bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole‐exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci
Authors: Al Anazi Abdulrahman H. , Ammar Ahmed S. , Al-Hajj Mahmoud , Cyrus Cyril , Aljaafari Danah , Khoda Iname , Abdelfatah Ahmed K. , Alsulaiman Abdullah A. , Alanazi Firas , Alanazi Rawan , Gandla Divya , Lad Hetal , Barayan Samar , Keating Brendan J. , Al-Ali Amein K. 
Published: December 2022

AbstractBackgroundEpilepsy, a serious chronic neurological condition effecting up to 100 million people globally, has clear genetic underpinnings including common and rare variants. In Saudi Arabia, the prevalence of epilepsy is high and caused mainly by perinatal and genetic factors. No whole-exome sequencing (WES) studies have been performed to date in Saudi Arabian epilepsy cohorts. This offers a unique opportunity for the discovery of rare genetic variants impacting this disease as there is a high rate of consanguinity among large tribal pedigrees.ResultsWe performed WES on 144 individuals diagnosed with epilepsy, to interrogate known epilepsy-related genes for known and functional novel variants. We also used an American College of Medical Genetics (ACMG) guideline-based variant prioritization approach in an attempt to discover putative causative variants. We identified 32 potentially causative pathogenic variants across 30 different genes in 44/144 (30%) of these Saudi epilepsy individuals. We also identified 232 variants of unknown significance (VUS) across 101 different genes in 133/144 (92%) subjects. Strong enrichment of variants of likely pathogenicity was observed in previously described epilepsy-associated loci, and a number of putative pathogenic variants in novel loci are also observed.ConclusionSeveral putative pathogenic variants in known epilepsy-related loci were identified for the first time in our population, in addition to several potential new loci which may be prioritized for further investigation.
Availability of best practices for opioid use disorder in jails and related training and resource needs: findings from a national interview study of jails in heavily impacted counties in the U.S.
Authors: Scott Christy K. , Grella Christine E. , Dennis Michael L. , Carnevale John , LaVallee Robin 
Published: December 2022

Abstract
Background
Jails are optimal settings in which to screen individuals for opioid use disorders (OUD) and provide needed services, especially medications for OUD (MOUD). This study sought to assess the availability of OUD “best practices” in jails located in counties heavily impacted by opioid overdose in the U.S. and their related training and resource needs. Counties were selected for study inclusion using two indicators of OUD severity: the absolute number and population rate of opioid overdose deaths. Structured interviews were completed with representatives from 185/244 (76%) of targeted counties and 185/250 (74%) of targeted jails in these counties. Ten OUD best practices were identified based on current treatment and practice guidelines. These include: screening for OUD; clinical assessment; medically managed withdrawal; MOUD administration; MOUD for pregnant people; counseling and wrap-around services; collaboration with community providers; assistance with Medicaid/insurance; re-entry services; and overdose prevention. Descriptive analyses examined the provision of any services and average percentage of services endorsed within best-practice categories, association of best-practice availability with community and jail characteristics, and related needs for training and resources.

Results
Over 70% of jail respondents indicated that some aspects of each of the ten OUD best practices were available within their jails, ranging from 71% using clinical assessment to 96% providing overdose prevention. However, there was considerable variability in the average percentage of items endorsed within each best-practice category, ranging from 38% of items regarding re-entry services to 88% of items regarding medically managed withdrawal. Availability of OUD best practices in jails also varied by community and jail characteristics. Jails reported the highest needs for funding for medication and clinical staff.

Conclusions
Policies are needed to address the identified gaps in availability of OUD best practices within jails. Training, technical assistance, and funding are needed to improve clinical capacity of jails to administer MOUD and to ensure continuity of care from jail to community, which are essential to reducing the risk of opioid-related overdose following release.
A future orientation intervention delivered through a smartphone application and virtual reality: study protocol for a randomized controlled trial
Authors: Mertens Esther C. A. , Siezenga Aniek M. , Tettero Tiffany , van Gelder Jean-Louis 
Published: December 2022

AbstractBackgroundShort-term mindsets are associated with self-defeating behaviors, such as delinquency and alcohol use. In contrast, people who consider the longer-term consequences of their decisions tend to report positive outcomes, like feeling more competent and enhanced goal achievement. We evaluate an intervention, FutureU, that aims to stimulate future-oriented thinking, increase goal achievement, and reduce self-defeating behavior, by strengthening people’s identification with their future self. The intervention will be delivered through a smartphone application (app) or immersive Virtual Reality (VR). We test the effectiveness of FutureU for both delivery methods, examine working mechanisms, and identify potential moderators of intervention effects.MethodsIn this Randomized Controlled Trial, a total of 240 first-year university students (n = 80 per condition) will be randomized into one of three conditions: (1) a smartphone condition, (2) a VR condition, and (3) an active control condition. We will assess proximal (i.e., future self-identification) and distal intervention outcomes (e.g., future orientation, self-defeating behaviors, goal achievement), user engagement, and examine usage data and goal content. Assessments will take place at baseline, during the intervention, immediately after the intervention, and at 3- and 6-months follow-up.DiscussionThis study will provide information on the effectiveness of the intervention and allows for comparisons between delivery methods using novel technologies, a smartphone app versus immersive VR. Knowledge gained through this study can be used for further intervention development as well as theory building.Trial registrationThis trial is registered on Clinicaltrials.gov (NCT05578755) on 13 October 2022.
Characterization of degradation and iron deposits of the wood of Nanhai I shipwreck
Authors: Zhang Hongying , Shen Dawa , Zhang Zhiguo , Ma Qinglin 
Published: December 2022

Abstract
Nanhai I shipwreck was a large wooden merchant ship (22.15 m in length and 9.85 m in width) built in the Southern Song Dynasty (1127–1279 A.D.) of China, which was heavily loaded with a large number of porcelain and iron artifacts. In the South China Sea, it was found in 1987 and lifted as a whole in 2007. Its excavation provides a precious opportunity to reveal the preservation status of Nanhai I shipwreck. Iron compounds give rise to challenges in conservation procedures and the long-term stability of Nanhai I shipwreck. In this paper, the degradation of the wood and the iron deposits in the wood structure are investigated from the aspects of microscopic morphology, composition, and distribution to evaluate the preservation state of the waterlogged wood. Physical parameters, chemical composition, and the results of elemental analysis, and FTIR analysis suggest that the cellulose of wood is degraded, and the relative concentration of lignin increases. The ash content varies greatly among different samples, and the element of the highest content in ash is iron. The study on transverse and longitudinal sections from samples indicate that the deposits are unevenly concentrated in the cell lumen, middle lamella, rays, and pits of the cell wall. The cell lumen is filled with deposits in areas close to the surface of the samples. The XRD analysis demonstrates that the deposits in wood are mainly iron deposits, containing compounds pyrite (FeS2), siderite (FeCO3), iron oxyhydroxides (FeOOH), and magnetite (Fe3O4). The micro-X-ray Fluorescence mapping analysis suggests that the content of iron is relatively richer while containing less sulfur on the exterior of the sample. The presence of iron deposits accelerates wood degradation and increases the safety hazards of shipwrecks in the preservation process. We hope that our findings can make a modest contribution to iron removal from waterlogged archeological wood and shipwreck conservation.
Minimum dietary diversity and associated factors among children aged 6-23 months in Enebsie Sar Midir Woreda, East Gojjam, North West Ethiopia
Authors: Assefa Dejenu , Belachew Tefera 
Published: December 2022

Abstract
Background
Dietary diversity has been recognized as a significant component of high-quality diets for children’s growth and development. Poor infant and young child feeding practices in the first one thousand days of age is the major contributor of malnutrition that leads to failure to thrive to their age, in low-income countries including Ethiopia. It causes long-term consequences of chronic malnutrition, including as stunting, has an impact on intellectual development, and raises the risk of several infectious diseases and death. There was no research done on the dietary diversity of the children in the study area.

Objective
The main objective of this study was to assess minimum dietary diversity and associated factors among children aged from 6-23 months in Enebsie Sar Midir Woreda.

Methods
A community-based cross-sectional study design was used to assess the minimum dietary diversity and associated factors among children aged 6–23 months in Enebsie Sar Midir Woreda, East Gojjam, North West Ethiopia. A total of 512 Mothers/caregivers of children of 6–23 months old in the community were included in the study using a systemic sampling technique. Data were collected by the interviewer-administered structured, pre-tested questionnaire. A 24-hour recall method was used to capture the dietary intake of children during the previous 24 h period before the interview. The data were coded and entered into SPSS for windows version 20 and analyzed after cleaning. Descriptive statistics and bivariate and multivariable logistic regression models were used to isolate independent predictors of minimum dietary diversity. All tests were two-sided and P < 0.05 was used for declaring statistical significance.

Results
The overall prevalence of minimum dietary diversity was 18.2% (CI: 14.8, 21.7). The dominant food groups consumed were roots, grains, and tubers. While consumption of vitamin A-rich fruits and vegetables and other vegetables were relatively low.
On multivariable logistic regression model, after adjusting for other variables, availability of cow’s milk at household (AOR = 17.27; 95% CI: 6.73, 44.44), cultivating vegetables (AOR = 3.2; 95% CI: 1.05, 9.8), availability of farmland (AOR= 10.15, 95%CI: 1.78, 57.93) and number of animals (AOR = 6.46; 95% CI: 1.97, 21.12) were significantly associated with minimum dietary diversity.

Conclusion
The proportion of infant and young children aged between 6-23months receiving minimum dietary diversity score is low compared with a study conducted in Addis Ababa. Availability of both animal and plant-source foods from household production was positively associated with practicing the minimum dietary diversity among children implying the need for strengthening nutrition-sensitive agricultural practices.
Beta-Adrenergic Receptor Blockade Effects on Cardio-Pulmonary Exercise Testing in Healthy Young Adults: A Randomized, Placebo-Controlled Trial
Authors: Forton Kevin , Lamotte Michel , Gillet Alexis , Chaumont Martin , van de Borne Philippe , Faoro Vitalie 
Published: December 2022

Abstract
Background
Beta-blockers are increasingly prescribed while the effects of beta-adrenergic receptor blockade on cardio-pulmonary exercise test (CPET)-derived parameters remain under-studied.

Methods
Twenty-one young healthy adults repeated three CPET at the same time with an interval of 7 days between each test. The tests were performed 3 h after a random, double-blind, cross-over single-dose intake of placebo, 2.5 mg or 5.0 mg bisoprolol, a cardio-selective beta1-adrenoreceptor antagonist. Gas exchange, heart rate (HR) and blood pressure (BP) were measured at rest and during cyclo-ergometric incremental CPET.

Results
Maximal workload and VO2max were unaffected by the treatment, with maximal respiratory exchange ratio > 1.15 in all tests. A beta-blocker dose-dependent effect reduced resting and maximal BP and HR and the chronotropic response to exercise, evaluated by the HR/VO2 slope (placebo: 2.9 ± 0.4 beat/ml/kg; 2.5 mg bisoprolol: 2.4 ± 0.5 beat/ml/kg; 5.0 mg bisoprolol: 2.3 ± 0.4 beat/ml/kg, p < 0.001). Ventilation efficiency measured by the VE/VCO2 slope and the ventilatory equivalent for CO2 at the ventilatory threshold were not affected by beta1-receptor blockade. Post-exercise chronotropic recovery measured after 1 min was enhanced under beta1-blocker (placebo: 26 ± 7 bpm; 2.5 mg bisoprolol: 32 ± 6 bpm; 5.0 mg bisoprolol: 33 ± 6 bpm, p < 0.01).

Conclusion
The present results suggest that a single dose of bisoprolol does not affect metabolism, respiratory response and exercise capacity. However, beta-adrenergic blockade dose dependently reduces exercise hemodynamic response by lowering BP and the chronotropic response.
A functional neuron maturation device provides convenient application on microelectrode array for neural network measurement
Authors: Han Xiaobo , Matsuda Naoki , Ishibashi Yuto , Odawara Aoi , Takahashi Sayuri , Tooi Norie , Kinoshita Koshi , Suzuki Ikuro 
Published: December 2022

Abstract

Background
Microelectrode array (MEA) systems are valuable for in vitro assessment of neurotoxicity and drug efficiency. However, several difficulties such as protracted functional maturation and high experimental costs hinder the use of MEA analysis requiring human induced pluripotent stem cells (hiPSCs). Neural network functional parameters are also needed for in vitro to in vivo extrapolation.

Methods
In the present study, we produced a cost effective nanofiber culture platform, the SCAD device, for long-term culture of hiPSC-derived neurons and primary peripheral neurons. The notable advantage of SCAD device is convenient application on multiple MEA systems for neuron functional analysis.

Results
We showed that the SCAD device could promote functional maturation of cultured hiPSC-derived neurons, and neurons responded appropriately to convulsant agents. Furthermore, we successfully analyzed parameters for in vitro to in vivo extrapolation, i.e., low-frequency components and synaptic propagation velocity of the signal, potentially reflecting neural network functions from neurons cultured on SCAD device. Finally, we measured the axonal conduction velocity of peripheral neurons. Conclusions: Neurons cultured on SCAD devices might constitute a reliable in vitro platform to investigate neuron functions, drug efficacy and toxicity, and neuropathological mechanisms by MEA.
EPMA quantification on the chemical composition of retained austenite in a Fe-Mn-Si-C-based multi-phase steel
Authors: Heo Yoon-Uk , Jeong Chang-Gon , Kim Soo-Hyun , Yoon Gun-Young , Trang T. T. T. , Woo Youngyun , Yoon Eun Yoo , Lee Young-Seon 
Published: December 2022

AbstractAn electron probe X-ray microanalyzer (EPMA) is an essential tool for studying chemical composition distribution in the microstructure. Quantifying chemical composition using standard specimens is commonly used to determine the composition of individual phases. However, the local difference in chemical composition in the standard specimens brings the deviation of the quantified composition from the actual one. This study introduces how to overcome the error of quantification in EPMA in the practical aspect. The obtained results are applied to evaluate the chemical composition of retained austenite in multi-phase steel. Film-type austenite shows higher carbon content than blocky-type one. The measured carbon contents of the retained austenite show good coherency with the calculated value from the X-ray diffraction.
GeneXpert analysis of bronchoalveolar lavage (BAL) samples: promising diagnostic modality in patients with smear-negative pulmonary tuberculosis
Authors: Rakha Mohammed Abdalla , Ali Asmaa , Hassan Waleed , Al-Anbay Eman 
Published: December 2022

AbstractPurposeThe aim of the study is to assess the diagnostic utility of bronchoalveolar lavage (BAL) samples with GeneXpert test in diagnosis of TB in smear-negative patients.MethodOne-hundred sixty-nine cases were included in this study, as they had a radiological finding suggested to have pulmonary tuberculosis, while the sputum direct smear examination for acid-fast bacilli was negative. All cases prepared to do fiber-optic bronchoscope with bronchoalveolar lavage collection after their consent and post bronchoscope sputum collection for further molecular and microbiological examination.ResultsThe combined diagnostic yield of all bronchoscopy procedures was 15.97% (27 cases of 169) and the final diagnosis of TB cases was established in 16 cases of 169 (9.4%) using BAL culture and in 20 cases of 169 (11.83%) by GeneXpert methods. Post bronchoscope direct sputum examination, culture, and GeneXpert evaluation gave diagnostic yield about 1.1%, 5.5%, and 7.1%, respectively. The specificity of GeneXpert examination of BAL and post bronchoscope sputum was 95.42% and 97.38%, respectively.ConclusionEarly detection of pulmonary tuberculosis using fiber-optic bronchoscope BAL examination and post bronchoscope sputum with GeneXpert method promotes the accurate decision to start antituberculous therapy in patients with smear negative.
Diagnosis and Management of Myasthenia Gravis
Authors: Hehir Michael K. , Li Yuebing 
Published: December 2022

ABSTRACTPURPOSE OF REVIEWThis article reviews updated diagnostic procedures and currently available treatment modalities for myasthenia gravis (MG).RECENT FINDINGSPatients with MG can be classified based on antibody status and their clinical presentation; treatment responses may differ based on disease subtypes. Improved diagnostic methods and recognition of new antigenic targets such as lipoprotein-related protein 4 have led to improved diagnostic efficiencies. Corticosteroids remain the first-line immunotherapy, but there is a trend toward minimizing their use at high doses and for long durations. Oral immunosuppressants such as mycophenolate mofetil, azathioprine, and tacrolimus remain useful. An international, multicenter randomized trial comparing thymectomy plus prednisone with prednisone alone demonstrated that thymectomy improves clinical outcomes in selected patients with nonthymomatous MG. Eculizumab, efgartigimod, and ravulizumab have recently been approved by the US Food and Drug Administration (FDA) for adult patients with generalized MG who are acetylcholine receptor–antibody positive. These drugs take advantage of novel mechanisms of action and expand treatment options for patients with MG. Data on rituximab suggest that it can be a good option, especially for patients with MG who are positive for antibodies against muscle-specific tyrosine kinase (MuSK). The number of clinical trials and drugs in development for MG is steadily increasing.SUMMARYThe diagnosis of MG can generally be made from the patient’s history, a neurologic examination, and laboratory and electrodiagnostic testing. Carefully selected treatment improves outcomes in MG. Additional treatment options for MG will likely be available in the near future.
Myotonic Dystrophy
Authors: Hamel Johanna I. 
Published: December 2022

ABSTRACT

PURPOSE OF REVIEW
Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and other organs. The multisystem involvement and disease variability of myotonic dystrophy have presented challenges for clinical care and research. This article focuses on the diagnosis and management of the disease. In addition, recent advances in characterizing the diverse clinical manifestations and variability of the disease are discussed.

RECENT FINDINGS
Studies of the multisystem involvement of myotonic dystrophy, including the most lethal cardiac and respiratory manifestations and their molecular underpinnings, expand our understanding of the myotonic dystrophy phenotype. Advances have been made in understanding the molecular mechanisms of both types of myotonic dystrophy, providing opportunities for developing targeted therapeutics, some of which have entered clinical trials in DM1.

SUMMARY
Continued efforts focus on advancing our molecular and clinical understanding of DM1 and DM2. Accurately measuring and monitoring the diverse and variable clinical manifestations of myotonic dystrophy in clinic and in research is important to provide adequate care, prevent complications, and find treatments that improve symptoms and life quality.
Lambert-Eaton Myasthenic Syndrome and Botulism
Authors: Raja Shruti M. 
Published: December 2022

ABSTRACT

PURPOSE OF REVIEW
This article reviews the pathophysiology, epidemiology, clinical features, diagnosis, and treatment of Lambert-Eaton myasthenic syndrome (LEMS) and botulism, presynaptic disorders of neuromuscular transmission in which rapid diagnosis improves long-term outcomes.

RECENT FINDINGS
Therapy for LEMS has seen significant advances in recent years due to the approval of amifampridine-based compounds. LEMS is likely still underdiagnosed, particularly when no underlying malignancy is identified. Clinicians must have a strong suspicion for LEMS in any patient presenting with proximal weakness and autonomic dysfunction. Botulism is another rare disorder of presynaptic neuromuscular transmission that is most commonly associated with improper storage or preservation of food products. Over the past 2 decades, wound botulism has been increasingly reported among users of black tar heroin. A high degree of clinical suspicion and electrodiagnostic studies can be beneficial in distinguishing botulism from other acute neurologic disorders, and early involvement of state and federal health authorities may assist in confirming the diagnosis and obtaining treatment. When botulism is suspected, electrodiagnostic studies can provide clinical evidence of disordered neuromuscular transmission in advance of serologic confirmation, and providers should not wait for confirmation of the diagnosis to initiate treatment.

SUMMARY
A targeted clinical history and a thorough neurologic examination with support from serologic and electrodiagnostic studies are key to early diagnosis of LEMS and botulism. Early diagnosis of both conditions creates opportunities for therapy and improves outcomes.