منابع مشابه
new npc suspicion index :
np-c is a severe, progressive and irreversible neurovisceral disease, which is invariably fatal. np-c is a rare disease, with an estimated minimal incidence of 1/120,000 live births . np-c is caused by mutations in npc1 (~95% of patients) or npc2 genes .defective npc1 and npc2 proteins result in a disruption of lipid metabolism . one of special features of this disorder is heterogeneous manifes...
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Permethrin is a synthetic Type I pyrethroidal neurotoxic pesticide that has been responsible for accidental animal deaths. Despite its widespread use, there are no published case reports on pediatric intensive care unit admissions due to permethrin exposure. We report the unusual and varied presentations of permethrin toxicity in three siblings presenting to a tertiary care pediatric intensive ...
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Mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE), is an autosomal recessive disease, is one of the mitochondrial disorders, and is a multisystem disease clinically defined by progressive ophthalmoplegia, peripheral neuropathy, leukoencephalopathy, mitochondrial abnormalities and severe gastrointestinal involvement. Mitochondrial disorders have clinical manifestations reflecting th...
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Elderly persons with active tuberculosis may present with the classic features, such as cough, hemoptysis, and fever, but some patients present with less typical signs, such as hepatosplenomegaly, liver function abnormalities, and anemia. A high index of suspicion is required when a patient presents with cough or pneumonia unresponsive to conventional therapy. Acid-fast smear and mycobacterial ...
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ژورنال
عنوان ژورنال: Pediatrics in Review
سال: 2013
ISSN: 0191-9601,1526-3347
DOI: 10.1542/pir.34-11-531