نتایج جستجو برای: npc disease
تعداد نتایج: 1493906 فیلتر نتایج به سال:
Niemann-Pick type C1 (NPC) disease is a lysosomal storage disease caused by mutations in the NPC1 gene, leading to an increase in unesterified cholesterol and several sphingolipids, and resulting in hepatic disease and progressive neurological disease. We show that subcutaneous administration of the pharmaceutical excipient 2-hydroxypropyl-β-cyclodextrin (HPβCD) to cats with NPC disease amelior...
Understanding neurodegenerative disease progression and its treatment requires the systematic characterization and manipulation of relevant cell types and molecular pathways. The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NPC) is highly amenable to genetic approaches that allow exploration of the disease biology at the organismal, cellular and molecular level. Alt...
Niemann-Pick type C (NPC) disease is an autosomal recessive neurovisceral lipid and storage disorder characterized by abnormal sequestration of unesterified cholesterol within the late endosomal/lysosomal compartment of all cells in the body. This disease primarily affects children and is characterized by hepatic and pulmonary dysfunction, neurodegeneration and death at an early age. Currently,...
INTRODUCTION Nasopharyngeal carcinoma (NPC) is a rare malignancy in children. Nasal obstruction, otitis media with effusion, pain in the ear, hearing problems, and unusual neck mass are among the signs and symptoms of this malignancy. CASE REPORT We report the case of a 13-year-old girl with NPC who later developed acute lymphoblastic leukemia (ALL) through the course of her disease. To our k...
Patients with stage IV nasopharyngeal carcinoma (NPC) have a poor prognosis, even with effective chemotherapy. Target agents combined with chemotherapy may improve NPC patients' outcome. The case of a patient with NPC, who was treated by adding bevacizumab to chemotherapy after disease progression using first-line chemotherapy, is reported. Recently published literature about effects of combini...
Macrophages in hyperlipidemic conditions accumulate cholesterol esters and develop into foamy transformed macrophages. During this transformation, macrophages demonstrate endoplasmic reticulum fragmentation and consequently produce acyl coenzyme A: cholesterol acyltransferase 1 (ACAT1)-positive late endosomes (ACAT1-LE). ACAT1-LE-positive macrophages effectively esterify modified or native low-...
Immunocytochemical stains for three epithelial cell markers--keratin, epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA)--have been examined on paraffin-embedded material from 14 patients with nasopharyngeal carcinoma (NPC). Tumour cells staining positively for keratin were found in all cases and for EMA in eight; two tumours contained CEA-positive cells. Seven cases of Hodgki...
Nasopharyngeal carcinoma (NPC) is an Epstein-Barr virus-associated malignancy most common in East Asia, Africa and Alaska. Radiotherapy and cisplatin-based chemotherapy are the main treatment options. Unfortunately, disease response to concurrent chemoradiotherapy varies among patients with NPC, and many cases are resistant to cisplatin and radiotherapy. Signal transducer and activator of trans...
We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected offspring, the chromosome 18 parental contributions were identified by using allele-specific microsatellite markers. Significant linkage of NPC to an 18p genomic marker, D18S40, was indicated by a two-point lod score of 3.84. Analysis of meio...
Nasopharyngeal carcinoma (NPC) is a malignant disease of the head/neck region with a 5-year survival level of approximately 65%. To explore novel therapeutic strategies in the management of this disease, the potential of Ad5CMV-p53-mediated gene transfer to NPC cells was investigated in vitro. Two NPC cell lines, CNE-1 and CNE-2Z, were infected with either Ad5CMV-p53 or Ad5CMV-beta-galactosidas...
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