bluuebunny/crossref_metadata_2025_split huggingface dataset:
Is Physiological Equivalent Temperature (PET) a superior screening tool for heat stress risk than Wet-Bulb Globe Temperature (WBGT) index? Eight years of data from the Gothenburg half marathon
Authors: Thorsson Sofia , Rayner David , Palm Gunnar , Lindberg Fredrik , Carlström Eric , Börjesson Mats , Nilson Finn , Khorram-Manesh Amir , Holmer Björn 
Published: May 2020

BackgroundThe Wet-Bulb Globe Temperature (WBGT) index is a common tool to screen for heat stress for sporting events. However, the index has a number of limitations. Rational indices, such as the physiological equivalent temperature (PET) and Universal Thermal Climate Index (UTCI), are potential alternatives.AimTo identify the thermal index that best predicts ambulance-required assistances and collapses during a city half marathon.MethodsEight years (2010–2017) of meteorological and ambulance transport data, including medical records, from Gothenburg’s half-marathon were used to analyse associations between WBGT, PET and UTCI and the rates of ambulance-required assistances and collapses. All associations were evaluated by Monte-Carlo simulations and leave-one-out-cross-validation.ResultsThe PET index showed the strongest correlation with both the rate of ambulance-required assistances (R2=0.72, p=0.008) and collapses (R2=0.71, p=0.008), followed by the UTCI (R2=0.64, p=0.017; R2=0.64, p=0.017) whereas the WBGT index showed substantially poorer correlations (R2=0.56, p=0.031; R2=0.56, p=0.033). PET stages of stress, match the rates of collapses better that the WBGT flag colour warning. Compared with the PET, the WBGT underestimates heat stress, especially at high radiant heat load. The rate of collapses increases with increasing heat stress; large increase from the day before the race seems to have an impact of the rate of collapses.ConclusionWe contend that the PET is a better predictor of collapses during a half marathon than the WBGT. We call for further investigation of PET as a screening tool alongside WBGT.
Analysis of genotype–phenotype correlations in PAX6-associated aniridia
Authors: Vasilyeva Tatyana A. , Marakhonov Andrey V. , Voskresenskaya Anna A. , Kadyshev Vitaly V. , Käsmann-Kellner Barbara , Sukhanova Natella V. , Katargina Lyudmila A. , Kutsev Sergey I. , Zinchenko Rena A. 
Published: May 2020

BackgroundAniridia is a severe autosomal dominant panocular disorder associated with pathogenic sequence variants of the PAX6 gene or 11p13 chromosomal aberrations encompassing the coding and/or regulatory regions of the PAX6 gene in a heterozygous state. Patients with aniridia display several ocular anomalies including foveal hypoplasia, cataract, keratopathy, and glaucoma, which can vary in severity and combination.MethodsA cohort of 155 patients from 125 unrelated families with identified point PAX6 pathogenic variants (118 patients) or large chromosomal 11p13 deletions (37 patients) was analyzed. Genetic causes were divided into 6 types. The occurrence of 6 aniridic eye anomalies was analyzed. Fisher’s exact test was applied for 2×2 contingency tables assigning numbers of patients with/without each sign and each type of the PAX6 variants or 11p13 deletions with Benjamini–Hochberg correction. The age of patients with different types of mutation did not differ.ResultsPatients with 3′-cis-regulatory region deletions had a milder aniridia phenotype without keratopathy, nystagmus, or foveal hypoplasia. The phenotypes of the patients with other rearrangements involving 11p13 do not significantly differ from those associated with point pathogenic variants in the PAX6 gene. Missense mutations and genetic variants disrupting splicing are associated with a severe aniridia phenotype and resemble loss-of-function mutations. It is particularly important that in all examined patients, PAX6 mutations were found to be associated with multiple eye malformations. The age of patients with keratopathy, cataract, and glaucoma was significantly higher than the age of patients without these signs.ConclusionWe got clear statistically significant genotype-phenotype correlations in congenital aniridia and evident that aniridia severity indeed had worsened with age.
Arterial complications in classical Ehlers-Danlos syndrome: a case series
Authors: Angwin Chloe , Brady Angela F , Pope F Michael , Vandersteen Anthony , Baker Duncan , Cheema Harveer , Sobey Glenda , Johnson Diana , von Klemperer Kate , Kazkaz Hanadi , van Dijk Fleur , Ghali Neeti 
Published: May 2020

BackgroundThe Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders with several recognised types. Patients with a type of EDS have connective tissue abnormalities resulting in a varying degree of joint hypermobility, skin and vascular fragility and generalised tissue friability. Classical EDS (cEDS) typically occurs as a result of dominant pathogenic variants in COL5A1 or COL5A2. The cardinal features of cEDS are hyperextensible skin, atrophic scarring and joint hypermobility. Arterial complications are more characteristically a feature of vascular EDS although individual cases of arterial events in cEDS have been reported.MethodsA cohort of 154 patients with a clinical diagnosis of cEDS from the UK was analysed.ResultsSeven patients (4.5%) with a diagnosis of cEDS (four pathogenic, one likely pathogenic and two variants of uncertain significance in COL5A1) who had experienced arterial complications were identified. Arterial complications mostly involved medium-sized vessels and also two abdominal aortic aneurysms. No unique clinical features were identified in this group of patients.ConclusionThere is a possible increased risk of arterial complications in patients with cEDS, although not well-defined. Clinicians need to be aware of this possibility when presented with a patient with an arterial complication and features of cEDS. Long-term management in families with cEDS and a vascular complication should be individually tailored to the patient’s history and their family’s history of vascular events.
Prevalence ofBRCA1/BRCA2pathogenic variation in Chinese Han population
Authors: Dong Hui , Chandratre Khyati , Qin Yue , Zhang Jing , Tian Xiaoqing , Rong Ce , Wang Ning , Guo Maoni , Zhao Guoping , Wang San Ming 
Published: May 2020

BackgroundPathogenic variation inBRCA1andBRCA2(BRCA) is one of the most frequent genetic predispositions for hereditary breast cancer. The identification of the variant carriers plays an important role in prevention and treatment of cancer. Despite a population size of 1.4 billion and a quarter million annual new breast cancer cases, knowledge regarding the prevalence ofBRCAvariation in the Chinese population remains elusive.MethodsIn this study, we usedBRCA-targeted sequencing and bioinformatics approaches to screen forBRCAvariants in 11 386 Chinese Han individuals, including 9331 females and 2055 males.ResultsWe identified 1209BRCAvariants, 34 of which were pathogenic, including 11 inBRCA1and 23 inBRCA2. These variants were distributed among 43 individuals (37 females and 6 males), with 13 carryingBRCA1and 30 carryingBRCA2variants. Based on these data, we determined a prevalence of 0.38%, or 1 carrier of aBRCApathogenic variant out of every 265 Chinese Han individuals, and 5.1 million carriers among the Chinese Han population of 1.3 billion.ConclusionOur study provides basic knowledge about the prevalence ofBRCApathogenic variation in the Chinese Han population. This information should be valuable forBRCA-related cancer prevention and treatment in the population.
Colorectal Neoplasia among Patients with and without Human Immunodeficiency Virus
Authors: Faqih Adil , Singal Amit G. , Fullington Hannah M. , Hewitt Benjamin , Burstein Ezra , Gopal Purva , Wylie Annika , Abrams John , Murphy Caitlin C. 
Published: May 2020

Abstract

Background:
Increasing availability of highly active antiretroviral therapy (HAART) for human immunodeficiency virus (HIV) has led to prolonged survival and rising incidence of non-HIV–defining cancers among patients with HIV. Compared with the general population, risk of colorectal cancer may differ among those with HIV due to immunosuppression, oncogenic viral coinfections, and higher prevalence of risk factors.

Methods:
We identified patients (age ≥50 years) diagnosed with HIV, prescribed HAART for ≥6 months, and receiving care in two large health care systems in Dallas, TX. Patients received a first colonoscopy between January 2009 and December 2017. We calculated a standardized prevalence ratio as the ratio of observed to expected number of advanced neoplasia (high-risk adenoma or colorectal cancer) using an age- and sex-matched cohort of patients without HIV (n = 10,250).

Results:
Among patients with HIV (n = 839), about two thirds (60.1%) had normal findings at colonoscopy; 6.8% had hyperplastic polyps only, 20.4% had low-risk adenomas, 11.7% had high-risk adenomas, and 1.1% had colorectal cancer. Prevalence of advanced neoplasia was similar between patients with and without HIV, with a standardized prevalence ratio of 0.99 (95% confidence interval, 0.81–1.19).

Conclusions:
There was no difference in the prevalence of colorectal neoplasia between patients with and without HIV.

Impact:
Patients with HIV appear to have similar risk of colorectal neoplasia compared to those without HIV and can therefore follow average-risk colorectal cancer screening guidelines.
Catch Neuter Release and Pet Overpopulation Management in Southern Italy
Authors: Friz Dorothea 
Published: May 2020

Abstract
A stray dog problem is not necessarily due to animals not owned. In fact, it can be caused by owned dogs allowed to roam and reproduce freely around the whole territory. And if the authorities limit themselves to the policy of catching the dogs and keeping them in shelters, the problem will never be solved. Instead, the shelters will soon be very overcrowded, with tremendous animal welfare issues for the imprisoned animals and at a very high cost for the public. Spay/neuter and return projects will instead reduce the number of dogs in the territory and are an essential way of keeping constant control. This is what my experience in Southern Italy taught me.
Congenital Heart Disease in Patients With Cleft Lip/Palate and Its Impact on Cleft Management
Authors: Azadgoli Beina , Munabi Naikhoba C. O. , Fahradyan Artur , Auslander Allyn , McCullough Meghan , Aflatooni Nikki , Davidson Ward Sally L. , Kumar S. Ram , Sanchez-Lara Pedro A. , Swanson Jordan , Magee William P. 
Published: May 2020

Objective: To evaluate characteristics of congenital heart disease (CHD) in patients with cleft lip and/or palate (CL/P) and assess potential associations with cleft outcomes. Design: Retrospective review of all patients with CL/P who underwent primary cleft treatment from 2009 to 2015. Setting: Children’s Hospital Los Angeles, a tertiary hospital. Patients: Exclusion criteria included microform cleft lip diagnosis, international patients, and patients presenting for secondary repair or revision after primary repair at another institution. Main Outcomes Measured: Patient demographics, prenatal and birth characteristics, CL/P characteristics, syndromic status, postoperative complications, and other outcomes were analyzed relative to CHD diagnoses and management. Patients with CL/P with (+CHD) were compared to those without (−CHD) CHD using χ2 tests and analysis of variance. Results: Among 575 patients with CL/P, 83 (14.4%) had CHD. Congenital heart disease rates were significantly higher in patients with cleft palate (CP) compared to other cleft types (χ2, P = .009). Eighty-one (97.6%) out of 83 +CHD patients were diagnosed prior to initial CL/P surgical assessment. Twenty-three (27.7%) +CHD patients required surgical repair of 10 cardiac anomalies prior to cleft care. Congenital heart disease was associated with delayed CP repair and increased rates of fistula in isolated patients with CP. Conclusions: Congenital heart disease is known to be more prevalent in patients with CL/P. These data suggest the condition is particularly increased in patients with CP. Severe forms of CHD are diagnosed and treated prior to cleft care however postoperative fistula may be more common in patients with CHD. Therefore, careful attention is required for patient optimization and palatal flap dissection in patients with coexisting CHD and CL/P.
Determinants of national drug products acceptance across patients, pharmacists, and manufacturers: A mixed method study
Authors: Ahmed Kawther Khalid , Al-Jumaili Ali Azeez , Mutlak Shihab Hattab , Hadi Mohammed Kamel 
Published: May 2020

Introduction The national pharmaceutical industry is pivotal for both the health sector and the national economy. This study aims to identify determinants of national drug products acceptance. The objectives of this study were to quantitatively measure the level of patient and community pharmacist acceptance of national drug products available in community pharmacies and to qualitatively explore the barriers facing national pharmaceutical companies and investigate the suggested solutions. Methods This cross-sectional study used an explanatory mixed method design. It was conducted in Baghdad, Iraq from July through October 2018. The study included two surveys (one for pharmacy customers and another for pharmacists) and thereafter semi-structured interviews of national pharmaceutical company owners/managers. The interview guide was developed based on preliminary quantitative results. Thematic analysis was used to analyze the interview findings. Results We received 123 patient surveys and 125 usable pharmacist surveys. We conducted seven interviews and stopped when we reached saturation. Integrated qualitative and quantitative findings showed that the main determinants of national drug product acceptance are product characteristics (namely price, packaging, brand, and availability), healthcare providers effect on product promotion and perceived effectiveness, and regulations enforced by authorities mainly the Ministry of Health. Conclusions Product price was the number one modulating factor in patient decision-making when purchasing a drug product. It appears that physicians and pharmacists are playing negative or at least neutral role in promoting national drug products and sustaining patients trust in national drug products. Current policies appeared to slow national drug industry growth and limit manufacturers’ ability to expand their share in the market. Manufacturer marketing efforts can help in gaining physicians and pharmacists support of the national drug product. Reforms to current drug policy and regulations were proposed by manufacturers.
The metabolic profiles of different fiber type populations under the emergence of the slow component of oxygen uptake
Authors: Conde Alonso Sonia , Gajanand Trishan , Ramos Joyce S. , Antonietti Jean-Philippe , Borrani Fabio 
Published: May 2020

AbstractTo investigate the influence of different metabolic muscle fiber profiles on the emergence of the slow component of oxygen uptake ($${\dot{\text{V}}\text{O}}_{2}$$V˙O2SC), 12 habitually active males completed four sessions of different combinations of work-to-work transition exercises up to severe intensity. Each transition was modeled to analyze the different kinetic parameters. Using a new approach, combining Henneman’s principle and superposition principle, a reconstructed kinetics was built by temporally aligning the start of each new transition and summing them. The primary phase time constant significantly slowed and the gain at the end (GainEnd) significantly increased when transitions started from a higher intensity (p < 0.001). Kinetic parameters from the reconstructed curve ($${\dot{\text{V}}\text{O}}_{2} {\text{baseline}}$$V˙O2baseline, time delay of primary phase, $${\dot{\text{V}}\text{O}}_{2}$$V˙O2End and GainEnd) were not significantly different from one transition to severe exercise. These results suggest that the appearance of the $${\dot{\text{V}}\text{O}}_{2}$$V˙O2SC is at least related to, if not the result of, the different metabolic properties of muscle fibers.
Effect of baseline cognitive impairment on association between predicted propofol effect site concentration and Bispectral index or sedation score
Authors: Sieber Frederick , Neufeld Karin , Oh Esther S. , Gottschalk Allan , Wang Nae-Yuh 
Published: May 2020

Abstract
Background
This study determined whether the relationship between predicted propofol effect site concentration (Ce) and observer’s assessment of alertness/sedation scale (OAA/S) or Bispectral Index (BIS) was similar comparing cognitively intact vs impaired patients undergoing hip fracture repair with spinal anesthesia and sedation.

Methods
Following informed consent baseline mini-mental status exam (MMSE), Clinical Dementia Rating (CDR) and geriatric depression scale (GDS) were obtained. Intraoperatively OAA/S, BIS, and propofol (timing and exact amounts) administered were recorded. Cerebrospinal fluid was collected for Alzheimer’s (AD) biomarkers. Mean Ce level (AvgCe) during surgery was calculated using the area under the Ce measurement series from incision to closure, divided by surgical time. Average OAA/S (AvgOAA/S), and BIS (AvgBIS) were similarly calculated. Pearson correlations of AvgCe with AvgOAA/S and AvgBIS were calculated overall and by CDR. Nonparametric locally weighted scatterplot smoothing (LOWESS) fits of AvgOAA/S and AvgBIS on AvgCe were produced, stratified by CDR. Multivariable regression incorporating baseline cognitive measurements or AD biomarkers assessed AvgOAA/S or AvgBIS associations with AvgCe.

Results
In 186 participants AvgBIS and AvgOAA/S correlated with AvgCe (Pearson ρ = − 0.72; p < 0.0001 and Pearson ρ = − 0.81; p < 0.0001, respectively), and remained unchanged across CDR levels. Association patterns of AvgOAA/S or AvgBIS on AvgCe guided by LOWESS fits and modeled through regression, were similar when stratified by CDR (p = 0.16). Multivariable modeling found no independent effect on AvgBIS or AvgOAA/S by MMSE, CDR, GDS, or AD biomarkers after accounting for AvgCe.

Conclusions
When administering sedation in conjunction with spinal anesthesia, cognitive impairment does not affect the relationship between predicted propofol AvgCe and AvgOAA/S or AvgBIS.
A typology of useful evidence: approaches to increase the practical value of intervention research
Authors: Hasson Henna , Leviton Laura , von Thiele Schwarz Ulrica 
Published: May 2020

Abstract
Background
Too often, studies of evidence-based interventions (EBIs) in preventive, community, and health care are not sufficiently useful to end users (typically practitioners, patients, policymakers, or other researchers). The ways in which intervention studies are conventionally conducted and reported mean that there is often a shortage of information when an EBI is used in practice.
The paper aims to invite the research community to consider ways to optimize not only the trustworthiness but also the research’s usefulness in intervention studies. This is done by proposing a typology that provides some approaches to useful EBIs for intervention researchers. The approaches originate from different research fields and are summarized to highlight their potential benefits from a usefulness perspective.

Main message
The typology consists of research approaches to increase the usefulness of EBIs by improving the reporting of four features in intervention studies: (1) the interventions themselves, including core components and appropriate adaptations; (2) strategies to support–high-quality implementation of the interventions; (3) generalizations about the evidence in a variety of contexts; and (4) outcomes based on end users’ preferences and knowledge. The research approaches fall into three levels: Description, Analysis, and Design. The first level, Description, outlines what types of information about the intervention and its implementation, context, and outcomes can be helpful for end users. Research approaches under analysis offers alternative ways of analyzing data, increasing the precision of information provided to end users. Approaches summarized under design involve more radical changes and far-reaching implications for how research can provide more useful information. These approaches partly flip the order of efficacy and effectiveness, focusing not on whether an intervention works in highly controlled and optimal circumstances, but first and foremost whether an intervention can be implemented and lead to anticipated outcomes in everyday practice.

Conclusions
The research community, as well as the end users of research, are invited to consider ways to optimize research’s usefulness as well as its trustworthiness. Many of the research approaches in the typology are not new, and their contributions to quality have been described for generations – but their contributions to useful knowledge need more attention.
Docosahexaenoic acid in ARSACS: observations in two patients
Authors: Ricca Ivana , Tessa Alessandra , Trovato Rosanna , Bacci Giacomo Maria , Santorelli Filippo Maria 
Published: May 2020

Abstract
Background
Spastic ataxia of Charlevoix-Saguenay is a neurodegenerative condition due to mutations in the SACS gene and without a cure. Attempts to treatments are scarce and limited to symptomatic drugs.

Case presentation
Two siblings harboring biallelic variants in SACS underwent oral supplementation (600 mg/die) with docosahexaenoic acid (DHA), a well-tolerated dietary supplement currently used in SCA38 patients. We assessed over a 20 month-period clinical progression using disease-specific rating scales.

Conclusions
DHA was safe over a long period and well-tolerated by the two patients; both showed a stabilization of clinical symptoms, rather than the expected deterioration, warranting additional investigations in patients with mutations in SACS.
Diacylglycerol-evoked activation of PKC and PKD isoforms in regulation of glucose and lipid metabolism: a review
Authors: Kolczynska Katarzyna , Loza-Valdes Angel , Hawro Izabela , Sumara Grzegorz 
Published: May 2020

AbstractProtein kinase C (PKC) and Protein kinase D (PKD) isoforms can sense diacylglycerol (DAG) generated in the different cellular compartments in various physiological processes. DAG accumulates in multiple organs of the obese subjects, which leads to the disruption of metabolic homeostasis and the development of diabetes as well as associated diseases. Multiple studies proved that aberrant activation of PKCs and PKDs contributes to the development of metabolic diseases. DAG-sensing PKC and PKD isoforms play a crucial role in the regulation of metabolic homeostasis and therefore might serve as targets for the treatment of metabolic disorders such as obesity and diabetes.