Results 131 to 140 of about 1,107,549 (295)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

M-band wavelet-based multi-view clustering of cells.

open access: yesPLoS Computational Biology
Wavelet analysis has been recognized as a widely used and promising tool in the fields of signal processing and data analysis. However, the application of wavelet-based method in single-cell RNA sequencing (scRNA-seq) data is little known.
Tong Liu   +5 more
doaj   +1 more source

Adult-type granulosa cell tumor with pleural effusion: A rare case report

open access: yesMedicine
Rationale: Adult granulosa cell tumors (AGCTs), representing the most prevalent subtype of sex cord-stromal tumors in the ovary, predominantly manifest in perimenopausal and postmenopausal women. A notably uncommon clinical manifestation of AGCTs is the concomitant development of pleural effusion, a condition that may be ...
Minghan Chai   +4 more
openaire   +2 more sources

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle   +11 more
wiley   +1 more source

Renal tumors with different histological types occurring in the same kidney: A case report

open access: yesUrology Case Reports
We report on one rare clinical case where renal tumors of different histological types occurred simultaneously. An 84-year-old male with two right renal tumors underwent radical nephrectomy. Pathology revealed chromophobe renal cell carcinoma (ChRCC) and
Maeda Akihiro   +6 more
doaj   +1 more source

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa   +10 more
wiley   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas   +39 more
wiley   +1 more source

Requests for red cells with rare blood types in the Netherlands [PDF]

open access: yesImmunohematology, 2016
Jessie S, Luken   +3 more
openaire   +3 more sources

Rare Copy Number Variants Reveal Critical Cell Types and Periods of Brain Development in Neurodevelopmental Disorders

open access: yesBiological Psychiatry Global Open Science
Background: Multiple copy number variations (CNVs) in the human genome are associated with neurodevelopmental disorders (NDDs). Their markedly larger effect sizes and penetrance than common risk variants make them invaluable for investigating the ...
Susmita Malwade   +3 more
doaj   +1 more source

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