Search results for "type"

PNPLA3 rs738409 C>G SNP is associated with histological features of NASH in genotype 1 chronic hepatitis C patients

2014

HCV genotype 1a and 1b: Similarities and differences in clinical features, therapeutic outcome and predictors of response

2014

Optimized threshold for serum HCV RNA to predict treatment outcomes in hepatitis C patients receiving peginterferon alfa-2a/ribavirin

2012

Summary.  It is unclear whether the current threshold for ‘high’ hepatitis C virus (HCV) RNA level (800 000 IU/mL) is optimal for predicting sustained virological response (SVR). We retrospectively analysed pretreatment HCV RNA levels and SVR rates in 1529 mono-infected and 176 HIV–HCV co-infected patients treated with peginterferon alfa-2a (40 kD) plus ribavirin. We improved the threshold for differentiating low and high viral load by fitting semiparametric generalized additive logistic regression models to the data and constructing receiver operating characteristics curves. Among HCV genotype 1 mono-infected patients, the difference in SVR rates between those with low and high baseline HC…

P0760 : PNPLA3 rs738409 I748M is associated with steatohepatitis in non obese subjects with hepatitis C

2015

MERTK rs4374383 AA genotype is associated with a lower prevalence of severe hepatic steatosis in non-alcoholic fatty liver disease

2014

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A…

2006

Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann–Pick disease type A/B) and Niemann–Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children ≤ 10 years of age with visceral organomegaly (hepatomegaly, splenomegaly, or hepatosplenomegaly) in whom a storage disorder was suspected. We conducted a retrospective, cross-sectional, referral, single-centre study to assess diagnostic test properties in 106 individuals. Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693–20982) in Gaucher disease (GD); 78…

Estrogen receptor alpha polymorphism modifies the association between childhood exercise and bone mass: follow-up study.

2007

This follow-up study confirms our previous findings that the ER-α PvuII polymorphism (Pp) modulates the association between exercise and bone mass. The differences in bone properties of girls with consistently low physical activity (LLPA) and consistently high physical activity (HHPA) were evident only in those bearing the heterozygote ER-α genotype (Pp). In particular, areal bone mineral density of the total femur, bone mineral content and areal bone mineral density of the femoral neck, and bone mineral content and cortical thickness of the tibia shaft were significantly (p < .05) lower in the Pp girls with LLPA than in their HHPA counterparts. These findings might partly explain the ge…

Penicillin induced epileptiform activity and EEG spectrum analysis of BDNF heterozygous mice: an in vivo electrophysiological study.

2011

Brain-derived neurotrophic factor (BDNF) heterozygous mice (BDNF (+/-)) kindle slowly and have a higher seizure threshold. However, BDNF (+/-) mice exhibit reduced cortical inhibition and disrupted balance of excitation/inhibition synaptic transmission. We investigated penicillin-induced focal cortical epileptiform activity and electroencephalogram (EEG) spectral power of BDNF (+/-) mice, by using electrocorticogram (ECoG) recordings. BDNF (+/-) mice (n=10) and wild type littermates (n=9) were anesthetized with i.p. urethane (1.750g/kg). The recordings of ECoG were carried out by using a data acquisition system and 100IU penicillin was administered intracortically to induce epileptiform act…

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.

2011

Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (…

Disposable chlorine dioxide wipes for high-level disinfection in the ENT department: A systematic review

2020

Abstract Background Nasopharyngoscope reprocessing methods should be effective, rapid and reproducible with moderate cost. Tristel Trio Wipes system (TTWS) is a manual reprocessing method based on chlorine dioxide that has lately emerged in ENT department. This review aims to collect evidence on this system. Methods The PubMed, Web of Science and Cochrane Library databases were searched for all the studies on TTWS or one of its components. Data were grouped according to the study type. Results Ten articles were included in the review. TTWS ensured high-level disinfection in laboratory and clinical setting. Although the limitations of the manual systems, TTWS proved to be faster than automat…