Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity.

Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, pointed chin, which results in a triangular face. It can also include body asymmetry, among other characteristics. Its global incidence is estimated at 1 in 30 000-100 000 births, even though this figure may be underestimated.

Cromosoma 13 en anillo.

Background: Ring chromosome 13 is an infrequent cytogenetic disorder clinically characterized by growth and psychomotor development retardation, cognitive deficit, microcephaly, facial dysmorphism, genital alterations and thumb hypoplasia.

Case Report: A 8-month-old patient was evaluated for presenting short stature, psychomotor development delay, microcephaly, facial dysmorphism, penoscrotal hypospadias and thumb hypoplasia. Lissencephaly, neuroconductive hearing loss on the right side and small ostium secundum interatrial communication were evident.

[Hallazgos clínicos y epidemiológicos en la neurofibromatosis tipo 1 y el complejo esclerosis tuberosa en una serie de pacientes pediátricos].

IntroducciÓn: La neurofibromatosis tipo 1 (NF1) es una entidad genética con una incidencia de 1 entre 2,500 a 3,500 nacimientos. Por su parte, el complejo esclerosis tuberosa (CET) presenta una incidencia de 1 entre 6,000 a 10,000 nacimientos. Ambas entidades neurocutáneas cursan con un patrón de herencia autosómico dominante, expresividad variable y la morbimortalidad se encuentra asociada a complicaciones multisistémicas.

Beckwith-Wiedemann syndrome: clinical and etiopathogenic aspects of a model genomic imprinting entity.

The Beckwith-Wiedemann syndrome is the most common genetic entity in overgrowth, with an approximate incidence of 1 in 10 00013 700births. Its broad clinical spectrum includes pre- and postnatal macrosomia, macroglossia, pinna abnormalities, abdominal wall defects, visceromegaly, and hyperinsulinemic hypoglycemia. This syndrome predisposes to childhood cancer and is caused by diverse genetic and/or epigenetic disorders that usually affect the regulation of genes imprinted on chromosome 11p15.

[Clinical and molecular study in a family with multiple osteochondromatosis].

We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219CT, (p.Gln407Stop) in the EXT1 gene.

Pan-American League of Associations for Rheumatology-Central American, Caribbean and Andean Rheumatology Association Consensus-Conference Endorsements and Recommendations on the Diagnosis and Treatment of Chikungunya-Related Inflammatory Arthropathies in Latin America.

Background/objective: Although mortality rates related with chikungunya (CHIK) outbreaks in Latin America's (LA's) dengue-endemic rural and new urban regions are low, dealing with symptoms and sequelae can both produce a significant burden of disease and diminish quality of life-from many months to years-after the acute phase of the infection, with a significant impact on public and individual health.The aim of this work was to establish Pan-American League of Associations for Rheumatology-Central American, Caribbean and Andean Rheumatology Association (ACCAR) consensus-conference endorsements and recommendations on the diagnosis and treatment of CHIK-related inflammatory arthropathies transmitted by Aedes aegypti and Aedes albopictus in LA.

Methods: Based on the Consensus Development Conference format, a panel of ACCAR rheumatologist voting members (n = 10) took part in this Pan-American League of Associations for Rheumatology initiative.

Triglycerides/High density lipoprotein cholesterol ratio as a cardiometabolic risk marker in children and adolescents from Mérida city, Venezuela.

Objective: To determine the behavior of the triglycerides/HDL-cholesterol ratio (TG/HDL) as a cardiometabolic risk marker in children and adolescents from Mérida, Venezuela.

Methods: A total of 1292 children and adolescents aged 7-18 years who attended educational institutions in the Libertador Municipality were enrolled into this study. Anthropometric measurements and blood pressure values were recorded.

Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuela.

Objective: To assess the frequency and the clinical, biochemical, and molecular aspects of familial hypercholesterolemia (FH) in subjects attending an endocrinology unit.

Methods: An observational, descriptive study evaluating 3,140 subjects attending the endocrinology unit of Centro Médico Orinoco in Ciudad Bolívar, Venezuela, from 7 January 2013 to 9 December 2016. The index cases were selected using the Dutch Lipid Clinic Network criteria.

[Mosaic trisomy 18. Series of cases].

Trisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others.

PANLAR Consensus Recommendations for the Management in Osteoarthritis of Hand, Hip, and Knee.

Objective: The objective of this consensus is to update the recommendations for the treatment of hand, hip, and knee osteoarthritis (OA) by agreeing on key propositions relating to the management of hand, hip, and knee OA, by identifying and critically appraising research evidence for the effectiveness of the treatments and by generating recommendations based on a combination of the available evidence and expert opinion of 18 countries of America.

Methods: Recommendations were developed by a group of 48 specialists of rheumatologists, members of other medical disciplines (orthopedics and physiatrists), and three patients, one for each location of OA. A systematic review of existing articles, meta-analyses, and guidelines for the management of hand, hip, and knee OA published between 2008 and January 2014 was undertaken.

Epicardial adipose tissue thickness in children and adolescents with cardiometabolic risk factors.

Objective: To assess the relationship of epicardial adipose tissue (EAT) thickness with cardiometabolic risk factors (CRFs) in children and adolescents.

Methods: Seventy-seven subjects of both sexes aged 7-18 years were selected. Medical history, clinical parameters, and glucose, insulin, and lipid levels were collected.

Osteoarthritis in Latin America: Study of Demographic and Clinical Characteristics in 3040 Patients.

Background: Latin America is a heterogeneous region made up of different populations, cultures, latitudes, altitudes, and immigrants from different areas and ethnic groups.

Objective: The purpose of this study is to describe the clinical and demographic profile of patients with osteoarthritis (OA) evaluated by a selected group of rheumatologists in 13 Latin American countries.

Methods: A descriptive, observational, cross-sectional study was conducted in 13 Latin American countries of patients with symptomatic OA.

Effect of sitagliptin on epicardial fat thickness in subjects with type 2 diabetes and obesity: a pilot study.

The aim of the study was to assess the effect of sitagliptin addition on the epicardial adipose tissue (EAT) thickness in subjects with type 2 diabetes mellitus inadequately controlled on metformin monotherapy. This was a 24-week interventional pilot study in 26 consecutive type 2 diabetic patients, 14 females and 12 males average age of 43.8 ± 9.

A Central Role for JNK/AP-1 Pathway in the Pro-Oxidant Effect of Pyrrolidine Dithiocarbamate through Superoxide Dismutase 1 Gene Repression and Reactive Oxygen Species Generation in Hematopoietic Human Cancer Cell Line U937.

Pyrrolidine dithiocarbamate (PDTC) known as antioxidant and specific inhibitor of NF-κB was also described as pro-oxidant by inducing cell death and reactive oxygen species (ROS) accumulation in cancer. However, the mechanism by which PDTC indices its pro-oxidant effect is unknown. Therefore, we aimed to evaluate the effect of PDTC on the human Cu/Zn superoxide dismutase 1 (SOD1) gene transcription in hematopoietic human cancer cell line U937.

[Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)].

Pachyonychia congenita is a group of autosomal dominant inheritance pattern disorders characterized by hypertrophic nail dystrophy There are two main clinical subtypes: type 1 and 2. Pachyonychia congenita type 2 is readily differentiated from type 1 by multiple steatocysts and/or presence of natal teeth and can be confirmed by mutations of KRT6B and KRT17. We report the case of a 33-year-o/d female patient with the missense mutation in KRT17 gene (c.

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses].

Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the disease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18,000 to 1/50,000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses.

Metabolic syndrome in children and adolescents from Mérida city, Venezuela: Comparison of results using local and international reference values (CREDEFAR study).

Objective: To obtain local reference values for blood lipids and blood pressure (BP), and to determine the prevalence of metabolic syndrome (MS) in children and adolescents from Mérida, Venezuela, and to compare results using local and international cut-off values.

Materials And Methods: The study enrolled 916 participants of both sexes aged 9-18 years of age from educational institutions. Demographic, anthropometric, and BP data were collected.

Reference values of waist circumference and waist/hip ratio in children and adolescents of Mérida, Venezuela: comparison with international references.

Objective: To collect regional reference values of waist circumference (WC), and waist/hip ratio (WHR) in children and adolescents from Merida, Venezuela, and to compare them to international references.

Subjects And Methods: A total of 919 students aged 9-17 years from public and private educational establishments were assessed. Weight, height, WC, and WHR were measured.

[Epicardial adipose tissue: more than a simple fat deposit?].

Obesity increases the risk of development of atherosclerosis. However, this risk significantly depends on adipose tissue distribution in the body and ectopic accumulation of visceral adipose tissue (VAT). Recent evidence suggests that each visceral fat deposit is anatomically and functionally different.

[Non-alcoholic fatty liver disease and its association with clinical and biochemical variables in obese children and adolescents: effect of a one-year intervention on lifestyle].

Objective: To study the frequency of non-alcoholic fatty liver disease (NAFLD), its relationship to clinical and biochemical variables, and the effect 12-month's lifestyle intervention in obese children and adolescents.

Methods: Thirty-six obese patients aged 7 to 18 years, 42% female and 58% male, 72.2% prepubertal and 27.

[Gastric duplication. A case report and review of the literature].

Duplications of the alimentary tract are rare congenital anomalies. They can occur anywhere throughout the gastrointestinal tract. Gastric duplications represent only 7% of all gastrointestinal duplications.

[Obesity in schoolchildren from Merida, Venezuela: association with cardiovascular risk factors].

Objective: To investigate the prevalence of obesity and associated cardiovascular risk factors in schoolchildren in our city, given the influence of these factors on the development of atherosclerosis.

Methods: We studied a representative sample of second grade students composed of 370 children aged 7.82+/-0.