Results 211 to 220 of about 1,284,538 (295)

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

Annals 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, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

A Narrative Review of the Changing Landscape of Pediatric Practice in India: Public Health Triumphs and Professional Crises. [PDF]

Cureus
Sakaleshpur Kumar V.
europepmc   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients. [PDF]

Mol Genet Genomic Med
Ou S, Zhang S, Yang Q, Zhang Q, Zhou X, Zhang Q, Rong X, Qi N, Qian J, Xi B, Lin R, Wei S, Su J, Qin Z, Luo J.   +14 more
europepmc   +1 more source

Adult‐Onset Subacute Sclerosing Panencephalitis Presenting With Subacute Cognitive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe the case of a 41‐year‐old man diagnosed with adult‐onset subacute sclerosing panencephalitis (SSPE). The patient presented with subacute progressive cognitive deficits and a neuropsychological profile indicating predominant frontoparietal dysfunction. MRI showed only mild parietal‐predominant cerebral atrophy.
Dennis Yeow, Nicola McKern, Vincent Oxenham, Kate Ahmad, Omar Ahmad   +4 more
wiley   +1 more source

Early Postnatal Polymerase Chain Reaction Testing in the Identification of Perinatal Transmission of Hepatitis C Virus. [PDF]

Clin Infect Dis
Prasad M, Sandoval GJ, Saade GR, Hughes BL, Clifton RG, Reddy UM, Bartholomew A, Salazar A, Chien EK, Tita ATN, Thorp JM, Metz TD, Wapner RJ, Sabharwal V, Simhan HN, Swamy GK, Heyborne KD, Sibai BM, Grobman WA, El-Sayed YY, Casey BM, Parry S, Macones GA.   +22 more
europepmc   +1 more source

Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt, Marius Ygonia, Ali Manouchehrinia, Philippe Lefrançois, Ingrid Kockum, Adil Harroud   +5 more
wiley   +1 more source

The Family Stress Model in families of children with rare diseases: a cross-sectional multilevel path analysis for understanding family dynamics. [PDF]

Front Public Health
Boettcher J, Hohmann S, Daubmann A, Denecke J, Muntau AC, Wiegand-Grefe S, Zapf H.   +6 more
europepmc   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

Real‐World Performance of CSF Kappa Free Light Chains in the 2024 McDonald Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Kappa free light chains (KFLCs) in the cerebrospinal fluid (CSF) have a similar performance to CSF‐restricted oligoclonal bands (OCB) for multiple sclerosis (MS) diagnosis. To help with implementation, we set out to resolve several remaining uncertainties: (1) performance in a real‐world cohort and the 2024 McDonald criteria; (2 ...
Maya M. Leibowitz, Ryan Cooper, Stefania Kaninia, Kathryn I. Challis, Will Greenway, Maria Bonello, Mahmoud Elbahnasawi, Deborah T. Shode, Dominika Gajdasik, Victor Iliev, Alison M. E. Whitelegg, Ian Galea   +11 more
wiley   +1 more source