bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome
Authors: Wang Rui , Wang Wei-Qian , Li Xiao-Qin , Zhao Juan , Yang Kun , Feng Yong , Guo Meng-Meng , Liu Min , Liu Xing , Wang Xi , Yuan Yong-Yi , Gao Xue , Xu Jin-Cao 
Published: November 2021

AbstractMutations in the Forkhead Box C1 (FOXC1) are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, variable dental defects, craniofacial dysmorphism and hearing loss. Due to late-onset of ocular disorders and lack of typical presentation, clinical diagnosis presents a huge challenge. In this study, we described a pathogenic in-frame variant in FOXC1 in one 5-year-old boy who is presented with hypertelorism, pupil deformation in both eyes, conductive hearing loss, and dental defects. By whole exome sequencing, we identified a 3 bp deletion in FOXC1, c.516_518delGCG (p.Arg173del) as the disease-causing variant, which was de novo and not detected in the parents, and could be classified as a “pathogenic variant” according to the American College of Medical Genetics and Genomics guidelines. After confirmation of this FOXC1 variant, clinical data on Axenfeld-Rieger syndrome-associated clinical features were collected and analyzed. Furthermore, Although the affected individual present hearing loss, however, the hearing loss is conductive and is reversible during the follow-up, which might not linke to the FOXC1 variant and is coincidental. Routine examination of FOXC1 is necessary for the genetic diagnosis of hypertelorism-associated syndrome. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.
Concern about: Echinacoside exerts anti-tumor activity via the miR-503-3p/TGF-β1/Smad aixs in liver cancer
Authors: Lin Jiong 
Published: November 2021

AbstractWe concentrated on a paper in Cancer Cell International “Echinacoside exerts anti-tumor activity via the miR-503-3p/TGF-β1/Smad aixs in liver cancer”. Echinacoside may be a safe and effective anti-tumor agent for the treatment of liver cancer. However, some problems in this paper made us confused.
Vaccination distribution by community pharmacists under the COVID-19 vaccine appointment system in Taiwan
Authors: Lin Ya Wen , Lin Che Huei , Lin Ming Hung 
Published: November 2021

AbstractPharmacists play a critical role in implementing and promoting public health policies, particularly during pandemics, thanks to their exceptional skills, knowledge, expertise, and accessibility to the public. This study aimed to increase the roll-out of COVID-19 vaccines in a coordinated manner to ensure equal accessibility to all Taiwanese residents. A total of 3301 health insurance special pharmacies, equivalent to 80% of all community pharmacies in Taiwan, are assisting the public in scheduling vaccines. Once pharmacists had ensured adequate vaccine availability, vaccinations were scheduled depending on the time of registration on the platform for vaccination appointments. The roll-out of this program saw a significant number of people register and receive the vaccine throughout the country, and the number of individuals who received both a first and second dose increased significantly. Community pharmacy-based distribution of the vaccine to the public signifies the novel and innovative involvement of pharmacists in government initiatives to promote public health. Our study shows that community pharmacies can potentially enhance the efficiency and equitable distribution of health supplies and resources, particularly during pandemics.
Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report
Authors: Omoyinmi Ebun , Rowczenio Dorota , Sebire Neil , Brogan Paul A. , Eleftheriou Despina 
Published: November 2021

Abstract
Background
Mevalonate kinase deficiency (MKD) is a rare autoinflammatory condition caused by biallelic loss-of-function (LOF) mutations in mevalonate kinase (MVK) gene encoding the enzyme mevalonate kinase. Patients with MKD display a variety of non-specific clinical manifestations, which can lead to diagnostic delay. We report the case of a child presenting with vasculitis that was found by genetic testing to be caused by MKD, and now add this autoinflammatory disease to the ever-expanding list of causes of monogenic vasculitides.

Case presentation
A 2-year-old male presented with an acute 7-day history of high-grade fever, abdominal pain, diarrhoea, rectal bleeding and extensive purpuric and necrotic lesions, predominantly affecting the lower limbs. He had been suffering from recurrent episodes of fever from early in infancy, associated with maculopapular/petechial rashes triggered by intercurrent infection, and after vaccines. Extensive infection screen was negative. Skin biopsy revealed small vessel vasculitis. Visceral digital subtraction arteriography was normal. With a diagnosis of severe idiopathic cutaneous vasculitis, he was treated with corticosteroids and mycophenolate mofetil. Despite that his acute phase reactants remained elevated, fever persisted and the vasculitic lesions progressed. Next-generation sequencing revealed compound heterozygous mutation in MVK c.928G > A (p.V310M) and c.1129G > A (p.V377I) while reduced mevalonate enzyme activity was confirmed suggesting a diagnosis of MKD as a cause of the severe vasculitis. Prompt targeted treatment with IL-1 blockade was initiated preventing escalation to more toxic vasculitis therapies and reducing unnecessary exposure to cytotoxic treatment.

Conclusions
Our report highlights the broad clinical phenotype of MKD that includes severe cutaneous vasculitis and emphasizes the need to consider early genetic screening for young children presenting with vasculitis to exclude a monogenic vasculitis which may be amenable to targeted treatment.
The Middle East and COVID-19: time for collective action
Authors: Fawcett Louise 
Published: November 2021

AbstractRevised: Nov 6 2021The shortfalls of multilateral and regional organizations in respect of handling the COVID-19 pandemic have been well rehearsed by scholars and policy makers in multiple publications and statements. While the World Health Organization (WHO) and its regional offices have coordinated global responses, regional organizations, like the European Union, Association of Southeast Asian Nations, or African Union, have played complementary roles. However, the response of different regions has varied, revealing multiple deficits in the structures of regional governance. The Middle East and North Africa (MENA) is a region affected by chronic ongoing conflicts and serious inequalities in health and welfare provision, reflected in the absence of concerted responses to the pandemic. Its young population has meant lower comparative mortality rates, but the socio-economic spill-over effects are grave in terms of interrupted education, high unemployment, particularly in respect to vulnerable communities like refugees and migrant workers. With the current situation remaining critical, this paper reviews the impact of COVID-19 on MENA and considers the variable performance of states and institutions to the pandemic, highlighting the shortfalls, but also opportunities for collective action. Drawing on data from the WHO, United Nations (UN), regional organizations, media and secondary sources, it first discusses the wider global-regional context; second, reviews the actions of regional bodies, like the League of Arab States, Gulf Cooperation Council and the cross-regional Organization of Islamic Cooperation; and third, looks at some country-specific situations where both evidence of good practice and the absence of appropriate regional level provision have exposed deep regional divides. It concludes with a call for more collaboration between states and international organizations: better regional coordination is urgently needed to supplement existing multilateral efforts. A collective local response to the COVID-19 pandemic could help transcend regional divides and spur much-needed security cooperation in other areas.
The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein–Taybi syndromes
Authors: Ellis Katherine , Moss Jo , Stefanidou Chrysi , Oliver Chris , Apperly Ian 
Published: November 2021

AbstractBackgroundCornelia de Lange (CdLS), Fragile X (FXS) and Rubinstein–Taybi syndromes (RTS) evidence unique profiles of autistic characteristics. To delineate these profiles further, the development of early social cognitive abilities in children with CdLS, FXS and RTS was compared to that observed in typically developing (TD) and autistic (AUT) children.MethodsChildren with CdLS (N = 22), FXS (N = 19) and RTS (N = 18), completed the Early Social Cognition Scale (ESCogS). Extant data from AUT (N = 19) and TD (N = 86) children were used for comparison.ResultsSimilar to AUT children, children with CdLS, FXS and RTS showed an overall delay in passing ESCogS tasks. Children with CdLS showed a similar degree of delay to AUT children and greater delay than children with FXS and RTS. The CdLS, FXS and RTS groups did not pass tasks in the same sequence observed in TD and AUT children. Children with CdLS (p = 0.04), FXS (p = 0.02) and RTS (p = 0.04) performed better on tasks requiring understanding simple intentions in others significantly more than tasks requiring joint attention skills.ConclusionsAn underlying mechanism other than general cognitive delay may be disrupting early social cognitive development in children with CdLS, FXS and RTS. Factors that may disrupt early social cognitive development within these syndromes are discussed.
Children’s autistic traits and peer relationships: do non-verbal IQ and externalizing problems play a role?
Authors: Sari Novika Purnama , Luijk Maartje P. C. M. , Prinzie Peter , van IJzendoorn Marinus H. , Jansen Pauline W. 
Published: November 2021

AbstractBackgroundChildren with autism have difficulties in understanding relationships, yet little is known about the levels of autistic traits with regard to peer relationships. This study examined the association between autistic traits and peer relationships. Additionally, we examined whether the expected negative association is more pronounced in children with a lower non-verbal IQ and in those who exhibit more externalizing problems.MethodData were collected in a large prospective birth cohort of the Generation R Study (Rotterdam, the Netherlands) for which nearly 10,000 pregnant mothers were recruited between 2002 and 2006. Follow up data collection is still currently ongoing. Information on peer relationships was collected with PEERS application, an interactive computerized task (M = 7.8 years). Autistic traits were assessed among general primary school children by using the Social Responsiveness Scale (M = 6.1 years). Information was available for 1580 children.ResultHigher levels of autistic traits predicted lower peer acceptance and higher peer rejection. The interaction of autistic traits with externalizing problems (but not with non-verbal IQ or sex) was significant: only among children with low externalizing problems, a higher level of autistic traits predicted less peer acceptance and more peer rejection. Among children exhibiting high externalizing problems, a poor peer acceptance and high level of rejection is seen independently of the level of autistic traits.ConclusionWe conclude that autistic traits—including traits that do not classify as severe enough for a clinical diagnosis—as well as externalizing problems negatively impact young children’s peer relationships. This suggests that children with these traits may benefit from careful monitoring and interventions focused at improving peer relationships.
Testing the effects of the Shamiri Intervention and its components on anxiety, depression, wellbeing, and academic functioning in Kenyan adolescents: study protocol for a five-arm randomized controlled trial
Authors: Venturo-Conerly Katherine E. , Osborn Tom L. , Wasil Akash R. , Le Huong , Corrigan Emily , Wasanga Christine , Weisz John R. 
Published: November 2021

AbstractBackgroundTreatments for youth mental disorders are a public health priority, especially in sub-Saharan Africa (SSA), where treatment options remain limited due to high cost, elevated stigma, and lack of trained mental health professionals. Brief, accessible, and non-stigmatizing community-based interventions delivered by lay providers may help address treatment needs in SSA. One such intervention, the Shamiri Intervention, consisting of three elements (growth mindset, gratitude, and value affirmation) has been tested in randomized controlled trials with school-going Kenyan adolescents. This three-element Shamiri Intervention has been shown to significantly reduce depression and anxiety symptoms and improve social support and academic performance relative to a control group. In this trial, we aim to investigate the effects of each element of the Shamiri Intervention.MethodsIn this five-arm randomized controlled trial, we will test each of the intervention components (growth mindset, gratitude, and value affirmation) against the full Shamiri Intervention and against a study skills control intervention. Students (Nplanned= 1288) at participating secondary schools who are interested in participating in this universal intervention will be randomized in equal numbers into the five groups. The students will meet in groups of 8–15 students led by local high school graduate lay providers. These lay providers will receive a brief training, plus expert supervision once a week throughout the intervention delivery. Multi-level models will be used to compare trajectories over time of the primary outcomes (depressive symptoms, anxiety symptoms, academic performance, and wellness) and secondary outcomes in each intervention group to the control group. Multi-level models will also be used to compare trajectories over time of the primary outcomes (depressive symptoms, anxiety symptoms, academic performance, and wellness) and secondary outcomes of participants in the single-element interventions compared to the full Shamiri Intervention. Finally, effect sizes (calculated as mean gain scores) will be used to compare all groups on all measures.DiscussionThis trial will shed light on the mechanisms and outcomes targeted by each individual intervention, helping prioritize which mental health interventions are most important to disseminate.Trial registrationPACTR Trial ID: PACTR202104716135752. Approved on 4/19/2021.
Bilateral basal ganglia ischemia associated with COVID-19: a case report and review of the literature
Authors: Bhinder Khurram Khaliq , Siddiqi Ahsun Rizwan , Tahir Muhammad Junaid , Maqsood Hamza , Ullah Irfan , Yousaf Zohaib 
Published: November 2021

Abstract
Background
Coronavirus disease 2019, caused by the severe acute respiratory syndrome coronavirus 2, has a broad clinical spectrum, from asymptomatic to multi-organ dysfunction. Acute cerebrovascular events associated with coronavirus disease 2019 are mainly due to the severe acute respiratory syndrome coronavirus 2-induced prothrombotic state. Bilateral basal ganglia ischemia is rarely reported.

Case presentation
We report the case of a 64-year-old Asian (Pakistani) gentleman who presented initially with fever, cough, and shortness of breath, likely due to respiratory involvement by severe acute respiratory syndrome coronavirus 2. Later, he developed bilateral lower limb pain, followed by confusion and decreased level of consciousness. Accentuated large hypodense opacities were seen in the left and right basal ganglia, with mass effects on the left frontal horn.

Conclusion
This case demonstrates the importance of neuroimaging in the effective management of patients with neurological signs associated with coronavirus disease 2019.
Forest disturbances and the attribution derived from yearly Landsat time series over 1990–2020 in the Hengduan Mountains Region of Southwest China
Authors: Li Yating , Wu Zhenzi , Xu Xiao , Fan Hui , Tong Xiaojia , Liu Jiang 
Published: November 2021

Abstract
Background
Natural forests in the Hengduan Mountains Region (HDMR) have pivotal ecological functions and provide diverse ecosystem services. Capturing long-term forest disturbance and drivers at a regional scale is crucial for sustainable forest management and biodiversity conservation.

Methods
We used 30-m resolution Landsat time series images and the LandTrendr algorithm on the Google Earth Engine cloud platform to map forest disturbances at an annual time scale between 1990 and 2020 and attributed causal agents of forest disturbance, including fire, logging, road construction and insects, using disturbance properties and spectral and topographic variables in the random forest model.

Results
The conventional and area-adjusted overall accuracies (OAs) of the forest disturbance map were 92.3% and 97.70% ± 0.06%, respectively, and the OA of mapping disturbance agents was 85.80%. The estimated disturbed forest area totalled 3313.13 km2 (approximately 2.31% of the total forest area in 1990) from 1990 to 2020, with considerable interannual fluctuations and significant regional differences. The predominant disturbance agent was fire, which comprised approximately 83.33% of the forest area disturbance, followed by logging (12.2%), insects (2.4%) and road construction (2.0%). Massive forest disturbances occurred mainly before 2000, and the post-2000 annual disturbance area significantly dropped by 55% compared with the pre-2000 value.

Conclusions
This study provided spatially explicit and retrospective information on annual forest disturbance and associated agents in the HDMR. The findings suggest that China’s logging bans in natural forests combined with other forest sustainability programmes have effectively curbed forest disturbances in the HDMR, which has implications for enhancing future forest management and biodiversity conservation.
An optimization procedure for the soil behavior identification using pressuremeter results
Authors: Abed Younes 
Published: November 2021

AbstractThe soil parameters identification procedure is usually a trade-off between sophisticated soil model behaviour and the large number of parameters to identify. Such procedure that can accomplish both of these objectives is highly desirable, but also difficult. This paper presents a methodology for identifying soil parameters that takes into account different constitutive equations. For identifying the generalized Prager model parameters, associated to the Drucker and Prager failure criterion, using an in-situ pressuremeter curve, we have proposed a procedure that is based on an approach of inverse analysis. This approach involves the minimizing the function representing the area between the experimental curve and the simulated curve, obtained by fit in the model along the in-situ loading path. A comparative study between two optimization processes is proposed. The first is based on the technique of the simplex by Nelder and Mead, while the second is based on the decomposition of the pressuremeter curve in three distinct areas. After a brief description of an existing computer program called Press-Sim, which has been written in Fortran for analyzing a cavity expansion using the finite element method, a short explanation is given about the two optimization procedures considered in this article. Then, for a chosen site where soil strength parameters are measured, the comparative study has been performed for both methods at four different depths. For the determination of the angle of friction, the two procedures yield very close values and are in a good agreement with that given by the triaxial test, while for the cohesion, they both diverge from each other on both sides of the value measured by the trial test.
Assessing the social validity of a brief dietary survey for Sri Lankan adults with a focus on gender: a qualitative study
Authors: Renzella Jessica , Fernando Santhushya , Kalupahana Buwaneka , Rayner Mike , Scarborough Peter , Townsend Nick 
Published: November 2021

AbstractBackgroundAs the World Health Organization urges countries to strengthen their noncommunicable disease monitoring and surveillance activities, setting-specific innovations are emerging. Diet – a key, modifiable risk factor for chronic diseases – is particularly challenging to capture reliably. By socially validating self-report dietary survey tools, we may be able to increase the accuracy and representativeness of data for improved population health outcomes. The purpose of this study was to explore the factors that impact Sri Lankan Brief Dietary Survey (a newly developed tool) and 24-h Dietary Recall participation, engagement, and social validity among Sri Lankan adults.MethodsWe conducted semi-structured interviews with 93 participants (61 women and 32 men) in three Sri Lankan districts (Colombo, Kalutara, and Trincomalee). Interview data were analysed thematically and are presented as non-hierarchical thematic networks.ResultsParticipants identified a number of factors that influenced their survey participation and engagement. These included the time of day interviews occur, recall ease, level of commitment required, perceived survey value, emotional response to surveys, and interviewer positionality. Many of these factors were gendered, however, both female and male participants expressed a preference for engaging with socially valid research that they felt justified their personal investment in data collection. When explicitly asked to share ideas about how to improve the surveys, many participants opted not to provide suggestions as they felt they lacked the appropriate expertise.ConclusionsOur findings have implications for the accuracy and equity of dietary surveillance activities, and ultimately the appropriateness and effectiveness of programmes and policies informed by these data. Only through understanding how and why the target population engages with dietary research can we develop socially valid methods that assess and address the dietary risks of individuals and groups that are underrepresented by current conventions.