Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 81-year-old man who had suffered from hypertension for the preceding three years was admitted as an emergency to the department of neurology of our hospital with the chief complaint of dysarthria. He was diagnosed to have multiple lacunar cerebral infarcts by cranial CT, while the laboratory data showed liver dysfunction characteristic of cholestasis. Mild respiratory insufficiency and renal dysfunction were also found. Further radiological examinations on the liver and biliary tree (US, CT and ERC) were performed, and they revealed that the common bile duct was dilated due to two stone-like masses. He was referred to our department of surgery and underwent laparotomy. Intraoperative endoscopy disclosed intraductal papillomatous lesions. Because of the multiple complications of the patient, resection of the entire common bile duct including the gallbladder and the papilla of Vater without any resection of the pancreas was performed instead of pancreatoduodenectomy. The postoperative course was uneventful and he was discharged on the 31st POD. One year after operation, there is no sign of recurrence either clinically or radiologically. The potentially curative operation for cancer of the distal bile duct is pancreatoduodenectomy, but this is of so great a surgical stress that such a high risk case as described above might be unable to survive it. Even if he survived the perioperative period, he might have a poor quality of life due to postoperative complications. The macroscopic appearance of bile duct cancer is correlated to its invasive spread and prognosis.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Selective resection of the distal bile duct in a high risk patient with polypoid cancer of the intrapancreatic bile duct]. 213 Jul 95

Niemann-Pick disease type C (NPC) is an autosomal recessive lysosomal lipid storage disease associated with impaired intracellular cholesterol trafficking. A wide spectrum of clinical phenotype has been described, with a possible onset at all ages of life from the neonatal period to adulthood, more often in childhood. Typically, hepatosplenomegaly, dystaxia, dysphagia, dysarthria and dementia are presented in NPC patients. Neurologic symptoms vary according to the onset age, but prolonged neonatal cholestasis, splenomegaly, cataplexy and vertical supranuclear gaze palsy are more specific signs to the diagnosis of the disease. Impaired cholesterol trafficking and unesterified cholesterol accumulation in the late endosomes and lysosomals, as a results of mutations in NPC1 or NPC2 genes, are initial for the disease, and defective cellular autophagy, defective lysosomal calcium homeostasis and oxidative stress may all play roles in the physiological processes. The definite diagnosis requires demonstration of unesterified cholesterol accumulated in fibroblasts cultured from skin biopsies or of pathogenic mutation of NPC1/NPC2 genes. Miglustat, the only available treatment approved to date, can alleviate neurological symptoms and slow disease progression when administered earlier.
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PMID:[Research advances in diagnosis and therapy of Niemann-Pick disease type C]. 2601 11

Refractory vitamin E deficiency is thought to have irreversible effects on neurologic function. We report an adolescent boy with severe refractory vitamin E deficiency due to progressive familial intrahepatic cholestasis (PFIC) type 2. His consequent neurologic dysfunction included severe ataxia, dysmetria, dysarthria, and cranial nerve VI palsy. He underwent liver transplantation at age 13 due to his neurologic dysfunction; and afterward, he had marked improvement in neurologic function. We demonstrate that in a patient with PFIC 2 and severe refractory vitamin E deficiency, liver transplant can improve vitamin E absorption, prevent further neurological sequelae, and reverse prior neurologic dysfunction.
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PMID:Liver Transplantation as a Treatment for Severe Refractory Vitamin E Deficiency Related to Progressive Familial Intrahepatic Cholestasis Type 2 in a Pediatric Patient. 2811 44