Search results for "Metabolic disease"

Systemic therapies for mucopolysaccharidosis: ocular changes following haematopoietic stem cell transplantation or enzyme replacement therapy - a rev…

2010

The management of mucopolysaccharidosis (MPS) is focused on the multi-organ, sometimes life-threatening, clinical manifestations that occur over time. In the past, the limited, symptom-based treatment options led physicians to adopt a palliative approach towards individual disease-associated complications. The availability of systemic treatments such as haematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) has created a better prognosis for MPS patients, particularly when initiated early in life. As part of an integrated management approach, these therapies could be valuable in managing the ocular features that are present in many children with MPS. HSCT has b…

Reproductive Dysfunction in Classical and Nonclassical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

2021

Patients with congenital adrenal hyperplasia (CAH) both with severe (classical CAH) and mild (nonclassical NCAH) forms exhibit a wide spectrum of reproductive dysfunction. In this review, only CAH cases with 21-hydroxylase deficiency (21-OHd) will be discussed, as they represent almost all of the patients in reproductive clinical settings.

Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I

2019

The quantification of enzyme activity in the patient treated with enzyme replacement therapy (ERT) has been suggested as a tool for dosage individualization, so we conducted a study to evaluate the relationship between glucocerebrosidase activity and clinical response in patients with Gaucher disease type I (GD1) to ERT. The study included patients diagnosed with GD1, who were being treated with ERT, and healthy individuals. Markers based on glucocerebrosidase activity measurement in patients' leucocytes were studied: enzyme activity at 15 min. post-infusion (Act(75)) reflects the amount of enzyme that is distributed in the body post-ERT infusion, and accumulated glucocerebrosidase activity…

Design and rationale of a nationwide screening analysis from the LIPIDOGRAM2015 and LIPIDOGEN2015 studies.

2022

IntroductionCardiovascular disease (CVD) is a major cause of morbidity and mortality throughout the world. The LIPIDOGRAM2015 study was performed to estimate the prevalence of risk factors for atherosclerotic diseases as well as cardiovascular and related disorders in the primary care setting in Poland. The LIPIDOGEN2015 sub-study was designed to include a random cohort of patients in order to analyse parameters related to lipid metabolism, oxidative stress, inflammatory responses, autoimmune disorders, and gene variants that confer susceptibility to cardiometabolic and atherosclerotic diseases.Material and methodsThe recruitment was carried out by 438 primary care physicians in Poland. The…

PCOS Phenotypes: Impact on Fertility

2018

Polycystic ovary syndrome (PCOS) is characterised by an extreme heterogeneity and at least four main phenotypes may be distinguished. In referred population, anovulatory hyperandrogenic phenotype (classic PCOS or phenotypes A and B) is by far the most common phenotype and presents the most severe endocrine and metabolic alterations. Ovulatory PCOS and normoandrogenic phenotype represent a mild form of PCOS that is more common in general population and/or (normoandrogenic) in some particular ethnic group. During their life, because of changes in lifestyle or because of spontaneous changes in ovarian and adrenal androgen secretion that occur during late reproductive age, patients may move fro…

2021

BACKGROUND Studies investigating a potential association between hypothyroidism and non-alcoholic fatty liver disease (NAFLD) showed conflicting results and large-scale population-based data from Germany on this topic are currently missing. OBJECTIVE It was the aim of this analysis to investigate the impact of thyroid gland disorders on the prevalence of NAFLD in Germany. METHODS In this case-control study, using the German disease Analyzer database (IQVIA), NAFLD patients were matched to patients without NAFLD by age, sex, index year, treating physician, diabetes mellitus type II, and obesity. The main outcome of the study was an association between thyroid gland disorders (hypothyroidism,…

Receptor for advanced glycation end products is subjected to protein ectodomain shedding by metalloproteinases.

2008

The receptor for advanced glycation end products (RAGE) is a 55-kDa type I membrane glycoprotein of the immunoglobulin superfamily. Ligand-induced up-regulation of RAGE is involved in various pathophysiological processes, including late diabetic complications and Alzheimer disease. Application of recombinant soluble RAGE has been shown to block RAGE-mediated pathophysiological conditions. After expression of full-length RAGE in HEK cells we identified a 48-kDa soluble RAGE form (sRAGE) in the culture medium. This variant of RAGE is smaller than a 51-kDa soluble version derived from alternative splicing. The release of sRAGE can be induced by the phorbol ester PMA and the calcium ionophore c…

Diabetes: Genetic variation underpins metformin response.

2016

Metformin is the first-line antidiabetic drug with over 100 million users worldwide, yet its mechanism of action remains unclear1. Here the Metformin Genetics (MetGen) Consortium reports a three-stage genome-wide association study (GWAS), consisting of 13,123 participants of different ancestries. The C allele of rs8192675 in the intron of SLC2A2, which encodes the facilitated glucose transporter GLUT2, was associated with a 0.17% (p=6.6×10−14) greater metformin-induced in haemoglobin A1c (HbA1c) in 10,577 participants of European ancestry. rs8192675 is the top cis expression quantitative trait locus (cis-eQTL) for SLC2A2 in 1,226 human liver samples, suggesting a key role for hepatic GLUT2 …

Cancer Signaling Transcriptome Is Upregulated in Type 2 Diabetes Mellitus

2020

We aimed to explore the differences in the whole transcriptome of peripheral blood mononuclear cells between elderly individuals with and without type 2 diabetes (T2D). We conducted a microarray-based transcriptome analysis of 19 individuals with T2D and 15 without. Differentially expressed genes according to linear models were submitted to the Ingenuity Pathway Analysis system to conduct a functional enrichment analysis. We established that diseases, biological functions, and canonical signaling pathways were significantly associated with T2D patients when their logarithms of Benjamini&ndash

Inflammation and impaired endothelium-dependant vasodilatation in non obese women with gestational diabetes mellitus: preliminary results

2013

International audience; BACKGROUND: To evaluate whether abnormal endothelial function, a common finding in gestational diabetes mellitus (GDM) pregnancies, can be explained by inflammatory cytokines. METHODS: Forearm skin blood flow (FSBF), into response to acetylcholine (Ach) (endothelium-dependent vasodilatation), were measured in 24 pregnant control subjects and 28 gestational diabetes mellitus (GDM) women, in the third trimester of gestation. A fasting glycemic and lipidic panel was obtained, and inflammatory cytokines (TNF-alpha and IL-6) and adiponectin were also determined. RESULTS: FSBF is significantly reduced in GDM group compared with control subjects (344.59 +/- 57.791 vs.176.38…