bluuebunny/crossref_metadata_2025_split huggingface dataset:
Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs
Authors: Berghöfer Jan , Khaveh Nadia , Mundlos Stefan , Metzger Julia 
Published: August 2022

Abstract
Background
Past selection events left footprints in the genome of domestic animals, which can be traced back by stretches of homozygous genotypes, designated as runs of homozygosity (ROHs). The analysis of common ROH regions within groups or populations displaying potential signatures of selection requires high-quality SNP data as well as carefully adjusted ROH-defining parameters. In this study, we used a simultaneous testing of rule- and model-based approaches to perform strategic ROH calling in genomic data from different pig populations to detect genomic regions under selection for specific phenotypes.

Results
Our ROH analysis using a rule-based approach offered by PLINK, as well as a model-based approach run by RZooRoH demonstrated a high efficiency of both methods. It underlined the importance of providing a high-quality SNP set as input as well as adjusting parameters based on dataset and population for ROH calling. Particularly, ROHs ≤ 20 kb were called in a high frequency by both tools, but to some extent covered different gene sets in subsequent analysis of ROH regions common for investigated pig groups. Phenotype associated ROH analysis resulted in regions under potential selection characterizing heritage pig breeds, known to harbour a long-established breeding history. In particular, the selection focus on fitness-related traits was underlined by various ROHs harbouring disease resistance or tolerance-associated genes. Moreover, we identified potential selection signatures associated with ear morphology, which confirmed known candidate genes as well as uncovered a missense mutation in the ABCA6 gene potentially supporting ear cartilage formation.

Conclusions
The results of this study highlight the strengths and unique features of rule- and model-based approaches as well as demonstrate their potential for ROH analysis in animal populations. We provide a workflow for ROH detection, evaluating the major steps from filtering for high-quality SNP sets to intersecting ROH regions. Formula-based estimations defining ROHs for rule-based method show its limits, particularly for efficient detection of smaller ROHs. Moreover, we emphasize the role of ROH detection for the identification of potential footprints of selection in pigs, displaying their breed-specific characteristics or favourable phenotypes.
Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy
Authors: Kalayinia Samira , Mahdavi Mohammad , Houshmand Golnaz , Hesami Mahshid , Pourirahim Maryam , Maleki Majid 
Published: August 2022

Abstract
Background
Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiac disease with two main features: electric instability and myocardial fibro-fatty replacement. There is no defined treatment except for preventing arrhythmias and sudden death. Detecting causative mutations helps identify the disease pathogenesis and family members at risk. We used whole-exome sequencing to determine a genetic explanation for an ACM-positive patient from a consanguineous family.

Methods
After clinical analysis, cardiac magnetic resonance, and pathology, WES was performed on a two-year-old ACM proband. Variant confirmation and segregation of available pedigree members were performed by PCR and Sanger sequencing. The PPP1R13L gene was also analyzed for possible causative variants and their hitherto reported conditions.

Results
We found a novel homozygous stop-gain pathogenic variant, c.580C > T: p.Gln194Ter, in the PPP1R13L gene, which was confirmed and segregated by PCR and Sanger sequencing. This variant was not reported in any databases.

Conclusions
WES is valuable for the identification of novel candidate genes. To our knowledge, this research is the first report of the PPP1R13L c.580C > T variant. The PPP1R13L variant was associated with ACM as confirmed by cardiac magnetic resonance and pathology. Our findings indicate that PPP1R13L should be included in ACM genetic testing to improve the identification of at-risk family members and the diagnostic yield.
Accuracy of high-risk HPV DNA PCR, p16(INK4a) immunohistochemistry or the combination of both to diagnose HPV-driven oropharyngeal cancer
Authors: Simoens Cindy , Gheit Tarik , Ridder Ruediger , Gorbaslieva Ivana , Holzinger Dana , Lucas Eric , Rehm Susanne , Vermeulen Peter , Lammens Martin , Vanderveken Olivier M. , Kumar Rekha Vijay , Gangane Nitin , Caniglia Alessandro , Maffini Fausto , Rubio Maria Belén Lloveras , Anantharaman Devasena , Chiocca Susanna , Brennan Paul , Pillai Madhavan Radhakrishna , Sankaranarayanan Rengaswamy , Bogers Johannes , Pawlita Michael , Tommasino Massimo , Arbyn Marc ,   the HPV-AHEAD study group, Carreira Christine , McKay-Chopin Sandrine , Jayshree Rudrapatna S. , Sabitha Kortikere S. , Shenoy Ashok M. , Zito Alfredo , Chiesa Fausto , Tagliabue Marta , Ansarin Mohssen , Sankaran Subha , Herold-Mende Christel , Dyckhoff Gerhard , Mosialos George , Boeing Heiner , Castellsagué Xavier , Sanjosé Silvia de , Mena Marisa , Bosch Francesc Xavier , Alemany Laia , Esmy Pulikottil Okkuru , Vijayakumar Manavalan , Chiwate Aruna S. , Thorat Ranjit V. , Hublikar Girish G. , Lakshetti Shashikant S. , Nene Bhagwan M. , Kataki Amal Ch. , Das Ashok Kumar , Ramadas Kunnambath , Somanathan Thara 
Published: August 2022

Abstract
Background
The incidence of high-risk human papillomavirus (hrHPV)-driven head and neck squamous cell carcinoma, in particular oropharyngeal cancers (OPC), is increasing in high-resource countries. Patients with HPV-induced cancer respond better to treatment and consequently have lower case-fatality rates than patients with HPV-unrelated OPC. These considerations highlight the importance of reliable and accurate markers to diagnose truly HPV-induced OPC.

Methods
The accuracy of three possible test strategies, i.e. (a) hrHPV DNA PCR (DNA), (b) p16(INK4a) immunohistochemistry (IHC) (p16), and (c) the combination of both tests (considering joint DNA and p16 positivity as positivity criterion), was analysed in tissue samples from 99 Belgian OPC patients enrolled in the HPV-AHEAD study. Presence of HPV E6*I mRNA (mRNA) was considered as the reference, indicating HPV etiology.

Results
Ninety-nine OPC patients were included, for which the positivity rates were 36.4%, 34.0% and 28.9% for DNA, p16 and mRNA, respectively. Ninety-five OPC patients had valid test results for all three tests (DNA, p16 and mRNA). Using mRNA status as the reference, DNA testing showed 100% (28/28) sensitivity, and 92.5% (62/67) specificity for the detection of HPV-driven cancer. p16 was 96.4% (27/28) sensitive and equally specific (92.5%; 62/67). The sensitivity and specificity of combined p16 + DNA testing was 96.4% (27/28) and 97.0% (65/67), respectively. In this series, p16 alone and combined p16 + DNA missed 1 in 28 HPV driven cancers, but p16 alone misclassified 5 in 67 non-HPV driven as positive, whereas combined testing would misclassify only 2 in 67.

Conclusions
Single hrHPV DNA PCR and p16(INK4a) IHC are highly sensitive but less specific than using combined testing to diagnose HPV-driven OPC patients. Disease prognostication can be encouraged based on this combined test result.
Risk factors of pelvic floor muscle strength in south Chinese women: a retrospective study
Authors: Fang Jianqi , Ye Jiajia , Huang Qing , Lin Yang , Weng Yilin , Wang Miao , Chen Yi , Lu Yao , Zhang Ronghua 
Published: August 2022

Abstract
Objectives
To evaluate pelvic floor muscle strength using surface electromyography and risk factors for pelvic floor muscle strength in the early postpartum period.

Methods
This retrospective study included 21,302 participants who visited Fujian
Maternity and Child Health Hospital from September 2019 to February 2022. All participants
were assessed by
medical professionals for general information and surface electromyography.

Results
Univariate analysis indicated that age was inversely related to tonic and endurance contractions. In contrast, all the other variables, including education level, body mass index, neonatal weight, and number of fetuses, had a positive impact on rapid, tonic, and endurance contractions. Likewise, parity was also positively associated with rapid contractions. In addition, compared with vaginal delivery, cesarean section delivery had a protective effect on the amplitude of the three types of contractions. Stepwise regression analysis showed that both age and neonatal weight had a negative linear relationship with the amplitude of rapid, tonic and endurance contractions. In contrast, the amplitude of rapid, tonic and endurance contractions significantly increased as body mass index, parity (≤ 3), education level and gestational weight gain (endurance contractions only) increased. Participants with cesarean section delivery showed positive effects on rapid, tonic, and endurance contractions compared to participants with vaginal delivery.

Conclusions
We found that age, neonatal weight, vaginal delivery, episiotomy, and forceps delivery were risk factors for pelvic floor muscle strength; in contrast, body mass index, parity (≤ 3) and gestational weight gain had a positive relationship with pelvic floor muscle strength.
Development and psychometric properties of the maternal ambivalence scale in spanish women
Authors: Martín-Sánchez Magdalena Belén , Martínez-Borba Verónica , Catalá Patricia , Osma Jorge , Peñacoba-Puente Cecilia , Suso-Ribera Carlos 
Published: August 2022

Abstract
Background
maternal ambivalence, which refers to experiencing mixed emotions about motherhood, like happiness and sadness, is frequent during the perinatal period.

Aim
Due to the relevance of this topic and the lack of psychometrically-sound instruments to measure it, this study aims to develop and test a measure of maternal ambivalence called the Maternal Ambivalence Scale (MAS).

Methods
in this cross-sectional, observational study, participants were 1424 Spanish women recruited online who were either pregnant (33%) or recent mothers of children under 2 years (67%). They responded to the MAS and measures of anxiety and depressive symptoms and life satisfaction. Analyses included exploratory and confirmatory factor solutions for the MAS, internal consistency estimates (Cronbach’s α) for all scales, as well as bivariate correlations to investigate sources of validity evidence. Comparisons between pregnant and postpartum women were also examined.

Results
The assumptions for factor analysis about the relationship between items were met (Kaiser-Meyer-Olkin’s [KMO] test = 0.90; Barlett’s Chi-square sphericity test = 5853.89, p < .001). A three-factor solution (Doubts, Rejection, and Suppression) for the MAS showed a good model fit both in exploratory (Chi-square = 274.6, p < .001, Root Mean Square Error of Approximation [RMSEA] = 0.059, RMSEA 90% Confidence Interval [CI]=[0.052, 0.066], Comparative Fit Index [CFI] = 0.985, Tucker Lewis Index [TLI] = 0.974) and confirmatory analyses (Chi-square = 428.0, p < .001, RMSEA = 0.062, RMSEA 90% CI=[0.056, 0.068], CFI = 0.977, TLI = 0.971). Doubts (α = 0.83), Rejection (α = 0.70), and Suppression (α = 80) were associated with higher anxiety and depressive symptoms, as well as lower life satisfaction (all p < .001). Pregnant women presented greater Rejection (mean difference = 0.30, p = .037, 95% CI=[0.02, 0.58]) and less Suppression (mean difference=-0.47, p = .002, 95% CI=[-0.77,-0.17]) than mothers.

Conclusion
with this study, we provide clinicians and researchers with a novel tool that successfully captures the complex nature of maternal ambivalence. Given the associations of maternal ambivalence with important outcomes in perinatal women, this tool could be important for the prevention of distress associated with chronic ambivalence and to evaluate the effectiveness of interventions addressing ambivalence.
Neurobehavioural challenges experienced by HIV exposed infants: a study in South Africa
Authors: Rencken Gina , Govender Pragashnie , Uys Catharina J. E. 
Published: August 2022

Abstract
Background
The newborn infant is a complexly organized, competent being, who plays an active role in shaping their environment through their increasing skills in autonomic regulation, motor control, regulation of state and social interaction. Infants born to HIV positive mothers, are exposed to HIV and antiretroviral therapy inutero, and may experience adverse effects from this.

Methods
A cross-sectional study of 132 mother-infant dyads from a large public health hospital in South Africa. Infants were assessed using the Neonatal Behavioural Assessment Scale on day two of life, and mothers mental health assessed using the Edinburugh Postnatal Depression Scale. Medical and demographic data on mothers and infants was collected, including maternal age, HIV status, length of time on antiretrovirals, relationship status, employment status, gravid status, mode of delivery, infant anthropometrics and infant gender. Data was input into IBM SPSS statistics 21, where frequencies and percentages for descriptive analysis, and Chi-square and student’s two sample t-tests were run to compare data from HIV infected-exposed and HIV uninfected-unexposed mothers and infants.

Results
HIV exposed infants were smaller than HIV unexposed infants, even though low birth weight was an exclusion criteria. Statistically significant differences were found between HIV exposed and unexposed infants in neurobehavioiral items of social interaction (p = 0.00), motor system (p = 0.00) and state organization (p = 0.01), with HIV exposed infants performing less optimally in these domains. HIV exposed infants also presented with more abnormal reflexes. Infants born to depressed mothers showed superior motor skills, state organization and state regulation than infants born to mothers who did not score in the possibly depressed range.

Conclusions
HIV exposed infants have inferior neurobehavioural functioning, which may affect their quality of life and ability to develop a reciprocal relationship with a primary caregiver. This may have an effect on development, behaviour and mental health in later childhood. HIV exposed infants shoud be monitored closely and their functioning in autonomic stability, motor control, resualtion of state and social interaction assessed regularly. Guidance for caregivers in incorporating strategies into the care of these infants is essential to buffer the possible long term negative effects on development.
Iranian psychiatrists’ attitude towards clozapine use for patients with treatment-resistant schizophrenia: a nationwide survey
Authors: Rezaie Leeba , Nazari Azadeh , Safari-Faramani Roya , Shohaimi Shamarina , Khazaie Habibolah 
Published: August 2022

Abstract
Background
Clozapine has the greatest efficacy for treatment-resistant schizophrenia (TRS), even though its underutilization is not uncommon across different countries. This study aimed to investigate the knowledge and attitude of Iranian psychiatrists toward clozapine use.

Method
In this cross-sectional study, a questionnaire was distributed among psychiatrists registered with the Iranian Psychiatrists Association (including its provincial branches) to assess their knowledge and attitude towards clozapine use. A total of 282 psychiatrists completed the questionnaire. Descriptive analysis was used to describe demographic information, and Chi-square tests were conducted to determine if there is an association between academic position and work experience. All statistical analyses were performed using SPSS® version 25.0 for Windows, and a significance level of 0.05 was used.

Results
Most respondents (93%) acknowledged that they prescribed clozapine for their patients, and 74% believed that clozapine was more effective than other antipsychotic drugs. However, 43.3% of the respondents said they did not believe in the safety of clozapine. Difficulty initiating and having no firsthand experience in the superiority of clozapine were reported by 81.2 and 80% of the respondents, respectively. Our results also showed an association between having an academic position and access to appropriate facilities for the control and management of patients treated with clozapine and believing in the safety of clozapine (p < 0.05). Longer work experience (more than 15 years) was associated with a higher prescription of clozapine, belief in greater effectiveness of clozapine, and its safety (p < 0.0001).

Conclusion
Iranian psychiatrists had a good self-perception of knowledge about the efficacy of clozapine for patients with TRS, but concerns about serious side effects are common. Psychiatrists with longer work experience and academic positions were more optimistic towards clozapine use than the younger ones with no academic position. Considering the results in planning the strategies to decrease concerns about clozapine use is recommended.
Paediatric Acute-onset Neuropsychiatric Syndrome (PANS) and intravenous immunoglobulin (IVIG): comprehensive open-label trial in ten children
Authors: Hajjari Parisa , Oldmark Malin Huldt , Fernell Elisabeth , Jakobsson Klara , Vinsa Ingrid , Thorsson Max , Monemi Mehran , Stenlund Lotta , Fasth Anders , Furuhjelm Catrin , Johnels Jakob Åsberg , Gillberg Christopher , Johnson Mats 
Published: August 2022

Abstract
Background
Treatment with intravenous immunoglobulin (IVIG) in children with Paediatric Acute-onset Neuropsychiatric Syndrome (PANS) has for many years been used on clinical indications, but the research evidence for its efficacy is insufficient.

Methods
Open-label prospective in-depth trial including ten children (median age 10.3 years) with PANS, who received IVIG treatment 2 g/kg monthly for three months. Primary outcomes were changes in symptom severity and impairment from baseline to first and second follow-up visits one month after first and one month after third treatment, using three investigator-rated scales: Paediatric Acute Neuropsychiatric Symptom (PANS) scale, Clinical Global Impression – Severity and Improvement (CGI-S and CGI-I) scales. Secondary outcomes reported here were changes in Children’s Yale-Brown Obsessive Compulsive Scale (CY-BOCS) scores, and side effects.

Results
All ten children received three treatments at one-month intervals according to study plan. From baseline to second follow-up marked reductions were seen in mean total PANS scale scores (p = .005), and CGI-S scores (p = .004). CGI-I ratings showed much to very much global improvement (mean CGI-I 1.8). Nine children had clinical response defined as > 30% reduction in PANS Scale scores. Improvements were also noted for CY-BOCS scores (p = .005), and in school attendance. Three children suffered moderate to severe temporary side effects after the first treatment, and the remaining seven had mild to moderate side effects. Side effects were much less severe after second and third treatments.

Conclusions
Considerable and pervasive improvements in symptoms and clinical impairments were seen in these ten children after three monthly IVIG treatments. Moderate to severe transient side effects occurred in three cases.

Trial registration
EudraCT no. 2019–004758-27, Clinicaltrials.gov no. NCT04609761, 05/10/2020.
The effects of oral health and social support on health-related quality of life of migrant older with children in Weifang, China
Authors: Wang Jieru , Zhao Jinfeng , Tian Tingting , Jiang Xiaoxu , Li Hexian , Pang Mingli , Kong Fanlei 
Published: August 2022

Abstract
Background
With the accelerated urbanization and aging population in China, more and more migrant older with children (MOC) moved to new cities. Previous studies mainly explored the acculturation of MOC, yet few focused on the health conditions of this vulnerable group. This study aimed to investigate the effects of oral health and social support on health-related quality of life (HRQOL) of MOC in Weifang, China.

Method
This study was a cross-sectional study and participants were selected by multi-stage cluster random sampling in Weifang, China. The HRQOL was assessed via the 12-item Short-Form Health Survey (SF-12) which included the mental component summary (MCS) and the physical component summary (PCS). The oral health was evaluated by the Geriatric Oral Health Assessment Index (GOHAI). The social support was administered using the Social Support Rating Scale (SSRS). Descriptive analysis was used to describe participants’ sociodemographic variables, oral health and social support. Univariate analysis and binary logistic regression analysis was used to investigate the association between the social support, oral health and HRQOL.

Results and discussion
It was found that 25.0% of MOC were defined as MCS poor and PCS poor, respectively. Those participants with average and low monthly household income compared to those around them, average and poor oral health, and low levels of social support were more likely to have poor PCS. Those with temporary residence permits, fair and poor oral health, and medium and low levels of social support were more likely to report poor MCS.

Conclusion
Results indicated that better social support and oral health led to higher HRQOL of MOC. Implications for the government, communities and families of MOC were given to improve their HRQOL.
Educational intervention program based on health belief model and neck pain prevention behaviors in school teachers in Tehran
Authors: Moradi Zohreh , Tavafian Sedigheh Sadat , Kazemi Seyedeh Somayeh 
Published: August 2022

Abstract
Background
Prevention of musculoskeletal disorders as one of the most common occupational health problems among the working population in both developed and developing countries is an important necessity and priority. The aim of this study was to evaluate the effectiveness of an educational intervention program based on the Health Belief Model (HBM) to increase awareness, perceived sensitivity, perceived severity, perceived benefits, and self-efficacy in adopting neck health-promoting behaviors in school teachers.

Methods
The present study was a quasi-experimental of the randomized clinical trial that was conducted for 6 months (December 2020 to July 2021). Participants were 146 junior high school teachers were selected from 26 schools through random sampling and divided into two groups of intervention and control. The data collection instrument was the self-design questionnaire and was completed in three points of time (before, immediately, and 3 months after the intervention). The data were analyzed by software version 24 SPSS.

Results
The results showed that awareness, perceived sensitivity, perceived severity, perceived benefits and barriers, and self-efficacy in adopting neck health-promoting behaviors in the intervention group increased in two points of time (immediately after the intervention and 3 months of follow-up) (P <  0.05).

Conclusion
Designing and implementing an educational intervention based on HBM could affect in adopting neck health-promoting behaviors among teachers.

Trial registration
IRCT20210301050542N1, 16/03/2021 first registration has been approved in Iranian Registry of Clinical Trials at (16/03/2021).