bluuebunny/crossref_metadata_2025_split huggingface dataset:
High Prevalence of Connective Tissue Gene Variants in Professional Ballet
Authors: Vera Angelina M. , Peterson Leif E. , Dong David , Haghshenas Varan , Yetter Thomas R. , Delgado Domenica A. , McCulloch Patrick C. , Varner Kevin E. , Harris Joshua D. 
Published: November 2019

Background: There is a high prevalence of hypermobility spectrum disorder (HSD) in dancers. While there is no known genetic variant for HSD, hypermobile Ehlers-Danlos syndrome is a genetic disorder that exists within HSD. There are many connective tissue disorders (CTDs) with known (and unknown) genes associated with hypermobility. Hypermobility has distinct advantages for participation in flexibility sports, including ballet. Purpose: To determine the prevalence of gene variants associated with hypermobility in a large professional ballet company. Study Design: Cross-sectional study; Level of evidence, 3. Methods: In this cross-sectional investigation, 51 professional male and female dancers from a large metropolitan ballet company were eligible and offered participation after an oral and written informed consent process. Whole blood was obtained from peripheral venipuncture, and DNA was isolated. Isolated DNA was subsequently enriched for the coding exons of 60 genes associated with CTD that included hypermobility as a phenotype, including Ehlers-Danlos syndromes, osteogenesis imperfecta, Marfan syndrome, and others. Genes were targeted with hybrid capture technology. Prepared DNA libraries were then sequenced with next-generation sequencing technology. Genetic database search tools (Human Gene Mutation Database and e!Ensembl, http://useast.ensembl.org/ ) were used to query specific variants. Descriptive statistics were calculated. Results: Of 51 dancers, 32 (63%) agreed to participate in DNA analysis (mean ± SD age, 24.3 ± 4.4 years; 18 men, 14 women). Twenty-eight dancers had at least 1 variant in the 60 genes tested, for an 88% prevalence. A total of 80 variants were found. A variant in 26 of the 60 genes was found in at least 1 dancer. Among the 28 dancers with variants, 16 were found in the TTN gene; 10 in ZNF469; 5 in RYR1; 4 in COL12A1; 3 in ABCC6 and COL6A2; 2 in ADAMTS2, CBS, COL1A2, COL6A3, SLC2A10, TNC, and TNXB; and 1 in ATP6V0A2, B4GALT7, BMP1, COL11A1, COL5A2, COL6A1, DSE, FBN1, FBN2, NOTCH1, PRDM5, SMAD3, and TGFBR1. Nine variants found in this population have never been reported. No identified variant was identical to any other variant. No identified variant was known to be disease causing. In the general population, the prevalence of each variant ranges from never reported to 0.33%. In the study population, the prevalence of each variant was 3.13%. There was no association between hypermobility scores and genetic variants. Conclusion: Genetic variants in CTD-associated genes are highly prevalent (88%) in professional ballet dancers. This may significantly account for the high degree of motion in this population.
Acetabular Morphologic Characteristics Predict Early Conversion to Arthroplasty After Isolated Hip Arthroscopy for Femoroacetabular Impingement
Authors: Giordano Brian D. , Kuhns Benjamin D. , Perets Itay , Yuen Leslie , Domb Benjamin G. 
Published: November 2019

Background: Hip arthroscopy in the setting of dysplasia and borderline dysplasia is controversial. Dysplasia severity is most often defined by the lateral center edge angle (LCEA) but can also be evaluated radiographically by the acetabular inclination (AI). Purpose/Hypothesis: The purpose was to determine the effect of AI on outcomes after isolated hip arthroscopy for femoroacetabular impingement (FAI). We hypothesized that patients with dysplasia would have higher rates of arthroplasty as well as inferior clinical and functional outcomes compared with patients who did not have dysplasia. Study Design: Cohort study; Level of evidence, 3. Methods: A hip arthroscopy registry was reviewed for participants undergoing arthroscopic correction of FAI from February 28, 2008, to June 10, 2013. Participants required a clinical diagnosis and isolated arthroscopic correction of FAI with preoperative imaging and intraoperative cartilage status recorded. AI dysplasia was defined as an AI greater than 10°, LCEA dysplasia as LCEA less than 18°, and borderline LCEA dysplasia as LCEA 18° to 25°. Patients without an acetabular deformity (LCEA 25°-40°; AI <10°) served as a control population. Postoperative variables included patient-reported outcome surveys with conversion to arthroplasty as the primary endpoint. Minimum 5-year outcome scores were obtained for 337 of 419 patients (80.4%) with an average follow-up of 75.2 ± 12.7 months. Results: This study included 419 patients: 9 (2%) with LCEA dysplasia, 42 (10%) with AI dysplasia, and 51 (12%) with borderline dysplasia. The AI but not LCEA was significantly correlated with lower outcome scores on the modified Harris Hip Score ( r = 0.13; P = .01), Non-Arthritic Hip Score ( r = 0.10; P = .04), and Hip Outcome Score–Sports Subscale ( r = 0.11; P = .04). A total of 58 patients (14%) underwent arthroplasty at 31 ± 20 months postoperatively. Patients with LCEA dysplasia had an arthroplasty rate of 56% (odds ratio, 8.4), whereas patients with AI dysplasia had an arthroplasty rate of 31% (odds ratio, 3.3), which was significantly greater than the rate for the nondysplastic cohort (13.5%; P < .0001). Patients with borderline LCEA dysplasia did not have increased rates of arthroplasty. A multivariate analysis found increasing age, increasing AI, Tönnis grade higher than 1, and femoral Outerbridge grade higher than 2 to be most predictive of conversion to arthroplasty. Conclusion: We found that an elevated AI, along with increasing age, Tönnis grade, and femoral Outerbridge grade significantly predict early conversion to arthroplasty after isolated hip arthroscopy. We recommend using the AI, in addition to the LCEA, in evaluating hip dysplasia before hip arthroscopy.
Ultra-low-dose (boom-boom) radiotherapy for choroidal lymphoma in three consecutive cases
Authors: Yang Xiaolu , Dalvin Lauren A , Lim Li-Anne S , Mashayekhi Arman , Shields Jerry A , Shields Carol L 
Published: November 2019

Purpose: To describe the outcome of ultra-low-dose (boom-boom) radiotherapy for choroidal lymphoma. Methods: Retrospective series of three consecutive patients with biopsy-proven choroidal lymphoma treated with ultra-low-dose radiotherapy. Results: The three patients (two male, one female) of mean age 70 years (range, 64–74 years) demonstrated presenting visual acuity in the affected eye between 20/40 and 20/50. The choroidal lymphoma was unilateral in all cases and presented with multifocal yellow patchy choroidal infiltration, located in all four quadrants and measuring mean 2.9 mm (range, 1.9–4.0 mm) in thickness by ultrasonography. Anterior epibulbar extension of 5 mm diameter was noted in one case. By enhanced depth imaging optical coherence tomography, the choroidal infiltration demonstrated classic undulating appearance (n = 3), with subretinal fluid (n = 2) and intraretinal edema (n = 1). There was no systemic lymphoma in any case. Biopsy was performed in all three cases and was diagnostic (n = 1) or suggestive (n = 2) of B-cell lymphoma. Management involved ultra-low-dose radiotherapy (4 Gy delivered in two fractions, “boom-boom”). On follow-up (mean = 14 months, range = 6–24 months), complete tumor regression on ophthalmoscopy was documented in all three cases, with enhanced depth imaging optical coherence tomography and ultrasonography demonstrating evidence of lymphoma resolution and visual acuity improvement to 20/25–20/40. There were no radiation complications. Conclusion: In this small case series, ultra-low-dose (boom-boom) radiotherapy was effective for choroidal lymphoma with favorable response and minimal side effects.
Gender Disparities in Surgical Treatment of Axis Fractures in Older Adults
Authors: Catalino Michael P. , Kessler Brice A. , Pate Virginia , Cutshaw Drew , Stürmer Til , Bhowmick Deb A. 
Published: November 2019

Study Design: Retrospective cohort study. Objectives: Gender appears to play in important role in surgical outcomes following acute cervical spine trauma, with current literature suggesting males have a significantly higher mortality following spine surgery. However, no well-adjusted population-based studies of gender disparities in incidence and outcomes of spine surgery following acute traumatic axis injuries exist to our knowledge. We hypothesized that females would receive surgery less often than males, but males would have a higher 1-year mortality following isolated traumatic axis fractures. Methods: We performed a retrospective cohort study using Medicare claims data that identified US citizens aged 65 and older with ICD-9 (International Classification of Diseases, Ninth Revision) code diagnosis corresponding to isolated acute traumatic axis fracture between 2007 and 2014. Our primary outcome was defined as cumulative incidence of surgical treatment, and our secondary outcome was 1-year mortality. Propensity weighted analysis was performed to balance covariates between genders. Our institutional review board approved the study (IRB #16-0533). Results: There was no difference in incidence of surgery between males and females following acute isolated traumatic axis fractures (7.4 and 7.5 per 100 fractures, respectively). Males had significantly higher 1-year weighted mortality overall (41.7 and 28.9 per 100 fractures, respectively, P < .001). Conclusion: Our well-adjusted data suggest there was no significant gender disparity in incidence of surgical treatment over the study period. The data also support previous observations that males have worse outcomes in comparison to females in the setting of axis fractures and spinal trauma regardless of surgical intervention.
Sex-Based Differences in Patient-Reported Outcomes After Arthroscopic Rotator Cuff Repair
Authors: Daniels Stephen D. , Stewart Cory M. , Garvey Kirsten D. , Brook Emily M. , Higgins Laurence D. , Matzkin Elizabeth G. 
Published: November 2019

Background: Rotator cuff repair is one of the most common surgical procedures performed on the shoulder. Previous studies have indicated that pain and disability can vary significantly between patients with similarly appearing rotator cuff tears on diagnostic imaging. Prior literature has compared functional outcomes between operative and nonoperative treatments as well as variability in surgical techniques. However, few studies have examined postoperative outcomes based on patient factors such as sex. Purpose: To compare patient-reported outcomes after rotator cuff repair between men and women. Study Design: Cohort study; Level of evidence, 2. Methods: A total of 283 patients (153 male, 130 female) who underwent primary arthroscopic rotator cuff repair were included in this study; of those, 275 patients (97.2%) completed 1-year follow-up. Patient-reported pain visual analog scale (VAS), Veterans RAND 12-item Health Survey (VR-12 mental and physical components), American Shoulder and Elbow Surgeons (ASES), and Single Assessment Numeric Evaluation (SANE) scores were collected preoperatively and at 2 weeks, 6 weeks, 3 months, 6 months, and 1 year postoperatively using an electronic outcomes system. Results: Women reported higher VAS pain scores when compared with men preoperatively ( P < .01) and at 2 weeks ( P < .01), 6 weeks ( P < .01), and 3 months ( P = .02) postoperatively. Additionally, women experienced a greater overall change in the mean VAS score preoperatively when compared with 1 year postoperatively ( P < .01). The use of narcotic pain medication 2 weeks after surgery was greater in women ( P = .032). Women had significantly lower preoperative VR-12 mental scores ( P = .03) and experienced a greater increase in the mean VR-12 mental score preoperatively when compared with 1 year postoperatively ( P < .01). Men had higher ASES scores preoperatively ( P < .01) and at 3 months postoperatively ( P < .01). Women experienced a greater overall change in the ASES score preoperatively when compared with 1 year postoperatively ( P < .01). Conclusion: Women reported greater pain and decreased shoulder function compared with men during the initial 3 months after arthroscopic rotator cuff repair. There were no sex-based differences in patient-reported outcomes at 1-year follow-up. The results of this study indicate that there are sex-related differences in the early postoperative recovery of patients undergoing rotator cuff repair, contributing to postoperative expectations for both clinicians and patients alike.
Biomechanical Comparison of the Long Head of the Biceps Tendon Versus Conjoint Tendon Transfer in a Bone Loss Shoulder Instability Model
Authors: Bokshan Steven L. , Gil Joseph A. , DeFroda Steven F. , Badida Rohit , Crisco Joseph J. , Owens Brett D. 
Published: November 2019

Background: Augmentation of Bankart repair with long head of the biceps tendon transfer has been previously described, although there is a paucity of literature describing its biomechanical effects. Purpose/Hypothesis: The purpose of this study was to assess the effect of augmenting Bankart repair with either the conjoint tendon or the long head of the biceps tendon, both with and without subcritical (13%) glenoid bone loss. We hypothesized that, in a cadaveric model, augmenting Bankart repair with the long head of the biceps tendon would restore a greater degree of stability compared with augmenting Bankart repair with the conjoint tendon. Study Design: Controlled laboratory study. Methods: A total of 12 cadaveric shoulders were tested on a 6-degrees-of-freedom robotic musculoskeletal simulator to measure the peak resistance force due to an anterior displacement of 1 cm. The rotator cuff muscles were loaded during testing to simulate physiological conditions. The following test conditions were used for each specimen: (1) intact shoulder, (2) Bankart lesion with 13% anterior bone loss, (3) 13% bone loss with Bankart repair (anchors placed at the 3-, 4-, and 5-o’clock positions), (4) 13% bone loss with both Bankart repair and transfer of the long head of the biceps tendon, and (5) 13% bone loss with Bankart repair and transfer of the conjoint tendon. Results: Labral repair with the addition of long head of the biceps tendon transfer had the greatest peak resistance force to anterior displacement among all groups (54.1 ± 5.5 N) and was significantly stronger than both standard Bankart repair by 16.3% (46.5 ± 7.6 N; P = .039) and the conjoint transfer procedure by 16.6% (46.4 ± 7.7 N; P = .008). Conclusion: Given the susceptibility of recurrent instability in shoulders with subcritical bone loss after isolated labral repair, it is important to consider augmenting Bankart repair in high-risk patients to avoid potential recurrence and the need for reoperations. Transferring the long head of the biceps tendon to the anterior glenoid represents one possible augmentation. Clinical Relevance: We present biomechanical data for a relatively novel technique for augmenting capsulolabral repair strength in an anterior instability model with subcritical bone loss. These data represent biomechanical justification for the utilization of this relatively novel technique.
Defining Components of Early Functional Rehabilitation for Acute Achilles Tendon Rupture: A Systematic Review
Authors: Zellers Jennifer A. , Christensen Marianne , Kjær Inge Lunding , Rathleff Michael Skovdal , Silbernagel Karin Grävare 
Published: November 2019

Background: Early functional rehabilitation is frequently discussed in treating Achilles tendon rupture. A consistent definition of what constitutes early functional rehabilitation has not been established across the literature, despite studies supporting its efficacy. A standardized definition would be helpful to pool data across studies, allow for between-study comparisons, and ultimately work toward developing clinical guidelines. Purpose: To define early functional rehabilitation (including when it is initiated and what it entails) when used to treat Achilles tendon rupture and to identify outcome measures for evaluating the effect of treatment. Study Design: Systematic review; Level of evidence, 4. Methods: Ovid MEDLINE, EMBASE, PEDro, CINAHL, and Cochrane databases were searched for relevant studies. Eligibility criteria for selecting studies consisted of randomized controlled trials, cohort studies, and case series (≥10 participants) including weightbearing or exercise-based interventions within 8 weeks after Achilles tendon rupture. Results: A total of 174 studies published between 1979 and 2018 were included. Studies were rated a median (interquartile range [IQR]) of 17 (15-20) on the Downs & Black checklist and included 9098 participants. Early functional rehabilitation incorporated weightbearing (95%), range of motion (73%), and isometric/strengthening exercises (50%). Weightbearing was initiated within the first week, whereas exercise (eg, ankle range of motion, strengthening, whole-body conditioning) was initiated in the second week. Initiation of exercises varied based on whether treatment was nonsurgical (mean, 3.0 weeks; IQR, 2.0-4.0 weeks) or simple (mean, 2.0 weeks; IQR, 0.0-2.3 weeks) or augmented surgical repair (mean, 0.5 weeks; IQR, 0.0-2.8 weeks) ( P = .017). Functional outcomes including ankle range of motion (n = 84) and strength (n = 76) were reported in 130 studies. Other outcome domains included patient-reported outcomes (n = 89), survey-based functional outcomes (n = 50), and tendon properties (n = 53). Conclusion: Early functional rehabilitation includes weightbearing and a variety of exercise-based interventions initiated within the first 2 weeks after acute Achilles tendon rupture/repair. Because early functional rehabilitation has lacked a standardized definition, interventions and outcome measures are highly variable, and pooling data across studies should be done with attention paid to what was included in the intervention and how treatment was assessed.
Emulation of Community Water Fluoridation Coverage Across US Counties
Authors: Curiel J.A. , Sanders A.E. , Slade G.D. 
Published: November 2019

Introduction: Expansion of community water fluoridation has stalled in the United States, leaving 115 million Americans without fluoridated drinking water. Objective: This study used spatial regression methods to assess contributions of supply-side factors (neighboring counties’ fluoridation coverage) and demand-side factors (health literacy, education, and population density of the local county) in predicting the extent of fluoridation in US counties. Methods: For this cross-sectional ecological analysis, data from the 2014 Water Fluoridation Reporting System for all 3,135 US counties were merged with sociodemographic data from the 2014 American Community Survey and county-level estimates of health literacy based on the National Association of Adult Literacy Survey. We employed multilevel geographically weighted autoregressive models to predict fluoridation coverage of each county as a function of fluoridation coverage of neighboring counties and local-county covariates: either health literacy or sociodemographic characteristics. Akaike’s Information Criterion was used to distinguish the better model in terms of explanatory power and parsimony. Results: In the best-fit model, an increase from the first to third quartile of neighboring counties’ fluoridation coverage was associated with an increase of 27.76 percentage points (95% confidence limits [CI] = 27.71, 27.81) in a local county’s fluoridation coverage, while an increase from the first to third quartile of local county’s health literacy was associated with an increase of 2.8 percentage points (95% CL = 2.68, 2.89). The results are consistent with a process of emulation, in which counties implement fluoridation based upon their population’s health literacy and the extent of fluoridation practiced in neighboring counties. Conclusion: These results suggest that demand for community water fluoridation will increase as health literacy increases within a county. Furthermore, when considering expansion of fluoridation, non-fluoridated communities can benefit from precedents from nearby communities that are fluoridated. Knowledge Transfer Statement: Expanded coverage of community water fluoridation has stalled in the United States. The economic theory of diffusion describes how, over time and space, policy enacted in one community can influence public opinion in a neighboring community. This study applies geospatial analysis of county-level data and the theory of policy diffusion to demonstrate that fluoridated counties can promote the implementation of community water fluoridation in their neighboring, non-fluoridated communities.
Tackling the triple threats of childhood malnutrition
Authors: Mwangome Martha , Prentice Andrew M. 
Published: November 2019

AbstractThe term ‘double burden of malnutrition’ is usually interpreted in terms of the physical status of children: stunted and wasted children on the one hand and overweight/obese children on the other. There is a third category of malnutrition that can occur at either end of the anthropometric spectrum or, indeed, in children whose physical size may be close to ideal. This third type is most commonly articulated with the phrase ‘hidden hunger’ and is often illustrated by micronutrient deficiencies; thus, we refer to it here as ‘undernutrition’. As understanding of such issues advances, we realise that there is a myriad of factors that may be influencing a child’s road to nutritional health. In this BMC Medicine article collection we consider these influences and the impact they have, such as: the state of the child’s environment; the effect this has on their risk of, and responses to, infection and on their gut; the consequences of poor nutrition on cognition and brain development; the key drivers of the obesity epidemic across the globe; and how undernourishment can affect a child’s body composition. This collection showcases recent advances in the field, but likewise highlights ongoing challenges in the battle to achieve adequate nutrition for children across the globe.
DNA methylation aging clocks: challenges and recommendations
Authors: Bell Christopher G. , Lowe Robert , Adams Peter D. , Baccarelli Andrea A. , Beck Stephan , Bell Jordana T. , Christensen Brock C. , Gladyshev Vadim N. , Heijmans Bastiaan T. , Horvath Steve , Ideker Trey , Issa Jean-Pierre J. , Kelsey Karl T. , Marioni Riccardo E. , Reik Wolf , Relton Caroline L. , Schalkwyk Leonard C. , Teschendorff Andrew E. , Wagner Wolfgang , Zhang Kang , Rakyan Vardhman K. 
Published: November 2019

AbstractEpigenetic clocks comprise a set of CpG sites whose DNA methylation levels measure subject age. These clocks are acknowledged as a highly accurate molecular correlate of chronological age in humans and other vertebrates. Also, extensive research is aimed at their potential to quantify biological aging rates and test longevity or rejuvenating interventions. Here, we discuss key challenges to understand clock mechanisms and biomarker utility. This requires dissecting the drivers and regulators of age-related changes in single-cell, tissue- and disease-specific models, as well as exploring other epigenomic marks, longitudinal and diverse population studies, and non-human models. We also highlight important ethical issues in forensic age determination and predicting the trajectory of biological aging in an individual.