bluuebunny/crossref_metadata_2025_split huggingface dataset:
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations
Authors: Chen Wei , Zhang Youqiao , Ni Yifeng , Cai Shaoyu , Zheng Xin , Mastaglia Frank L. , Wu Jingshan 
Published: December 2019

Abstract
Background
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a riboflavin-responsive lipid-storage myopathy caused by mutations in the EFTA, EFTB or ETFDH genes. We report a Chinese family of Southern Min origin with two affected siblings with late-onset riboflavin-responsive MADD due to a homozygous c.250G > A EFTDH mutation and review the genetic epidemiology of the c.250G > A mutation.

Case presentation
Both siblings presented with exercise-induced myalgia, progressive proximal muscle weakness and high levels of serum muscle enzymes and were initially diagnosed as polymyositis after a muscle biopsy. A repeat biopsy in one sibling subsequently showed features of lipid storage myopathy and genetic analysis identified a homozygous mutation (c.250G > A) in the ETFDH gene in both siblings and carriage of the same mutation by both parents. Glucocorticoid therapy led to improvement in muscle enzyme levels, but little change in muscle symptoms, and only after treatment with riboflavin was there marked improvement in exercise tolerance and muscle strength. The frequency and geographic distribution of the c.250G > A mutation were determined from a literature search for all previously reported cases of MADD with documented mutations. Our study found the c.250G > A mutation is the most common EFTDH mutation in riboflavin-responsive MADD (RR-MADD) and is most prevalent in China and South-East Asia where its epidemiology correlates with the distribution and migration patterns of the southern Min population in Southern China and neighbouring countries.

Conclusions
Mutations in ETFDH should be screened for in individuals with lipid-storage myopathy to identify patients who are responsive to riboflavin. The c.250G > A mutation should be suspected particularly in individuals of southern Min Chinese background.
Nutrient intakes and sources of fiber among children with low and high dietary fiber intake: the 2016 feeding infants and toddlers study (FITS), a cross-sectional survey
Authors: Finn Kristen , Jacquier Emma , Kineman Brian , Storm Heidi , Carvalho Ryan 
Published: December 2019

AbstractBackgroundIncreasing dietary fiber intake in children may improve overall diet quality. The purpose of this study was to compare nutrient intakes and sources of fiber between young children with low and high fiber intakes utilizing data from the Feeding Infants and Toddlers Study (FITS) 2016.MethodsThe FITS 2016 was a nationwide, cross sectional survey of caregivers designed to assess food and nutrient intakes, feeding behaviors, and dietary patterns among infants and young children living in the U.S. Energy adjusted macro and micronutrient intakes (nutrients/1000 kcals) of children with energy adjusted fiber intakes (g/1000 kcals) in the highest quartile were compared to those in the lowest quartile with paired t-tests. Sources of fiber for each quartile were ranked according to percent of total fiber intake.ResultsChildren with fiber intakes in the highest quartile had significantly lower intakes of total fat (mean difference ranged from 7.4–9.6 g,p < 0.0005) and saturated fat (mean difference ranged from 4 to 5.8 g,p < 0.0005), and significantly higher intakes of vitamin B-6 (mean difference ranged from 0.3–0.4 mg,p < 0.0005), magnesium (mean difference ranged from 57.2–61.8 mg,p < 0.0005), iron (mean difference ranged from 2.2–3.7 mg,p < 0.0005), and potassium (mean difference ranged from 318.2 mg to 446.1 mg,p < 0.0005) compared to children in the lowest quartile across all age groups. Children in the highest quartile had higher intakes of nut butters, legumes, fruits, and vegetables and consumed a greater percentage of grains as whole grains than those in the lowest quartile.ConclusionEncouraging intake of fruits, vegetables, legumes, nut butters, and at least 75% of grains as whole grains may help young children improve dietary fiber intake and overall diet quality.
Efficacy of a group tobacco cessation behavioral intervention among tobacco users with concomitant mental illness in Kenya: protocol for a controlled clinical trial
Authors: Olando Yvonne , Kuria Mary , Mathai Muthoni , Huffman Mark D. 
Published: December 2019

Abstract
Background
The rate of tobacco use among people with mental illness is nearly twice that of the general population. Psychotropic medications for tobacco cessation are relatively expensive for most Kenyans. Behavioral counseling and group therapy are effective lower cost strategies to promote tobacco cessation, yet have not been studied in Kenya among individuals with concomitant mental illness.

Methods/design
One hundred tobacco users with mental illness who were part of an outpatient mental health program in Nairobi, Kenya were recruited and allocated into intervention and control groups of the study (50 users in intervention group and 50 users in control group). Participants allocated to the intervention group were invited to participate in 1 of 5 tobacco cessation groups. The intervention group received the 5As (Ask, Advise, Assess, Assist and Arrange) and tobacco cessation group behavioral intervention, which included strategies to manage cravings and withdrawal, stress and anxiety, and coping with depression due to withdrawal; assertiveness training and anger management; reasons to quit, benefits of quitting and different ways of quitting. Individuals allocated to the control group received usual care. The primary outcome was tobacco cessation at 24 weeks, measured through cotinine strips. Secondary outcomes included number of quit attempts and health-related quality of life.

Discussion
This study will provide evidence to evaluate the efficacy and safety of a tobacco cessation group behavioral intervention among individuals with mental illness in Kenya, and to inform national and regional practice and policy.

Trial registration
Trial registration number: NCT04013724.
Name of registry: ClinicalTrials.gov.
URL of registry: https://register.clinicaltrials.gov
Date of registration: 9 July 2019 (retrospectively registered).
Date of enrolment of the first participant to the trial: 5th September 2017.
Protocol version: 2.0.
Pharmacy-based interventions to increase vaccine uptake: report of a multidisciplinary stakeholders meeting
Authors: Ecarnot Fiona , Crepaldi Gaetano , Juvin Philippe , Grabenstein John , Del Giudice Giuseppe , Tan Litjen , O’Dwyer Susan , Esposito Susanna , Bosch Xavier , Gavazzi Gaetan , Papastergiou John , Gaillat Jacques , Johnson Robert , Fonzo Marco , Rossanese Andrea , Suitner Caterina , Barratt Jane , di Pasquale Alberta , Maggi Stefania , Michel Jean-Pierre 
Published: December 2019

Abstract
Background
Despite the existence of efficacious vaccines, the burden of vaccine-preventable diseases remains high and the potential health benefits of paediatric, adolescent and adult vaccination are not being achieved due to suboptimal vaccine coverage rates.

Main body of abstract
Based on emerging evidence that pharmacy-based vaccine interventions are feasible and effective, the European Interdisciplinary Council for Ageing (EICA) brought together stakeholders from the medical and pharmacy professions, the pharmaceutical industry, patient/ageing organisations and health authorities to consider the potential for pharmacy-based interventions to increase vaccine uptake. We report here the proceedings of this 3-day meeting held in March 2018 in San Servolo island, Venice, Italy, focussing firstly on examples from countries that have introduced pharmacy-based vaccination programmes, and secondly, listing the barriers and solutions proposed by the discussion groups.

Conclusions
A range of barriers to vaccine uptake have been identified, affecting all target groups, and in various countries and healthcare settings. Ease of accessibility is a potentially modifiable determinant in vaccine uptake, and thus, improving the diversity of settings where vaccines can be provided to adults, for example by enabling community pharmacists to vaccinate, may increase the number of available opportunities for vaccination.
Morphometric traits predict educational attainment independently of socioeconomic background
Authors: Valge Markus , Meitern Richard , Hõrak Peeter 
Published: December 2019

AbstractBackgroundAim of this study is to describe the relationship between anthropometric traits and educational attainment among Estonian schoolchildren born between 1937 and 1962. We asked whether height, cranial volume and face width (a testosterone-dependent trait), measured in childhood predict later educational attainment independently of each other, family socioeconomic position (SEP) and sex. Associations between morphometric traits and education and their interactions with biosocial variables are of scholarly importance because higher education is nearly universally associated with low fertility in women, and often with high fertility in men. Hence, morphometric traits associated with educational attainment are targeted by natural selection and describing the exact nature of these associations is relevant for understanding the current patterns of evolution of human body size.MethodsData on morphometric measurements and family background of 11,032 Estonian schoolchildren measured between seven and 19 years of age were obtained from the study performed by Juhan Aul between 1956 and 1969. Ordinal logistic regression was used for testing the effects of morphometric traits, biosocial variables and their interaction on the cumulative probability of obtaining education beyond primary level.ResultsOf biosocial variables, family SEP was the most important determinant of educational attainment, followed by the sex, rural vs urban origin and the number of siblings. No significant interactions with morphometric traits were detected, i.e., within each category of SEP, rural vs urban origin and sex, taller children and those with larger heads and relatively narrower faces were more likely to proceed to secondary and/or tertiary education. The effect of height on education was independent of cranial volume, indicating that taller children did not obtain more educations because their brains were larger than those of shorter children; heightper sewas important.ConclusionsOur main finding – that adjusting for other morphometric traits and biosocial variables, morphometric traits still robustly predicted educational attainment, is relevant for understanding the current patterns of evolution of human body size. Our findings suggest that fecundity selection acting on educational attainment could be partly responsible for the concurrent selection for smaller stature and cranial volume in women and opposite trends in men.
Remote assessment via video evaluation (RAVVE): a pilot study to trial video-enabled peer feedback on clinical performance
Authors: Ho Kendall , Yao Christopher , Novak Lauscher Helen , Koehler Barry E. , Shojania Kamran , Jamal Shahin , Collins David , Kherani Raheem , Meneilly Graydon , Eva Kevin 
Published: December 2019

Abstract
Background
Video review processes for evaluation and coaching are often incorporated into medical education as a means to accurately capture physician-patient interactions. Compared to direct observation they offer the advantage of overcoming many logistical challenges. However, the suitability and viability of using video-based peer consultations for professional development requires further investigation. This study aims to explore the acceptability and feasibility of video-based peer feedback to support professional development and quality improvement in patient care.

Methods
Five rheumatologists each provided four videos of patient consultations. Peers evaluated the videos using five-point scales, providing annotations in the video recordings, and offering recommendations. The rheumatologists reviewed the videos of their own four patient interactions along with the feedback. They were asked to document if they would make practice changes based on the feedback. Focus groups were conducted and analysed to explore the effectiveness of video-based peer feedback in assisting physicians to improve clinical practice.

Results
Participants felt the video-based feedback provided accurate and detailed information in a more convenient, less intrusive manner than direct observation. Observations made through video review enabled participants to evaluate more detailed information than a chart review alone. Participants believed that reviewing recorded consultations allowed them to reflect on their practice and gain insight into alternative communication methods.

Conclusions
Video-based peer feedback and self-review of clinical performance is an acceptable and pragmatic approach to support professional development and improve clinical care among peer clinicians. Further investigation into the effectiveness of this approach is needed.
Genotypic characterization and antimicrobial resistance profile of Salmonella isolated from chicken, pork and the environment at abattoirs and supermarkets in Chongqing, China
Authors: Chen Tingting , Jiang Jiali , Ye Chao , Xie Jianhua , Chen Xia , Xu Dongyi , Zeng Zheng , Peng Yuanyi , Hu Dong-Liang , Fang Rendong 
Published: December 2019

Abstract
Background
Salmonella is one of the most important foodborne pathogens, causing outbreaks of human salmonellosis worldwide. Owing to large scales of consumption markets, pork and poultry that contaminated by Salmonella could pose a tremendous threat to public health. The aim of this study was to investigate the contamination of Salmonella from chicken, pork and the environment in slaughtering and retail processes in Chongqing, China.

Results
A total of 115 Salmonella isolates were recovered from 1112 samples collected from pork, chicken and the environment. Compared with the isolation rate of samples from chicken (9.50%) and the environment (6.23%), samples from pork had a significant higher isolation rate (44.00%). The isolation rates in slaughterhouses (10.76%) and in supermarkets (10.07%) showed no statistical difference. Thirty different serotypes were identified among all the isolates. S. Derby (n = 26), S. London (n = 16) and S. Rissen (n = 12) were the dominant serotypes. Antimicrobial susceptibility testing revealed that 73.04% isolates were resistant to tetracycline, followed by 66.96% to ampicillin and 59.13% to doxycycline. More than half (50.43%) of the isolates were multidrug resistant (MDR), and most of the MDR isolates were from supermarkets. Multilocus sequence typing results showed 24 out of 115 isolates were ST40, which was the most prevalent. Furthermore, isolates from supermarkets had 20 different sequence types while isolates from slaughterhouses only had 8 different sequence types.

Conclusion
Our study highlighted that Salmonella was more frequently isolated in pork production chain than that in chicken. Compared with isolates from slaughterhouses, isolates from supermarkets had more MDR profiles and represented a wider range of serotypes and sequence types, indicating that the retail process had more diverse sources of Salmonella contamination than that of slaughtering process.
Identification of the complete coding cDNAs and expression analysis of B4GALT1, LALBA, ST3GAL5, ST6GAL1 in the colostrum and milk of the Garganica and Maltese goat breeds to reveal possible implications for oligosaccharide biosynthesis
Authors: Crisà Alessandra , Claps Salvatore , Moioli Bianca , Marchitelli Cinzia 
Published: December 2019

Abstract
Background
Milk sialylated oligosaccharides (SOS) play crucial roles in many biological processes. The most abundant free SOS in goat’s milk are 3’sialyllactose (3′-SL), 6’sialyllactose (6′-SL) and disialyllactose (DSL). The production of these molecules is determined genetically by the expression of glycosyltransferases and by the availability of nucleotide sugar substrates, but the precise mechanisms regulating the differential patterns of milk oligosaccharides are not known. We aimed to identify the complete cDNAs of candidate genes implicated in SOS biosynthesis (B4GALT1, LALBA, ST3GAL5, ST6GAL1) and to analyse their expression during lactation in the Garganica and Maltese goat breeds. Moreover, we analysed the colostrum and milk contents of 3′-SL, 6′-SL and disialyllactose (DSL) and the possible correlations between expressed genes and SOS.

Results
We identified the complete coding cDNAs of B4GALT1 (HQ700335.1), ST3GAL5 (KF055858.2), and ST6GAL1 (HQ709167.1), the single nucleotide polymorphism (SNPs) of these genes and 2 splicing variants of the ST6GAL1 cDNA. RT-qPCR analysis showed that LALBA and ST6GAL1 were the genes with the highest and lowest expression in both breeds, respectively. The interaction effects of the breeds and sampling times were associated with higher levels of B4GALT1 and ST3GAL5 gene expression in Garganica than in Maltese goats at kidding. B4GALT1, LALBA, and ST3GAL5 gene expression changed from kidding to 60 and 120 days in Maltese goats, while in Garganica goats, a difference was observed only for the LALBA gene. Breed and lactation effects were also found for SOS contents. Positive correlations of B4GALT1, LALBA, ST3GAL5, and ST6GAL1 with 3′-SL/6′SL and DSL were found.

Conclusions
The genetic effect on the oligosaccharide content of milk was previously highlighted in bovines, and this study is the first to investigate this effect in two goat breeds (Garganica and Maltese) during lactation. The genetic variability of candidate genes involved in SOS biosynthesis highlights their potential role in affecting gene expression and ultimately biological function. The investigation of gene regulatory regions as well as the examination of other sialyltransferase genes will be needed to identify the genetic pattern leading to a higher SOS content in the autochtonous Garganica breed and to protect it using a focused breeding strategy.
A prospective study of erectile dysfunction in men after pelvic surgical procedures and its association with non-modifiable risk factors
Authors: Artemi S. , Vassiliu P. , Arkadopoulos N. , Smyrnioti Maria-Eleni , Sarafis P. , Smyrniotis V. 
Published: December 2019

Abstract
Objective
A pelvic surgery can cause erectile dysfunction. The purpose of this study was to evaluate erectile function at various times after pelvic surgery in male patients; to search the non-modifiable risk factors associated with the presence and intensity of sexuality in these patients. This prospective study used the erectile dysfunction IIEF scale.

Results
The study population comprised of 106 male patients who had undergone minor pelvic surgery at least 9 months before and during the 2010–2016 period in the 4th Surgical Clinic. A control group of healthy males (N = 106) who underwent no pelvic surgery matched for age was also used for reference values. The main age of the participants was 66.16 ± 13.07 years old. A history of colectomy was present in 36.8%, 18.9% had undergone sigmoidectomy, and 33% inguinal hernia repair. The percentage of severe erectile function increased from 38.7% before surgery to 48.1% (25% increase) after surgery, at the end of the follow-up period (p < 0.05). In the multivariate analysis model, age emerged as an independent predictor of erectile function (p < 0.001). Age was the most important determinant of the IIEF score, which was aggravated by 25% from the first to the last assessment of patients.
A de novo transcriptome assembly for the bath sponge Spongia officinalis, adjusting for microsymbionts
Authors: Manousaki Tereza , Koutsouveli Vasiliki , Lagnel Jacques , Kollias Spyridon , Tsigenopoulos Costas S. , Arvanitidis Christos , Magoulas Antonios , Dounas Costas , Dailianis Thanos 
Published: December 2019

Abstract
Objectives
We report a transcriptome acquisition for the bath sponge Spongia officinalis, a non-model marine organism that hosts rich symbiotic microbial communities. To this end, a pipeline was developed to efficiently separate between bacterial expressed genes from those of eukaryotic origin. The transcriptome was produced to support the assessment of gene expression and, thus, the response of the sponge, to elevated temperatures, replicating conditions currently occurring in its native habitat.

Data description
We describe the assembled transcriptome along with the bioinformatic pipeline used to discriminate between signals of metazoan and prokaryotic origin. The pipeline involves standard read pre-processing steps and incorporates extra analyses to identify and filter prokaryotic reads out of the analysis. The proposed pipeline can be followed to overcome the technical RNASeq problems characteristic for symbiont-rich metazoan organisms with low or non-existent tissue differentiation, such as sponges and cnidarians. At the same time, it can be valuable towards the development of approaches for parallel transcriptomic studies of symbiotic communities and the host.
Gulf War Illness-associated increases in blood levels of interleukin 6 and C-reactive protein: biomarker evidence of inflammation
Authors: Butterick Tammy A. , Trembley Janeen H. , Hocum Stone Laura L. , Muller Clemma J. , Rudquist Rebecca R. , Bach Ronald R. 
Published: December 2019

Abstract
Objective
Gulf War Illness is a chronic multisymptom disorder severely impacting the health and well-being of many Veterans of the 1990–1991 Gulf War. Symptoms that define the disease include pain, fatigue, mood and memory impairments, gastrointestinal problems, lung disorders, and skin rashes. In our previous biomarker study, we discovered Gulf War Illness-associated proinflammatory blood biomarkers. Therefore, we hypothesized that chronic inflammation causes the symptoms that define this disorder. Testing the chronic inflammation hypothesis is the objective of this study.

Results
The biomarker fingerprint of Gulf War Illness is the end-product of a cascade of proinflammatory cytokine signals. In particular, the observed increase in C-reactive protein predicts a corresponding increase in interleukin 6, the cytokine that stimulates hepatocytes to produce C-reactive protein. Therefore, in this study we measured potential upstream cytokine signals in plasma samples from Gulf War Veterans. As predicted, a positive correlation between interleukin 6 and C-reactive protein was observed.