bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing
Authors: Yang Qi , Qin Zailong , Zhang Qinle , Yi Shang , Yi Sheng , Luo Jingsi 
Published: March 2022

AbstractSMG9-deficiency syndrome, also known as heart and brain malformation syndrome, is a very rare congenital genetic disorder mainly characterized by brain, heart, and growth and developmental abnormalities. This syndrome is an autosomal recessive disease resulting from mutations in the SMG9 gene, which encodes a critical component of nonsense-mediated mRNA decay. Thus far, only twelve SMG9 deficiency patients have been reported with five novel homozygous SMG9 mutations. The most frequent characteristic features of these patients are facial dysmorphism, severe global developmental delay, intellectual disability, congenital heart disease, growth restriction, microcephaly, and brain abnormalities. Herein, whole exome sequencing was performed to identify novel compound heterozygous SMG9 variants (NM_019108.3: c.1318_1319delAG (p.Ser440*) and c.947A>G (p.His316Arg)) in the proband, who exhibited syndromic intellectual disability. Mutations were confirmed as segregating in his affected sister and other unaffected family members by Sanger sequencing. The patients we describe here have a similar dysmorphology profile associated with SMG9-deficiency syndrome. Comparing the phenotype with that of patients in published reports, our patients can walk independently and their growth parameters are normal. In addition, short stature, failure to thrive, and microcephaly were not observed. Possible residual function of the H316R SMG9 variant could explain the milder phenotype observed in our patients. Our report is the first description of a non-consanguineous Chinese pedigree with novel compound heterozygous variants in the SMG9 gene. The molecular confirmation of the patient expands the genetic spectrum of SMG9-deficiency syndrome, and the manifestation of SMG9-deficiency syndrome in the patient provides additional clinical information regarding this syndrome.
At the interface between the formal and informal, the actual and the real: a realist study protocol for governance and accountability practices in urban settings focusing on adolescent sexual and reproductive health and rights
Authors: Van Belle Sara 
Published: March 2022

Abstract
Background
This paper presents the protocol of a study that aims at exploring how different multi-level governance arrangements impact on sexual and reproductive health of adolescents living in informal settlements. The overall objective of this study is to contribute to a better understanding of the causal chains underlying accountability in sexual and reproductive health for adolescent girls and young women living in urban informal settlements in low-and middle-income countries.

Methods
The overarching methodology is realist evaluation. The study adopts a case study design, through which governance and accountability practices in Mumbai, Delhi, Cotonou and Kampala will be examined. Different social science methods to develop and test a programme theory will be used. Heuristic tools for the analysis of the accountability ecosystem and mapping of governance arrangements, drawing from contextual political analysis and critical realism, will be developed in order to identify the intervention-context-actor-mechanism-outcome configurations.

Discussion
The methodological approach is geared towards building robust case-based explanation with due attention to context and the roles of different actors. The combination of different social science methods will lead us to a better grasp of the inherently political nature of social accountability.
Aged mice ovaries harbor stem cells and germ cell nests but fail to form follicles
Authors: Sharma Diksha , Bhartiya Deepa 
Published: March 2022

AbstractBackgroundWe recently published evidence to suggest that two populations of stem cells including very small embryonic-like stem cells (VSELs) and ovarian stem cells (OSCs) in ovary surface epithelium (OSE) undergo proliferation/differentiation, germ cell nests (GCN) formation, meiosis and eventually differentiate into oocytes that assemble as primordial follicles on regular basis during estrus cycle. Despite presence of stem cells, follicles get exhausted with advancing age in mice and result in senescence equivalent to menopause in women. Stem cells in aged ovaries can differentiate into oocytes upon transplantation into young ovaries, however, it is still not well understood why follicles get depleted with advancing age despite the presence of stem cells. The aim of the present study was to study stem cells and GCN in aged ovaries.MethodsOSE cells from aged mice (> 18 months equivalent to > 55 years old women) were enzymatically separated and used to study stem cells. Viable (7-AAD negative) VSELs in the size range of 2–6 µm with a surface phenotype of Lin−CD45−Sca-1+were enumerated by flow cytometry. Immuno-fluorescence and RT-PCR analysis were done to study stem/progenitor cells (OCT-4, MVH, SCP3) and transcripts specific for VSELs (Oct-4A, Sox-2, Nanog), primordial germ cells (Stella), germ cells (Oct-4, Mvh), early meiosis (Mlh1, Scp1)and ring canals (Tex14).ResultsPutative VSELs and OSCs were detected as darkly stained, spherical cells with high nucleo-cytoplasmic ratio along with germ cells nests (GCN) in Hematoxylin & Eosin stained OSE cells smears. Germ cells in GCN with distinct cytoplasmic continuity expressed OCT-4, MVH and SCP3. Transcripts specific for stem cells, early meiosis and ring canals were detected by RT-PCR studies.ConclusionRather than resulting as a consequence of accelerated loss of primordial follicle and their subsequent depletion, ovarian senescence/menopause occurs as a result of stem cells dysfunction. VSELs and OSCs exist along with increased numbers of GCNs arrested in pre-meiotic or early meiotic stage in aged ovaries and primordial follicle assembly is blocked possibly due to age-related changes in their microenvironment.
Exploring dynamics in catastrophic health care expenditure in Nigeria
Authors: Edeh Henry C. 
Published: March 2022

Abstract
Background
The Nigeria’s National Health Insurance Scheme aimed at making health care accessible and affordable since it’s became operational in 2005. However, many Nigerians still pay out of pocket for medical expenses, and this drive them to incurring catastrophic health expenditures. Although monitoring progress towards UHC is crucial, one single study exploring the dynamics in catastrophic health expenditure proportion, associated factors, inequality concentration, inequality size, together with decomposition using a longer period Nigeria panel household survey datasets is very scarce.

Methods
Data was drawn from three rounds of the Nigeria General Household Survey. The fixed percentage and rank-dependent thresholds were used to calculate and compare the proportion of households that incur catastrophic health expenditures. The logistic regression model was employed in analyzing the factors associated with catastrophic health expenditures. The concentration of catastrophic health expenditures inequality was assessed using the concentration curve, whereas the inequality size was determined using the concentration index. The decomposition method was used to decompose the concentration index into determining components.

Results
Relative to the fixed threshold value, the rank-dependent threshold revealed a higher share of households facing catastrophic health expenditures i.e., from 27% in 2010/2011 to 48% in 2015/2016. The two thresholds reveal similar trend, but differ in percentage points. The key factors associated with catastrophic health expenditures were economic status and geopolitical zone. Inequality in catastrophic health expenditures was found to be concentrated among the poor. The household economic status was uncovered as the major positive contributor to catastrophic health expenditures inequality across the sample periods.

Conclusion
The findings of the study imply that narrowing economic status gap across households, and increasing the depth of insurance are crucial mechanisms to reduce the probability of incurring catastrophic health expenditures among the poor in Nigeria.
The danger of a single story about Fulani pastoralists
Authors: Moritz Mark , Mbacke Mamediarra 
Published: March 2022

AbstractIn the last few years, an increasing number of articles, reports, websites, and official documents have been published with narratives that link Fulani pastoralists to insecurity in West and Central Africa. In this article, we critically analyse one of these documents: a legislation factsheet from the United States Commission on International Religious Freedom (USCIRF) titled Factsheet: Fulani Communities that was published in September 2020. We focus our analysis on this factsheet because it is an official document from a US government entity that aims to inform policy-makers, it contains problematic narratives that are emblematic of larger discourses about Fulani pastoralists, and it links to a number of questionable sources. We critically reviewed the narratives in the factsheet and the linked sources. We found that even though it aims to be fair and balanced, the factsheet is biased against Fulani pastoralists, primarily because it links one single group to violence and religious tension and its use of problematic sources. In conclusion, we find that the factsheet perpetuates a single story or stereotype about Fulani pastoralists and thereby fuels existing inflammatory rhetoric that will likely increase insecurity, rather than contribute to peace and stability in the region.
Development of an isotope dilution liquid chromatography/tandem mass spectrometry method for the accurate determination of neonicotinoid pesticides, imidacloprid, clothianidin, and thiamethoxam in kimchi cabbage reference materials
Authors: Ahn Seonghee , Son Sunwoong , Kim Byungjoo , Choi Kihwan 
Published: March 2022

AbstractA method based on isotope dilution liquid chromatography/tandem mass spectrometry (ID-LC/MS/MS) was established as a candidate reference method for accurate determination of neonicotinoid pesticides, imidacloprid, clothianidin, and thiamethoxam in kimchi cabbage. Their deuterated isotopes, imidacloprid-d4, chlothianidin-d3, and thiamethoxam-d4 were used as internal standards. The combination of HLB and Carb solid-phase extraction (SPE) cartridges was used to clean-up kimchi cabbage extracts. The ID-LC/MS/MS conditions were optimized with fortified kimchi cabbage samples for validation. Imidacloprid in the ERM-BC403 cucumber sample (0.627 ± 0.026) mg/kg was analyzed with the developed method, and the measured value (0.604 ± 0.028) mg/kg agreed within their uncertainties. The developed method was employed for the certification of kimchi cabbage reference materials prepared in this laboratory. The measured values of imidacloprid, clothianidin, and thiamethoxam are (0.860 ± 0.020) mg/kg, (0.524 ± 0.012) mg/kg, (0.787 ± 0.014) mg/kg, respectively. The standard deviation of the measured values for ten bottles was < 1%, and the measured values after one year agreed with their first measurements indicating reliable repeatability and reproducibility of the developed method.
Opportunities for extended community pharmacy services in United Arab Emirates: perception, practice, perceived barriers and willingness among community pharmacists
Authors: Palaian Subish , Alomar Muaed , Hassan Nageeb , Boura Fatima 
Published: March 2022

Abstract
Background
Community pharmacies are widely distributed in the United Arab Emirates where community pharmacists’ (CPs’) perspectives on provision of extended community pharmacy services (ECPS) is not known. This study assessed CPs perception, practices, perceived barriers and willingness to provide ECPS.

Methods
A descriptive cross-sectional survey using a self-administered Likert-type questionnaire (Cronbach alpha = 0.976) was conducted among 195 community CPs in Northern emirates, selected through multistage sampling technique. The filled questionnaires were assessed for CPs’ perception, practice, perceived barriers and willingness to perform ECPS. Mann–Whitney and Kruskal–Wallis tests examined the association between demography and outcome variables (alpha value of 0.05) with further analysis using Dunn’ post hoc test.

Results
Of the respondents, 71.8% (n = 140) ‘strongly agreed’ that every CP must provide ECPs and 39% (n = 76) ‘strongly agreed’ in supporting ECPS with another 44.1% (n = 86) ‘agreed’ on the same. The major barriers felt by CPs in practicing ECPS were lack of incentive for employee pharmacists [3 (2–3)], lack of documentation [3 (2–3)], insufficient time [3 (2–3)] and lack of patients’ demand [(2–3)]; maximum score (5–5). CPs also responded ‘completely’ willing to provide services such as blood pressure measurement, pregnancy testing and BMI measurement. Pharmacy location influenced practice score (p = 0.008) and access to the internet had a significant effect on barriers score (p = 0.000). Availability of drug information sources impacted perception (p = 0.038), practice (p = 0.000) and willingness scores (p = 0.011).

Conclusions
CPs’ perception on providing ECPS was positive and they are currently offering ECPS within their available resources and facilities. Less demand from patients and lack of time were reportedly the major barriers in offering ECPS. Proper utilization of CPs in providing ECPS can complement the healthcare system with additional cost and time savings for the patients.
Influence of composition-dependent thermal conductivity on the long-term evolution of primordial reservoirs in Earth's lower mantle
Authors: Li Yang , Deschamps Frédéric , Shi Zhidong , Guerrero Joshua M. , Hsieh Wen-Pin , Zhao Liang , Tackley Paul J. 
Published: March 2022

AbstractThe influence of composition-dependent thermal conductivity and heterogeneous internal heating of primordial dense material on the long-term evolution of primordial reservoirs in the lower mantle of the Earth is investigated utilizing thermochemical mantle convection simulations in a 2-D spherical annulus geometry. Our results show that a reduction in the thermal conductivity of primordial dense material due to iron enrichment does not substantially alter mantle dynamics nor the long-term stability of the reservoirs of this dense material. If the primordial dense material is also enriched in heat-producing elements, the average altitude of these reservoirs slightly increases as the thermal conductivity is reduced, therefore, covering smaller core–mantle boundary areas. Our study indicates that the composition-dependent thermal conductivity of primordial material plays a second order role in the long-term evolution of Earth's mantle.
Graphical Abstract
The 3-triangle method preserves the posterior tibial slope during high tibial valgus osteotomy: first preliminary data using a mathematical model
Authors: Weißenberger Manuel , Wagenbrenner Mike , Schote Fritz , Horas Konstantin , Schäfer Thomas , Rudert Maximilian , Barthel Thomas , Heinz Tizian , Reppenhagen Stephan 
Published: March 2022

Abstract
Purpose
Despite much improved preoperative planning techniques accurate intraoperative assessment of the high tibial valgus osteotomy (HTO) remains challenging and often results in coronal over- and under-corrections as well as unintended changes of the posterior tibial slope. Noyes et al. reported a novel method for accurate intraoperative coronal and sagittal alignment correction based on a three-dimensional mathematical model. This is the first study examining preliminary data via the proposed Noyes approach for accurate intraoperative coronal and sagittal alignment correction during HTO.

Methods
From 2016 to 2020 a total of 24 patients (27 knees) underwent HTO applying the proposed Noyes method (Noyes-Group). Radiographic data was analyzed retrospectively and matched to patients that underwent HTO using the conventional method, i.e., gradual medial opening using a bone spreader under fluoroscopic control (Conventional-Group). All operative procedures were performed by an experienced surgeon at a single orthopaedic university center.

Results
From the preoperative to the postoperative visit no statistically significant changes of the posterior tibial slope were noted in the Noyes-Group compared to a significant increase in the Conventional-Group (p = 0.01). Regarding the axial alignment no significant differences between both groups were observed pre- and postoperatively. The number of over- and under-corrections did not differ significantly between both groups. Linear regression analysis showed a significant correlation of the postoperative medial proximal tibial angle (MPTA) with the position of the weightbearing line on the tibial plateau.

Conclusion
The 3-triangle method by Noyes seems to be a promising approach for preservation of the posterior tibial slope during HTO.
Feasibility and acceptability of somatocognitive therapy in the management of women with provoked localized vestibulodynia—ProLoVe feasibility study
Authors: Kaarbø Mette Bøymo , Danielsen Kristine Grimen , Haugstad Gro Killi , Helgesen Anne Lise Ording , Wojniusz Slawomir 
Published: March 2022

AbstractBackgroundProvoked vestibulodynia (PVD) is a prevalent chronic pain condition especially among young women. Pain is localized to the vulvar vestibule and is provoked by touch or pressure, such as penetrative intercourse. PVD can have profound consequences, adversely affecting a woman’s sexual life, relation to her partner, and her psychological health. There is an urgent need for well-designed randomized clinical trials (RCTs) to identify the most effective interventions for this neglected women’s health condition.AimsThe primary aim of this study is to assess the feasibility of undertaking a full-scale RCT of somatocognitive therapy (SCT), a multimodal physiotherapy intervention, for women with PVD. The secondary aim is to evaluate the implementation and acceptability of SCT and its potential treatment effectiveness in PVD. In the full-scale RCT, SCT will be compared to standard PVD treatment.MethodsA multimethod feasibility study with a single-arm before-after trial and qualitative interviews. Ten women with PVD, aged 18–33 were recruited from the Vulva Clinic at Oslo University Hospital. The intervention took place at Oslo Metropolitan University. Participants were assessed at baseline, post-treatment, and the 8-month follow-up with the tampon test and self-report questionnaires. The main feasibility outcomes were evaluation of recruitment rate, adherence to assessment tools, and follow-up rate. The participants’ experiences with the primary outcome and the intervention were explored with semi-structured interviews.ResultsTen out of 18 eligible patients were recruited over 11 weeks. None were lost to follow-up. Adherence to self-report questionnaires was excellent. Adherence to tampon tests and to the reporting of treatments was good, whereas adherence to the 14-day diary was poor. No adverse events were reported. The tampon test was suboptimal as a primary outcome. SCT was found to be an acceptable treatment, based on Global Perceived Effect scores and the participants’ experiences.ConclusionThe findings suggest that it is feasible to deliver a full-scale RCT of the SCT intervention for women with PVD. Some changes are suggested to optimize the protocol, such as increasing recruitment sites, change of primary outcome measures, and adding a booster session.Trial registrationClinicalTrials.govNCT04208204. Retrospectively registered on December 23, 2019.
School-based self-management intervention using theatre to improve asthma control in adolescents: a pilot cluster-randomised controlled trial
Authors: Harris Katherine , Newby Chris , Mosler Gioia , Steed Liz , Griffiths Chris , Grigg Jonathan 
Published: March 2022

Abstract
Background
Children with poorly controlled asthma have higher rates of unplanned healthcare use and school absences, as well as lower rates of medication adherence and knowledge. They also feel less comfortable using their medication at school, due to social fears and bullying. In this study, this was addressed through two school-based self-management interventions piloted to determine which one to use in a full trial.

Methods
We sought to assess the feasibility and acceptability of two school-based self-management intervention aimed at improving asthma control. Schools in London were randomised to (i) a theatre workshop for the whole year group aimed at raising awareness of asthma in schools, followed by self-management workshops for children (full intervention), (ii) theatre workshop alone (theatre only), or (iii) usual care (controls). Opt-out consent was obtained from parents. The study was a cluster randomised pilot trial, using London schools as the unit of allocation. Our primary aim was to assess the feasibility of delivering a self-management intervention in schools aimed at improving the asthma control test (ACT) score at 6 months. Secondary outcomes included acceptability of the school-based interventions, suitability of the theatre intervention and the full intervention with the self-management workshops, and generation of randomised data to inform future power calculations. Data were analysed by generalised mixed-effect models.

Results
The recruitment strategy for this trial was effective. Five schools were randomised to full intervention (189 children), four to theatre only (103 children), and six to controls (83 children). Asthma control test (ACT) score at baseline and 6 months was obtained from 178/358 participating children. Compared with the controls, there were no large differences found in ACT score with the full intervention; knowledge and perception of asthma improved though. GP and hospital visits increased in the full intervention group. Compared with controls, ACT score was unchanged in the theatre only group.

Conclusion
The asthma self-management intervention trial in schools is feasible and acceptable. The full intervention consisting of both theatre and self-management workshop for asthmatics tended to be better suited to improve outcomes than the theatre intervention on its own. This full intervention should be the one carried forward into a main trial if funding for further research was sought. Further work is needed to understand why there was evidence that unscheduled visits to healthcare professionals increased with the full intervention.

Trial registration
The study was registered on the clinical trials database on 14th May 2018 (ID NCT03536416).