bluuebunny/crossref_metadata_2025_split huggingface dataset:
Unwinding chromatin at the right places: how BAF is targeted to specific genomic locations during development
Authors: Ho Patric J. , Lloyd Sarah M. , Bao Xiaomin 
Published: September 2019

ABSTRACT
The BAF (SWI/SNF) chromatin remodeling complex plays a crucial role in modulating spatiotemporal gene expression during mammalian development. Although its remodeling activity was characterized in vitro decades ago, the complex actions of BAF in vivo have only recently begun to be unraveled. In living cells, BAF only binds to and remodels a subset of genomic locations. This selectivity of BAF genomic targeting is crucial for cell-type specification and for mediating precise responses to environmental signals. Here, we provide an overview of the distinct molecular mechanisms modulating BAF chromatin binding, including its combinatory assemblies, DNA/histone modification-binding modules and post-translational modifications, as well as its interactions with proteins, RNA and lipids. This Review aims to serve as a primer for future studies to decode the actions of BAF in developmental processes.
Histone H3K27 acetylation precedes active transcription during zebrafish zygotic genome activation as revealed by live-cell analysis
Authors: Sato Yuko , Hilbert Lennart , Oda Haruka , Wan Yinan , Heddleston John M. , Chew Teng-Leong , Zaburdaev Vasily , Keller Philipp , Lionnet Timothee , Vastenhouw Nadine , Kimura Hiroshi 
Published: September 2019

ABSTRACT
Histone post-translational modifications are key gene expression regulators, but their rapid dynamics during development remain difficult to capture. We applied a Fab-based live endogenous modification labeling technique to monitor the changes in histone modification levels during zygotic genome activation (ZGA) in living zebrafish embryos. Among various histone modifications, H3 Lys27 acetylation (H3K27ac) exhibited most drastic changes, accumulating in two nuclear foci in the 64- to 1k-cell-stage embryos. The elongating form of RNA polymerase II, which is phosphorylated at Ser2 in heptad repeats within the C-terminal domain (RNAP2 Ser2ph), and miR-430 transcripts were also concentrated in foci closely associated with H3K27ac. When treated with α-amanitin to inhibit transcription or JQ-1 to inhibit binding of acetyl-reader proteins, H3K27ac foci still appeared but RNAP2 Ser2ph and miR-430 morpholino were not concentrated in foci, suggesting that H3K27ac precedes active transcription during ZGA. We anticipate that the method presented here could be applied to a variety of developmental processes in any model and non-model organisms.
Vesiculobullous exanthema in a 3-month-old child with probable acute chikungunya infection
Authors: Farias Luis Arthur Brasil Gadelha , Pires Neto Roberto da Justa , Leite Robério Dias 
Published: September 2019

Objective: to report a rare case of a 3-month-old child with acute chikungunya infection presenting as vesiculobullous rash. Case description: herein we report a case of a 3-month-old infant which developed a diffuse erythematous rash involving the trunk and limbs within two days after sudden acute fever, and also presented striking irritability with inconsolable crying, hyporexia, cough, and coryza. Hematological and biochemical investigations were undertaken and were found to be normal. Serum samples were tested for Chikungunya revealing positive IgM. He was treated with supportive therapy, mainly with antipyretics, venous hydration and rest evolving with entirely resolution of the symptoms after four days. Comments: Chikungunya fever is a disease caused by the Chikungunya virus which can be found in endemic areas such as Brazil. Atypical manifestations can affect various systems including the skin and may be more frequent in children. The role of dermatological manifestations related to Chikungunya infection is not completely understood. The reported case is an unusual case of Chikungunya infection which highlights the importance of to know and to be aware of this manifestation in children mainly in new endemic areas such as Brazil.
Posterior cruciate ligament resection in total knee arthroplasty
Authors: Kayani Babar , Konan Sujith , Horriat Saman , Ibrahim Mazin S. , Haddad Fares S. 
Published: September 2019

AimsThe aim of this study was to assess the effect of posterior cruciate ligament (PCL) resection on flexion-extension gaps, mediolateral soft-tissue laxity, fixed flexion deformity (FFD), and limb alignment during posterior-stabilized (PS) total knee arthroplasty (TKA).Patients and MethodsThis prospective study included 110 patients with symptomatic osteoarthritis of the knee undergoing primary robot-assisted PS TKA. All operations were performed by a single surgeon using a standard medial parapatellar approach. Optical motion capture technology with fixed femoral and tibial registration pins was used to assess gaps before and after PCL resection in extension and 90° knee flexion. Measurements were made after excision of the anterior cruciate ligament and prior to bone resection. There were 54 men (49.1%) and 56 women (50.9%) with a mean age of 68 years (sd 6.2) at the time of surgery. The mean preoperative hip-knee-ankle deformity was 4.1° varus (sd 3.4).ResultsPCL resection increased the mean flexion gap significantly more than the extension gap in the medial (2.4 mm (sd 1.5) vs 1.3 mm (sd 1.0); p < 0.001) and lateral (3.3 mm (sd 1.6) vs 1.2 mm (sd 0.9); p < 0.01) compartments. The mean gap differences after PCL resection created significant mediolateral laxity in flexion (gap difference: 1.1 mm (sd 2.5); p < 0.001) but not in extension (gap difference: 0.1 mm (sd 2.1); p = 0.51). PCL resection significantly improved the mean FFD (6.3° (sd 4.4) preoperatively vs 3.1° (sd 1.5) postoperatively; p < 0.001). There was a strong positive correlation between the preoperative FFD and change in FFD following PCL resection (Pearson’s correlation coefficient = 0.81; p < 0.001). PCL resection did not significantly affect limb alignment (mean change in alignment: 0.2° valgus (sd 1.2); p = 0.60).ConclusionPCL resection creates flexion-extension mismatch by increasing the flexion gap more than the extension gap. The increase in the lateral flexion gap is greater than the increase in the medial flexion gap, which creates mediolateral laxity in flexion. Improvements in FFD following PCL resection are dependent on the degree of deformity before PCL resection. Cite this article: Bone Joint J 2019;101-B:1230–1237
Interpreting and reporting fracture classification and operation type in hip fracture
Authors: Masters James , Metcalfe David , Parsons Nick R. , Achten Juul , Griffin Xavier L. , Costa Matt L. ,   WHiTE Collaborative Investigators
Published: September 2019

AimsThis study explores data quality in operation type and fracture classification recorded as part of a large research study and a national audit with an independent review.Patients and MethodsAt 17 centres, an expert surgeon reviewed a randomly selected subset of cases from their centre with regard to fracture classification using the AO system and type of operation performed. Agreement for these variables was then compared with the data collected during conduct of the World Hip Trauma Evaluation (WHiTE) cohort study. Both types of surgery and fracture classification were collapsed to identify the level of detail of reporting that achieved meaningful agreement. In the National Hip Fracture Database (NHFD), the types of operation and fracture classification were explored to identify the proportion of “highly improbable” combinations.ResultsThe records were reviewed for 903 cases. Agreement for the subtypes of extracapsular fracture was poor; most centres achieved no better than “fair” agreement. When the classification was collapsed to a single option for “extracapsular” fracture, only four centres failed to have at least “moderate” agreement. There was only “moderate” agreement for the subtypes of intracapsular fracture, which improved to “substantial” when collapsed to “intracapsular”. Subtrochanteric fracture types were well reported with “substantial” agreement. There was near “perfect” agreement for internal fixation procedures. “Perfect” or “substantial” agreement was achieved when the type of arthroplasty surgery was reported at the level of “hemiarthroplasty” and “total hip replacement”. When reviewing data submitted to the NHFD, a minimum of 5.2% of cases contained “highly improbable” procedures for the stated fracture classification.ConclusionThe complexity of collecting fracture classification data at a national scale compromises the accuracy with which detailed classification systems can be reported. Data around type of surgery performed show similar tendencies. Data capture, reporting, and interpretation in future studies must take this into account. Cite this article: Bone Joint J 2019;101-B:1292–1299
Prevalence and diagnostic accuracy of in-toeing and out-toeing of the foot for patients with abnormal femoral torsion and femoroacetabular impingement
Authors: Lerch Till D. , Eichelberger Patric , Baur Heiner , Schmaranzer Florian , Liechti Emanuel F. , Schwab Joe M. , Siebenrock Klaus A. , Tannast Moritz 
Published: September 2019

AimsAbnormal femoral torsion (FT) is increasingly recognized as an additional cause for femoroacetabular impingement (FAI). It is unknown if in-toeing of the foot is a specific diagnostic sign for increased FT in patients with symptomatic FAI. The aims of this study were to determine: 1) the prevalence and diagnostic accuracy of in-toeing to detect increased FT; 2) if foot progression angle (FPA) and tibial torsion (TT) are different among patients with abnormal FT; and 3) if FPA correlates with FT.Patients and MethodsA retrospective, institutional review board (IRB)-approved, controlled study of 85 symptomatic patients (148 hips) with FAI or hip dysplasia was performed in the gait laboratory. All patients had a measurement of FT (pelvic CT scan), TT (CT scan), and FPA (optical motion capture system). We allocated all patients to three groups with decreased FT (< 10°, 37 hips), increased FT (> 25°, 61 hips), and normal FT (10° to 25°, 50 hips). Cluster analysis was performed.ResultsWe found a specificity of 99%, positive predictive value (PPV) of 93%, and sensitivity of 23% for in-toeing (FPA < 0°) to detect increased FT > 25°. Most of the hips with normal or decreased FT had no in-toeing (false-positive rate of 1%). Patients with increased FT had significantly (p < 0.001) more in-toeing than patients with decreased FT. The majority of the patients (77%) with increased FT walk with a normal foot position. The correlation between FPA and FT was significant (r = 0.404, p < 0.001). Five cluster groups were identified.ConclusionIn-toeing has a high specificity and high PPV to detect increased FT, but increased FT can be missed because of the low sensitivity and high false-negative rate. These results can be used for diagnosis of abnormal FT in patients with FAI or hip dysplasia undergoing hip arthroscopy or femoral derotation osteotomy. However, most of the patients with increased FT walk with a normal foot position. This can lead to underestimation or misdiagnosis of abnormal FT. We recommend measuring FT with CT/MRI scans in all patients with FAI. Cite this article: Bone Joint J 2019;101-B:1218–1229
Single versus dual Kirschner wires for closed reduction and intramedullary nailing of displaced fractures of the fifth metacarpal neck (1-2 KiWi): a randomized controlled trial
Authors: Eisenschenk Andreas , Spitzmüller Romy , Güthoff Claas , Obladen Adrian , Kim Simon , Henning Esther , Dornberger Jenny E. , Stengel Dirk ,   1-2-KiWi Investigators
Published: September 2019

Aims The aim of this study was to investigate whether clinical and radiological outcomes after intramedullary nailing of displaced fractures of the fifth metacarpal neck using a single thick Kirschner wire (K-wire) are noninferior to those of technically more demanding fixation with two thinner dual wires. Patients and Methods This was a multicentre, parallel group, randomized controlled noninferiority trial conducted at 12 tertiary trauma centres in Germany. A total of 290 patients with acute displaced fractures of the fifth metacarpal neck were randomized to either intramedullary single-wire (n = 146) or dual-wire fixation (n = 144). The primary outcome was the Disabilities of the Arm, Shoulder and Hand (DASH) questionnaire six months after surgery, with a third of the minimal clinically important difference (MCID) used as the noninferiority threshold. Secondary outcomes were pain, health-related quality of life (EuroQol five-dimensional questionnaire (EQ-5D)), radiological measures, functional deficits, and complications. Results Overall, 151/290 of patients (52%) completed the six months of follow-up, leaving 83 patients in the single-wire group and 68 patients in the dual-wire group. In the modified intention-to-treat analysis set, mean DASH scores six months after surgery were 3.8 (sd 7.0) and 4.4 (sd 9.4), respectively. With multiple imputation (n = 288), mean DASH scores were estimated at 6.3 (sd 8.7) and 7.0 (sd 10.0). Upper (1 - 2α)) confidence limits consistently remained below the noninferiority margin of 3.0 points in the DASH instrument. While there was a statistically nonsignificant trend towards a higher rate of shortening and rotational malalignment in the single wire group, no statistically significant differences were observed across groups in any secondary outcome measure. Conclusion A single thick K-wire is sufficient for intramedullary fixation of acute displaced subcapital fractures of the fifth metacarpal neck. The less technically demanding single-wire technique produces noninferior clinical and radiological outcomes compared with the dual-wire approach. Cite this article: Bone Joint J 2019;101-B:1263–1271
A Call for Better Data on Prevalence and Health Surveillance of People With Intellectual and Developmental Disabilities
Authors: Krahn Gloria L. 
Published: September 2019

Abstract
The U.S. approach to the health of people with intellectual and developmental disabilities (IDD) is fraught with paradox. The health of this population has been of longstanding concern, yet we understand their health less well than many other groups. The U.S. spends much more per person on the well-being of people with IDD compared to the general population, yet the outcomes of those expenditures are disappointing and include significant preventable health disparities. Even as expectations for people with IDD have changed to include better health and greater participation in their communities, eligibility for services that support these outcomes is rooted in expectations of dependence and poverty. This article is a call for better data that considers a series of questions to provide context for understanding the need and directions for better health surveillance of people with IDD.
Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability Research
Authors: Balogh Robert , Leonard Helen , Bourke Jenny , Brameld Kate , Downs Jenny , Hansen Michele , Glasson Emma , Lin Elizabeth , Lloyd Meghann , Lunsky Yona , O'Donnell Melissa , Shooshtari Shahin , Wong Kingsley , Krahn Gloria 
Published: September 2019

Abstract
Data linkage holds great promise for generating new information about people with intellectual and developmental disabilities (IDD) as a population, yet few centers have developed the infrastructure to utilize this methodology. Two examples, from Canada and Australia, describe their efforts in building data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research. The value of data linkage is illustrated through new estimates of prevalence of IDD; health service utilization patterns; associations with sociodemographic characteristics, and with physical and mental health conditions (e.g., chronic diseases, injury, fertility, and depression); and findings on equity in medical treatments. Examples are provided of findings used for governmental policy and program planning.
Technology Tools: Increasing Our Reach in National Surveillance of Intellectual and Developmental Disabilities
Authors: Wagner Jordan B. , Kim Minje , Tassé Marc J. 
Published: September 2019

Abstract
Challenges in collecting comprehensive health surveillance data on people with intellectual and developmental disabilities (IDD) are numerous. A number of important issues and strategies are discussed in the articles contained in this special issue of Intellectual and Developmental Disabilities. In this article, we focus on the advances and tools available in the area of technology. We explore a number of possible sources including accessing big data such as analyzing health information contained in Medicaid and Medicare health databases. We also discuss some of the possibilities afforded to us by complementing Medicaid/Medicare database information with health information available in the myriad of electronic health records. Lastly, we explore other technologies available that might yield valuable health supports and information, including wearable devices, remote supports and other smart home technologies, telehealth and telepsychiatry, as well as looking at ways to access other technologies that collect health information (e.g., glucometer, health apps, connected exercise devices, etc.).
Clinical Use of a New High-Sensitivity Cardiac Troponin I Assay in Patients with Suspected Myocardial Infarction
Authors: Boeddinghaus Jasper , Twerenbold Raphael , Nestelberger Thomas , Koechlin Luca , Wussler Desiree , Meier Mario , Troester Valentina , Zimmermann Tobias , Badertscher Patrick , Wildi Karin , Rubini Giménez Maria , Lopez-Ayala Pedro , Potlukova Eliska , Miró Òscar , Martin-Sanchez F Javier , Kawecki Damian , Geigy Nicolas , Keller Dagmar I , Reichlin Tobias , Mueller Christian , du Fay de Lavallaz Jeanne , Walter Joan Elias , Freese Michael , Puelacher Christian , Hafner Benjamin , Strebel Ivo , Kozhuharov Nikola , Rentsch Katharina , Gualandro Danielle M , Schaerli Nicolas , Stelzig Claudia , Meissner Kathrin , Kulangara Caroline , Hillinger Petra , Grimm Karin , Michou Eleni , Flores Dayana , Czmok Rafael , Osswald Stefan , López Beatriz , Fuenzalida Carolina , Rodriguez Adrada Esther , Ganovská Eva , Lohrmann Jens , Kloos Wanda , Christ Michael , Steude Jana , Fahrni Gregor , Buser Andreas , von Eckardstein Arnold , Morawiec Beata , Nowalany-Kozielska Ewa , Muzyk Piotr 
Published: September 2019

Abstract

BACKGROUND
We aimed to validate the clinical performance of the high-sensitivity cardiac troponin I [VITROS® Immunodiagnostic Products hs Troponin I (hs-cTnI-VITROS)] assay.

METHODS
We enrolled patients presenting to the emergency department with symptoms suggestive of acute myocardial infarction (AMI). Final diagnoses were centrally adjudicated by 2 independent cardiologists considering all clinical information, including cardiac imaging: first, using serial hs-cTnT-Elecsys (primary analysis) and, second, using hs-cTnI-Architect (secondary analysis) measurements in addition to the clinically used (hs)-cTn. hs-cTnI-VITROS was measured at presentation and at 1 h in a blinded fashion. The primary objective was direct comparison of diagnostic accuracy as quantified by the area under the ROC curve (AUC) of hs-cTnI-VITROS vs hs-cTnT-Elecsys and hs-cTnI-Architect, and in a subgroup also hs-cTnI-Centaur and hs-cTnI-Access. Secondary objectives included the derivation and validation of an hs-cTnI-VITROS-0/1-h algorithm.

RESULTS
AMI was the adjudicated final diagnosis in 158 of 1231 (13%) patients. At presentation, the AUC for hs-cTnI-VITROS was 0.95 (95% CI, 0.93–0.96); for hs-cTnT-Elecsys, 0.94 (95% CI, 0.92–0.95); and for hs-cTnI-Architect, 0.92 (95% CI, 0.90–0.94). AUCs for hs-cTnI-Centaur and hs-cTnI-Access were 0.95 (95% CI, 0.94–0.97). Applying the derived hs-cTnI-VITROS-0/1-h algorithm (derivation cohort n = 519) to the validation cohort (n = 520), 53% of patients were ruled out [sensitivity, 100% (95% CI, 94.1–100)] and 14% of patients were ruled in [specificity, 95.6% (95% CI, 93.4–97.2)]. Patients ruled out by the 0/1-h algorithm had a survival rate of 99.8% at 30 days. Findings were confirmed in the secondary analyses using the adjudication including serial measurements of hs-cTnI-Architect.

CONCLUSIONS
The hs-cTnI-VITROS assay has at least comparable diagnostic accuracy with the currently best validated hs-cTnT and hs-cTnI assays.

ClinicalTrials.gov Identifier
NCT00470587.
Analysis of genetic diversity among Iranian populations of Ficus carica L. (Moraceae)
Authors: Zolfaghari M.R. , Salimpour F. , Sharifnia F. , Marandi S.J. 
Published: September 2019

Ficus carica L. is a species of Moraceae family that has been cultivated in different parts of the world from ancient time. Its fruit is eaten by human and has several medicinal properties. This species widely grows and cultivated in various parts of Iran. For this, in the current study, we investigated infraspecific genetic variation and population structure of F. carica in the country. 14 natural populations of F. carica were collected and their genomic DNA were extracted and tested with RAPD molecular technique. Parameters of population’s genetic diversity varied among the studied populations. In addition, AMOVA test revealed significant variations among the populations. The studied populations clustered separately in UPGMA tree of RAPD data, moreover PCA and MDS plots produced similar results. STRUCTURE analysis revealed the best number of k = 9. Based on Nei’s genetic distance, we had nine distinct groups. Genetic clustering patterns according to UPGMA trees of RAPD data and Nei’s genetic distance were more similar with the results of STRUCTURE analysis. The small amount of Nm) the product of the effective size of individual populations (N) and the rate of migration among them (m) (value showed limited gene flow among the studied populations, therefore it seems that high genetic variations among these populations may be related less or few amount of gene exchange among populations.
Radioiodine therapy for Graves' disease as a risk factor of endocrine ophthalmopathy
Authors: Sheremeta M S , Belovalova I M , Sviridenko N Yu 
Published: September 2019

In 1973 and 1976 R. Wasnich and R. Jackson described 2 cases of endocrine ophthalmopathy (EO) that occurred after external irradiation of the anterior surface of the neck due to a tumor (Hodgkin's lymphoma). Further observations showed that treatment of Graves' disease with radioactive iodine (131I) can worsen the course of EO. So, L. De Groot et al., Observing 264 patients after exposure to 131I for Graves' disease, found progression of EO in 4% of patients after the 1st course of therapy and in 12% after subsequent sessions.
L. Bartalena et al. observed the appearance or significant progression of EO in 15% of 150 patients treated with 131I. At the same time, against the background of glucocorticoid therapy, only 10% of patients worsened the course of EO. Other studies have shown that the progression of EO after treatment with 131I without glucocorticoid administration was observed in 18-30% of cases. Along with this, it is believed that 131I does not affect the incidence of clinical symptoms in the orbit, and hypothyroidism that occurs after it does not lead to the progression of eye symptoms. The relationship between treatment and the onset or progression of EO is not clear. Nevertheless, there is evidence of an adverse effect of an elevated level of antibodies to the thyroid stimulating hormone receptor (TSH) in the blood serum after 1131I training for EO.
This review is devoted to a review of the problem presented.