Results 161 to 170 of about 86,077 (294)

Comparison of the Quality of Life of Paraplegic Veterans and Disables; Case Study of Mazandaran Province, Iran

open access: yesطب جانباز, 2016
Aims: The quality of life of any person is affected by disabilities. However, the effects are not the same in persons with disabilities due to the accidence and in the veterans.
H. Tahmasebi   +3 more
doaj  

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

open access: yesAnnals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1360-1367, July 2025.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee   +19 more
wiley   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1499-1503, July 2025.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini   +24 more
wiley   +1 more source

Participation and satisfaction after spinal cord injury: results of a vocational, marriage and leisure outcome study in Iranian victim females after spinal cord injury

open access: yesطب جانباز, 2009
Objective(s): As a result of Iraq-Iran war, thirty-five female live through spinal cord injury (SCI) in IRAN. The purpose of this study was Insight in (1) the changes in participation in vocational and leisure activities (2) life satisfaction following ...
S. Karbalaei Esmaeili   +3 more
doaj  

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron   +8 more
wiley   +1 more source

A Rare Case Report of an Adult With Intraspinal Gouty Stones and Concurrent Knee Joint Involvement

open access: yesClinical Case Reports, Volume 13, Issue 7, July 2025.
ABSTRACT This case highlights the importance of considering spinal gout in patients with hyperuricemia presenting with atypical back pain or neurological symptoms. Multidisciplinary surgical management, including decompression and joint arthroscopy, combined with urate‐lowering therapy and lifestyle modifications, can achieve significant symptom relief
Bo Cao, Jinlong Wang
wiley   +1 more source

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