bluuebunny/crossref_metadata_2025_split huggingface dataset:
Looking ahead in the COVID-19 pandemic: emerging lessons learned for sexual and reproductive health services in low- and middle-income countries
Authors: Banke-Thomas Aduragbemi , Yaya Sanni 
Published: December 2021

AbstractThe COVID-19 pandemic has caused widespread disruption to essential health service provision globally, including in low- and middle-income countries (LMICs). Recognising the criticality of sexual and reproductive health (SRH) services, we review the actual reported impact of the COVID-19 pandemic on SRH service provision and evidence of adaptations that have been implemented to date. Across LMICs, the available data suggests that there was a reduction in access to SRH services, including family planning (FP) counselling and contraception access, and safe abortion during the early phase of the pandemic, especially when movement restrictions were in place. However, services were quickly restored, or alternatives to service provision (adaptations) were explored in many LMICs. Cases of gender-based violence (GBV) increased, with one in two women reporting that they have or know a woman who has experienced violence since the beginning of the pandemic. As per available evidence, many adaptations that have been implemented to date have been digitised, focused on getting SRH services closer to women. Through the pandemic, several LMIC governments have provided guidelines to support SRH service delivery. In addition, non-governmental organisations working in SRH programming have played significant roles in ensuring SRH services have been sustained by implementing several interventions at different levels of scale and to varying success. Most adaptations have focused on FP, with limited attention placed on GBV. Many adaptations have been implemented based on guidance and best practices and, in many cases, leveraged evidence-based interventions. However, some adaptations appear to have simply been the sensible thing to do. Where evaluations have been carried out, many have highlighted increased outputs and efficiency following the implementation of various adaptations. However, there is limited published evidence on their effectiveness, cost, value for money, acceptability, feasibility, and sustainability. In addition, the pandemic has been viewed as a homogenous event without recognising its troughs and waves or disentangling effects of response measures such as lockdowns from the pandemic itself. As the pandemic continues, neglected SRH services like those targeting GBV need to be urgently scaled up, and those being implemented with any adaptations should be rigorously tested.
Trends and correlates of HIV prevalence among adolescents in South Africa: evidence from the 2008, 2012 and 2017 South African National HIV Prevalence, Incidence and Behaviour surveys
Authors: Mabaso Musawenkosi , Maseko Goitseone , Sewpaul Ronel , Naidoo Inbarani , Jooste Sean , Takatshana Sinovuyo , Reddy Tarylee , Zuma Khangelani , Zungu Nompumelelo 
Published: December 2021

Abstract
Background
Adolescents are at increased risk of HIV infection compared to other age groups. There is an urgent need for strategic information that will inform programmes to reduce risk and vulnerability to HIV and reverse the pattern of increasing HIV infection as they transition to adulthood. This paper analysed trends and factors associated with HIV prevalence among adolescents in South Africa using the national HIV population-based household surveys conducted in 2008, 2012 and 2017.

Methods
All three surveys used a multistage cross-sectional design. A trend analysis was conducted to assess the differences in HIV prevalence and covariates overtime using P-trend Chi-squared statistic. Univariate and multivariate logistic regression models were used to determine factors associated with HIV prevalence.

Results
Overall there was a significant increase in HIV prevalence among adolescents aged 12–19 years from 3.0% (n = 2892) in 2008 to 3.2% (n = 4829) in 2012 and 4.1% (n = 3937) in 2017 (p = 0.031). The odds of being HIV positive among adolescents aged 12–19 years was significantly higher among females [AOR = 2.24; 95% CI (1.73–2.91); p < 0.001] than males, those residing in KwaZulu-Natal province [AOR = 2.01; 95% CI (1.-3.99); p = 0.027] than Northern Cape, and those who did not attend an educational institution and were unemployed [AOR = 2.66; 95% CI (1.91–3.67); p < 0.001] compared to those attending an educational institution. The odds were significantly lower among Whites [AOR = 0.29; 95% CI (0.09–0.93); p = 0.037], Coloureds [AOR = 0.21; 95% CI (0.11–0.37); p ≤ 0.001] and Indian/Asian [AOR = 0.08; 95% CI (0.02–0.34); p = 0.001] population groups than Black Africans.

Conclusion
The observed increasing trend and gender disparities in HIV prevalence suggests an urgent need for age appropriate and gender specific HIV interventions tailored and targeted at identified drivers of HIV infection among adolescents.
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up
Authors: Demaret Tanguy , Lacaille Florence , Wicker Camille , Arnoux Jean-Baptiste , Bouchereau Juliette , Belloche Claire , Gitiaux Cyril , Grevent David , Broissand Christine , Adjaoud Dalila , Abi Warde Marie-Thérèse , Plantaz Dominique , Bekri Soumeya , de Lonlay Pascale , Brassier Anaïs 
Published: December 2021

Abstract
Background
Wolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death before 12 months of age. In clinical trials, enzyme replacement therapy (ERT) with sebelipase alfa led to improved survival, growth and biological parameters in WD patients followed up to 5 years. Long-term follow-up and health-related quality of life (HRQoL) evaluation are lacking.

Results
We performed a nationwide, retrospective study of sebelipase alfa in WD patients. Five patients with abolished LAL activity and bi-allelic LIPA mutations were included with a median follow-up of 7 years (1–10). ERT was initiated at a median age of 1 month (0–4). Infusion tolerance was excellent on the long-term with only one patient requiring systematic pre-medication. Cholestyramine, fat-soluble vitamin supplements and a specific diet (high in medium-chain triglycerides and low in long-chain fatty acids) were prescribed. Liver function tests, plasma lipid profiles, fat-soluble vitamin levels and growth parameters improved. Three patients transiently exhibited a neuromyopathic phenotype (footdrop gait, waddling walk or muscle fatigue) but electromyography and muscle strength testing were normal. At last follow-up, all patients were alive with normal growth parameters and a satisfactory HRQoL, no patient had special education needs, and one patient required parenteral nutrition since an acute gastroenteritis.

Conclusions
Early ERT initiation allowed 100% survival with positive outcomes. Very long-term follow-up and hematopoietic stem cell transplantation while on ERT should be evaluated to strengthen the benefits of sebelipase alfa.
Leukocyte telomere length and amyotrophic lateral sclerosis: a Mendelian randomization study
Authors: Xia Kailin , Zhang Linjing , Zhang Gan , Wang Yajun , Huang Tao , Fan Dongsheng 
Published: December 2021

Abstract
Background
Observational studies have suggested that telomere length is associated with amyotrophic lateral sclerosis (ALS). However, whether this association is causal remains unclear. In this study, we aimed to explore the causal relationship between leukocyte telomere length (LTL) and ALS by a two-sample Mendelian randomization (MR) approach. Single-nucleotide polymorphisms (SNPs) for LTL were identified through high-quality genome-wide association studies (GWASs). The ALS GWAS summary data (20,806 cases; 59,804 controls) with largest sample size to date was obtained. We adopted the inverse variance weighted (IVW) method to examine the effect of LTL on ALS and used the weighted median method, simple median method, MR Egger method and MR-PRESSO method to perform sensitivity analyses.

Results
We found that genetically determined increased LTL was inversely associated with the risk of ALS (odds ratio (OR) = 0.846, 95% confidence interval (CI): 0.744–0.962, P = 0.011), which was mainly driven by rs940209 in the OBFC1 gene, suggesting a potential effect of OBFC1 on ALS. The results were further confirmed by sensitivity analysis with the MR Egger method (OR = 0.647, 95% CI = 0.447–0.936, P = 0.050). Analyses by the weighted median method (OR = 0.893, P = 0.201) and simple median method (OR = 0.935, P = 0.535) also showed a similar trend. The MR Egger analysis did not suggest directional pleiotropy, with an intercept of 0.025 (P = 0.168). Neither the influence of instrumental outliers nor heterogeneity was found.

Conclusions
Our results suggest that genetically predicted increased LTL has a causal relationship with a lower risk of ALS. Protecting against telomere loss may be of great importance in the prevention and treatment of ALS.
On the outside looking in: a phenomenological study of the lived experience of Australian adults with a disorder of the corpus callosum
Authors: Maxfield Maree , Cooper Monica S. , Kavanagh Anne , Devine Alexandra , Gill Atkinson Liz 
Published: December 2021

Abstract
Background
While classified as a rare condition, a congenital disorder of the corpus callosum (DCC) is one of the most commonly identified brain anomalies in newborns, occurring in 1:4000 live births. Advances in imaging techniques have improved early diagnosis for children, yet adults with a DCC—who may present with extreme heterogeneity in cause and impact—often experience challenges in receiving a definitive diagnosis and accessing appropriate services and supports. To date, the dearth of evidence documenting the lived experiences of adults with DCC has made it difficult to determine adequate policy and service responses. This exploratory research aims to address this gap by presenting the first qualitative examination of the experiences and impact of complete or partial agenesis of the corpus callosum among adults.

Results
Eight face-to-face interviews were conducted with Australian adults, aged 23–72 years, to explore their lived experience. Data was collected in four Australian states from June to August 2017. Thematic and interpretive analyses were employed to analyse data. Three emergent themes described difficulties related to: (1) reactions to the diagnosis; (2) access to supports and key life domains, and (3) identifying as an adult. Interview analysis described lived experiences typically outlining a lifetime of exclusion and misunderstanding from family, educators and disability and health support services.

Conclusions
This paper contributes to filling the knowledge gap around a rare congenital brain disorder affecting the lives of adults. Findings confirm a considerable lack of information and support for adults living with corpus callosum disorders. Greater professional and societal understanding is needed to improve access to the key life domains of education, employment and social inclusion for adults with a DCC. To instigate truly effective change, social research must tackle the issues of applicability and impact to alter the dominance of uninformed practices, hindered by prevailing myths. This research paves the way for further phenomenological studies in which participant narrative is vital. Further research will elicit stronger policy and service responses for all current and emerging adults with a DCC.
Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections
Authors: Zhu Guoyan , Luo Mingyao , Chen Qianlong , Zhang Yinhui , Zhao Kun , Zhang Yujing , Shu Chang , Yang Hang , Zhou Zhou 
Published: December 2021

Abstract
Background
Thoracic aortic aneurysm and dissection (TAAD) is a hidden-onset but life-threatening disorder with high clinical variability and genetic heterogeneity. In recent years, an increasing number of genes have been identified to be related to TAAD. However, some genes remain uncertain because of limited case reports and/or functional studies. LTBP3 was such an ambiguous gene that was previously known for dental and skeletal dysplasia and then noted to be associated with TAAD. More research on individuals or families harboring variants in this gene would be helpful to obtain full knowledge of the disease and clarify its association with TAAD.

Methods
A total of 266 TAAD probands with no causative mutations in known genes had been performed wholeexome sequencing (WES) to identify potentially pathogenic variants. In this study, rare LTBP3 variants were the focus of analysis.

Results
Two compound heterozygous mutations, c.625dup (p.Leu209fs) and c.1965del (p.Arg656fs), in LTBP3 were identified in a TAAD patient along with short stature and dental problems, which was the first TAAD case with biallelic LTBP3 null mutations in an Asian population. Additionally, several rare heterozygous LTBP3 variants were also detected in other sporadic TAAD patients.

Conclusion
The identification of LTBP3 mutations in TAAD patients in our study provided more clinical evidence to support its association with TAAD, which broadens the gene spectrum of LTBP3. LTBP3 should be considered to be incorporated into the routine genetic analysis of heritable aortopathy, which might help to fully understand its phenotypic spectrum and improve the diagnostic rate of TAAD.
Genetic testing and diagnosis of inherited retinal diseases
Authors: Lam Byron L. , Leroy Bart P. , Black Graeme , Ong Tuyen , Yoon Dan , Trzupek Karmen 
Published: December 2021

AbstractInherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of the considerable phenotypic overlap among IRDs, genetic testing is a critical step in obtaining a definitive diagnosis for affected individuals and enabling access to emerging gene therapy–based treatments and ongoing clinical studies. While advances in molecular diagnostic technologies have significantly improved the understanding of IRDs and identification of disease-causing variants, training in genetic diagnostics among ophthalmologists is limited. In this review, we will provide ophthalmologists with an overview of genetic testing for IRDs, including the types of available testing, variant interpretation, and genetic counseling. Additionally, we will discuss the clinical applications of genetic testing in the molecular diagnosis of IRDs through case studies.
Clinical features and predictors of mortality among hospitalized patients with COVID-19 in Niger
Authors: Katoto Patrick D. M. C. , Aboubacar Issoufou , Oumarou Batouré , Adehossi Eric , Anya Blanche-Philomene Melanga , Mounkaila Aida , Moustapha Adamou , Ishagh El khalef , Diawara Gbaguidi Aichatou , Nsiari-Muzeyi Biey Joseph , Didier Tambwe , Wiysonge Charles Shey 
Published: December 2021

Abstract
Introduction
COVID-19 has spread across the African continent, including Niger. Yet very little is known about the phenotype of people who tested positive for COVID-19. In this humanitarian crises region, we aimed at characterizing variation in clinical features among hospitalized patients with COVID-19-like syndrome and to determine predictors associated with COVID-19 mortality among those with confirmed COVID-19.

Methods
The study was a retrospective nationwide cohort of hospitalized patients isolated for COVID-19 infection, using the health data of the National Health Information System from 19 March 2020 (onset of the pandemic) to 17 November 2020. All hospitalized patients with COVID-19-like syndrome at admission were included. A Cox-proportional regression model was built to identify predictors of in-hospital death among patients with confirmed COVID-19.

Results
Sixty-five percent (472/729) of patients hospitalized with COVID-19 like syndrome tested positive for SARS-CoV-2 among which, 70 (15%) died. Among the patients with confirmed COVID-19 infection, age was significantly associated with increased odds of reporting cough (adjusted odds ratio [aOR] 1.02; 95% confidence interval [CI] 1.01–1.03) and fever/chills (aOR 1.02; 95% CI 1.02–1.04). Comorbidity was associated with increased odds of presenting with cough (aOR 1.59; 95% CI 1.03–2.45) and shortness of breath (aOR 2.03; 95% CI 1.27–3.26) at admission. In addition, comorbidity (adjusted hazards ratio [aHR] 2.04; 95% CI 2.38–6.35), shortness of breath at baseline (aHR 2.04; 95% CI 2.38–6.35) and being 60 years or older (aHR 5.34; 95% CI 3.25–8.75) increased the risk of COVID-19 mortality two to five folds.

Conclusion
Comorbidity, shortness of breath on admission, and being aged 60 years or older are associated with a higher risk of death among patients hospitalized with COVID-19 in a humanitarian crisis setting. While robust prospective data are needed to guide evidence, our data might aid intensive care resource allocation in Niger.
Integrative analysis of the salt stress response in cyanobacteria
Authors: Klähn Stephan , Mikkat Stefan , Riediger Matthias , Georg Jens , Hess Wolfgang R. , Hagemann Martin 
Published: December 2021

AbstractMicroorganisms evolved specific acclimation strategies to thrive in environments of high or fluctuating salinities. Here, salt acclimation in the model cyanobacterium Synechocystis sp. PCC 6803 was analyzed by integrating transcriptomic, proteomic and metabolomic data. A dynamic reorganization of the transcriptome occurred during the first hours after salt shock, e.g. involving the upregulation of genes to activate compatible solute biochemistry balancing osmotic pressure. The massive accumulation of glucosylglycerol then had a measurable impact on the overall carbon and nitrogen metabolism. In addition, we observed the coordinated induction of putative regulatory RNAs and of several proteins known for their involvement in other stress responses. Overall, salt-induced changes in the proteome and transcriptome showed good correlations, especially among the stably up-regulated proteins and their transcripts. We define an extended salt stimulon comprising proteins directly or indirectly related to compatible solute metabolism, ion and water movements, and a distinct set of regulatory RNAs involved in post-transcriptional regulation. Our comprehensive data set provides the basis for engineering cyanobacterial salt tolerance and to further understand its regulation.
Weight cycling in combat sports: revisiting 25 years of scientific evidence
Authors: Lakicevic Nemanja , Mani Diba , Paoli Antonio , Roklicer Roberto , Bianco Antonino , Drid Patrik 
Published: December 2021

Abstract
Background
As combat sports are classified by body mass, many athletes engage in rapid weight loss (RWL) prior to competition so they can gain an advantage over lighter opponents. Following the weigh-in, athletes engage in rapid weight gain (RWG), whereby some athletes have been able to compete up to three weight categories greater than the official division weighed in at.

Results
Although the impact of weight cycling on performance remains equivocal, robust scientific evidence indicates serious acute and chronic negative consequences on physiological and health-related parameters. Still, weight cycling remains highly prevalent in combat sports, and interventions to limit or stop this cultural norm are recommended.

Conclusions
Weigh-ins for combat sports should be transitioned to take place closer to the start of competition. This reduced time and access to engage in RWG will cut down, if not completely prevent, weight cycling. These rule changes that aim to benefit athlete’s health and promote fairness must be made at the international level, which will promote them at those levels below, as well, given qualification protocols.
Effects of plant growth regulators on transient expression of foreign gene in Nicotiana benthamiana L. leaves
Authors: Li Ying , Sun Min , Wang Xin , Zhang Yue-Jing , Da Xiao-Wei , Jia Ling-Yun , Pang Hai-Long , Feng Han-Qing 
Published: December 2021

Abstract
Background
In the last decades, replicating expression vectors based on plant geminivirus have been widely used for enhancing the efficiency of plant transient expression. By using the replicating expression vector derived from bean yellow dwarf virus and green fluorescent protein as a reporter, we investigated the effects of α-naphthalene acetic acid, gibberellins3, and 6-benzyladenine, as three common plant growth regulators, on the plant biomass and efficiency of transient expression during the process of transient expression in Nicotiana benthamiana L. leaves.

Results
With the increase of the concentration of α-naphthalene acetic acid, gibberellins3, and 6-benzyladenine (from 0.1 to 1.6 mg/L), the fresh weight, dry weight, and leaf area of the seedlings increased first and then returned to the levels similar to the controls (without chemical treatment). The treatment with α-naphthalene acetic acid at 0.2 and 0.4 mg/L can enhance the level of transient expression of green fluorescent protein, which peaked at 0.4 mg/L α-naphthalene acetic acid and was increased about by 19%, compared to the controls. Gibberellins3 at 0.1–0.4 mg/L can enhance the level of transient expression of green fluorescent protein, which peaked at 0.2 mg/L gibberellins3 and was increased by 25%. However, the application of 6-benzyladenine led to decrease in the level of transient expression of green fluorescent protein.

Conclusions
The appropriate plant growth regulators at moderate concentration could be beneficial to the expression of foreign genes from the Agrobacterium-mediated transient expression system in plants. Thus, appropriate plant growth regulators could be considered as exogenous components that are applied for the production of recombinant protein by plant-based transient expression systems.
Development of a plasmid stabilization system in Vibrio natriegens for the high production of 1,3-propanediol and 3-hydroxypropionate
Authors: Zhang Ye , Sun Qing , Liu Yu , Cen Xuecong , Liu Dehua , Chen Zhen 
Published: December 2021

AbstractVibrio natriegens is a promising industrial chassis with a super-fast growth rate and high substrate uptake rates. V. natriegens was previously engineered to produce 1,3-propanediol (1,3-PDO) from glycerol by overexpressing the corresponding genes in a plasmid. However, antibiotic selection pressure for plasmid stability was not satisfactory and plasmid loss resulted in reduced productivity of the bioprocess. In this study, we developed an antibiotic-free plasmid stabilization system for V. natriegens. The system was achieved by shifting the glpD gene, one of the essential genes for glycerol degradation, from the chromosome to plasmid. With this system, engineered V. natriegens can stably maintain a large expression plasmid during the whole fed-batch fermentation and accumulated 69.5 g/L 1,3-PDO in 24 h, which was 23% higher than that based on antibiotic selection system. This system was also applied to engineering V. natriegens for the production of 3-hydroxypropionate (3-HP), enabling the engineered strain to accumulate 64.5 g/L 3-HP in 24 h, which was 30% higher than that based on antibiotic system. Overall, the developed strategy could be useful for engineering V. natriegens as a platform for the production of value-added chemicals from glycerol.
Graphic Abstract