bluuebunny/crossref_metadata_2025_split huggingface dataset:
Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children
Authors: Machiraju Pranav , Degtiarev Vlad , Patel Dhwani , Hazari Hassan , Lowry R. Brian , Bedard Tanya , Sinasac David , Brundler Marie‐Anne , Greenway Steven C. , Khan Aneal 
Published: September 2021

AbstractThe dilated cardiomyopathy with ataxia syndrome (DCMA) is an autosomal recessive mitochondrial disease caused by mutations in the DnaJ heat shock protein family (Hsp40) member C19 (DNAJC19) gene. DCMA or 3‐methylglutaconic aciduria type V is globally rare, but the largest number of patients in the world is found in the Hutterite population of southern Alberta in Canada. We provide an update on phenotypic findings, natural history, pathological findings, and our clinical experience. We analyzed all available records for 43 patients diagnosed with DCMA between 2005 and 2015 at the Alberta Children's Hospital. All patients studied were Hutterite and homozygous for the causative DNAJC19 variant (c.130‐1G>C, IVS3‐1G>C) and had elevated levels of 3‐methyglutaconic acid. We calculated a birth prevalence of 1.54 cases per 1000 total births in the Hutterite community. Children were small for gestational age at birth and frequently required supplemental nutrition (63%) or surgical placement of a gastrostomy tube (35%). Early mortality in this cohort was high (40%) at a median age of 13 months (range 4‐294 months). Congenital anomalies were common as was dilated cardiomyopathy (50%), QT interval prolongation (83%), and developmental delay (95%). Tissue pathology was analyzed in a limited number of patients and demonstrated subendocardial fibrosis in the heart, macrovesicular steatosis and fibrosis in the liver, and structural abnormalities in mitochondria. This report provides clinical details for a cohort of children with DCMA and the first presentation of tissue pathology for this disorder. Despite sharing common genetic etiology and environment, the disease is highly heterogeneous for reasons that are not understood. DCMA is a clinically heterogeneous systemic mitochondrial disease with significant morbidity and mortality that is common in the Hutterite population of southern Alberta.
Improved Assessment of Longitudinal Spinal Cord Atrophy in Multiple Sclerosis Using a Registration‐Based Approach: Relevance for Clinical Studies
Authors: Valsasina Paola , Horsfield Mark A. , Meani Alessandro , Gobbi Claudio , Gallo Antonio , Rocca Maria A. , Filippi Massimo 
Published: September 2021

BackgroundReliable measurements of cervical cord atrophy progression may be useful for monitoring neurodegeneration in multiple sclerosis (MS).PurposeTo compare a new, registration‐based (Reg) method with two existing methods (active surface [AS] and propagation segmentation [PropSeg]) to measure cord atrophy changes over time in MS.Study TypeRetrospective.SubjectsCohort I: Eight healthy controls (HC) and 28 MS patients enrolled at a single institution, and cohort II: 25 HC and 63 MS patients enrolled at three European sites.Field Strength/Sequence3D T1‐weighted gradient echo sequence, acquired at 1.5 T (cohort I) and 3.0 T (cohort II).AssessmentPercentage cord area changes (PCACs) between baseline and follow‐up (cohort I: 2.34 years [interquartile range = 2.00–2.55 years], cohort II: 1.05 years [interquartile range = 1.01–1.18 years]) were evaluated for all subjects using Reg, AS, and PropSeg. Reg included an accurate registration of baseline and follow‐up straightened cord images, followed by AS‐based optimized cord segmentation. A subset of studies was analyzed twice by two observers.Statistical TestsLinear regression models were used to estimate annualized PCAC, and effect sizes expressed as the ratio between the estimated differences and HC error term (P < 0.05). Reproducibility was assessed by linear mixed‐effect models. Annualized PCACs were used for sample size calculations (significance: α = 0.05, power: 1 − β = 0.80).ResultsAnnualized PCACs and related standard errors (SEs) were lower with Reg than with other methods: PCAC in MS patients at 1.5 T was −1.12% (SE = 0.22) with Reg, −1.32% (SE = 0.30) with AS, and −1.40% (SE = 0.33) with PropSeg, while at 3.0 T PCAC was −0.83% (SE = 0.25) with Reg, −0.92% (SE = 0.32) with AS, and −1.18 (SE = 0.53) with PropSeg. This was reflected in larger effect sizes and lower sample sizes. Intra‐ and inter‐observer agreement range was 0.72–0.91 with AS, and it was >0.96 with Reg.Data ConclusionThe results support the use of the registration method to measure cervical cord atrophy progression in future MS clinical studies.Level of Evidence3Technical Efficacy Stage2
Seasonal simulations of summer aerosol optical depth over the Arabian Peninsula using WRF‐Chem: Validation, climatology, and variability
Authors: Karumuri Rama Krishna , Kunchala Ravi Kumar , Attada Raju , Dasari Hari Prasad , Hoteit Ibrahim 
Published: September 2021

AbstractThis study investigates the climatology and variability of summer aerosol optical depth (AOD) over the Arabian Peninsula (AP) using a long‐term high‐resolution Weather Research and Forecasting model coupled with the chemistry module (WRF‐Chem) simulation, available ground‐based and satellite observations, and reanalysis products from 2008 to 2018. The simulated spatial distribution of the summer AOD agrees well with the satellite observations and reanalysis over the AP, with spatial correlation coefficients of 0.81/0.83/0.89 with MODIS‐A/MODIS‐T/MERRA‐2, respectively. Higher values of summertime AOD are broadly found over the eastern AP regions and the southern Red Sea and minima over the northern Red Sea and northwest AP, consistent with observational datasets. The WRF‐Chem simulation suggests that the two regions of high AOD are associated with dust advected from the Tigris–Euphrates by the northwesterly summer Shamal wind in the eastern AP and from the African Sahara via Sudan by westerly winds through the Tokar Gap for the southern AP. The high AOD over the south‐central east AP is due to locally generated dust by the action of northerly winds, modulated by variations in relative humidity, vertical motion, soil moisture, and soil temperature over the desert regions. The vertical extent of this dust is primarily driven by upward motion triggered by thermal convection over the local source region. In terms of interannual variability, summer AOD exhibits significant year‐to‐year variations over the AP region. In particular, enhanced (reduced) AOD over the southern AP (Persian Gulf) is observed during La Niña conditions, favoured by stronger (weaker) Tokar westerly (northwesterly summer Shamal) winds.HighlightsThis study evaluated the long‐term simulations of AOD using high resolution WRF‐Chem model over the AP.WRF‐Chem successfully simulated the summer AOD climatology and its variability.Potential driving factors of summer AOD loading over the AP is explored.Summer AOD variability in the AP is mainly driven by northern Shamal winds and westerly Tokar winds.Enhanced (reduced) AOD over the southern AP (Arabian Gulf) is observed during La Niña conditions.
Incidence and Risk Factors for a Malpositioned Intrauterine Device Detected on Three‐Dimensional Ultrasound Within Eight Weeks of Placement
Authors: Connolly Courtney T. , Fox Nathan S. 
Published: September 2021

ObjectivesTo estimate the incidence of intrauterine device (IUD) malpositioning detected on three‐dimensional (3D) transvaginal ultrasound within 8 weeks of placement and identify risk factors for malpositioning.MethodsRetrospective study of women who had an IUD placed at a large obstetrics and gynecology practice from January 1, 2015, to December 31, 2020. All patients underwent two‐dimensional ultrasound at the time of insertion and routine three‐dimensional ultrasound within 8 weeks. Baseline characteristics and potential risk factors were compared between women with correctly positioned and malpositioned IUDs. Odds ratios were calculated by logistic regression to identify risk factors independently associated with malpositioning.ResultsA total of 763 IUD placements were included, and 127 malpositioned IUDs were identified representing an overall rate of malpositioning of 16.6% (95% confidence interval [CI] 14.0–19.3) with 8.8% (95% CI 6.8–10.8) requiring removal. Patients with malpositioned IUD had higher rates of morbid obesity (13.4% versus 3.8%, adjusted odds ratio [aOR] 2.46, 95% CI 1.10–5.50), prior uterine window or rupture (9.0% versus 2.2%, aOR 2.78, 95% CI 1.06–7.30), copper IUD placement (64.2% versus 47.4%, aOR 1.99, 95% CI 1.31–3.03), and symptoms such as bleeding or pain at follow‐up (35.8% versus 20.1%, aOR 2.58, 95% CI 1.67–3.98). Parity, breastfeeding, difficult insertion, and uterine size and positioning were not significant.ConclusionsThe incidence of malpositioned IUD within 8 weeks of placement on 3D ultrasound is 16.6%, with 8.8% requiring removal. Significant risk factors for malpositioning include morbid obesity, prior uterine window or rupture, and copper IUD placement. These findings support the importance of routine follow‐up 3D ultrasound after seemingly successful IUD placement.
Two novel ectodysplasin A gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia
Authors: Yu Kang , Shen Yihan , Jiang Cai‐Ling , Huang Wei , Wang Feng , Wu Yi‐Qun 
Published: September 2021

AbstractBackgroundHypohidrotic ectodermal dysplasia (HED) is mainly caused by ectodysplasin A (EDA) gene mutation. Fetus with genetic deficiency of EDA can be prenatally corrected. This study aimed at revealing the pathogenesis of two HED families and making a prenatal diagnosis for one pregnant female carrier.DesignsGenomic DNA was extracted from two HED patients and sequenced using whole exome sequencing (WES). The detected mutations were confirmed in patients and family members using Sanger sequencing. The expression of soluble ectodysplasin A1 (EDA1) protein was studied by western blot. The transcriptional activity of NF‐κB pathway was tested by dual luciferase assay. The genomic DNA of fetus was extracted from shed chorion cells and EDA gene was screened through Sanger sequencing.ResultsWe identified two novel EDA mutations: c.1136T>C (p.Phe379Ser) and c.[866G>C;868A>T] (p.[Arg289Pro;Ser290Cys]). Further examinations revealed that these two mutated EDA1 proteins showed completely impaired solubility, and the transcriptional NF‐κB activation induced by these missense mutant‐type EDA1 proteins was significantly reduced compared with wild‐type EDA1. Furthermore, the analysis of amniotic fluid samples from a pregnant heterozygote indicated that the fetus was a c.1136T>C mutation female carrier.ConclusionsThis study extended the mutation spectrum of X‐linked hypohidrotic ectodermal dysplasia (XLHED) and applied prenatal diagnosis for the pregnant carrier, which can be helpful in genetic counseling, prenatal diagnosis, and intervention for the XLHED family.
Experimental acoustic characterization of an endoskeletal antibubble contrast agent: First results
Authors: Panfilova Anastasiia , Chen Peiran , van Sloun Ruud J.G. , Wijkstra Hessel , Postema Michiel , Poortinga Albert T. , Mischi Massimo 
Published: September 2021

AbstractPurposeAn antibubble is an encapsulated gas bubble with an incompressible inclusion inside the gas phase. Current‐generation ultrasound contrast agents are bubble‐based: they contain encapsulated gas bubbles with no inclusions. The objective of this work is to determine the linear and nonlinear responses of an antibubble contrast agent in comparison to two bubble‐based ultrasound contrast agents, that is, reference bubbles and SonoVue.MethodsSide scatter and attenuation of the three contrast agents were measured, using single‐element ultrasound transducers, operating at 1.0, 2.25, and 3.5 MHz. The scatter measurements were performed at acoustic pressures of 200 and 300 kPa for 1.0 MHz, 300 kPa, and 450 kPa for 2.25 MHz, and 370 and 560 kPa for 3.5 MHz. Attenuation measurements were conducted at pressures of 13, 55, and 50 kPa for 1.0, 2.25, and 3.5 MHz, respectively. In addition, a dynamic contrast‐enhanced ultrasound measurement was performed, imaging the contrast agent flow through a vascular phantom with a commercial diagnostic linear array probe.ResultsAntibubbles generated equivalent or stronger harmonic signal, compared to bubble‐based ultrasound contrast agents. The second harmonic side‐scatter amplitude of the antibubble agent was up to 3 dB greater than that of reference bubble agent and up to 4 dB greater than that of SonoVue at the estimated concentration of bubbles/mL. For ultrasound with a center transmit frequency of 1.0 MHz, the attenuation coefficient of the antibubble agent was 8.7 dB/cm, whereas the attenuation coefficient of the reference agent was 7.7 and 0.3 dB/cm for SonoVue. At 2.25 MHz, the attenuation coefficients were 9.7, 3.0, and 0.6 dB/cm, respectively. For 3.5 MHz, they were 4.4, 1.8, and 1.0 dB/cm, respectively. A dynamic contrast‐enhanced ultrasound recording showed the nonlinear signal of the antibubble agent to be 31% greater than for reference bubbles and 23% lower than SonoVue at a high concentration of bubbles/mL.ConclusionEndoskeletal antibubbles generate comparable or greater higher harmonics than reference bubbles and SonoVue. As a result, antibubbles with liquid therapeutic agents inside the gas phase have high potential to become a traceable therapeutic agent.
Impact of early protein provision on the mortality of acute critically ill stroke patients
Authors: Wang Dongmei , Lin Zhenzhou , Xie Ling , Huang Kaibin , Ji Zhong , Gu Chunping , Wang Shengnan 
Published: September 2021

AbstractBackgroundStroke is the leading cause of death in China, and dysphagia is a common symptom of stroke. For acute critically ill stroke patients, whether the protein provision overwhelming calorie provision impacts the outcome still requires investigation.Materials and MethodsWe conducted a retrospectively observational study. Acute stroke patients admitted to our neurocritical care unit between January 2013 and January 2017 were enrolled. Primary end points were short‐term (30‐day) and long‐term (6‐month) mortality, as well as long‐term poor outcome with a modified Rankin scale score ≥4.ResultsOf 208 eligible patients, 127 (61.1%) patients were diagnosed with acute ischemic stroke and 81 (38.9%) with intracranial hemorrhage. In multivariate logistic regression analysis, the increased protein provision was significantly associated with reduced 30‐day and 6‐month mortality (P = .041 and P = .020, respectively) but not 6‐month functional outcome (P = .365), whereas calorie provision had no independent association with either mortality or functional outcome. When the protein provision ≤1.74 g/kg/day, there was a 9.37% decrease in short‐term mortality and a 9.21% decrease in long‐term mortality with each 0.1 g/kg/day increase in protein delivery. The patients were further divided into five subgroups based on the amount of protein provision, and Linear‐by‐Linear Association tests showed there was a negative linear relationship between the protein provision and 30‐day and 6‐month mortality (P = .048 and P = .017, respectively).ConclusionsEarly protein provision during the first week is an independent predictor of short‐term and long‐term mortality in acute critically ill stroke patients.
Intimate partner violence among Jordanian pregnant women and its predictors
Authors: Abujilban Sanaa , Mrayan Lina , Damra Jalal K. 
Published: September 2021

AbstractAimTo determine and compare the level of prevalence of intimate partner violence (IPV) at 12 months before pregnancy and during pregnancy and to identify the predictors of physical IPV.DesignA cross‐sectional, correlational design was used for data collection and analysis.MethodsConvenience sampling was used to recruit 247 women for the study. The women's IPV experience was measured by the Arabic version of the World Health Organization's Domestic Violence Questionnaire Screening Tool.ResultsThe women reported that they experienced substantial levels of different types of IPV during pregnancy: 93.1% control, 66% psychological, 31.2% physical and 8.9% sexual. The levels of psychological, physical and sexual IPV during pregnancy were statistically significantly lower than those before pregnancy. In the case of physical IPV, women's age and verbal fighting were independent positive predictors, while women's educational level, husbands' educational level and level of mutual understanding were independent negative predictors. It is therefore recommended that policymakers focus on providing marital advice and marriage counselling and on empowering women by education in order to tackle IPV during pregnancy.
Mattering perception, work engagement and its relation to burnout amongst nurses during coronavirus outbreak
Authors: Mohamed Salwa Ahmed , Hendy Abdelaziz , Ezzat Mahmoud Omaima , Mohamed Mohamed Sayeda 
Published: September 2021

AbstractAimTo assess the mattering perception, feelings of burnout and work engagement amongst nurses during coronavirus outbreak.DesignCross‐sectional research design.MethodsIt conducted at Zagazig fever hospital and chest hospital on 280 nurses. A self‐administered questionnaire containing four parts; characteristics, mattering at Work Scale, Burnout scale and Engagement scale.ResultsThe present study reported that more than half of studied nurses had moderate mattering level and more than one‐quarter of them had low mattering. More than two‐fifth of studied nurses had moderate level and slight less than one‐third of them had low engagement. More than two‐fifth of studied nurses had moderate level of burnout, whilst slight less than one‐third of them had high burnout, and one‐quarter of them had low burnout.
Bone marrow adipose tissue content in Latino adolescents with prediabetes and obesity
Authors: Vander Wyst Kiley B. , Hu Houchun H. , Peña Armando , Olson Micah L. , Bailey Smita S. , Shaibi Gabriel Q. 
Published: September 2021

AbstractObjectiveThis study aimed to examine whether total, regional, and organ fat predicts bone marrow adipose tissue (BMAT) fat content and to explore whether BMAT fat content differs by sex among Latino youth.MethodsLatino youth (n = 86; age 13.6 [1.4] years, 62% male) with obesity (BMI percentile = 98.5% [1.2%]) underwent a dual‐energy x‐ray absorptiometry scan to assess body composition and a magnetic resonance imaging scan to determine abdominal adiposity, liver fat, and vertebral BMAT fat content in the thoracic (average of T8‐T12) and lumbar (average of L1‐L5) spine.ResultsMale youth exhibited significantly greater thoracic (male youth = 30.8% [1.4%] vs. female youth = 24.5% [2.1%], p = 0.027) and lumbar (male youth = 36.3% [1.5%] vs. female youth = 30.2% [2.2%], p = 0.038) BMAT fat content compared with female youth. Visceral adipose tissue was a significant predictor of thoracic (β = 0.434, t[86] = 3.016, p = 0.003) and lumbar (β = 0.389, t[86] = 2.677, p = 0.009) BMAT fat content, explaining 8.9% and 6.9% of the variance, respectively. Liver fat was a significant predictor of both thoracic (β = 0.487, t[86] = 4.334, p < 0.001) and lumbar (β = 0.436, t[86] = 3.793, p < 0.001) BMAT fat content, explaining 17.6% and 13.8% of the variance, respectively.ConclusionsMale youth had significantly greater thoracic and lumbar BMAT fat content than female youth. Greater BMAT fat content is associated with greater liver fat and visceral adipose tissue among youth with obesity. Further investigation of the mechanistic underpinnings of BMAT may help to differentiate its metabolic and bone‐related functions.
Use of evidence for decision‐making by conservation practitioners in the illegal wildlife trade
Authors: Arias Melissa , Hinsley Amy , Milner‐Gulland E. J. 
Published: September 2021

Abstract

There are calls to ground policies aimed at addressing the illegal wildlife trade (IWT), and biodiversity conservation more generally, on the best available evidence. However, evidence on IWT can be highly uncertain and difficult to obtain due to the illegal nature of the trade. Even when the evidence exists, there are numerous barriers to its uptake by decision makers, pertaining to the evidence itself and to the characteristics and contexts of those using it.

The surfacing of the illegal trade in jaguars Panthera onca provides an example of how evidence is, and is not, used for decision‐making on IWT. We interviewed 38 conservation practitioners in Belize, Guatemala and Honduras, who had knowledge about, or experience dealing with, illegal jaguar trade. Interviewees described their information sources and decision‐making processes, and explicitly and implicitly prioritized jaguar trade evidence, based on attributes like the evidence's source, the scale and purpose of the trade, its temporal and spatial dimensions and the nationality of offenders.

Even though interviewees stated that they use scientific evidence to make decisions, they gave more weight to evidence involving foreign actors and commercial purposes than local and non‐commercial ones, paying less attention to the potential impact on jaguars or the source of the information. They were also more inclined to favour events that were spatially and temporally closer to their own reality. Our results show that the interpretation and uptake of evidence are subject to contextual constraints and personal biases, which are common across fields and sectors, even amongst experienced decision makers.

We propose an approach for evaluating evidence and informing decision‐making within IWT and biodiversity conservation. Our approach aims to guide conservation decision makers and practitioners to assess the relevance and uncertainty of the evidence, to recognize their own interpretation biases, to identify the actions that are appropriate based on the evidence and to improve the transparency of their decisions. It can also guide evidence ‘producers’ to develop evidence that is more aligned to conservation policy and practice.

This approach can contribute towards more evidence‐based practice within the field of biodiversity conservation, with applications to IWT and beyond.

A free Plain Language Summary can be found within the Supporting Information of this article.
Nasopharyngeal carcinoma in children: Multimodal treatment and long‐term outcome of 92 patients in a single center over a 28‐year period
Authors: Kebudi Rejin , Buyukkapu Sema Bay , Gorgun Omer , Ozkaya Kübra , Meral Rasim , Ayan Inci , Altun Musa 
Published: September 2021

AbstractObjectivesThe aim of the study was to evaluate the long‐term outcome and late effects in pediatric patients with nasopharyngeal carcinoma (NPC) treated with neoadjuvant chemotherapy (NACT), followed by radiotherapy (RT).MethodsNinety‐two children (65 male, 27 female) diagnosed with NPC between 1989 and 2017 in the Istanbul University, Institute of Oncology were evaluated retrospectively. NACT consisted of three cycles of cisplatin‐containing regimen every 3 weeks, followed by RT.ResultsThe median age was 13 years (5–18 years). Most had locoregionally advanced disease (stage III/IVA/IVB) and five had distant metastases at presentation. At a median follow‐up of 108 months (3–332 months), 5‐ and 10‐year overall survival rates and event‐free survival rates were 87.5%, 79.7% and 82.1%, 78.9%, respectively. Three patients with distant metastasis are long‐term survivors. Thirteen patients relapsed at a median of 8 months (2–23 months). Hypothyroidism (36%) and xerostomia (25%) were the most frequent long‐term treatment‐related toxicities. Nine second malignancies developed in eight patients, eight in the irradiated field at a median of 14 years (range 5–26 years), five of whom are long‐term survivors after curative surgery.ConclusionsThree courses of cisplatin‐containing NACT, followed by RT lead to high survival and locoregional control rate in advanced stage NPC in children. Patients with distant metastasis should also be treated with curative intent by systemic chemotherapy and locoregional radiotherapy. Patients should be followed closely for recurrences and long‐term morbidities including second malignancies, which may be treated with curative surgeries if diagnosed early.