Скачать с ютуб Niemann-Pick Disease - Case Based discussion , Usmle step 1 Biochemistry в хорошем качестве

Niemann-Pick Disease - Case Based discussion , Usmle step 1 Biochemistry

📌 𝐅𝐨𝐥𝐥𝐨𝐰 𝐨𝐧 𝐈𝐧𝐬𝐭𝐚𝐠𝐫𝐚𝐦:-   / drgbhanuprakash   📌𝗝𝗼𝗶𝗻 𝗢𝘂𝗿 𝗧𝗲𝗹𝗲𝗴𝗿𝗮𝗺 𝗖𝗵𝗮𝗻𝗻𝗲𝗹 𝗛𝗲𝗿𝗲:- https://t.me/bhanuprakashdr 📌𝗦𝘂𝗯𝘀𝗰𝗿𝗶𝗯𝗲 𝗧𝗼 𝗠𝘆 𝗠𝗮𝗶𝗹𝗶𝗻𝗴 𝗟𝗶𝘀𝘁:- https://linktr.ee/DrGBhanuprakash A group of autosomal recessive lysosomal storage disorders of hereditary acid sphingomyelinase deficiency. Characteristic finding is hepatosplenomegaly, starting in early infancy. The neuropathic type of Niemann-Pick disease (NPD type A) results in rapid neurologic deterioration and death by age 3. The non-neuropathic type (NPD type B) is of later and milder onset, and is characterized by organ enlargement and cherry-red spot of the retina. Other signs and symptoms include hypersplenism and resulting thrombocytopenia, liver dysfunction, pulmonary deterioration, atherogenic lipid profile, and osteopenia. Infrequently, neurologic deterioration occurs in NPD type B. Life expectancy is longer, even extending into adulthood. NPD type C presents at any age: at infancy with ascites, liver and respiratory disease, hypotonia, and delayed development; in childhood with ataxia, dystonia, seizures, and vertical supranuclear gaze palsy; and in adults, often with dementia and psychiatric disorders.