Results 191 to 200 of about 270,863 (296)

Amyloid β-related Angiitis Presenting with Subarachnoid Hemorrhage Diagnosed by Brain Biopsy: A Case Report. [PDF]

NMC Case Rep J
Ishida M, Shimoya N, Shibata H, Ohno T, Iwata T, Taishaku A, Yamada K, Inaguma S, Aihara N.   +8 more
europepmc   +1 more source

Feasibility and accuracy of 3D printed patient-specific skull contoured brain biopsy guides. [PDF]

Vet Surg, 2021
Shinn R, Park C, DeBose K, Hsu FC, Cecere T, Rossmeisl J.   +5 more
europepmc   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

When Brain Biopsy Solves the Dilemma of Diagnosing Atypical Cerebral Amyoild Angiopathy: A Case Report. [PDF]

Am J Case Rep, 2021
Alokley AA, Alshamrani FJ, Alabbas FM, Nazish S.   +3 more
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

No Brain Biopsy Required for Diagnosing Acute Hemorrhagic Encephalitis. [PDF]

Intern Med
Finsterer J.
europepmc   +1 more source

Disease Remission: A Scoping Review With Thematic Analysis of the Scientific Literature With Implications for Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Remission, a term used to describe a goal of treatment for some chronic diseases, has recently been proposed for chronic rhinosinusitis (CRS). However, it is unclear what remission means for CRS and why it should serve as a goal in the present‐day treatment of CRS.
Nikhil Parail, Lynn Warner, Stacey T. Gray, Claire Hopkins, Peter H. Hwang, Sarah K. Wise, Katie M. Phillips, Ahmad R. Sedaghat   +7 more
wiley   +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source

Brain biopsy and pathological diagnosis for drug-associated progressive multifocal leukoencephalopathy (PML) with inflammatory reactions. [PDF]

Pathol Int
Shishido-Hara Y.
europepmc   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source