bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review
Authors: Chu Yung-Tsai , Lin Han-Yi , Chen Pei-Lung , Lin Chin-Hsien 
Published: March 2020

Abstract
Background
Phospholipase A2 group VI (PLA2G6) mutations associated with neurodegeneration (PLAN) manifest as heterogeneous neurodegenerative disorders with variable ages of onset. The genotype-phenotype correlation is not well-established. We aim to describe three adult patients with PLAN and combined these data with results from previous studies to elucidate adult-onset PLA2G6 phenotype-genotype correlations.

Case presentations
The first index patient presented with dystonia-parkinsonism starting at age 31 years, accompanied by major depression and cognitive decline. Genetic analysis using targeted next generation sequencing (NGS) panel, Sanger sequencing, and segregation analyses revealed a compound heterozygous mutation, c.991G > T (p.D331Y)/c.1077G > A (M358IfsX), in PLA2G6. The other two patients had levodopa-responsive, early-onset parkinsonism, starting in their late twenties. Both patients had homozygous c.991G > T (p.D331Y) mutations in PLA2G6. Patient characteristics of our reported 3 cases were compared to those of 32 previously described (2008 to 2019) patients with adult-onset PLAN. Among the combined cohort of 35 patients with adult-onset PLAN, 14 had dystonia-parkinsonism, 17 had early-onset Parkinson’s disease, 3 had hereditary spastic paraparesis, and one had ataxia. The c.991G > T (p. D331Y) mutation was almost exclusively found in Chinese patients, suggesting a common founder effect. All patients with homozygous p.D331Y mutations had levodopa-responsive, early-onset PD (100%); while other mutations mostly led to dystonia-parkinsonism, ataxia, spasticity, and combine psychiatric comorbidities.

Conclusions
We showed that adult-onset PLAN could present as purely parkinsonism features, without brain iron accumulation, particularly patients with homozygous p.D331Y mutations. Compound heterozygous mutations, including heterozygous p.D331Y, produced heterogeneous phenotypes, without obvious levodopa responsiveness.
Evaluation of decision to delivery time interval and its effect on feto-maternal outcomes and associated factors in category-1 emergency caesarean section deliveries: prospective cohort study
Authors: Temesgen Mamaru Mollalign , Gebregzi Amare Hailekirose , Kasahun Habtamu Getinet , Ahmed Seid Adem , Woldegerima Yophtahe Berhe 
Published: March 2020

Abstract
Background
Category-1 emergency caesarean section delivery is the commonly performed surgical procedure in pregnant women associated with significant mortality and morbidity both in the mother and fetus. The decision to delivery time interval is recommended to be less than 30 min by the Royal College of Obstetricians and Gynecologists as well as the American College of Obstetricians and Gynecologists. This study was designed to evaluate the decision to delivery time interval and its effect on feto-maternal outcomes and the associated factors during category-1 emergency caesarean section deliveries.

Method
A prospective observational cohort study was conducted from March to May 2018 at the University of Gondar Comprehensive Specialized Hospital obstetrics Operation Theater and postnatal ward. A total of 163 clients who were undergone category-1 emergency caesarean section were included in this study. Statistical analysis was performed using SPSS version 20 (IBM Corporate). Bivariate and multivariate logistic regression with a 95% confidence interval was used to determine the association of decision to delivery time interval with predictor variables and feto-maternal outcomes.

Results
Only 19.6% of women had a decision to delivery time interval below 30 min. The average decision to delivery time interval was 42 ± 21.4 min, the average time from the decision of category-1 emergency caesarean section arrival to the operation theater was 21.58 ± 19.76 min and from theater to delivery of anesthesia was 11.5 ± 3.6 min. Factors that were associated with prolonged decision to delivery time interval were: time taken to collect surgical materials (AOR = 13.76, CI = 1.12–168.7), time taken from decision and arrival to the operation theater (AOR = 0.75, CI = 0.17–3.25) and time taken from arrival at the operation theater to the immediate start of skin incision (AOR = 0.43, CI = 0.28–0.65).

Conclusion
Delivery was not achieved within the recommended time interval in the majority of category-1 emergency caesarean sections. The average decision to delivery time interval was longer than the recommended time but it did not affect feto-maternal outcomes.
Post-traumatic stress disorder and association with low birth weight in displaced population following conflict in Malakand division, Pakistan: a case control study
Authors: Rashid Haroon Ur , Khan Muhammad Naseem , Imtiaz Ayesha , Ullah Naeem , Dherani Mukesh , Rahman Atif 
Published: March 2020

Abstract
Background
The northern part of the province of Khyber Pakhtunkhwa in Pakistan experienced armed conflict since September 2007 till the autumn of 2011. Conflict involved widespread insurgency activity and military intervention including in 2009 internally displacing the 2.5 million people of the valley of Swat to live in camps, with relatives, or in rented accommodation across the region for approximately 4 months. It was during this period the current study was conducted to determine whether Post-Traumatic Stress Disorder in pregnant women was independently associated with Low Birth Weight (LBW) in an area affected by conflict and militancy.

Methods
A case control study was conducted in tertiary care hospitals of district Peshawar, Khyber Pakhtunkhwa. Two hundred twenty-five cases (neonates with birth weight <  2.5 kg) and 225 controls (neonates with birth weight of > 2.5 kg) were enrolled within 24 h of delivery. Post-Traumatic Stress Disorder was assessed through the MINI Neuropsychiatric Interview 5.0, a validated questionnaire along with the birth weight of the newborn. Maternal anthropometry, anemia and other sociodemographic details were also obtained during data collection. Data was analyzed using statistical package (STATA version 14). Logistic regression analysis of the association between LBW and all variables collected with a p-value of < 0.25 on uni-variate analysis were entered.

Results
A total of 450 newborn and mother pairs participated in the study with 225 cases and 225 controls. On univariate analysis factors significantly associated with LBW include: less than 5 years of paternal schooling and PTSD. On logistic regression, PTSD was independently associated with low birth weight in the presence of other factors like maternal/paternal schooling, gravida, history of preterm, BMI of the mother and maternal anemia.

Conclusion
PTSD was found to be independently associated with LBW. In light of the current findings and other similar literature, intervention programs should be considered for pregnant women exposed to traumatic events.
Guy’s cancer cohort – real world evidence for cancer pathways
Authors: Moss C. , Haire A. , Cahill F. , Enting D. , Hughes S. , Smith D. , Sawyer E. , Davies A. , Zylstra J. , Haire K. , Rigg A. , Van Hemelrijck M. 
Published: March 2020

Abstract
Background
The burden of disease due to cancer remains substantial. Since the value of real-world evidence has also been recognised by regulatory agencies, we established a Research Ethics Committee (REC) approved research database for cancer patients (Reference: 18/NW/0297).

Construction and content
Guy’s Cancer Cohort introduces the concept of opt-out consent processes for research in a subset of oncology patients diagnosed and treated at a large NHS Trust in the UK. From April 2016 until March 2017, 1388 eligible patients visited Guy’s and St Thomas’ NHS Foundation Trust (GSTT) for breast cancer management. For urological cancers this number was 1757 and for lung cancer 677. The Cohort consists of a large repository of routinely collected clinical data recorded both retrospectively and prospectively. The database contains detailed clinical information collected at various timepoints across the treatment pathway inclusive of diagnostic data, and data on disease progression, recurrence and survival.

Conclusions
Guy’s Cancer Cohort provides a valuable infrastructure to answer a wide variety of research questions of a clinical, mechanistic, and supportive care nature. Clinical research using this database will result in improved patient safety and experience. Guy’s Cancer Cohort promotes collaborative research and will accept applications for the release of anonymised datasets for research purposes.
COPe-support - a multi-component digital intervention for family carers for people affected by psychosis: study protocol for a randomized controlled trial
Authors: Sin Jacqueline , Henderson Claire , Cornelius Victoria , Chen Tao , Elkes Jack , Woodham Luke A. , Hernández Aurora Sesé , Spence-Polin Dominique , Batchelor Rachel , Gillard Steve 
Published: March 2020

Abstract
Background
Psychosis often causes significant distress and impacts not only in the individuals, but also those close to them. Many relatives and friends (‘carers’) provide long-term support and need resources to assist them. We have co-produced a digital mental health intervention called COPe-support (Carers fOr People with Psychosis e-support) to provide carers with flexible access to high quality psychoeducation and interactive support from experts and peers. This study evaluates the effectiveness of COPe-support to promote mental wellbeing and caregiving experiences in carers.

Methods
This study is a single-blind, parallel arm, individually randomized controlled trial (RCT) comparing COPe-support, with attention control. Both groups continue to receive usual care. COPe-support provides interactive web-based psychoeducation on psychosis-related issues, wellbeing-promotion and network support through forums. The attention-control is a non-interactive online information resource pack. Carers living in England are eligible if they provide at least weekly support to a family member or close friend affected by psychosis, and use internet communication (including emails) daily. All trial procedures are run online, including collection of outcome measurements which participants will directly input into our secure platform. Following baseline assessment, a web-based randomization system will be used to allocate 360 carers to either arm. Participants have unlimited access to the allocated condition for 40 weeks. Data collection is at three time points (10, 20, and 40 weeks after randomization). Analyses will be conducted by trial statisticians blinded to allocation. The primary outcome is mental wellbeing measured by Warwick Edinburgh Mental Wellbeing Scale (WEMWBS), at 20 weeks. As well as an intention-to-treat analysis, a complier average causal effect (CACE) analysis will be conducted to estimate the intervention effect in participants who have accessed COPe-support content twice or more. The secondary objectives and analysis will examine other health and caregiving-related outcomes and explore mechanisms. In a process evaluation, we will interview 20% of the intervention arm participants regarding the acceptability of COPe-support. We will explore in detail participants’ usage patterns.

Discussion
The results of this trial will provide valuable information about the effectiveness of COPe-support in promoting wellbeing and caregiving experiences in carers.

Trial registration
The RCT is registered with the Current Controlled Trials registration (ISRCTN 89563420, registration date: 02/03/2018).
Metabolic syndrome in indigenous communities in Mexico: a descriptive and cross-sectional study
Authors: Mendoza-Caamal Elvia Cristina , Barajas-Olmos Francisco , García-Ortiz Humberto , Cicerón-Arellano Isabel , Martínez-Hernández Angélica , Córdova Emilio J. , Esparza-Aguilar Marcelino , Contreras-Cubas Cecilia , Centeno-Cruz Federico , Cid-Soto Miguel , Morales-Marín Mirna Edith , Reséndiz-Rodríguez Adriana , Jiménez-Ruiz Juan Luis , Salas-Martínez María Guadalupe , Saldaña-Alvarez Yolanda , Mirzaeicheshmeh Elaheh , Rojas-Martínez María Rosalba , Orozco Lorena 
Published: March 2020

Abstract
Background
An Amerindian genetic background could play an important role in susceptibility to metabolic diseases, which have alarmingly increased in recent decades. Mexico has one of the highest prevalences of metabolic disease worldwide. The purpose of this study was to determine the prevalence of metabolic syndrome and its components in a population with high Amerindian ancestry.

Methods
We performed a descriptive, quantitative, and analytical cross-sectional study of 2596 adult indigenous volunteers from 60 different ethnic groups. Metabolic syndrome and its components were evaluated using the American Heart Association/National Heart, Lung, and Blood Institute Scientific Statement criteria.

Results
The overall prevalence of metabolic syndrome in the indigenous Mexican population was 50.3%. Although females had a higher prevalence than males (55.6% vs. 38.2%), the males presented with combinations of metabolic syndrome components that confer a higher risk of cardiovascular disease. The most frequent metabolic syndrome component in both genders was low HDL-cholesterol levels (75.8%). Central obesity was the second most frequent component in females (61%), though it had a low prevalence in males (16.5%). The overall prevalence of elevated blood pressure was 42.7% and was higher in males than females (48.8 vs. 40%). We found no gender differences in the overall prevalence of elevated triglycerides (56.7%) or fasting glucose (27.9%).

Conclusions
We documented that individuals with Amerindian ancestry have a high prevalence of metabolic syndrome. Health policies are needed to control the development of metabolic disorders in a population with high genetic risk.
Does free public transit increase physical activity and independent mobility in children? Study protocol for comparing children’s activity between two Finnish towns with and without free public transit
Authors: Pesola Arto J. , Hakala Pirjo , Berg Päivi , Ramezani Samira , Villanueva Karen , Tuuva-Hongisto Sari , Ronkainen Jussi , Laatikainen Tiina E. 
Published: March 2020

Abstract
Background
Children’s habitual physical activity, including active travel and catching public transit (walking and cycling to and from destinations), and independent mobility (mobility without an adult) have decreased. Public transit trips are physically active and can provide access to hobbies independent of parents, but there is no device-measured data about children’s total physical activity time following the introduction of free public transit. Our aim is to compare physical activity and independent mobility between children living in two Finnish towns, one with a recently introduced free public transit system, and the other without free public transit.

Methods
The city of Mikkeli has provided free public transit for all comprehensive school children since 2017. Various districts from Mikkeli, and the reference town of Kouvola (towns from South-Eastern Finland with a comparative population size and geographical structure), are selected based on their accessibility and the availability of public transit services. Samples of 10–12-year-old children will be recruited through primary schools. We will compare moderate-to-vigorous physical activity time, sitting time (a thigh-worn Fibion® device) and independent mobility (a participatory mapping method, PPGIS) of children: 1) who live in towns with and without free public transit, 2) who live and go to school in districts with high vs. low perceived and objective access to free public transit, and 3) who report using vs. not using free public transit. In addition, ethnography will be used to get insights on the social and cultural effects of the free public transit on children’s and parent’s everyday life.

Discussion
There is a need for scalable solutions that can increase children’s physical activity independent of their socioeconomic background or place of residence. This project will give information on how a political action to provide free public transit for children is associated with their total physical activity time and independent mobility patterns, therefore providing highly relevant information for political decision-making and for promoting independent physical activity in children.
Clustering of chronic hepatitis B screening intentions in social networks of Moroccan immigrants in the Netherlands
Authors: Hamdiui Nora , Buskens Vincent , van Steenbergen Jim E. , Kretzschmar Mirjam E. E. , Rocha Luis E. C. , Thorson Anna E. , Timen Aura , Wong Albert , van den Muijsenbergh Maria , Stein Mart L. 
Published: March 2020

Abstract
Background
Early detection, identification, and treatment of chronic hepatitis B through screening is vital for those at increased risk, e.g. born in hepatitis B endemic countries. In the Netherlands, Moroccan immigrants show low participation rates in health-related screening programmes. Since social networks influence health behaviour, we investigated whether similar screening intentions for chronic hepatitis B cluster within social networks of Moroccan immigrants.

Methods
We used respondent-driven sampling (RDS) where each participant (“recruiter”) was asked to complete a questionnaire and to recruit three Moroccans (“recruitees”) from their social network. Logistic regression analyses were used to analyse whether the recruiters’ intention to request a screening test was similar to the intention of their recruitees.

Results
We sampled 354 recruiter-recruitee pairs: for 154 pairs both participants had a positive screening intention, for 68 pairs both had a negative screening intention, and the remaining 132 pairs had a discordant intention to request a screening test. A tie between a recruiter and recruitee was associated with having the same screening intention, after correction for sociodemographic variables (OR 1.70 [1.15–2.51]).

Conclusions
The findings of our pilot study show clustering of screening intention among individuals in the same network. This provides opportunities for social network interventions to encourage participation in hepatitis B screening initiatives.
How does a targeted active labour market program impact on the well-being of the unemployed? A concept mapping study on Barcelona “Employment in the Neighbourhoods”
Authors: Puig-Barrachina Vanessa , Malmusi Davide , Artazcoz Lucía , Bartoll Xavier , Clotet Eva , Cortès-Franch Imma , Ventura Lorena , Daban Ferran , Díez Èlia , Borrell Carme 
Published: March 2020

AbstractBackgroundThe “Employment in the neighbourhoods” program is an innovative, tailor-made Active Labour Market Program that has been implemented in 12 neighbourhoods in Barcelona (Spain). Its goal is to get people from deprived, high-unemployment neighbourhoods back to work. The aim of this study was to describe the effects of the program on participants’ quality of life, and identify the mechanisms underlying these effects, according to their own perception and the perception of technical staff who assisted them.MethodsWe used Concept Mapping, a mixed methods approach combining qualitative and quantitative analysis, to develop a conceptual map of the participants’ and technical staffs’ perceptions about changes in the participants’ quality of life. Data collection occurred within the generation and structuring steps where participants brainstormed answers to a focus question, and then rated and sorted the responses. To create maps, we used Concept Systems Incorporated software, which conducted two main forms of analysis, a multidimensional scaling analysis, and a hierarchical cluster analysis.ResultsStudy participants reported several positive effects on mental health and emotional wellbeing, including self-esteem and empowerment, and considered that this was achieved through strengthened social networks, skills acquisition, emotional coaching, and personalized technical assistance. They also described some negative impacts, mainly related to the labour market situation. We observed marked gender differences in the discourses of program participants.ConclusionsThe results obtained have allowed us to identify different perceived effects and mechanisms by which the “Employment in the Neighbourhoods” Active Labour Market Programme can influence quality of life of participants from the most deprived areas of Barcelona.
Microbiological quality of water sources in the West region of Cameroon: quantitative detection of total coliforms using Micro Biological Survey method
Authors: Mabvouna Biguioh Rodrigue , Sali Ben Béchir Adogaye  , Nkamedjie Pete Patrick Martial , Sanou Sobze Martin , Kemogne Jean Blaise , Colizzi Vittorio 
Published: March 2020

Abstract
Background
Adequate supply of safe drinking-water remains a critical issue in most developing countries. The whole western region of Cameroon doesn’t have a sustainable continuous water supply system, which leads most people to use potentially contaminated water sources to meet their daily water needs. Previous, studies carried out in similar areas of Cameroon have highlighted the poor bacteriological quality of water sources used as drinking-water by the local populations.

Methods
This study used the Micro Biological Survey method, a rapid colorimetric test for the quantitative detection of Coliforms in water samples. 22 water sources (12 improved and 10 unimproved) were identified; 1 water sample of 50 ml was collected in sterile plastic tubes, immediately kept in a refrigerator box and transported to the laboratory for analysis. 1 ml of each sample was inoculated in the Coliforms Micro Biological Survey (Coli MBS) vials initially rehydrated with 10 ml of sterile distilled water. The Coli MBS vials were closed, shaken for about 30 s for homogenization and then incubated at 37 °C. From the initial red color of the Coli MBS vials, changes in color of the reaction vials were monitored at three different time intervals (12 h, 19 h and 24 h), corresponding to three levels of contamination.

Results
The average distance (8.7 m) of the latrines from the nearest water source was less than the minimal recommended distance (15 m) to ovoid external contamination. The pH of water samples ranged from 5.5 to 8.3 and the maximum temperature found (26 °C) was almost at level favorable to outbreaks of waterborne diseases such as cholera. The presence of Total Coliforms was detected in 90.91% of the samples. 40% of samples were positive 12 h after the analysis beginning. High level of contamination was observed in unimproved water sources, 50% after 12 h corresponding to Total Coliforms concentration of 10 < x < 103 CFU/ml and the other samples after 19 h (Total Coliforms concentration: 1 < x < 10 CFU/ml).

Conclusion
This study revealed the poor microbiological quality of water used by local populations of our study sites. There is need to conduct further qualitative microbiology studies to isolate potential germs involved in outcome of diarrheal diseases.