Relationship of Mitochondrial DNA Oxidation and Content with Metabolic Syndrome and Cardiovascular Risk in Obesity Phenotypes.

Objective: Obesity, chronic inflammation, and oxidative stress can influence mitochondrial DNA (mtDNA) content. Our objective was to evaluate the oxidation level and content of mtDNA and its relationship with metabolic parameters in metabolically healthy obese (MHO) compared to metabolically unhealthy obese (MUO) and normal weight (NW) controls.

Materials And Methods: We studied 94 NW, 95 MHO, and 97 MUO individuals between 18 and 80 years old.

Phenotype similarities in automatically grouped T2D patients by variation-based clustering of IL-1β gene expression.

Background: Analyzing longitudinal gene expression data is extremely challenging due to limited prior information, high dimensionality, and heterogeneity. Similar difficulties arise in research of multifactorial diseases such as Type 2 Diabetes. Clustering methods can be applied to automatically group similar observations.

Polycystic ovary syndrome in Latin American populations: What is known and what remains unresolved.

Polycystic ovary syndrome (PCOS) is one of the main endocrine and reproductive disorders affecting women in their reproductive age. The syndrome is considered a multifactorial pathology. Therefore, genetic susceptibility and environmental factors contribute to PCOS development and phenotypic manifestation.

Fetal programming by androgen excess impairs liver lipid content and PPARg expression in adult rats.

It is known that prenatal hyperandrogenization induces alterations since early stages of life, contributing to the development of polycystic ovary syndrome affecting the reproductive axis and the metabolic status, thus promoting others associated disorders, such as dyslipidemia, insulin resistance, liver dysfunction, and even steatosis. In this study, we aimed to evaluate the effect of fetal programming by androgen excess on the hepatic lipid content and metabolic mediators at adult life. Pregnant rats were hyperandrogenized with daily subcutaneous injections of 1 mg of free testosterone from days 16 to 19 of pregnancy.

Telomere Length Differently Associated to Obesity and Hyperandrogenism in Women With Polycystic Ovary Syndrome.

Background: Polycystic Ovary Syndrome (PCOS) often present metabolic disorders and hyperandrogenism (HA), facts that may influence the telomere length (TL).

Aims: To compare the absolute TL (aTL) between women with PCOS and control women, and their association with the presence of obesity and HA parameters.

Materials And Methods: The PCOS group included 170 unrelated women outpatients and the control group, 64 unrelated donor women.

MODY patients exhibit shorter telomere length than non-diabetic subjects.

Background: Given the increasing evidence supporting the association between telomere shortening and diabetes, the aim of the present work was to establish whether MODY patients suffer a reduction in telomere lenght (TL) due to oxidative stress produced by chronic hyperglycemia, despite not presenting insulin resistance or inflammation.

Methods: We analysed clinical and biochemical parameters in 35 MODY2 and 12 MODY3 patients compared with 48 control subjects. The absolute telomere length (aTL) of peripheral blood leukocytes was measured using the quantitative polymerase chain reaction (qPCR).

Relationship between the IL-1β serum concentration, mRNA levels and rs16944 genotype in the hyperglycemic normalization of T2D patients.

To evaluate Interleukin 1-beta (IL-1β) serum and mononuclear leucocyte mRNA levels, also rs16944 (-511C/T) genotype, in relation to hyperglycemic normalization in Type 2 diabetes (T2D) patients, we recruited 30 individuals recently T2D diagnosed with hyperglycemia studied at basal time and after 6 and 12 months of the normalization treatment. At basal time, the T polymorphic allele of the rs16944 was associated with lower IL-1β mRNA expression (p = 0.006); and higher glucose level was positive correlated to IL-1β protein levels (p = 0.

Increased chemerin serum levels in hyperandrogenic and normoandrogenic women from Argentina with polycystic ovary syndrome.

Aim: To assess serum chemerin levels and investigate the association of chemerin with the hyperandrogenic and normoandrogenic phenotypes of Polycystic Ovary Syndrome (PCOS) and with the metabolic status of the analyzed population.

Material And Methods: A cross-sectional study was conducted on 106 women with PCOS and 60 healthy controls from Argentina. Patients were classified as showing a hyperandrogenic or normoandrogenic phenotype.

Getting to Know the Gut Microbial Diversity of Metropolitan Buenos Aires Inhabitants.

In recent years, the field of immunology has been revolutionized by the growing understanding of the fundamental role of microbiota in the immune system function. The immune system has evolved to maintain a symbiotic relationship with these microbes. The aim of our study was to know in depth the uncharacterized metagenome of the Buenos Aires (BA) city population and its metropolitan area, being the second most populated agglomeration in the southern hemisphere.

Immunological and clinical characteristics of latent autoimmune diabetes in the elderly.

Background: Latent autoimmune diabetes in adults (LADA) is determined by both a noninsulin-dependent clinical presentation and an autoimmune pathogenic process. Glutamic acid decarboxylase antibody (GADA) constitutes the most important marker, although IA-2A and ZnT8A also define LADA presentation. Type 2 diabetes mellitus (T2DM) is the most prevalent type particularly over 65 years old.

- 174 G>C IL-6 polymorphism and primary iron overload in male patients.

Primary iron overload (IO) is commonly associated with mutations in the hereditary hemochromatosis gene (HFE). Nonetheless, other genetic variants may influence the development of IO beyond HFE mutations. There is a single nucleotide polymorphism (SNP) at - 174 G>C of the interleukin (IL)-6 gene which might be associated with primary IO.

Inhibition of Osteoblast Function by is Reversed by Dehydroepiandrosterone and Involves ERK1/2 and Estrogen Receptor.

induces an inflammatory response that stimulates the endocrine system resulting in the secretion of cortisol and dehydroepiandrosterone (DHEA). Osteoarticular brucellosis is the most common presentation of the active disease in humans, and we have previously demonstrated that infection inhibits osteoblast function. We aimed to evaluate the role of cortisol and DHEA on osteoblast during infection.

Metabolically healthy obese individuals present similar chronic inflammation level but less insulin-resistance than obese individuals with metabolic syndrome.

The Metabolic Syndrome (MetS) is a cluster of cardiometabolic risk factors, usually accompanied by the presence of insulin resistance (IR) and a systemic subclinical inflammation state. Metabolically healthy obese (MHO) individuals seem to be protected against cardiometabolic complications. The aim of this work was to characterize phenotypically the low-grade inflammation and the IR in MHO individuals in comparison to obese individuals with MetS and control non obese.

Metabolically healthy obese women have longer telomere length than obese women with metabolic syndrome.

Introduction: Obesity is the principal component in the Metabolic Syndrome (MetS) that determines the progression of metabolic complications. Metabolically healthy obese (MHO) individuals seem to be protected against those complications. Telomere length (TL) as a novel marker of cellular aging had a complex relationship to the MetS.

Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.

Two distinct syndromes that link α-thalassemia and intellectual disability (ID) have been described: ATR-X, due to mutations in the ATRX gene, and ATR-16, a contiguous gene deletion syndrome in the telomeric region of the short arm of chromosome 16. A critical region where the candidate genes for the ID map has been established. In a pediatric patient with Hemoglobin H disease, dysmorphic features and ID, 4 novel and clinically relevant Copy Number Variants were identified.

[Molecular bases of α-thalassemia in Argentina].

The α-thalassemia is one of the most common hereditary disorders worldwide. Currently, molecular diagnostics is the only available tool to achieve an accurate diagnosis. The purpose of this study was to characterize the molecular bases of these syndromes in our environment and to establish genotype-phenotype associations.

Association between β2-adrenoceptor (ADRB2) haplotypes and insulin resistance in PCOS.

Objective: The aim of this study was to explore β2-adrenoceptor (ADRB2) haplotype associations with phenotypes and quantitative traits related to insulin resistance (IR) and the metabolic syndrome (MS) in a polycystic ovary syndrome (PCOS) population. A secondary purpose was to assess the association between ADRB2 haplotype and PCOS.

Design: Genetic polymorphism analysis.

Pro12Ala polymorphism of the peroxisome proliferatoractivated receptor-gamma gene is associated with metabolic syndrome and surrogate measures of insulin resistance in healthy men: interaction with smoking status.

Background: The Pro12Ala polymorphism (rs1801282), a nonsynonymous substitution of peroxisome proliferator-activated receptor-gamma (PPARG), has been robustly associated with type 2 diabetes. However, its role in metabolic syndrome (MetS) remains poorly understood. The associations among rs1801282, MetS and surrogate measures of insulin resistance (IR) were investigated in the present study.

[Polymorphism in CYP11alpha and CYP17 genes and the etiology of hyperandrogenism in patients with polycystic ovary syndrome].

The polycystic ovary syndrome (PCOS) is a heterogeneous multifactorial endocrine metabolic disorder with genetic predisposition affecting 6% of women in the reproductive age. This syndrome is characterized by the presence of oligo-anovulation, hyperandrogenism and polycystic ovaries. Several genes have been postulated as responsible for the etiology of this disorder.

No evidence of association of CTLA-4 -318 C/T, 159 C/T, 3' STR and SUMO4 163 AG polymorphism with autoimmune diabetes.

Autoimmune diabetes is an organ specific and multifactorial disorder including insulin dependent diabetes mellitus (Type 1 Diabetes) and latent autoimmune diabetes in adults (LADA), which progresses to insulin dependency because of the beta cells destruction. Several polymorphisms in different genes have been associated with diabetes. The CTLA4 gene is considered a down regulator of T cell function, and the SUMO4 gene encodes a small ubiquitin-like modifier implicated in the intensity and duration of the immune response.

A simple method for the identification of three major haplotypes of the beta2AR.

We have developed a simple and efficient SSCP (single strand conformational polymorphism) method for haplotype determination of beta2AR using four polymorphisms. The six different SSCP patterns were grouped into three major haplotypes named I, II and III. We studied a population of 199 individuals displaying all the haplotypes: 34.

Cytotoxic T lymphocyte antigen 4 heterozygous codon 49 A/G dimorphism is associated to latent autoimmune diabetes in adults (LADA).

Autoimmune diabetes is an organ specific and multifactorial disorder with a classical onset as insulin dependent diabetes mellitus (IDDM) and with another form of onset as latent autoimmune diabetes in adults (LADA), which has a slower onset and a later progress to insulin dependency as a result of the beta cells destruction. The cytotoxic T lymphocyte-antigen 4 (CTLA4) has been identified as a susceptible marker of the disease; it is considered a down regulator of T cell function, playing a key role in autoimmunity. We analyzed CTLA4 codon 49 A/G polymorphism in 123 IDDM patients, 63 LADA patients and 168 healthy non-diabetic control individuals.

[HLA DQB1 genotyping in latent autoimmune diabetes of adults (LADA)].

Autoimmune diabetes is a complex, multifactorial disease caused by the interaction of genetic and environmental factors. This autoimmune diabetes is commonly manifested in childhood and adolescence with a fast onset (type 1 diabetes, IDDM) and it can occur in adult patients with a slow onset with delayed insulin requirement, (latent autoimmune diabetes in adults, LADA ). Autoimmune diabetes has strong class II HLA association mainly with DQB gene which constitutes the first susceptibility locus.

Viability and infectiousness of eggs of Echinococcus granulosus aged under natural conditions of inferior arid climate.

We studied the viability and infectiousness of aged Echinococcus granulosus eggs by in vivo evaluation in ovines. Our results demonstrated that after 41 months of ageing of the eggs under environmental conditions of an inferior arid climate (Patagonia, Argentina), they were still able to produce infection in 4/4 ovines challenged with 1200 eggs per ovine. In the ovines experimentally infected with these aged eggs, the occurrence of hepatic and pulmonary cysts was determined by necropsy, histologic and genetic studies.

Variable number of tandem repeats of the insulin gene determines susceptibility to latent autoimmune diabetes in adults.

Background: The different clinical presentations of latent autoimmune diabetes in adults (LADA) and type 1 diabetes mellitus may be the result of susceptibility genes in determining the mode of onset. We analyzed the 5' polymorphisms of the insulin mini-satellite region (INS), a variable number of tandem repeats (VNTR) [repeat units; RU]. We evaluated the association of the different INS-VNTR alleles in patient susceptibility to LADA autoimmune diabetes.