj  

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source