MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.

A valuable approach to understand how individual and population genetic differences can predispose to disease is to assess the impact of genetic variants on cellular functions (e.g., gene expression) of cell and tissue types related to pathological states.

Pathogenesis, Clinical Features and Treatment of Diabetic Cardiomyopathy.

Patients with type 1 and type 2 diabetes mellitus (T1D and T2D) show an increased incidence of heart failure (HF) even after adjustment for well established risk factors for HF such as hypertension and ischaemic heart disease. The resulting specific form of cardiomyopathy is known as diabetic cardiomyopathy" (DCM). Pathogenetic mechanisms underlying DCM are likely to be multifactorial, from altered myocardial metabolism (hyperglycaemia, hyperinsulinaemia, increased circulating fatty acids and trglycerides) to microvascular disease, autonomic neuropathy, and altered myocardial structure with fibrosis.

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (PCM-EVW-ES) that resulted in the largest prospective cohort study of patients with all types of von Willebrand disease. Molecular analysis of relevant regions of the , including intronic and promoter regions, was achieved in the 556 individuals recruited the development of a simple, innovative, relatively low-cost protocol based on microfluidic technology and next-generation sequencing.

Efficacy of Facilitated Capacity Building in Providing Cleft Lip and Palate Care in Low- and Middle-Income Countries.

Providing surgical repair for congenital anomalies such as cleft lip and palate (CLP) can be challenging in low- and middle-income countries. One nonprofit organization seeks to address this need through a partnership model. This model provides long-term aid on multiple levels: surgeon and healthcare provider education, community outreach, and funding.

Calcium Phosphate Product Is Associated with Subclinical Carotid Atherosclerosis in Type 2 Diabetes.

Aims: To assess whether circulating 25-hydroxyvitamin D (25OHD) and mineral metabolism-related factors (serum phosphate, calcium, and parathormone) are associated with subclinical carotid atherosclerosis (SCA), defined as the presence of carotid atherosclerotic plaques (main study outcome), in patients with type 2 diabetes mellitus (T2DM) without kidney disease or previous cardiovascular disease.

Methods: We undertook a post hoc analysis of a cross-sectional study in adults with T2DM in whom we evaluated SCA. A total of 303 subjects with T2DM were included.

Student Organizations as Avenues for Leader Learning and Development.

This chapter describes theory and research demonstrating that the experiences students have within student organizations, and the people with whom they interact within those organizations, are powerful triggers for leader learning and development.

Functional Reconstruction of Temporomandibular Joint after Resection of Pigmented Villonodular Synovitis with Extension to Infratemporal Fossa and Skull Base: A Case Report.

 Pigmented villonodular synovitis (PVNS) is a benign but aggressive lesion arising from sinovia. The temporomandibular joint (TMJ) is hardly ever involved.  We describe a case of PVNS arising in the left TMJ involving infratemporal fossa soft tissue and the skull base; we also present the reconstruction.

Preclinical carotid atherosclerosis in patients with latent autoimmune diabetes in adults (LADA), type 2 diabetes and classical type 1 diabetes.

Background: LADA is probably the most prevalent form of autoimmune diabetes. Nevertheless, there are few data about cardiovascular disease in this group of patients. The aim of this study was to investigate the frequency of carotid atherosclerotic plaques in patients with LADA as compared with patients with classic type 1 diabetes and type 2 diabetes.

Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.

Background: Naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental alterations and multiple basal cell carcinomas. Mutations in PTCH1, which encodes a membrane receptor for Sonic Hedgehog, are associated with the development of the disease. Most of them produce a truncated protein, which is unable to suppress Smoothened protein and continuously activates the downstream pathway.

Surgery in Brazilian Health Care: funding and physician distribution.

Objective: to analyze demographic Brazilian medical data from the national public healthcare system (SUS), which provides free universal health coverage for the entire population, and discuss the problems revealed, with particular focus on surgical care.

Methods: data was obtained from public healthcare databases including the Medical Demography, the Brazilian Federal Council of Medicine, the Brazilian Institute of Geography and Statistics, and the National Database of Healthcare Establishments. Density and distribution of the medical workforce and healthcare facilities were calculated, and the geographic regions were analyzed using the public private inequality index.

Drones at the service for training on mass casualty incident: A simulation study.

Mass casualty incidents (MCI) are characterized by a large number of victims with respect to the resources available. In this study, we aimed to analyze the changes produced in the self-perception of students who were able to visualize aerial views of a simulation of a MCI. A simulation study, mixed method, was performed to compare the results from an ad hoc questionnaire.

Oral motor and electromyographic characterization of adults with facial fractures: a comparison between different fracture severities.

Objectives:: To characterize the oral motor system of adults with facial injuries and to compare the oral motor performance/function between two different groups.

Methods:: An observational, descriptive, cross-sectional study was conducted in 38 patients presenting with facial trauma who were assigned to the Division of Orofacial Myology of a Brazilian School Hospital. Patients were divided into two groups: Group 1 (G1) consisted of 19 patients who were submitted to open reduction of at least one facial fracture, and Group 2 (G2) consisted of 19 individuals who were submitted to closed fracture reduction with maxillomandibular fixation.

Assessing the Brazilian surgical system with six surgical indicators: a descriptive and modelling study.

Background: Brazil boasts a health scheme that aspires to provide universal coverage, but its surgical system has rarely been analysed. In an effort to strengthen surgical systems worldwide, the Lancet Commission on Global Surgery proposed a collection of 6 standardised indicators: 2-hour access to surgery, surgical workforce density, surgical volume, perioperative mortality rate (POMR) and protection against impoverishing and catastrophic expenditure. This study aims to characterise the Brazilian surgical health system with these newly devised indicators while gaining understanding on the complexity of the indicators themselves.

Disclosing a disability: Do strategy type and onset controllability make a difference?

In hiring contexts, individuals with concealable disabilities make decisions about how they should disclose their disability to overcome observers' biases. Previous research has investigated the effectiveness of binary disclosure decisions-that is, to disclose or conceal a disability-but we know little about how, why, or under what conditions different types of disclosure strategies impact observers' hiring intentions. In this article, we examine disability onset controllability (i.

The state of the surgical workforce in Brazil.

Background: A critical insufficiency of surgeons, anesthesiologists, and obstetricians exists around the world, leaving billions of people without access to safe operative care. The distribution of the surgical workforce in Brazil, however, is poorly described and rarely assessed. Though the surgical workforce is only one element in the surgical system, this study aimed to map and characterize the distribution of the surgical workforce in Brazil in order to stimulate discussion on future surgical policy reforms.

Effectiveness of tranexamic acid for reducing intraoperative bleeding in palatoplasties: A randomized clinical trial.

Background: Few data are available regarding blood loss during cleft palate surgery. This study assessed the effect of using tranexamic acid in the reduction of intraoperative bleeding.

Methods: A double-blind, randomized clinical trial compared intraoperative bleeding and the incidence of oronasal fistulas after palatoplasties in a control group that was given placebo and an intervention group that was given 10 mg/kg tranexamic acid followed by a continuous infusion of 1 mg/kg/h of the same until the end of surgery.

Clinical and Genetic Advances in Paget's Disease of Bone: a Review.

Paget's disease of bone (PDB) is the second most common metabolic bone disorder, after osteoporosis. It is characterised by focal areas of increased and disorganised bone turnover, coupled with increased bone formation. This disease usually appears in the late stages of life, being slightly more frequent in men than in women.

A non-canonical mismatch repair pathway in prokaryotes.

Mismatch repair (MMR) is a near ubiquitous pathway, essential for the maintenance of genome stability. Members of the MutS and MutL protein families perform key steps in mismatch correction. Despite the major importance of this repair pathway, MutS-MutL are absent in almost all Actinobacteria and many Archaea.

Activity of ceftazidime-avibactam against multidrug-resistance Enterobacteriaceae expressing combined mechanisms of resistance.

Introduction: Antimicrobial resistance in Enterobacteriaceae is increasing worldwide and is making treating infections caused by multidrug-resistant Enterobacteriaceae a challenge. The use of β-lactam agents is compromised by microorganisms harboring extended-spectrum β-lactamases (ESBLs) and other mechanisms of resistance. Avibactam is a non β-lactam agent that inhibits clinically relevant β-lactamases, such as ESBL and AmpC.

Impact of diabetes on the predictive value of heart failure biomarkers.

Background: Patients with diabetes mellitus (DM) have an increased risk of developing heart failure (HF). Further, DM is associated with poor prognosis in patients with HF. Our aim was to determine whether DM has any impact on the predictive value of a multi-biomarker panel in patients with HF.

Barriers to Cleft Lip and Palate Repair Around the World.

Background: Cleft lip and/or palate (CLP) is estimated to occur in 1 out of every 700 births, but for many people residing in low- and middle-income countries this deformity may be repaired late in life or not at all. This study aims to analyze worldwide provider-perceived barriers to the surgical repair of CLP in low- and middle-income countries.

Methods: From 2011 to 2014, Smile Train distributed a multiple-choice, voluntary survey to healthcare providers to identify areas of need in CLP care worldwide.

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.

P450 oxidoreductase deficiency (PORD) is a variant of congenital adrenal hyperplasia that is caused by POR gene mutations. The POR gene encodes a flavor protein that transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 type II (including 21-hydroxylase, 17α-hydroxylase 17,20 lyase and aromatase), which is fundamental for their enzymatic activity. POR mutations cause variable impairments in steroidogenic enzyme activities that result in wide phenotypic variability ranging from 46,XX or 46,XY disorders of sexual differentiation, glucocorticoid deficiency, with or without skeletal malformations similar to Antley-Bixler syndrome to asymptomatic newborns diagnosed during neonatal screening test.

Bloodstream infections caused by Escherichia coli producing AmpC β-lactamases: epidemiology and clinical features.

The aim of the study was to investigate the epidemiology and clinical features of bloodstream infections due to Escherichia coli producing AmpC β-lactamases (AmpC-Ec-BSI). In a multi-centre case-control study, all third-generation-cephalosporin-resistant Escherichia coli BSI (3GC-Ec-BSI) isolates were analysed. Acquired bla (bla ) detection was done by polymerase chain reaction (PCR) and sequencing.