bluuebunny/crossref_metadata_2025_split huggingface dataset:
Disentangling the genetics of sarcopenia: prioritization of NUDT3 and KLF5 as genes for lean mass & HLA-DQB1-AS1 for hand grip strength with the associated enhancing SNPs & a scoring system
Authors: Singh Abhishek Narain , Gasman Bili 
Published: February 2020

AbstractBackgroundSarcopenia is a skeletal muscle disease of clinical importance that occurs commonly in old age and in various disease sub-categories. Widening the scope of knowledge of the genetics of muscle mass and strength is important because it may allow to identify patients with an increased risk to develop a specific musculoskeletal disease or condition such as sarcopenia based on genetic markers.MethodsWe used bioinformatics tools to identify gene loci responsible for regulating muscle strength and lean mass, which can then be a target for downstream lab experimentation validation. Single nuclear polymorphisms (SNPs) associated with various disease traits of muscles and specific genes were chosen according to their muscle phenotype associationp-value, as traditionally done in Genome Wide Association Studies, GWAS. We’ve developed and applied a combination of expression quantitative trait loci (eQTLs) and GWAS summary information, to prioritize causative SNP and point out the unique genes associated in the tissues of interest (muscle).ResultsWe foundNUDT3andKLF5for lean mass andHLA-DQB1-AS1for hand grip strength as candidate genes to target for these phenotypes. The associated regulatory SNPs are rs464553, rs1028883 and rs3129753 respectively.ConclusionTranscriptome Wide Association Studies, TWAS, approaches of combining GWAS and eQTL summary statistics proved helpful in statistically prioritizing genes and their associated SNPs for the disease phenotype of study, in this case, Sarcopenia. Potentially regulatory SNPs associated with these genes, and the genes further prioritized by a scoring system, can be then wet lab verified, depending on the phenotype it is hypothesized to affect.
Atypical presentation of acute post-infectious glomerulonephritis in patients with sickle cell disease: report of two cases
Authors: de Menezes Neves Precil Diego Miranda , Reichert Bernardo Vergara , Bridi Ramaiane Aparecida , Yu Luis , Dias Cristiane Bitencourt , Pinheiro Rafaela Brito Bezerra , de Abreu Testagrossa Leonardo , Cavalcante Lívia Barreira , Malheiros Denise Maria Avancini Costa , Jorge Lectícia Barbosa , Woronik Viktoria 
Published: February 2020

Abstract
Background
Sickle cell disease (SCD) is a highly prevalent genetic disease worldwide. In the natural evolution of SCD, glomerular lesions can develop, presenting histopathological patterns of segmental or focal membranoproliferative glomerulosclerosis, with or without thrombotic microangiopathy. We report two cases of acute post-infectious glomerulonephritis (APIGN), with atypical presentations, in patients with SCD.

Case presentation
Case 1: An 18-year-old female with SCD presented with a 21-day history of progressive oedema, accompanied by dyspnoea, productive cough, fever, and chest pain. Blood tests showed the following: haemoglobin 6.1 g/dl; leucocytes 18,820 cells/mm3; and creatinine 0.49 mg/dl. A urine sample evidenced leucocyturia and haematuria. The 24-h proteinuria was 8.99 g, serum albumin level was 1.2 g/dl, low serum C3 levels and high levels of anti-streptolysin O. Renal biopsy was consistent with APIGN. The patient was treated with diuretic and anti-proteinuric agents, subsequently evolving to reversal of the renal alterations. Case 2: A 12-year-old male with SCD presented with a 20-day history of a non-productive cough and progressive oedema, together with hypertension. The serum creatinine concentration was 0.48 mg/dl. A urine sample evidenced leukocyturia and haematuria. The 24-h proteinuria was 12.5 g, and the serum albumin level was 2.6 g/dl. The levels of C3 and C4 were normal. Renal biopsy revealed APIGN. The patient was treated with diuretic and anti-proteinuric agents, subsequently evolving reversal of the renal alterations.

Conclusions
The presentation of the two cases reported here are not typical of SCD-related kidney injury. Analysis of the renal biopsy specimens elucidated the diagnosis, affecting the prognosis, because that of APIGN is highly favourable, unlike that of nephrotic syndrome associated with SCD glomerulopathy.
Validation of the Spanish version of the migraine disability assessment questionnaire (MIDAS) in university students with migraine
Authors: Rodríguez-Almagro Daniel , Achalandabaso Alexander , Rus Alma , Obrero-Gaitán Esteban , Zagalaz-Anula Noelia , Lomas-Vega Rafael 
Published: February 2020

Abstract
Background
The Migraine Disability Assessment (MIDAS) questionnaire is widely used to determine the degree of migraine-related disability of subjects. So far, and to the best of our knowledge, no Spanish version of this tool has been validated. The questionnaire comprises seven items, with the first five constituting the main scale while the sixth and seventh items referring, respectively, to the frequency and intensity of headache. The present study aims to analyze the clinimetric properties of the Spanish version of the MIDAS questionnaire in a population of university students.

Methods
We performed a cross-sectional study of validation for this measuring instrument. A total of 153 subjects participated in the study. We analyzed construct validity using factor analysis, test-retest reliability by the Intraclass Correlation Coeficient (ICC), internal consistency, and concurrent validity with respect to the 12-Item Short Form Health Survey (SF-12).

Results
Factor analysis revealed a two-factor structure. The questionnaire has good reliability for the MIDAS main-scale score ([ICC = 0.81; 95% CI: 0.63–0.90]), excellent reliability for headache frequency (ICC = 0.90; 95%; CI: [0.79–0.95]), and moderately good reliability for headache intensity (ICC = 0.63; 95% CI: [0.34–0.80]). The analysis also yielded good internal consistency results (α Cronbach = 0.797) and a moderate correlation between MIDAS-main scale and the physical component summary of SF-12 (Rho = − 0.326; p <  0.001).

Conclusions
The Spanish version of the MIDAS questionnaire is a valid and reliable tool to measure migraine-related disability in university subjects. The two additional items provide information that could help clinicians in making decisions.
Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2
Authors: He Chenhao , Liu Xinyu , Zhong Zilin , Chen Jianjun 
Published: February 2020

Abstract
Background
Usher syndrome (USH) is the most prevalent cause of the human genetic deafness and blindness. USH type II (USH2) is the most common form of USH, and USH2A is the major pathogenic gene for USH2. For expanding the spectrum of USH2A mutations and further revealing the role of USH2A in USH2, we performed the USH2A gene variant screening in Chinese patients with USH2.

Methods
Genomic DNA was extracted from peripheral blood of unrelated Chinese USH2 patients, we designed specific primers for amplifying the coding region (exons 2–72) of the USH2A gene. Sanger sequencing was used to study alleles. Silico prediction tools were used to predict the pathogenicity of the variants identified in these patients.

Results
Five heterozygous pathogenic variants were detected in four patients. Two patients were found to have two-mutations and two patients only have one. Two novel variants c.4217C > A (p.Ser1406X) and c.11780A > G (p.Asp3927Gly)) were predicted deleterious by computer prediction algorithms. In addition, three reported mutations (c.8559-2A > G, c.8232G > C and c.11389 + 3A > T) were also found in this study.

Conclusions
We identified five heterozygous pathogenic variants in the USH2A gene in Chinese patients diagnosed with Usher syndrome type 2, two of which were not reported. It expands the spectrum of USH2A variants in USH.
Compliance to spectacle use in children with refractive errors- a systematic review and meta-analysis
Authors: Dhirar Nonita , Dudeja Sankalp , Duggal Mona , Gupta Parul Chawla , Jaiswal Nishant , Singh Meenu , Ram Jagat 
Published: February 2020

Abstract
Background
Primary objective of this review was to measure compliance with spectacle use in children with refractive errors. Secondary objective was to understand the reasons for non-compliance.

Methods
The databases searched were Ovid, EMBASE, CINAHL and Pubmed. All studies up to March, 2018 were included. The search terms were- ((((((Compliance [Title/Abstract]) OR Adherence [Title/Abstract]) OR Compliant [Title/Abstract]) OR Adherent [Title/Abstract])) AND (((Spectacle [Title/Abstract]) OR Spectacles [Title/Abstract]) OR Eye Glasses [Title/Abstract])) AND ((((Child [Title/Abstract]) OR Children [Title/Abstract]) OR Adolescent [Title/Abstract]) OR Adolescents [Title/Abstract]). Two researchers independently searched the databases and initial screening obtained 33 articles. The PRISMA guidelines were followed for conducting and writing the systematic review. Two reviewers assessed data quality independently using the Quality Assessment tool for systematic reviews of observational studies (QATSO). Poor quality studies were those, which had a score of less than 33% on the QATSO tool. Sensitivity analysis was done to determine if poor quality studies effected compliance. Galbraith plot was used to investigate statistical heterogeneity amongst studies. A random effects model was used to pool compliance.

Results
Twenty-three studies were included in the review, of which 20 were included in the quantitative analysis. All the studies were cross sectional. The overall compliance with spectacle use was 40.14% (95% CI- 32.78-47.50). The compliance varied from 9.84% (95% CI = 2.36–17.31) to 78.57% (95% CI = 68.96–88.18). The compliance derived in sensitivity analysis was 40.09%. Reasons for non-compliance were broken/lost spectacles, forgetfulness, and parental disapproval.

Conclusion
Appropriate remedial measures such as health education and strengthening vision care services will be required to address poor compliance with spectacle use among children.
Beat osteoporosis — nourish and exercise skeletons (BONES): a group randomized controlled trial in children
Authors: Economos Christina D. , Hennessy Erin , Chui Kenneth , Dwyer Johanna , Marcotte Lori , Must Aviva , Naumova Elena N. , Goldberg Jeanne 
Published: February 2020

Abstract
Background
Lifelong healthy habits developed during childhood may prevent chronic diseases in adulthood. Interventions to promote these habits must begin early. The BONES (Beat Osteoporosis – Nourish and Exercise Skeletons) project assessed whether early elementary school children participating in a multifaceted health behavior change, after-school based intervention would improve bone quality and muscular strength and engage in more bone-strengthening behaviors.

Methods
The 2-year BONES (B) intervention included bone-strengthening physical activity (85 min/week), educational materials (2 days/week), and daily calcium-rich snacks (380 mg calcium/day) delivered by after-school program leaders. BONES plus Parent (B + P) included an additional parent education component. From 1999 to 2004, n = 83 after-school programs (N = 1434 children aged 6–9 years) in Massachusetts and Rhode Island participated in a group randomized trial with two intervention arms (B only, n = 25 programs; B + P, n = 33) and a control arm (C, n = 25). Outcome measures (primary: bone quality (stiffness index of the calcaneus) and muscular strength (grip strength and vertical jump); secondary: bone-strengthening behaviors (calcium-rich food knowledge, preference, and intake; and physical activity level (metabolic equivalent time (MET) score, and weight-bearing factor (WBF) score)) were recorded at baseline, and after years one and two. Analyses followed an intent-to-treat protocol, and focused on individual subjects’ trajectories along the three time points adjusting for baseline age and race via a mixed-effects regression framework. Analyses were performed with and without sex stratification.

Results
Children in B + P increased bone stiffness compared to C (p = 0.05); No significant changes were observed in muscle strength, food knowledge, or vertical jump. Children in B + P showed significant improvement in their MET and WBF scores compared to C (p < 0.01) with a stronger effect in boys in both B and B + P (all p < 0.01).

Conclusion
After-school programs, coupled with parental engagement, serving early elementary school children are a potentially feasible platform to deliver bone-strengthening behaviors to prevent osteoporosis in adulthood, with some encouraging bone and physical activity outcomes.

Trial registration
ClinicalTrials.govNCT00065247.
Retrospectively registered.
First posted July 22, 2003.
Modified osteotomy of posterolateral overhanging part of the trochanter via posterior approach for hip arthroplasty: an anatomical study
Authors: Zhou Xiaoxiao , Ji Houlin , Guo Jinhua , Yang Yang , Cai Pan , Zhang Xianlong 
Published: February 2020

Abstract
Backgroud
The osteotomy of the posterolateral overhanging part (PLOP) of the greater trochanter via posterior approach has been used for the hip arthroplasty for decades with good results. However, the osteotomy method remains undefined and the precise adjacent structures around PLOP have not been reported. The purpose of this study was to present a modified PLOP osteotomy approach and perform a detailed study of the topographic and surgical anatomy of the PLOP.

Methods
The peri-PLOP soft tissue and the bony parameters were measured using 10 cadavers with 20 hips and 20 skeletal hip specimens, respectively.

Results
A 1.8-cm vertical osteotomy did not jeopardize the femoral neck, and a 1.8-cm wide bone block did not damage the insertions of the short external rotators. The average distances between the most distal branch of the superior gluteal nerve/artery and the 1.8-cm point of the greater trochanter were 5.70 ± 0.66 cm and 6.33 ± 0.56 cm, respectively.

Conclusion
For osteotomy of the PLOP, we suggested that the width of the upper side from the lateral to medial greater trochanter should be 1.8 cm, depth of vertical osteotomy should be 1.8 cm, and length of the posterior edge should be 4 cm. Obturator externus tendon should be kept within the bone block of osteotomy. The proximal extension of the gluteus medius muscle split should be limited to 5.5 cm at the 1.8 cm-point of the greater trochanter.

Level of evidence
Prospective comparative study Level II.
Use and perceived added value of patient-reported measurement instruments by physiotherapists treating acute low back pain: a survey study among Dutch physiotherapists
Authors: Knoop J. , van Lankveld W. , Geerdink F. J. B. , Soer R. , Staal J. B. 
Published: February 2020

Abstract
Background
This study aims to explore (i) physiotherapists’ current use in daily practice of patient-reported measurement instruments (screening tools and questionnaires) for patients with acute low back pain (LBP), (ii) the underlying reasons for using these instruments, (iii) their perceived influence on clinical decision-making, and (iv) the association with physiotherapist characteristics (gender, physiotherapy experience, LBP experience, overall e-health affinity).

Methods
Survey study among Dutch physiotherapists in a primary care setting. A sample of 650 physiotherapists recruited from LBP-related and regional primary care networks received the survey between November 2018 and January 2019, of which 85 (13%) completed it.

Results
Nearly all responding physiotherapists (98%) reported using screening tools or other measurement instruments in cases of acute LBP; the Quebec Back Pain Disability Scale (64%) and the STarT Back Screening Tool (61%) are used most frequently. These instruments are primarily used to evaluate treatment effect (53%) or assess symptoms (51%); only 35% of the respondents mentioned a prognostic purpose. Almost three-quarters (72%) reported that the instrument only minimally impacted their clinical decision-making in cases of acute LBP.

Conclusions
Our survey indicates that physiotherapists frequently use patient-reported measurement instruments in cases of acute LBP, but mostly for non-prognostic reasons. Moreover, physiotherapists seem to feel that current instruments have limited added value for clinical decision-making. Possibly, a new measurement instrument (e.g., screening tool) needs to be developed that does fit the physiotherapist’s needs and preferences. Our findings also suggest that physiotherapist may need to be more critical about which measurement instrument they use and for which purpose.
Musculoskeletal injuries in athletes from five modalities: a cross-sectional study
Authors: Goes Rodrigo Araújo , Lopes Lucas Rafael , Cossich Victor Rodrigues Amaral , de Miranda Vitor Almeida Ribeiro , Coelho Olívia Nogueira , do Carmo Bastos Ricardo , Domenis Letícia Aparecida Marincolo , Guimarães João Antonio Matheus , Grangeiro-Neto João Alves , Perini Jamila Alessandra 
Published: February 2020

AbstractBackgroundMusculoskeletal injuries (MSK-I) are a serious problem in sports medicine. Modifiable and non-modifiable factors are associated with susceptibility to these injuries. Thus, the aim of this study was to describe the prevalence of and identify the factors associated with MSK-I, including tendinopathy and joint and muscle injuries, in athletes.MethodsIn this cross-sectional observational study, 627 athletes from rugby (n = 225), soccer (n = 172), combat sports (n = 86), handball (n = 82) and water polo (n = 62) were recruited at different sports training centres and competitions. Athlete profiles and the prevalence of MSK-I were assessed using a self-reported questionnaire. Only previous MSK-I with imaging confirmation and/or a positive physical exam by a specialized orthopaedist were considered. The association of the epidemiological, clinical and sports profiles of athletes with MSK-I was evaluated by a logistic regression model.ResultsThe mean age was 25 ± 6 years, and 60% of the athletes were male. The epidemiological, clinical and sports profiles of the athletes were different for the five sport groups. The MSK-I prevalence among all athletes was 76%, with 55% of MSK-I occurring in a joint, 48% occurring in a muscle and 30% being tendinopathy, and 19% of athletes had three investigated injuries. The MSK-I prevalence and injury locations were significantly different among sport groups. There was a predominance of joint injury in combat sports athletes (77%), muscle injury in handball athletes (67%) and tendinopathy in water polo athletes (52%). Age (≥30 years) was positively associated with joint (OR = 5.2 and 95% CI = 2.6–10.7) and muscle (OR = 4.9 and 95% CI = 2.4–10.1) injuries and tendinopathy (OR = 4.1 and 95% CI = 1.9–9.3).ConclusionThere is a high prevalence of tendinopathy and joint and muscle injuries among rugby, soccer, combat sports, handball and water polo athletes. The analysis of associated factors (epidemiological, clinical and sports profiles) and the presence of MSK-I in athletes suggests an approximately 4–5-fold increased risk for athletes ≥30 years of age. The identification of modifiable and non-modifiable factors can contribute to implementing surveillance programmes for MSK-I prevention.
The efficacy of continuous versus single-injection femoral nerve block in Total knee Arthroplasty: a systematic review and meta-analysis
Authors: Ma Hsuan-Hsiao , Chou Te-Feng Arthur , Tsai Shang-Wen , Chen Cheng-Fong , Wu Po-Kuei , Chen Wei-Ming 
Published: February 2020

AbstractBackgroundContinuous femoral nerve block (cFNB) has been developed to extend the analgesic effect since the efficacy of single-injection femoral nerve block (sFNB) is often limited to approximately 16–24 h. The aim of this meta-analysis was to validate the add-on effect of cFNB in the setting of a multimodal analgesic protocol.MethodsWe performed a comprehensive literature review on Web of Science, Embase, the Cochrane Library and PubMed. Eight randomized controlled trials (N = 626) that compared the efficacy of cFNB with sFNB were included. The primary outcome domains consist of visual analog scale (VAS) score at postoperative 24 and 48 h. The secondary outcome domains include opioid consumption, length of hospital stay and incidence of nausea.ResultsOur analysis revealed that cFNB was associated with a lower VAS score at 24 h (SMD: -0.277;95% CI − 0.503 to − 0.05). However, the difference of VAS score did not meet the minimal clinically importance difference for total knee arthroplasty (TKA). VAS score at 48 h was similar between the cFNB and sFNB group. The cFNB group was associated with less amount of opioids consumed at both 24(SMD: -1.056;95% CI − 1.737 to − 0.375) and 48 h(SMD: -1.040;95% CI − 1.790 to − 0.289). Length of hospital stay and incidence of nausea were similar between the two groups.ConclusionIn the setting of a multimodal analgesic protocol, patients might benefit from cFNB with regards to a reduced need of opioids in the early postoperative period. However, we did not find a clinically significant difference in pain scores at different time points between the cFNB and sFNB group.Level of evidenceI; meta-analysis.
Effectiveness of PUSH notifications from a mobile app for improving the body composition of overweight or obese women: a protocol of a three-armed randomized controlled trial
Authors: Hernández-Reyes A. , Molina-Recio G. , Molina-Luque R. , Romero-Saldaña M. , Cámara-Martos F. , Moreno-Rojas R. 
Published: February 2020

Abstract
Background
The penetration level of mobile technology has grown exponentially and is part of our lifestyle, at all levels. The use of the smartphone has opened up a new horizon of possibilities in the treatment of health, not in vain, around 40% of existing applications are linked to the mHealth segment. Taking advantage of this circumstance to study new approaches in the treatment of obesity and prescription of physical activity is growing interest in the field of health. The primary outcome (obese adult women) will be assessed according to age, fitness status, weight, and body composition status. Data will be collected at enrollment and weekly during 6 months of intervention on dietary practices, physical activity, anthropometry, and body composition. Analysis of effect will be performed comparing the outcomes between intervention and control arms. The message delivery is in progress.

Methods
A 3-arm clinical trial was established. A series of quantitative and qualitative measures were used to evaluate the effects of self-weighing and the establishment of objectives to be reached concerning the prescription of physical activity. At the end of this pilot study, a set of appropriate measures and procedures were identified and agreed upon to determine the effectiveness of messaging in the form of PUSH technology. The results were recorded and analyzed to begin a randomized controlled trial to evaluate the effectiveness of the proposed methodology.

Conclusions
The study is anticipated to establish feasibility of using PUSH notifications to evaluate whether or not an intervention of 6 months, directed by a team formed by Dietician-Nutritionist and nursing professionals, by means of an application for Smartphone and a personal consultation, improves the body composition of adult women with a fat percentage equal to or higher than 30% at the beginning of the study.

Trial registration
Clinical Trials ID: NCT03911583. First Submitted: April 9, 2019. Ethical oversight is provided by the Bioethical Committee of Córdoba University and registered in the platform clinicaltrials.gov. The results will be published in peer-reviewed journals and analysis data will be made public.