Results 41 to 50 of about 2,461,819 (231)
Case report: MELAS and concomitant presumed antiphospholipid antibody syndrome in an adult woman
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, and other features (short stature, headaches, seizures, and sensorineural hearing loss) constitute characteristics of MELAS syndrome.
Sirisha Nouduri +5 more
doaj +1 more source
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth +9 more
core +1 more source
MELAS syndrome as a unusual cause of hypoparathyroidism: clinical case
MELAS syndrome belongs to the group of progressive mitochondrial diseases associated with point mutations in mitochondrial DNA, and includes mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, which can combined with endocrine ...
Diliara Sh. Umiarova +4 more
doaj +1 more source
Stroke and migraine is there a possible comorbidity? [PDF]
The association between migraine and stroke is still a dilemma for neurologists. Migraine is associated with an increased stroke risk and it is considered an independent risk factor for ischaemic stroke in a particular subgroup of patients.
Del Balzo, Francesca +7 more
core +2 more sources
Mitochondrial diseases are a group of rare diseases presenting with heterogeneous clinical, biochemical, and genetic disorders caused by mutations in the mitochondrial or nuclear genome.
Nam Quang Tran +4 more
doaj +1 more source
Proteolytic Processing of OPA1 Links Mitochondrial Dysfunction to Alterations in Mitochondrial Morphology [PDF]
Many muscular and neurological disorders are associated with mitochondrial dysfunction and are often accompanied by changes in mitochondrial morphology.
Attardi, Giuseppe +11 more
core +2 more sources
Mitochondrial myopathy and comorbid major depressive disorder. effectiveness of dTMS on gait and mood symptoms [PDF]
Background: Mitochondrial myopathies (MMs) often present with leukoencephalopathy and psychiatric symptoms, which do not respond to or worsen with psychiatric drugs.
Angeletti, Gloria +18 more
core +1 more source
Introduction: Mitochondrial diseases are characterized by considerable clinical and genetic heterogeneity. Mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS) and Leigh syndrome (LS) are both established mitochondrial ...
Yanping Wei +3 more
doaj +1 more source
Vitiligo and autoimmune thyroid disorders [PDF]
Vitiligo represents the most common cause of acquired skin, hair and oral depigmentation, affecting 0.5-1% of the population worldwide. It is clinically characterized by the appearance of disfiguring circumscribed skin macules following melanocyte ...
Baldini, Enke +10 more
core +2 more sources
Letter to the Editor With interest we read the article by Thomas et al. about a 44 year old female with MELAS syndrome due to the m.3243A > G mutation, which manifested cardiologically as hypertrophic cardiomyopathy and episodes of supraventricular tachycardia requiring atenolol [1]. We have the following comments and concerns.
Josef Finsterer, Sinda Zarrouk-Mahjoub
openaire +3 more sources

