Results 91 to 100 of about 27,503 (244)
NDUFS8-Related Leigh Syndrome Mimicking a Leukodystrophy
Leigh syndrome is a progressive infantile neurodegenerative disorder of mitochondrial metabolism that often leads to decompensation in the setting of metabolic stress. It is genetically heterogenous with varied inheritance patterns.
Borja Angulo, Maria +5 more
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Adult Leigh Disease Without Failure to Thrive [PDF]
, 2011 Introduction: Most Leigh disease (LD) patients die before reaching adulthood, but there are reports of 'adult LD'. The clinical features of adult LD were quite different from those in infant or childhood cases.
Ichiro Yabe +11 more
core +1 more source
Criminology &Public Policy, EarlyView.Abstract Research Summary Individuals with intellectual and developmental disabilities (IDDs) face an elevated risk of victimization relative to their peers. Victims with IDD may view police departmental websites or policies to identify available accommodations in deciding to report their experience. The current study employs a convergent mixed‐methods
Cooper A. Maher +6 more
wiley +1 more source
A case of Leigh syndrome presented with paroxysmal body swing
HeliyonBackground: Leigh syndrome (LS) is a heterogeneous neurodegenerative disease that is the most common manifestation of mitochondrial disease in children. Methods: We report a case of Leigh syndrome with paroxysmal body swing in a 1-year-old boy.
Jia Zhang, Jing Gan, Jianjun Wang
doaj +1 more source
Leigh disease associated with a novel mitochondrial DNA ND5 mutation
, 2002 Leigh disease is a genetically heterogeneous, neurodegenerative disorder of childhood that is caused by defects of either the nuclear or mitochondrial genome. Here, we report the molecular genetic findings in a patient with neuropathological hallmarks of
Taylor RW; Morris AAM; Hutchinson M; Turnbull DM
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Integrative Zoology, EarlyView.This study identified a specific sequence of an extended drought followed by exceptional rainfall as a necessary precursor for mouse plagues in southeastern Australia. Long‐term rainfall anomalies interact with ecological processes to reset population dynamics, creating conditions that support rapid mouse population growth following periods of ...
Peter R. Brown
wiley +1 more source
A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum
DiagnosticsBackground: Leigh syndrome spectrum (LSS) is a novel nomenclature that encompasses both classical Leigh syndrome and Leigh-like phenotypes. Given the heterogeneity of disease presentation, a new consensus published recently addressed the main issues and ...
Manuela Schubert Baldo +4 more
doaj +1 more source
Anesthetic Management of a Pediatric Patient with Leigh Syndrome
Brazilian Journal of Anesthesiology, 2013 Background and objectives: Leigh syndrome (LS) is a rare disease caused by abnormalities of mitochondrial energy generation. The central nervous system is most frequently affected, with psychomotor underdevelopment, seizures, nystagmus, ophthalmoparesis,
Ismail Serhat Kocamanoglu +1 more
doaj +1 more source
A case of Leigh's disease with initial manifestation of dystonia
Yonsei Medical Journal, 1990 A case of Leigh's disease (subacute necrotizing encephalomyelopathy) is reported with such noteworthy features as early onset, dystonia, paraparesis the presence of low attenuation areas in both basal ganglias on computerized tomography of the brain and the presence of a high signal intensity in both basal ganglias in T2 weighted image by MR.
C W, Chung +6 more
openaire +2 more sources
Vocal Cord Paralysis and Hypoventilation in a Patient with Suspected Leigh Disease
, 2008 The authors report the case of a 16-month-old male with suspected Leigh disease, which was diagnosed on the basis of the clinical manifestations, abnormal lactate stimulation test, proton magnetic resonance spectroscopy, and neuroradiologic findings ...
王本榮;沈友仁;李旺祚 +1 more
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