hypohidrosis/obezitate

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Congenital insensitivity to pain with anhidrosis: a case report of a 33-year-old patient.

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Congenital insensitivity to pain with anhidrosis is a type IV hereditary sensory and autonomic neuropathy, presenting early in life. This disorder results from defective neural crest differentiation with loss of the first-order afferent system, which is responsible for sensations of pain and

Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys.

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The prognosis of Fabry disease has changed since enzyme-replacement treatment was introduced. Therefore, early diagnosis is instrumental. We describe a family presenting with chronic renal failure and proteinuria in which classic skin and neurological features were absent and the diagnosis of Fabry

A Probable Topiramate-Induced Limbs Paraesthesia and Rigid Fingers Flexion.

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BACKGROUND Topiramate is a well-known anticonvulsant drug with a broad spectrum of actions. It has been proposed in the treatment of several types of epileptic seizures both in monotherapy and in add-on. Its usage has been extended to other disorders including migraine, essential tremor, obesity,

Epidemiology of Exertional Heat Illness in the Military: A Systematic Review of Observational Studies

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Exertional heat illness (EHI) is an occupational hazard among military personnel. This systematic review describes the incidence, risk factors, clinical manifestations, and biomarkers of EHI in the military. Six databases from inception to 28 May 2020 were systematically reviewed using the PRISMA

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.

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Cohen syndrome (CS) is a rare autosomal recessive disorder associated with mutations in the vacuolar protein sorting 13 homolog B (VPS13B; formerly COH1) gene. The core clinical phenotype comprises a characteristic facial gestalt, marked developmental delay, and myopia. Additional, nonobligatory

Cytotoxicity assessment of Ma-huang (Ephedra) under different conditions of preparation.

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Ma-huang is a traditional Chinese medicinal herb derived from EPHEDRA: sinica Stapf and other EPHEDRA: species, used to treat asthma, nose and lung congestion, and fever with anhidrosis. It contains 0.5-2.5% by weight of total alkaloids, of which ephedrine accounts for 30 to 90%. Recently, large

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