bluuebunny/crossref_metadata_2025_split huggingface dataset:
Interventions to Reduce Hospital and Emergency Department Utilization Among People With Alcohol and Substance Use Disorders
Authors: Gardner Rebekah L. , Baier Rosa R. , Cooper Emily L. , Clements Erin E. , Belanger Emmanuelle 
Published: December 2021

Background:
Substance use disorders (SUDs), prevalent worldwide, are associated with significant morbidity and health care utilization.

Objectives:
To identify interventions addressing hospital and emergency department utilization among people with substance use, to summarize findings for those seeking to implement such interventions, and to articulate gaps that can be addressed by future research.

Research Design:
A scoping review of the literature. We searched PubMed, PsycInfo, and Google Scholar for any articles published from January 2010 to June 2020. The main search terms included the target population of adults with substance use or SUDs, the outcomes of hospital and emergency department utilization, and interventions aimed at improving these outcomes in the target population.

Subjects:
Adults with substance use or SUDs, including alcohol use.

Measures:
Hospital and emergency department utilization.

Results:
Our initial search identified 1807 titles, from which 44 articles were included in the review. Most interventions were implemented in the United States (n=35). Half focused on people using any substance (n=22) and a quarter on opioids (n=12). The tested approaches varied and included postdischarge services, medications, legislation, and counseling, among others. The majority of study designs were retrospective cohort studies (n=31).

Conclusions:
Overall, we found few studies assessing interventions to reduce health care utilization among people with SUDs. The studies that we did identify differed across multiple domains and included few randomized trials. Study heterogeneity limits our ability to compare interventions or to recommend one specific approach to reducing health care utilization among this high-risk population.
Prevalence and Characteristics of Avoidant/Restrictive Food Intake Disorder in Pediatric Neurogastroenterology Patients
Authors: Murray Helen Burton , Rao Fatima U. , Baker Corey , Silvernale Casey J. , Staller Kyle , Harshman Stephanie G. , Thomas Jennifer J. , Kuo Braden , Zar‐Kessler Claire 
Published: December 2021

ABSTRACTRecent reports document avoidant/restrictive food intake disorder (ARFID) symptoms among 13–40% of adults presenting to neurogastroenterology clinics, but ARFID in pediatrics is understudied. We conducted a retrospective review of charts from 129 consecutive referrals (ages 6–18 years; 57% female) for pediatric neurogastroenterology examination, from January 2016 through December 2018. Eleven cases (8%) met the full criteria for ARFID by the Diagnostic and Statistical Manual of Mental Disorders, 5th edition and 19 cases (15%) had clinically significant avoidant/ restrictive eating behaviors with insufficient information for a definitive ARFID diagnosis. Of patients with ARFID symptoms (n = 30), 20 (67%) cited fear of gastrointestinal symptoms as motivation for their avoidant/ restrictive eating. Compared to patients without ARFID symptoms, patients with ARFID symptoms were older (P < .001), more likely to be female (51% vs 79%, P = 0.014), and more frequently presented with eating/weight‐related complaints (15% vs 33%, P = 0.026). This pilot retrospective study showed ARFID symptoms present in 23% of pediatric neurogastroenterology patients; further research is needed to understand risk and maintenance factors of ARFID in the neurogastroenterology setting.
“First Five” Quality Improvement Program Increases Adherence and Continuity with Well-child Care
Authors: Bunik Maya , Galloway Kelly , Maughlin Mike , Hyman Daniel 
Published: December 2021

Introduction:
The American Academy of Pediatrics Bright Futures recommends routine well-child care as optimal care for children. This quality improvement project aimed to increase adherence to the “First Five” visits after newborn follow-up at 2, 4, 6, 9, and 12 months—by 25% (50% or higher) and continuity with providers by 20% (64% or higher) between 2013 and 2016.

Methods:
Retrospective data collection identified a quality gap, in which only 25% had the required well-child visits by the first year. We interviewed parents/caregivers of 12- to 15-month-old children for their perspectives on access to care, scheduling, and the medical home concept. Plan-Do-Study-Act cycles targeted modification of electronic medical record templates, scheduling, staff and parental education, standardization of work processes, and birth to 1-year age-specific incentives. We then piloted interventions in one of our clinic’s pod/subgroup. Process and outcome measures were analyzed using descriptive statistics, a run chart, and a 2-sample % Defective Test.

Results:
Parent/caregiver interviews revealed that only 6% knew what a medical home was, and only 40% “almost always saw the same provider for care.” At baseline in 2012, we documented completion of all 5 visits in only 25% of the children; <10% of those children had consecutive visits with the same provider. After multiple Plan-Do-Study-Act cycles and pilot, our “First Five” well-child care adherence rose to 78%, and continuity increased to 74% in 2018 (P < 0.001 for adherence, P < 0.001 for continuity).

Conclusion:
A multifaceted, evidence-based approach improved both well-child care adherence and provider continuity.
Surgical Accuracy of Positioning the Maxilla in Patients With Skeletal Class II Malocclusion Using Computer-Aided Design and Computer-Aided Manufacturing-Assisted Orthognathic Surgery
Authors: Alqussair Ali , Baek Seung-Hak , Kim Tae-Seup , Ha Sugn-Ho , Choi Jin-Young 
Published: December 2021

Objective:
To evaluate the surgical accuracy of positioning the maxilla in patients with skeletal class II malocclusion using computer-aided design and computer-aided manufacturing (CAD/ CAM)-assisted orthognathic surgery.

Materials and Methods:
The samples consisted of 10 patients with skeletal class II malocclusion, whose cone-beam computed tomographys taken before and immediately after surgery were available and who underwent bimaxillary orthognathic surgery by a single surgeon using Le Fort I osteotomy and bilateral sagittal split ramus osteotomy at the Department of Oral and Maxillofacial Surgery, Seoul National University Dental Hospital, Seoul, South Korea between January 2018 and December 2019. After virtual surgical planning was performed using the FACEGIDE system (Korea), surgical cutting guides, intermediate splints, and custom-made titanium mini-plates were fabricated using CAD/CAM technique. Using 8 landmarks (anterior nasal spine, point A, #16, #13, contact point between #11 and #21, #23, #26, posterior nasal spine), the mean differences between the virtually planned (Virtual) and actual postsurgical position of the maxilla (Actual) in the three-dimensional coordinates (ΔActual-Virtual) and their mean absolute deviations were investigated.

Results:
The mean differences of 8 landmarks were 0.42 mm left side movement in the transverse coordinate, 0.15 mm forward movement in the sagittal coordinate and 0.10 mm downward movement in the vertical coordinate. Their mean absolute deviations were 0.98, 0.67, and 0.62 mm in the sagittal, vertical, and transverse coordinates, respectively.

Conclusions:
Since the mean difference was less than 0.5 mm and the range of error was less than 1.0 mm, CAD/CAM-assisted orthognathic surgery might have a high degree of surgical accuracy and clinical relevance in the positioning of the maxilla.
Surgical Treatment of Cherubism With the Use of ThreeDimensional Virtual Planning and CAD-CAM Resection Guides: A Case Report and Systematic Literature Review
Authors: Järvinen Sanna , Suojanen Juho , Suomalainen Anni , Stoor Patricia 
Published: December 2021

Abstract:
We report the use of a three-dimensional virtual surgical planning technique including both fusion and superimposition to obtain harmony and symmetry of the face in an 18-year-old woman suffering from cherubism. The treatment contained several threedimensional techniques that allowed precise planning and a predictable surgical outcome. The reduction plasty was successful, and the postoperative healing was uneventful. No relapse of the disease occurred after the surgical treatment and the sensation of the mentalis area recovered. The patient was satisfied with the aesthetic result and no additional surgery was needed. The surgical planning techniques described, and the CAD/CAM patient-specific resection guides seems to be safe and reliable in a one-step surgical treatment of cherubism patients after the disease has clearly ceased based on radiological findings. A systematic review of the literature on surgical correction of deformities due to cherubism was conducted. The systematic review of the existing literature was performed on the available studies from PubMed and Ovid Medline published before June 9, 2020. The search term was ‘‘Cherubism.’’ The inclusion criteria were: 1) full article published in English and 2) the patient had surgical treatment. We excluded the cases that included only minor surgery as biopsy or only treatment of unerupted teeth. The database identified 638 citations of which 50 met the eligibility criteria. The systematic review revealed no earlier use of surgical 3D planning in the treatment of cherubism.
Uncovering a Long-term Graft Survival Advantage Afforded by Infant Renal Transplants—An Organ Procurement and Transplantation Network Database Analysis
Authors: Tancredi Daniel , Butani Lavjay 
Published: December 2021

Background.
Renal transplants (Tx) are performed infrequently in infants, due to concerns related to poor outcomes. The aim of our study was to compare graft failure rates in infant (<1 y) renal Tx recipients compared with older children.

Methods.
Retrospective cohort study of pediatric renal Tx recipients from 2000 to 2015, using the Organ Procurement and Transplant Network database. A log-linear event history regression model for time to graft failure, adjusting for age group and important confounders, was used to estimate post-Tx graft failure probabilities.

Results.
In 2696 Tx followed for a median of 6.1 y, 704 failures were observed. Significant predictors of graft failure were year of Tx (for each year after 2000, rates were 8.6% lower), Black race-ethnicity (63% higher compared with Whites), and number of HLA matches. For infants (n = 27), estimated graft failure percentage (95% confidence interval) within the first 1-, 2-, and 5-y post-Tx were 10.4 (0.1–21.1), 11.9 (1.2–22.6), and 16.4 (4.9–27.9). For the 1- to 11-y-olds (n = 1429), these were 3.8 (3.0–4.6), 6.3 (5.4–7.3), and 13.6 (12.2–15.0), respectively, and for the 12+ y olds (n = 1240), they were 3.8 (3.1–4.5), 8.1 (7.2–9.0), and 19.9 (18.1–21.7), respectively (P < 0.001 for 5-y graft failure rate across age groups).

Conclusions.
Infant renal Tx recipients experience a higher graft failure rate in the first year, compared with older cohorts, but over longer intervals, cumulative failure rates are comparable or even lower. To minimize early graft losses such Tx should be performed in experienced centers.
A Phenome Wide Association Study of Severe COVID-19 Genetic Risk Variants
Authors: Regan Jessica A. , Abdulrahim Jawan , Bihlmeyer Nathan , Haynes Carol , Kwee Lydia Coulter , Patel Manesh , Shah Svati H. 
Published: December 2021

AbstractBackgroundGenetic loci associated with risk of severe COVID-19 infection have been identified and individuals with complicated COVID-19 infections often have multiple comorbidities.ObjectiveIdentify known and unidentified comorbidities associated with genetic loci linked to risk of severe COVID-19 infection.MethodsA Phenome Wide Association Study (PheWAS) was conducted in 247,448 unrelated, white individuals from the UK Biobank to test the association of 1,402 unique phenotypes with ten genome-wide significant severe-COVID risk single nucleotide polymorphisms (SNP) identified from prior studies. A validation PheWAS was conducted in 2,247 white individuals from the CATHGEN.ResultsFour of the ten tested genetic loci showed significant phenotypic associations in UK Biobank after FDR adjustment. Vascular dementia significantly associated with rs7271165 near TMEM65 on 8q24.13 in individuals with the C risk allele (OR 5.66 [95% CI 2.21-11.85], q=0.049). We identified 40 novel phenotype associations with rs657152 on 9q34.2 coinciding with the ABO gene with individuals with the A COVID risk allele having higher odds of heart failure (OR 1.09 [95% CI 1.03-1.14], q=0.004), diabetes mellitus (OR 1.05 [95% CI 1.02-1.07], q=0.004) and hypercholesterolemia (OR 1.04 [95% CI 1.02-1.06], q=6.3×10−5). Eight phenotypes associated with rs1819040 near KANSL1 on 17q21.31 in individuals with the A risk allele including atrial fibrillation and flutter (OR 1.07 [95% CI 1.04-1.10], q=0.0084) and pulmonary fibrosis (OR 0.80 [95% CI 0.71-0.89], q=0.035). Ten novel phenotypic associations were identified in association with rs74956615 on 19p13.2 near the TYK2 gene including individuals with the A COVID risk allele having lower odds of psoriatic arthropathy (OR 0.31 [95% CI 0.20-0.47], q=4.5×10−5), rheumatoid arthritis (OR 0.83 [95% CI 0.64-0.83], p=1.4×10−6) and thyrotoxicosis with or without goiter (OR 0.77 [95% CI 0.68-0.87], p-6.9×10−5). Two associations for rs1819040 (KANSL1) and seven associations for rs74956615 (TYK2) validated in CATHGEN.ConclusionsUsing a broad PheWAS approach in a large discovery and validation cohort, we have identified novel phenotypic associations with risk alleles for severe COVID-19 infection. Interestingly, the ABO locus was associated with comorbidities that are also risk factors for severe COVID-19 infection, suggesting that this locus has pleiotropic effects and provides a potential mechanism for this association. The 19p13 locus was associated with lower risk of autoimmune disease, these findings may have broad implications for the importance of multiple comorbidities across both infectious and non-infectious diseases and may provide insight in the molecular function of the genes near these genetic risk loci.
Genetic insights into smoking behaviours in 10,558 men of African ancestry from continental Africa and the UK
Authors: Piga Noemi-Nicole , Boua Palwende Romuald , Soremekun Chisom , Shrine Nick , Coley Kayesha , Brandenburg Jean-Tristan , Tobin Martin D. , Ramsay Michèle , Fatumo Segun , Choudhury Ananyo , Batini Chiara 
Published: December 2021

AbstractSmoking is a leading risk factor for many of the top ten causes of death worldwide. Of the 1 billion smokers globally, 80% live in low- and middle-income countries, where the number of deaths due to tobacco use is expected to double in the next decade according to the World Health Organization. Genetic studies have helped to identify biological pathways for smoking behaviours, but have mostly focussed on individuals of European ancestry or living in either North America or Europe.Here we present a genome-wide association study of two smoking behaviour traits in 10,558 men of African ancestry living in five African countries and the UK. Eight independent variants were associated with either smoking initiation or cessation at p-value < 5 × 10−6. Of these, four were monomorphic or rare in European populations. Gene prioritization strategy highlighted five genes, including SEMA6D, previously described as associated with several smoking behaviour traits. These results confirm the importance of genetic epidemiological studies in underrepresented populations.
Confirmation of multi-parallel quantitative real-time PCR as the gold standard for detecting soil-transmitted helminths in stool
Authors: Papaiakovou Marina , Pilotte Nils , Dunn Julia , Littlewood David TJ , Cimino Rubén O , Krolewiecki Alejandro , Williams Steven A , Mejia Rojelio 
Published: December 2021

AbstractDue to its simplicity and cost-effectiveness, microscopy has seen extensive field-use as the diagnostic standard for the detection of soil-transmitted helminths (STH) in stool samples. However, the sensitivity of microscopy-based detection is inadequate in reduced-transmission settings where worm burden is oftentimes low. Equally problematic, eggs of closely related species oftentimes have indistinguishable morphologies, leading to species misidentification. In light of these shortcomings, the purpose of this study was to demonstrate multi-parallel quantitative real-time PCR (qPCR) as the new “gold standard” for STH detection. Accordingly, stool samples from non-endemic participants were spiked with limited numbers of eggs or larvae (1 to 40) of five different species of STH. DNA extracts were tested using two unique multi-parallel real-time PCR-based diagnostic methods. These methods employed different target sequences (ribosomal internal transcribed spacer, or highly repetitive non-coding regions), to evaluate the detection of DNA from as little as one egg per sample. There was a statistically significant kendall correlation between egg/larvae counts and qPCR from both methods for Trichuris trichiura (0.86 and 0.872 for NHM and Baylor assays) and a strong correlation (0.602 and 0.631 for NHM and Baylor assays, respectively) for Ascaris lumbricoides. Less strong but still significant was the Kendall Tau-b value for A. duodenale (0.408 for both) and for S. stercoralis (0.483 and 0.653, respectively). In addition, using field stool samples from rural Argentina both assays had fair to moderate kappa agreement (0.329-0.454), except for Strongyloides stercoralis (0.121) that both assays had slight agreement. In spite of the small cohort of samples, both qPCR assays, targeting of two independent genomic regions, provided reproducible results and we believe that, low cost multi-parallel quantitative real-time PCR-based diagnostics should supplant microscopy as the new gold standard for stool-based detection of soil transmitted helminths in public-health and community settings.
The protein organization of a red blood cell
Authors: Sae-Lee Wisath , McCafferty Caitlyn L. , Verbeke Eric J. , Havugimana Pierre C. , Papoulas Ophelia , McWhite Claire D. , Houser John R. , Vanuytsel Kim , Murphy George J. , Drew Kevin , Emili Andrew , Taylor David W. , Marcotte Edward M. 
Published: December 2021

SUMMARYRed blood cells (RBCs, erythrocytes) are the simplest primary human cells, lacking nuclei and major organelles, and instead employing about a thousand proteins to dynamically control cellular function and morphology in response to physiological cues. In this study, we defined a canonical RBC proteome and interactome using quantitative mass spectrometry and machine learning. Our data reveal an RBC interactome dominated by protein homeostasis, redox biology, cytoskeletal dynamics, and carbon metabolism. We validated protein complexes through electron microscopy and chemical crosslinking, and with these data, built 3D structural models of the ankyrin/Band 3/Band 4.2 complex that bridges the spectrin cytoskeleton to the RBC membrane. The model suggests spring-link compression of ankyrin may contribute to the characteristic RBC cell shape and flexibility. Taken together, our study provides an in-depth view of the global protein organization of human RBCs and serves as a comprehensive resource for future research.
The population genetics of adaptation through copy-number variation in a fungal plant pathogen
Authors: Stalder Luzia , Oggenfuss Ursula , Mohd-Assaad Norfarhan , Croll Daniel 
Published: December 2021

ABSTRACTMicrobial pathogens can rapidly adapt to changing environments such as the application of pesticides or host resistance. Copy number variations (CNV) are a major source of adaptive genetic variation for recent adaptation. Here, we analyze how a major fungal pathogen of barley,Rhynchosporium commune, has adapted to host environment, fungicide and temperature challenges. We screen the genomes of 126 isolates sampled across a worldwide set of populations and identify a total of 7’879 gene duplications and 116 gene deletions. Most gene duplications result from segmental chromosomal duplications. We find that genes showing recent gains or losses are enriched in functions related to host exploitation (i.e.effectors and cell wall degrading enzymes). We perform a phylogeny-informed genome-wide association study (GWAS) and identify 191 copy-number variants associated with different pathogenesis and temperature related traits, including a large segmental duplication ofCYP51Athat has contributed to the emergence of azole resistance. Additionally, we use a genome-wide SNP dataset to replicate the GWAS and contrast it with the CNV-focused analysis. We find that frequencies of adaptive CNV alleles show high variation among populations for traits under strong selection such as fungicide resistance. In contrast, adaptive CNV alleles underpinning temperature adaptation tend to be near fixation. Finally, we show that transposable elements are important drivers of recent gene copy-number variation. Loci showing signatures of recent positive selection are enriched in miniature inverted repeat transposons. Our findings show how extensive segmental duplications create the raw material for recent adaptation in global populations of a fungal pathogen.
Myosin phosphatase target subunit 1governs integrity of the embryonic gut epithelium to circumvent atresia development in medaka,Oryzias latipes
Authors: Kobayashi Daisuke , Matsuo Kazuhiko , Kimura Tetsuaki , Ansai Satoshi , Yokoi Hayato , Takashima Shigeo , Kitagawa Tadao , Kage Takahiro , Narita Takanori , Jindo Tomoko , Kinoshita Masato , Naruse Kiyoshi , Nakajima Yoshiro , Shigeta Masaki , Sakaki Shinichiro , Inoue Satoshi , Saba Rie , Yamada Kei , Yokoyama Takahiko , Ishikawa Yuji , Araki Kazuo , Saga Yumiko , Takeda Hiroyuki , Yashiro Kenta 
Published: December 2021

AbstractBackgroundIntestinal atresia (IA) is a congenital gut obstruction caused by the absence of gut opening. Genetic factors are assumed to be critical for the development of IA, in addition to accidental vascular insufficiency or mechanical strangulation. However, the molecular mechanism underlying IA remains poorly understood.ResultsIn this study, to better understand such a mechanism, we isolated a mutant ofOryzias latipes(the Japanese rice fish known as medaka) generated by N-ethyl-N-nitrosourea mutagenesis, in which IA develops during embryogenesis. Positional cloning identified a nonsense mutation in themyosin phosphatase target subunit 1(mypt1) gene. Consistent with known Mypt1 function, the active form of myosin regulatory light chain (MRLC), which is essential for actomyosin contraction, and F-actin were ectopically accumulated in the intestinal epithelium of mutant embryos, whereas cell motility, proliferation and cell death were not substantially affected. Corresponding to the accumulation site of F-actin/active MRLC, the intestinal epithelium architecture was disordered. Importantly, blebbistatin, a non-muscle myosin inhibitor, attenuated the development of IA in the mutant.ConclusionsCytoskeletal contraction governed bymypt1regulates the integrity of the embryonic intestinal epithelium. This study provides new insight into our understanding of the mechanism of IA development in humans.Bullet PointsMedakamypt1mutants display intestinal atresia.The level of phosphorylated myosin regulatory light chain was higher inmypt1mutant embryos than inwild-typeembryos.The levels of F-actin appeared elevated in the intestinal epithelium ofmypt1mutants.Blebbistatin, an inhibitor of non-muscle myosin II, rescued intestinal atresia inmypt1mutant embryos.