High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

Exome sequencing (ES) has become the method of choice for diagnosing rare diseases, while the availability of short-read genome sequencing (SR-GS) in a medical setting is increasing. In addition, new sequencing technologies, such as long-read genome sequencing (LR-GS) and transcriptome sequencing, are being increasingly used. However, the contribution of these techniques compared to widely used ES is not well established, particularly in regards to the analysis of non-coding regions.

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.

Introduction: SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating SMG9 variants in a context of severe syndromic developmental disorder. To our knowledge, no additional patient has been described since this first report.

Methods: We performed exome sequencing in a patient exhibiting a syndromic developmental delay and in her unaffected parents and report the phenotypic features.

Factors associated with unmet need for contraception in Mexico: evidence from the National Survey of Demographic Dynamics 2014.

Background: Worldwide, the importance of contraception to control fertility has been recognized. A useful indicator of the gap between reproductive preferences and the provision of contraception is "unmet need for contraception". The aims of this paper are to estimate the levels of unmet need for contraception among married and single women, and to explore factors associated with unmet need for contraception for spacing and limiting births in Mexico.

[Sexual debut in Mexico: a comparison of household national surveys].

Objective: To estimate calendar of sexual debut in Mexico and its trends using national representative household surveys.

Materials And Methods: Analysis of five birth cohorts extracted from four national population based household surveys in Mexico (National Health Survey 2000, National Survey on Demographic Dynamics 2009, National Youth Survey 2010, and National Health & Nutrition Survey 2012), using as outcome the proportion of individuals that reported sexual debut before the age of 16 and before the age of 20.

Results: Overall, the four analyzed surveys produce consistent results, although some differences were found.

[Long term outcomes of sleeve gastrectomy for morbid obesity].

Background: Sleeve gastrectomy (SG) is a recent increasingly realized isolated procedure performed in the surgical treatment of obesity.

Aim: The goal of this study was to evaluate the long term postoperative results among a multicentric cohort.

Methods: Retrospective multicenter study including patients operated from 2006 to 2010 within the Brest's Bariatric Surgery Network.

Transiliac hernia after bone graft.

Lumbar hernias, namely transiliac hernias, are not frequent events and are almost always associated with bone graft harvesting from the iliac crest. We describe a case of transiliac hernia 10 years after bone graft harvest, the patient presenting with right colon incarceration. Diagnosis was made by CT scan.

Multiscale structures of lipids in foods as parameters affecting fatty acid bioavailability and lipid metabolism.

On a nutritional standpoint, lipids are now being studied beyond their energy content and fatty acid (FA) profiles. Dietary FA are building blocks of a huge diversity of more complex molecules such as triacylglycerols (TAG) and phospholipids (PL), themselves organised in supramolecular structures presenting different thermal behaviours. They are generally embedded in complex food matrixes.

Different fatty acids inhibit apoB100 secretion by different pathways: unique roles for ER stress, ceramide, and autophagy.

Although short-term incubation of hepatocytes with oleic acid (OA) stimulates secretion of apolipoprotein B100 (apoB100), exposure to higher doses of OA for longer periods inhibits secretion in association with induction of endoplasmic reticulum (ER) stress. Palmitic acid (PA) induces ER stress, but its effects on apoB100 secretion are unclear. Docosahexaenoic acid (DHA) inhibits apoB100 secretion, but its effects on ER stress have not been studied.

[The AIDS epidemics in Mexico up to 2008].

The HIV/AIDS epidemics in Mexico has remained stable in terms of its slow growth during the last decade. Since the beginning of this century, efforts have been made to improve the epidemiological registration system. An important number of probability studies involving multiple geographic locations in Mexico and larger numbers of high-risk vulnerable populations have also been carried out, while continuing surveillance of volunteers for HIV testing.

C-C chemokine receptor 2 (CCR2) regulates the hepatic recruitment of myeloid cells that promote obesity-induced hepatic steatosis.

Objective: Obesity induces a program of systemic inflammation that is implicated in the development of many of its clinical sequelae. Hepatic inflammation is a feature of obesity-induced liver disease, and our previous studies demonstrated reduced hepatic steatosis in obese mice deficient in the C-C chemokine receptor 2 (CCR2) that regulates myeloid cell recruitment. This suggests that a myeloid cell population is recruited to the liver in obesity and contributes to nonalcoholic fatty liver disease.

PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.

Objective: Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a central player in the regulation of cholesterol homeostasis, increasing the low-density lipoprotein (LDL) receptor degradation. Our study aimed at exploring the pathogenic consequences in vivo and in vitro of a PCSK9 prodomain mutation found in a family with hypobetalipoproteinemia (FHBL).

Methods And Results: A white 49-year-old diabetic man had profound FBHL (LDLC: 16 mg/dL) whereas his daughter and sister displayed a milder phenotype (LDLC 44 mg/dL and 57 mg/dL, respectively), all otherwise healthy with a normal liver function.

A life course approach to patterns and trends in modern Latin American sexual behavior.

This article explores trends in sexual behavior in Latin America, envisaged from a life-course perspective, taking into account social differences. It is focused on three main issues: the timing of early sexual and reproductive events, sexual activity during adulthood, and measurement of homosexuality-bisexuality. It draws on general population data from nonspecific surveys, as surveys dealing specifically with sexual behavior are scarce in Latin American countries.

Hypertriglyceridaemic insulin-resistant obese dog model: effects of high-fat diet depending on age.

In humans, obesity is closely associated with insulin resistance (IR) and dyslipidaemia. The purpose of this study was to explore the effect of age on metabolic disturbances related to obesity in dogs (n = 25). Three age-groups of dogs (puppies, young adults and mature adults) were overfed to induce obesity, and body composition, insulin sensitivity index (I(IS)) (euglycaemic-hyperinsulinaemic glucose clamp) and plasma lipids were measured.

Inhibition of apolipoprotein B100 secretion by lipid-induced hepatic endoplasmic reticulum stress in rodents.

ER stress can cause hepatic insulin resistance and steatosis. Increased VLDL secretion could protect the liver from ER stress-induced steatosis, but the effect of lipid-induced ER stress on the secretion of VLDL is unknown. To determine the effect of lipids on hepatic ER stress and VLDL secretion, we treated McA-RH7777 liver cells with free fatty acids.

The effects of obesity-associated insulin resistance on mRNA expression of peroxisome proliferator-activated receptor-gamma target genes, in dogs.

Visceral adipose tissue and skeletal muscle have central roles in determining whole-body insulin sensitivity. The peroxisome proliferator-activated receptor-gamma (PPARgamma) is a potential mediator of insulin sensitivity. It can directly modulate the expression of genes that are involved in glucose and lipid metabolism, including GLUT4, lipoprotein lipase (LPL) and adipocytokines (leptin and adiponectin).

Estimated numbers of men and women infected with HIV/AIDS in Tijuana, Mexico.

Tijuana, Mexico, just south of San Diego, California, is located by the busiest land border crossing in the world. Although UNAIDS considers Mexico to be a country of "low prevalence, high risk," recent surveillance data among sentinel populations in Tijuana suggests HIV prevalence is increasing. The aim of this study was to estimate the number of men and women aged 15 to 49 years infected with HIV in Tijuana.

HIV prevalence and correlates of receptive needle sharing among injection drug users in the Mexican-U.s. border city of Tijuana.

Injection drug use is a growing but understudied problem in Tijuana, a city situated on the northwestern Mexico-U.S border. The authors studied factors associated with receptive needle sharing in an effort to inform prevention activities.

Sexual behavior and herpes simplex virus 2 infection in college students.

Background: Given the relevance of HSV-2 infection in youth, the aim of this study was to determine the seroprevalence of HSV-2 in college students in Cuernavaca, Mexico, as well as the sociodemographic and sexual behavioral characteristics associated with this infection.

Methods: A cross-sectional study was carried out using convenience sampling with consenting students of both genders. Students answered a questionnaire and provided a blood sample to detect antibodies to HSV-2 by Western blot.

Migration and AIDS in Mexico: an overview based on recent evidence.

Objectives: Provide an overview of the relation between migration to the United States and AIDS cases in Mexico. Characterize the sexual behaviors of Mexican migrants. Describe HIV/AIDS prevention and clinical attention actions developed.

Insulin resistance and changes in plasma concentration of TNFalpha, IGF1, and NEFA in dogs during weight gain and obesity.

Obesity-induced insulin resistance (IR) is a common problem in humans as well as domestic dogs. It is well-known that this syndrome is associated with many modifications but it is still unclear if the changes are alterations or adaptations. The purpose of this study was to develop obesity-induced IR in dogs, through a long-term overfeeding period, and to explore hormonal and metabolic disturbances associated with the development of this syndrome.

[Use of condoms among Mexican adolescents for the prevention of sexually transmitted diseases].

Objective: To investigate the current sexual behavior and condom use during the first sexual intercourse among adolescents, as well as variations and factors influencing condom use at first sexual intercourse.

Material And Methods: The data source for this study was Mexico's National Health Survey 2000. Study subjects were male and female adolescents aged 12 to 19 years (n = 16,258).

An insulin-resistant hypertriglyceridaemic normotensive obese dog model: assessment of insulin resistance by the euglycaemic hyperinsulinaemic clamp in combination with the stable isotope technique.

Many studies have shown that in humans insulin resistance (IR) is associated with obesity and hypertriglyceridaemia. The aim of our study was to develop slowly dietary-induced obesity in dogs through long-term overfeeding of a high-fat diet, and to characterize this IR, hypertriglyceridaemic and normotensive model. Insulin resistance was assessed by the euglycaemic hyperinsulinaemic clamp technique.