Search results for "Lip"
showing 10 items of 8306 documents
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical rep…
2021
Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing. Patient’s presentation We hereb…
Efavirenz induces alterations in lipid metabolism through AMPK activation
2008
Summary of results EFV produced an immediate reduction of mitochondrialfunction, evident by the significant and dose-dependentinhibition of mitochondrial O2 consumption and thedecrease of intracellular ATP and Δψm. This metabolicstress promoted the activation of AMPK, triggering severalof its signalling pathways, as EFV induced an increment inCD36 mRNA expression and in intracellular lipid content,which could have been a result of the formation of lipiddroplets. This intracellular lipid increase was not presentin cells treated with Compound C, which points to a keyrole for AMPK in these mechanisms. Conclusion Given that EFV treatment is usually prolonged, thesemechanisms may effect the gene…
P1699Non-ST segment elevation miocardial infarction (NSTEMI) vs. Unstable angina (UA) in young women aged < 45 years - differences in symptomatolo…
2019
Abstract Background Almost 50% of all ACS in young women are NSTEMI and UA. Due to the type of ACS we observed differences in the symptomatology, treatment and outcomes. The aim was to evaluate the differences in the clinical course and prognosis in young women aged ≤45 years with NSTEMI vs. UA. Methods We compared 1143 women aged ≤45y.o. with acute cardiac syndromes: 51% NSTEMI, 49% UA from the PL-ACS registry between 2007 - 2014. Results Chest pain was predominant in both group, with a higher incidence in NSTEMI group (91.7% vs. 84.7, p=0.0002). UA group was older (42y.o. vs. 41y.o p=0.003), more often presents atypical symptoms (8.0% vs. 1.5%, p<0,0001) mostly with dyspnea (3.9%vs. 1.…
0470 : Serum IF1 concentration as a predictor of mortality in coronary heart disease patients
2015
Aim The ecto-F1-ATPase/P2Y13 pathway plays a key role in reverse cholesterol transport. Exogenous IF1, known as the natural mitochondrial specific inhibitor of F1-ATPase activity, inhibits ecto-F1-ATPase activity and decreases HDL-C uptake by hepatocytes. We previously found that IF1 is present in human serum and is negatively associated with coronary heart disease (CHD). Here, we investigated the relationship between serum IF1 concentration and mortality in CHD patients. Methods Serum IF1 was measured in 624 CHD patients aged 45-74 from the GENES (Genetique et ENvironement en Europe du Sud) study. After 9.1 years follow up, mortality rate was 24.5%. Results Patients who had died were older…
Anthropometric parameters and permanent remission of comorbidities 10 years after open gastric bypass in a cohort with high prevalence of super-obesi…
2017
Abstract Background and aim Roux-en-Y gastric bypass (RYGB) is an effective treatment for weight loss in patients with morbid obesity. However, few studies have assessed its long-term efficacy in super-obese patients. The study objective was to analyse the long-term effectiveness of RYGB and its effect on improvement of comorbidities after 10 years of follow-up, and to compare the results depending on baseline BMI ( 2 vs ≥50 kg/m 2 ). Patients and methods A retrospective study was conducted in 63 patients referred for RYGB with a 10-year or longer follow-up period. Mean BMI before surgery was 55 kg/m 2 . Results Mean BMI decreased to 38.1 kg/m 2 at 10 years of follow-up. The success rates a…
Insulin Resistance and the Cardiometabolic Syndrome in HIV Infection
2009
Highly active antiretroviral therapy (HAART) has dramatically improved the prognosis of HIV-positive patients. However, long-term adverse effects of this therapy include dyslipidemia, insulin resistance (IR), changes in body fat distribution (lipodystrophy), and cardiometabolic syndrome (CMS). IR in HIV-positive patients does not seem to represent a significant independent risk factor for the development of cardiovascular disease; nevertheless, the association with other metabolic complications (dyslipidemia, fat redistribution) and CMS may increase the risk of type 2 diabetes and cardiovascular disease. The use of nucleoside analogue reverse transcriptase inhibitors is associated with the …
Transient chylomicronemia preceding the onset of insulin-dependent diabetes in a young girl with no humoral markers of islet autoimmunity
2004
OBJECTIVE: We investigated the possible causes of diabetes in a young child who presented with hyperglycemia associated with severe hypertriglyceridemia (>166 mmol/l), hypercholesterolemia (>38 mmol/l) and fasting chilomicrons. RESULTS: The patient did not have any of the HLA and autoantibody markers typically associated with type 1 diabetes. A glucose clamp failed to demonstrate insulin resistance (peripheral glucose utilization rate (M)=4.3 mg/kg per min) and there was no family history of type 2 diabetes or maturity onset diabetes in youth. Both fasting and stimulated C-peptide levels, including those in response to i.v. glucagon, were below the limit of detection. This is consiste…
Liraglutide Reduces Carotid Intima-Media Thickness by Reducing Small Dense Low-Density Lipoproteins in a Real-World Setting of Patients with Type 2 D…
2020
Introduction: Liraglutide has several non-glycemic effects, including those on plasma lipids and lipoproteins, contributing to its cardiovascular benefit; however, the exact underlying mechanisms remain unclear. We investigated a novel anti-atherogenic effect of liraglutide in a real-world prospective study on patients with type 2 diabetes (T2DM). Methods: Sixty-two patients with T2DM (31 men, 31 women; mean age ± standard deviation 61 ± 9 years) naïve to incretin-based therapies were treated with liraglutide (1.2 mg/day) as add-on therapy to metformin (1500–3000 mg/day) for 4 months. Laboratory analyses included the assessment of lipoprotein subclass profile by gel electrophoresis (Lipopri…
Small, dense low-density-lipoproteins and the metabolic syndrome.
2006
Small, dense low-density-lipoproteins (LDL) are associated with increased risk for cardiovascular diseases and diabetes mellitus and a reduction in LDL size has been reported in patients with coronary and non-coronary forms of atherosclerosis. LDL size has been accepted as an important predictor of cardiovascular events and progression of coronary artery disease as well as an emerging cardiovascular risk factor by the National Cholesterol Education Program Adult Treatment Panel III. Small, dense LDL, with elevated triglyceride levels and low HDL-cholesterol concentrations, constitute the 'atherogenic lipoprotein phenotype (ALP)', a form of atherogenic dyslipidemia that is a feature of type …
Ghrelin reduces hepatic mitochondrial fatty acid beta oxidation.
2007
Ghrelin is a 28-amino-acid peptide secreted during starvation by gastric cells. Ghrelin physiologically induces food intake and seems to alter lipid and glucid metabolism in several tissues such as adipose tissue and liver. Liver has a key position in lipid metabolism as it allows the metabolic orientation of fatty acids between oxidation and esterification. We investigated the effects of peripheral ghrelin administration on 2 crucial parameters of fatty acid oxidation: the levocarnitine (L-carnitine)-dependent entry of the fatty acids in the mitochondria and the mitochondrial fatty acid oxidation. Ghrelin was either given to rats prior to the hepatocyte preparation and culture or used to t…