bru-3

Steinert disease, or myotonic dystrophy type 1 (DM1), is a multisystemic disorder caused by toxic noncoding CUG repeat transcripts, leading to altered levels of two RNA binding factors, MBNL1 and CELF1. The contribution of CELF1 to DM1 phenotypes is controversial. Here, we show that the Drosophila CELF1 family member, Bru - 3, contributes to pathogenic muscle defects observed in a Drosophila model of DM1. Bru-3 displays predominantly cytoplasmic expression in muscles and its muscle-specific overexpression causes a range of phenotypes also observed in the fly DM1 model, including affected motility, fiber splitting, reduced myofiber length and altered myoblast fusion...

BACKGROUND AND AIMS: Ex vivo-generated autologous tolerogenic dendritic cells [tolDCs] can restore immune tolerance in experimental colitis. The aim of this study was to determine the safety and tolerability of administration of autologous tolDCs in refractory Crohn's disease [CD] patients. METHODS: A phase-I, single-centre, sequential-cohorts, dose-range study was designed. Stable tolDCs were generated ex vivo from monocytes following a previously developed protocol, and administered by sonography-guided intraperitoneal injection...

Nonsense mutations are quite prevalent in inherited diseases. Readthrough drugs could provide a therapeutic option for any disease caused by this type of mutation. Geneticin (G418) and gentamicin were among the first to be described. Novel compounds have been generated, but only a few have shown improved results. PTC124 is the only compound to have reached clinical trials. Here we first investigated the readthrough effects of gentamicin on fibroblasts from one patient with Sanfilippo B, one with Sanfilippo C, and one with Maroteaux-Lamy...

Injection site reactions (ISRs) are quite common side effects defined by a local adverse drug reaction directly caused by a vaccine. Twenty-four hours after an intramuscular injection (in the deltoid muscle) of the diphtheria, tetanus, acellular pertussis, inactivated poliomyelitis, Haemophilus influenza type b (DTPCa-Hib) combined vaccine, a 3-year-old boy developed fever. A few hours later, local redness and swelling appeared at the injection site, with rapid extension to the entire limb, it was pain-free, and no other clinical anomalies were present...

Attention deficit is one of the core symptoms of the attention-deficit/hyperactivity disorder (ADHD). However, the specific genetic variants that may be associated with attention function in adult ADHD remain largely unknown. The present study aimed to identifying SNPs associated with attention function in adult ADHD and tested whether these associations were enriched for specific biological pathways. Commissions, hit-reaction time (HRT), the standard error of HRT (HRTSE), and intraindividual coefficient variability (ICV) of the Conners Continuous Performance Test (CPT-II) were assessed in 479 unmedicated adult ADHD individuals...

BACKGROUND: Pylephlebitis or septic thrombophlebitis of the portal venous system is a rare but serious complication of intra-abdominal infections which drain into the portal venous system. Its diagnosis is based on clinical suspicion and imaging tests, mainly a computed tomography scan, given the lack of specificity of the signs and symptoms. Spread of septic emboli is the major cause of morbidity and mortality. The aim of the study was to analyse patients diagnosed in our hospital. MATERIAL AND METHODS: Retrospective descriptive study of patients diagnosed with pylephlebitis in our hospital...

BACKGROUND: Differentiated thyroid carcinoma (DTC) is associated with an increased mortality. Few studies have constructed predictive models of all-cause mortality with a high discriminating power for patients with this disease that would enable us to determine which patients are more likely to die. OBJECTIVE: To construct a predictive model of all-cause mortality at 5, 10, 15 and 20 years for patients diagnosed with and treated surgically for DTC for use as a mobile application...

PURPOSE: The aim of this study was to determine and compare the correlates of objective sedentary behavior (SB) and nonschool self-reported SB in adolescents from 2 midsized cities, 1 in France (Tarbes) and 1 in Spain (Huesca). Stability of objective SB and nonschool self-reported SB were also assessed at different time points during 1 academic year. METHOD: Starting with a total of 829 participants and after applying inclusion criteria, objective SB was assessed for 646 adolescents (Mage = 14...

BACKGROUND: Obesity represents an important health problem and its association with cardiovascular risk factors is well-known. The aim of this work was to assess the correlation between obesity and mortality (both, all-cause mortality and the combined variable of all-cause mortality plus the appearance of a non-fatal first cardiovascular event) in a general population sample from the south-east of Spain. MATERIALS AND METHODS: This prospective cohort study used stratified and randomized two-stage sampling...

OBJECTIVES: Although previous studies have assessed nonadherence to guidelines for prescribing antibiotic therapy in patients with pharyngotonsillitis (prescription of another antibiotic rather than one of first choice: amoxicillin and/or penicillin V, except in the case of penicillin allergy), none analyzed associated factors. Consequently, we conducted a study to assess the possible factors associated with the problem of nonadherence. METHODS: This cross-sectional study analyzed a sample of 417 patients with tonsillitis or pharyngotonsillitis treated with antibiotics during February 2014 in a Spanish region...

We did not find any paper that assessed clinical inertia in obese patients. Therefore, no paper has compared the clinical inertia rates between morbidly and nonmorbidly obese patients. A cross-sectional observational study was carried out. We analysed 8687 obese patients ⩾40 years of age who attended their health-care center for a checkup as part of a preventive program. The outcome was morbid obesity. Secondary variables were as follows: failure in the management of high blood pressure (HBP), high blood cholesterol (HBC) and high fasting blood glucose (HFBG); gender; personal history of hypertension, dyslipidemia, diabetes, smoking and cardiovascular disease; and age (years)...

OBJECTIVE: To determine the effectiveness of active stretching (AS) versus AS plus electrical stimulation (stretching + TENS) in young soccer players with the short hamstring syndrome (SHS). DESIGN: Randomized, controlled, single-blind parallel clinical trial with 3 arms and a 2-month follow-up. The assignment ratio was 1:1:1. SETTING: The study involved young federated soccer players in the town of Jumilla, in the region of Murcia (Spain), who were controlled in a physiotherapy office in 2012...

UNLABELLED: Alcoholic hepatitis (AH) frequently progresses to multiple organ failure (MOF) and death. However, the driving factors are largely unknown. At admission, patients with AH often show criteria of systemic inflammatory response syndrome (SIRS) even in the absence of an infection. We hypothesize that the presence of SIRS may predispose to MOF and death. To test this hypothesis, we studied a cohort including 162 patients with biopsy-proven AH. The presence of SIRS and infections was assessed in all patients, and multivariate analyses identified variables independently associated with MOF and 90-day mortality...

BACKGROUND: Melitococcosis is one of the most widespread zoonoses worldwide. In the period from 2009 to 2013, comprehensive melitococcosis testing was conducted in the Republic of Croatia. METHODS AND RESULTS: During the testing, the Rose Bengal test was applied to 344019 blood samples of sheep and goats, and positive reactions were confirmed in 1143 (0.3%) of samples. The complement fixation test (confirmatory test) was conducted on 43428 samples, with positive reactions confirmed in 768 (1...

BACKGROUND: Duration of treatment for patients with vertebral osteomyelitis is mainly based on expert recommendation rather than evidence. We aimed to establish whether 6 weeks of antibiotic treatment is non-inferior to 12 weeks in patients with pyogenic vertebral osteomyelitis. METHODS: In this open-label, non-inferiority, randomised controlled trial, we enrolled patients aged 18 years or older with microbiologically confirmed pyogenic vertebral osteomyelitis and typical radiological features from 71 medical care centres across France...

BACKGROUND: The use of expanded criteria for donors to expand the donor pool has increased the number of discarded liver grafts in situ. The aim of our study was to elaborate a prediction model to reduce the percentage of liver grafts discarded before the procuring team is sent out. METHODS: We analyzed the donor factors of 244 evaluated candidates for liver donation. We performed a multiple logistic regression to evaluate the probability of liver grafts discarded (PD)...

Drought stress conditions modify source-sink relations, thereby influencing plant growth, adaptive responses, and consequently crop yield. Invertases are key metabolic enzymes regulating sink activity through the hydrolytic cleavage of sucrose into hexose monomers, thus playing a crucial role in plant growth and development. However, the physiological role of invertases during adaptation to abiotic stress conditions is not yet fully understood. Here it is shown that plant adaptation to drought stress can be markedly improved in tomato (Solanum lycopersicum L...

Frustration represents a particular aspect of the addictive process that is related to loss of control when the expected reward is not obtained. We aim to study the consequences of frustrated expected reward on gene expression in the mouse brain. For this purpose, we used an operant model of frustration using palatable food as reward combined with microarrays. Transcriptomic profiles of frontal cortex, ventral striatum and hippocampus were analysed in five groups of mice: (1) positive control receiving palatable food and the cue light as conditioned stimulus; (2) frustrated group only receiving the cue light; (3) extinction learning group that did not receive palatable food nor the light; (4) negative control that never received the reinforcer nor the light during the whole experiment; and (5) yoked that received palatable food passively...

BACKGROUND: The role of implantable loop recorders (ILRs) in the evaluation strategy for recurrent syncope in France is limited by lack of knowledge of the cost. AIM: To compare a conventional evaluation strategy for syncope with the early use of an ILR in low-risk patients, in terms of diagnostic yield, cost and impact on quality of life (QoL). METHODS: National prospective randomized open-label multicenter study of patients with a single syncope (if severe and recent) or at least two syncopes in the past year...

BACKGROUND: Arterial hypotension is the most frequent adverse effect of subarachnoid anaesthesia in the elderly sustaining a femoral proximal fracture. Decreasing the local anaesthetic dose reduces the incidence of hypotension but shortens sensory block duration that could be insufficient in some surgical procedures. Sensory block duration could be prolonged using hypobaric local anaesthetics. We evaluated whether low hypobaric bupivacaine doses were adequate for this type of surgery while maintaining the haemodynamic stability...