ataxia telangiectasia/diarré

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Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.

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Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhood-onset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is vast phenotype variation in patients with

Spectrum of primary immune deficiency at a tertiary care hospital.

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OBJECTIVE To report various primary immune deficiencies diagnosed in children at a tertiary care hospital, their clinical manifestations and laboratory profile. METHODS Case records of children diagnosed to have primary immunodeficiency disorders over a period of 24 months at a tertiary care

Clioquinol induces DNA double-strand breaks, activation of ATM, and subsequent activation of p53 signaling.

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Clioquinol, a Cu²⁺/Zn²⁺/Fe²⁺ chelator/ionophor, was used extensively in the mid 1900s as an amebicide for treating indigestion and diarrhea. It was eventually withdrawn from the market because of a link to subacute myelo-optic neuropathy (SMON) in Japan. The pathogenesis of SMON, however, is not

Loperamide, an antidiarrheal agent, induces apoptosis and DNA damage in leukemia cells.

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Loperamide, an antidiarrheal agent, is frequently used to treat patients with leukemia with symptoms of diarrhea during treatment. However, the effect of loperamide on leukemia cells is unknown. The MTT assay was used to explore the cytotoxic effect of loperamide on leukemia cells. Morphological

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