Search results for "deficiency"

Molecular evolution methods to study HIV-1 epidemics

2018

Nucleotide sequences of HIV isolates are obtained routinely to evaluate the presence of resistance mutations to antiretroviral drugs. But, beyond their clinical use, these and other viral sequences include a wealth of information that can be used to better understand and characterize the epidemiology of HIV in relevant populations. In this review, we provide a brief overview of the main methods used to analyze HIV sequences, the data bases where reference sequences can be obtained, and some caveats about the possible applications for public health of these analyses, along with some considerations about their limitations and correct usage to derive robust and reliable conclusions.

Behavioral and clinical characteristics of people receiving medical care for HIV infection in an outpatient facility in Sicily, Italy

2016

Paola Di Carlo,1 Giuliana Guadagnino,1 Palmira Immordino,1 Giovanni Mazzola,2 Pietro Colletti,2 Ilenia Alongi,1 Lucia Adamoli,1 Francesco Vitale,1 Alessandra Casuccio1 1Department of Sciences for Health Promotion and Mother-Child Care “G D’Alessandro”, University of Palermo, 2Department of Medicinal Clinics and Emerging Diseases, “Paolo Giaccone” Polyclinic University Hospital, Palermo, Italy Aim: The authors examined a cohort of HIV-positive outpatients at the AIDS Center of Palermo University in Italy in order to identify factors related to the frequency of their visits to the outpatient facility for health care services.Methods: Two hundr…

Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome

2017

Obesogenic Diets Cause Alterations on Proteins and Theirs Post-Translational Modifications in Mouse Brains

2021

Obesity constitutes a major global health threat and is associated with a variety of diseases ranging from metabolic and cardiovascular disease, cancer to neurodegeneration. The hallmarks of neurodegeneration include oxidative stress, proteasome impairment, mitochondrial dysfunction and accumulation of abnormal protein aggregates as well as metabolic alterations. As an example, in post-mortem brain of patients with Alzheimer’s disease (AD), several studies have reported reduction of insulin, insulin-like growth factor 1 and insulin receptor and an increase in tau protein and glycogen-synthase kinase-3β compared to healthy controls suggesting an impairment of metabolism in the AD patient’s …

Pathways of care for HIV infected children in Beira, Mozambique: pre-post intervention study to assess impact of task shifting

2018

Abstract Background In 2013, Mozambique implemented task-shifting (TS) from clinical officers to maternal and child nurses to improve care for HIV positive children < 5 years old. A retrospective, pre-post intervention study was designed to evaluate effectiveness of a new pathway of care in a sample of Beira District Local Health Facilities (LHFs), the primary, local, community healthcare services. Methods The study was conducted by accessing registries of At Risk Children Clinics (ARCCs) and HIV Health Services. Two time periods, pre- and post-intervention, were compared using a set of endpoints. Variables distribution was explored using descriptive statistics. T-student, Mann Whitney and …

Association of statin use and clinical outcomes in heart failure patients : a systematic review and meta-analysis

2019

Abstract Background The role of statins in patients with heart failure (HF) of different levels of left ventricular ejection fraction (LVEF) remains unclear especially in the light of the absence of prospective data from randomized controlled trials (RCTs) in non-ischemic HF, and taking into account potential statins’ prosarcopenic effects. We assessed the association of statin use with clinical outcomes in patients with HF. Methods We searched PubMed, EMBASE, Scopus, Google Scholar and Cochrane Central until August 2018 for RCTs and prospective cohorts comparing clinical outcomes with statin vs non-statin use in patients with HF at different LVEF levels. We followed the guidelines of the 2…

The metabolic outcomes of growth hormone treatment in children are gender specific

2018

Objective To evaluate the impact of gender on the clinical and metabolic parameters in prepubertal growth hormone deficiency (GHD) children at diagnosis and during GH treatment (GHT). Design The data of 105 prepubertal children (61 males, 44 females, mean age 6.8 ± 0.7 years) affected by idiopathic GHD were retrospectively evaluated. Methods Body height, BMI, waist circumference (WC), IGF-I, HbA1c, lipid profile, fasting and after-OGTT glucose and insulin levels, insulin sensitivity and secretion indices were evaluated at baseline and after 24 months of GHT. Results At baseline, no significant difference was found in all clinical, hormonal and metabolic parameters between males and females…

Role of T-Cell Polarization and Inflammation and Their Modulation by n-3 Fatty Acids in Gestational Diabetes and Macrosomia.

2015

Th (T helper) cells are differentiated into either Th1 or Th2 phenotype. It is generally considered that Th1 phenotype is proinflammatory, whereas Th2 phenotype exerts anti-inflammatory or protective effects. Gestational diabetes mellitus (GDM) has been associated with a decreased Th1 phenotype, whereas macrosomia is marked with high expression of Th1 cytokines. Besides, these two pathological situations are marked with high concentrations of inflammatory mediators like tumor necrosis factor-α(TNF-α) and interleukin-6 (IL-6), known to play a pivotal role in insulin resistance. Dietary n-3 polyunsaturated fatty acids (n-3 PUFAs) may exert a beneficial effect by shifting Th1/Th2 balance to a …

Large-scale screening of lipase acid deficiency in at risk population

2021

International audience; BACKGROUND: Lysosomal acid lipase deficiency (LALD, OMIM#278000) is a rare lysosomal disorder with an autosomal recessive inheritance. The main clinical manifestations are related to a progressive accumulation of cholesteryl esters, triglycerides or both within the lysosome in different organs such as the liver, spleen, and cardiovascular system. A wide range of clinical severity is associated with LALD including a severe very rare antenatal/neonatal/infantile phenotype named Wolman disease and a late-onset form named cholesteryl ester storage disease (CESD). METHODS: This study aimed to investigate a cohort of at-risk patients (4174) presenting with clinical or biol…

Association of Non-Invasive Markers of Liver Fibrosis with HCV Coinfection and Antiretroviral Therapy in Patients with HIV

2019

Abstract The aim of this study was to assess the main effects and interaction between viral hepatitis C (HCV) coinfection and antiretroviral therapy (ART) by using a nonparametric ANOVA on direct and indirect markers of liver fibrosis in HIV-infected patients. The sample included 178 HIV patients aged from 23 to 65 (36% females). The following parameters were determined in blood of patients: hyaluronic acid, pro-matrix metalloproteinase-1, alanine aminotransferase, aspartate aminotransferase, and platelet count. The FIB-4 index was also calculated. The nonparametric ANOVA revealed no significant interaction between HCV coinfection and ART. This provides evidence for an independent contribut…