Publications by authors named "Mohammed Chaudhary"

Objective: EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy. It is caused by a mutation in KCNJ10 gene. Less than thirty cases have been reported in the literature with emphasis on genetic mutation and renal tubulopathy.

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Acute disseminated encephalomyelitis is an immune-mediated inflammatory demyelinating disorder of the central nervous system. The first-line treatment is usually high-dose intravenous methylprednisolone. Intravenous immunoglobulin and plasmapheresis have also shown to be beneficial.

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Folinic acid-responsive seizures (FARS) are a rare treatable cause of neonatal epilepsy. They have characteristic peaks on CSF monoamine metabolite analysis, and have mutations in the ALDH7A1 gene, characteristically found in pyridoxine-dependent epilepsy. There are case reports of patients presenting with seizures at a later age, and with folate deficiency due to different mechanisms with variable response to folinic acid supplementation.

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Ataxia-telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by mutation in the ataxia-telangiectasia mutated gene (ATM). ATM is a large serine/threonine protein kinase, a member of the phosphoinositide 3-kinase-related protein kinase (PIKK) family whose best-studied function is as master controller of signal transduction for the DNA damage response (DDR) in the event of double strand breaks (DSBs). The DDR rapidly recognizes DNA lesions and initiates the appropriate cellular programs to maintain genome integrity.

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Disseminated cryptococcosis is a rare and often fatal disease in children. The majority of cases usually occur in individuals with defective cell-mediated immunity, most commonly due to HIV infection. The authors here in report an 8-year-old girl from Nepal who presented with fever, cough, headache, lymphadenopathy, hepatosplenomegaly and cutaneous lesions.

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We collected management information from the 1996 referral documents of 100 consecutive patients who came to us for continued treatment of breast cancer. Major deficiencies were noted with regard to clinical assessment, surgery, and pathology. Since 1997 we have intensified our personnel contacts with referring surgeons, and we have performed outreach visits.

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