bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rare and low-frequency coding genetic variants contribute to pediatric-onset multiple sclerosis
Authors: Horton Mary K , Shim Joan E , Wallace Amelia , Graves Jennifer S , Aaen Gregory , Greenberg Benjamin , Mar Soe , Wheeler Yolanda , Weinstock-Guttman Bianca , Waldman Amy , Schreiner Teri , Rodriguez Moses , Tillema Jan-Mendelt , Chitnis Tanuja , Krupp Lauren , Casper T Charles , Rensel Mary , Hart Janace , Quach Hong L , Quach Diana L , Schaefer Catherine , Waubant Emmanuelle , Barcellos Lisa F 
Published: February 2023

Background: Rare genetic variants are emerging as important contributors to the heritability of multiple sclerosis (MS). Whether rare variants also contribute to pediatric-onset multiple sclerosis (POMS) is unknown. Objective: To test whether genes harboring rare variants associated with adult-onset MS risk ( PRF1, PRKRA, NLRP8, and HDAC7) and 52 major histocompatibility complex (MHC) genes are associated with POMS. Methods: We analyzed DNA samples from 330 POMS cases and 306 controls from the US Network of Pediatric MS Centers and Kaiser Permanente Northern California for which Illumina ExomeChip genotypes were available. Using the gene-based method “SKAT-O,” we tested the association between candidate genes and POMS risk. Results: After correction for multiple comparisons, one adult-onset MS gene ( PRF1, p = 2.70 × 10−3) and two MHC genes ( BRD2, p = 5.89 × 10−5 and AGER, p = 7.96 × 10−5) were significantly associated with POMS. Results suggest these are independent of HLA-DRB1*1501. Conclusion: Findings support a role for rare coding variants in POMS susceptibility. In particular, rare minor alleles within PRF1 were more common among individuals with POMS compared to controls while the opposite was true for rare variants within significant MHC genes, BRD2 and AGER. These genes would not have been identified by common variant studies, emphasizing the merits of investigating rare genetic variation in complex diseases.
Predicting future sleep problems in young autistic children
Authors: Shui Amy M , Lampinen Linnea A , Richdale Amanda , Katz Terry 
Published: February 2023

Sleep problems are common in autistic children and adversely impact daytime functioning. Knowledge of predictive factors could help with treatment and prevention of these problems. This study aimed to determine predictors of sleep problems among young autistic children. Study cohorts consisted of autistic children aged 2–5 years who did not have sleep problems at a first visit and had sleep measure data available at a subsequent visit. Sleep problems for five study cohorts were defined by different methods: Children’s Sleep Habits Questionnaire with two cutoff scores (41 and 48; cohort n = 101 and 204, respectively), Children’s Sleep Habits Questionnaire–autism derived cutoff score (35; n = 188), and parent- (n = 205) or clinician- (n = 252) report. Separate predictive models of sleep problems were developed in each cohort using multivariable logistic regression with final model predictors determined by backward elimination selection. Model performance was evaluated. Two of the five models had both adequate discrimination and calibration performance predicting (1) Children’s Sleep Habits Questionnaire score ⩾ 48 and (2) Children’s Sleep Habits Questionnaire–autism score ⩾ 35. In both models, self-injurious behavior, sensory issues, dental problems, and lower primary caregiver education level were significant risk factors of future sleep problems. These predictors may be useful in helping clinicians provide prevention strategies or early intervention for children who are at a higher risk of developing sleep problems. Lay abstract Sleep problems are common in autistic children and negatively impact daytime functioning. A method for predicting sleep problems could help with treatment and prevention of such problems. This study aimed to determine predictors of sleep problems among young autistic children. Study participants consisted of autistic children aged 2–5 years who did not have sleep problems at a first visit (Autism Treatment Network Registry) and had sleep data available at a subsequent visit (Registry Call-Back Assessment study). Sleep problems for five study cohorts of children were defined by different methods, including parent questionnaires and parent- or clinician-report of sleep problems. We found that self-injurious behavior, sensory issues, dental problems, and lower primary caregiver education level were significant risk factors of future sleep problems. These predictors may help clinicians provide prevention or earlier treatment for children who are at risk of developing sleep problems.
Potential for intestinal transplantation after acute mesenteric ischemia in patients aged less than 70 years: A population-based study
Authors: Lemma Aurora , Pikkarainen Sampsa , Pohju Anne , Tolonen Matti , Mentula Panu , Vikatmaa Pirkka , Leppäniemi Ari , Mäkisalo Heikki , Sallinen Ville 
Published: February 2023

Background and objective: Acute mesenteric ischemia (AMI) has a high mortality rate due to the development of bowel necrosis. Patients are often ruled outside active care if a large proportion of small bowel is necrotic. With the development of treatment for short bowel syndrome (SBS) and intestinal transplantation methods, long-term survival is possible even after extensive small bowel resections. This study aims to assess the incidence of SBS and potentially suitable candidates for intestinal transplantation among patients treated for AMI. Methods: This population-based retrospective study comprised patients aged less than 70 years and diagnosed with AMI between January 2006 and October 2020 in Helsinki and Uusimaa health care district, Finland. Results: Altogether, AMI was diagnosed in 711 patients, of whom 133 (19%) were aged below 70. An intervention was performed in 110 (83%) patients. Of these 133 patients, 16 (12%) were ruled outside active treatment due to extensive small bowel necrosis at exploratory laparotomy, of whom 6 (5%) were potentially suitable for intestinal transplantation. Two patients were considered as potential candidates for intestinal transplantation at bowel resection but died of AMI. Nine (7%) patients needed parenteral nutrition after resection, and two of them (2%) developed SBS. Only one patient needed long-term parenteral nutrition after hospital discharge. This patient remained dependent on parenteral nutrition but died before evaluation of intestinal transplantation could be carried out while the other patient was able to return to enteral nutrition. Conclusions: A small number of patients with AMI below 70 years of age are potentially eligible for intestinal transplantation.
Radio frequency ablation of dysplastic Barrett’s esophagus: Outcomes of a single-center registry
Authors: Mathiesen Molly , Holm Jakob , Thorsteinsson Morten 
Published: February 2023

Background and objective: Barrett’s esophagus (BE) is associated with an increased risk of esophageal adenocarcinoma. The use of radio frequency ablation (RFA) for complete eradication of BE with confirmed low-grade dysplasia (LGD) or high-grade dysplasia (HGD) has been promising in multicenter trials. Our aim was to evaluate the safety and efficacy outcomes associated with RFA for patients with BE and LGD/HGD in a single-center setting. Methods: This was a retrospective single-center study conducted at Department of Surgery and Transplantation, Rigshospitalet, Denmark. Data were collected from all patients who had undergone RFA for LGD or HGD from January 2014 to December 2018. Effectiveness outcomes were based on histology: complete eradication of dysplasia (CE-D), defined as all esophageal biopsies being negative for dysplasia at the last biopsy session, and complete eradication of intestinal metaplasia (CE-IM) defined as esophageal biopsies being without intestinal metaplasia. Safety outcomes were based on the proportion of complications to the RFA treatment. Results: A total of 107 patients were identified during the follow-up period (75% men, median age = 65 years); 83% had LGD and 17% had HGD. The median follow-up was 25 months. After the last RFA treatment, CE-D was achieved in 89%. CE-D and CE-IM were achieved in 60%. Complications occurred in 6.5% of the patients. Conclusions: In patients with BE and confirmed LGD or HGD, RFA was associated with a high rate of CE-D and a low risk of complications. The observed safety and efficacy outcomes were comparable with those previously reported in multicenter trials, showing that the Danish treatment of BE with LGD and HGD is comparable with those of larger European expert centers.
Management of Frontal Sinus Fractures at a Level 1 Trauma Center: Retrospective Study and Review of the Literature
Authors: Oslin Kimberly , Shikara Meryam , Yoon Joshua , Pope Pharibe , Bridgham Kelly , Waghmarae Suneet , Hebert Andrea , Liang Fan , Vakharia Kalpesh , Justicz Natalie 
Published: February 2023

Study Design Case series. Objective This retrospective review of frontal sinus fractures aims to describe our current experience managing these fractures at an urban level I trauma center. Methods An institutional database of 2081 patients who presented with maxillofacial fractures on computed tomography face/sinus in 2019 was queried for all patients with traumatic frontal sinus fractures. Demographics, trauma-related history, management approach, and follow-up data were collected and analyzed. Results Sixty-three (7.3%) patients had at least one fracture involving the frontal sinus. The most common etiologies were assaults, falls, and motor vehicle accidents. Surgical repair was performed in 26.8% of patients with frontal sinus fractures, and the other 73.2% were observed. Fractures that were displaced, comminuted, obstructive of the frontal sinus outflow tract, or associated with a dural tear or cerebrospinal fluid leak were more likely to be operative. Conclusions The majority of frontal sinus fractures in this study were treated with observation. Despite advances in transnasal endoscopic approaches, many surgeons still rely on open approaches to repair frontal sinus fractures.
Does Erector Spinae Plane Block Decrease Analgesia Requirements After Minimal-Invasive Posterior Transpedicular Stabilization in Patients With Vertebral Body Fracture? A Prospective, Randomized, Double-Blind Controlled Study
Authors: Holas Martin , Hlásny Jakub , Gajdoš Radomír , Venglarčík Michal , Šimko Peter , Schnake Klaus J. , Merjavy Peter , Pučan Tomáš , Šváč Juraj , Nagypál Robert , Hríň Tomáš , Botka Michal , Nosál´ Slavomír , Wimmerová Soňa 
Published: February 2023

Study design Prospective randomized placebo controlled double blind trial. Objective To examine the effect of ESP block after minimally invasive posterior stabilization for vertebral fractures on opioid consumption, pain, blood loss, disability level, and wound healing complications. Methodology Patients indicated for minimal invasive posterior stabilisation were included to the study. Our primary outcome was the opioid consumption and Visual Analogue Scale (VAS) measured during the first 48 hours. Secondary outcomes used to measure the short-term outcome included Oswestry Disability Index (ODI) and Patient Reported Outcome Spine Trauma (PROST). Results In total, 60 patients were included with a 93.3% follow-up. Average morphine consumption during the PACU (Post Anaesthesia Care Unit) period was 5.357 mg in ESP group and 8.607 mg in placebo group ( P = .004). Average VAS during first 24 hour was 3.944 in ESP group and 5.193 in placebo group ( P = .046). Blood loss was 14.8 g per screw in ESP group and 15.4 g in placebo group ( P = .387). The day2 PROST value was 33.9 in ESP group and 28.8 in placebo group ( P = .008) and after 4 weeks 55.2 in ESP group and 49.9 in placebo group ( P = .036). No significant differences in ODI were detected. Conclusion The use of ESP block in minimally invasive spinal surgery for posterior fracture stabilization leads to a significant reduction of opioid consumption during PACU stay by 37.7%. Reduction of opioid consumption was accompanied with lower pain (VAS). We found positive effect of the ESP block on short term outcome scores, but no effect on perioperative blood loss and wound healing.
Performance of village midwives in detecting neonatal emergency through self efficacy and work engagement as mediation: Cross-sectional study in Pamekasan Regency, Indonesia
Authors: Uktutias Sendy Ayu Mitra , Iswati Sri , Hadi Cholichul , Suhariadi Fendy , Utami Sri , Rahman Firman Suryadi 
Published: February 2023

Backgrounds: The government’s strategy in reducing the high infant mortality rate (IMR) in Indonesia is to place midwives in the village and use the Integrated Management of Young Infants (MTBM) guidelines that integrate all steps through early detection and effective treatment. Midwives have not shown maximum performance in neonatal coverage and neonatal complications, each of which has not reached the target. This study aims to analyze the effect of self-efficacy and work engagement on task performance in the Pamekasan Public Health Center Work Area. Designs and methods: This research was conducted as an analytic study with a cross-sectional study. A sample of 151 village midwives in each Puskesmas’ working area, was then analyzed and interpreted to test the model with SEMPLS. Results: Directly self-efficacy has no effect on performance (t statistic 0.315 < 1.96; p-value 0.753 > 0.05), self-efficacy affects work engagement (t statistic 13.98 > 1.96; p-value 0.000 < 0.05), while work engagement has an effect on performance (t statistic 11.426 > 1.96; p-value 0.000 > 0.05). Indirectly, self-efficacy will affect performance if it is through work engagement (t statistic 7.392 > 1.96; p-value 0.000 > 0.05). Conclusion: The findings show that self-efficacy and work engagement can help improve the performance of village midwives in detecting neonatal emergencies.
Integrating the serum proteomic and fecal metaproteomic to analyze the impacts of overweight/obesity on IBD: a pilot investigation
Authors: Yan Ping , Sun Yang , Luo Juan , Liu Xiaolin , Wu Jing , Miao Yinglei 
Published: February 2023

Abstract
Background
Inflammatory bowel disease (IBD) encompasses a group of chronic relapsing disorders which include ulcerative colitis (UC) and Crohn’s disease (CD). The incidences of IBD and overweight/obesity are increasing in parallel. Here, we investigated alterations in proteomic in serum and metaproteomic in feces of IBD patients with overweight/obesity and aimed to explore the effect of overweight/ obesity on IBD and the underlying mechanism.

Methods
This prospective observational study (n = 64) comprised 26 health control subjects (HC, 13 with overweight/obesity) and 38 IBD patients (19 with overweight/obesity) at a tertiary hospital. Overweight/obesity was evaluated by body mass index (BMI) and defined as a BMI greater than 24 kg/m2. The comprehensive serum proteomic and fecal metaproteomic analyses were conducted by ultra-performance liquid chromatography-Orbitrap Exploris 480 mass spectrometry.

Results
UC and CD presented similar serum molecular profiles but distinct gut microbiota. UC and CD serum exhibited higher levels of cytoskeleton organization- associated and inflammatory response-related proteins than the HC serum. Compared the serum proteome of UC and CD without overweight/obesity, inflammatory response-associated proteins were dramatically decreased in UC and CD with overweight/obesity. Fecal metaproteome identified 66 species in the feces. Among them, Parasutterella excrementihominis was increased in CD compared with that in HC. UC group had a significant enrichment of Moniliophthora roreri, but had dramatically decreased abundances of Alistipes indistinctus, Clostridium methylpentosum, Bacteroides vulgatus, and Schizochytrium aggregatum. In addition, overweight/obesity could improve the microbial diversity of UC. Specifically, the UC patients with overweight/obesity had increased abundance of some probiotics in contrast to those without overweight/obesity, including Parabacteroides distasonis, Alistipes indistincus, and Ruminococcus bromii.

Conclusion
This study provided high-quality multi-omics data of IBD serum and fecal samples, which enabled deciphering the molecular bases of clinical phenotypes of IBD, revealing the impacts of microbiota on IBD, and emphasizing the important role of overweight/obesity in IBD.
Isolated aphallia: a case report and review of literature
Authors: Sathaye Siddharth , Sathaye Ulhas 
Published: February 2023

Abstract
Background
Aphallia is a rarest of rare congenital anomaly the incidence being 1 in 10 to 30 million live births. Seen at birth, it leaves the parents and family disturbed. Immediate counselling though done; it may take time for the parents to come to a decision.

Case presentation
A newborn was brought for genital examination and since the penis was not present and the scrotum with testes were normal, aphallia was suspected. At 1 month after all the necessary investigations, isolated aphallia without any other congenital anomalies was confirmed. The options offered were gender reassignment before the age of 18 months or staged phallo and urethroplasty. Parents are so far undecided.

Conclusions
Aphallia results from failure of the genital tubercle to develop, leading to the absence of all the penile components. Diagnosis of aphallia includes the absence of the phallus, male karyotype and normally developed scrotum with normal testicles. Usually, this anomaly is associated with multiple other anomalies involving the urinary, gastrointestinal and musculoskeletal systems. Management of this condition is challenging and requires a multidisciplinary approach. In addition to managing the associated anomalies, the options to treat aphallia will depend on the type, severity of associated anomalies, family background and socioeconomic status of the family. Psychological counselling along with surgery (in the form of gender reassignment or phalloplasty) are the mainstays of treatment. The literature of this anomaly and the treatment is reviewed.
The burdock database: a multi-omic database for Arctium lappa, a food and medicinal plant
Authors: Song Yueyue , Yang Yanyun , Xu Liang , Bian Che , Xing Yanping , Xue Hefei , Hou Wenjuan , Men Wenxiao , Dou Deqiang , Kang Tingguo 
Published: February 2023

Abstract
Background
Burdock is a biennial herb of Asteraceae found in Northern Europe, Eurasia, Siberia, and China. Its mature dry fruits, called Niu Bang Zi, are recorded in various traditional Chinese medicine books. With the development of sequencing technology, the mitochondrial, chloroplast, and nuclear genomes, transcriptome, and sequence-related amplified polymorphism (SRAP) fingerprints of burdock have all been reported. To make better use of this data for further research and analysis, a burdock database was constructed.

Results
This burdock multi-omics database contains two burdock genome datasets, two transcriptome datasets, eight burdock chloroplast genomes, one burdock mitochondrial genome, one A. tomentosum chloroplast genome, one A. tomentosum mitochondrial genome, 26 phenotypes of burdock varieties, burdock rhizosphere-associated microorganisms, and chemical constituents of burdock fruit, pericarp, and kernel at different growth stages (using UPLC-Q-TOF–MS). The wild and cultivation distribution of burdock in China was summarized, and the main active components and pharmacological effects of burdock currently reported were concluded. The database contains ten central functional modules: Home, Genome, Transcriptome, Jbrowse, Search, Tools, SRAP fingerprints, Associated microorganisms, Chemical, and Publications. Among these, the “Tools” module can be used to perform sequence homology alignment (Blast), multiple sequence alignment analysis (Muscle), homologous protein prediction (Genewise), primer design (Primer), large-scale genome analysis (Lastz), and GO and KEGG enrichment analyses (GO Enrichment and KEGG Enrichment).

Conclusions
The database URL is http://210.22.121.250:41352/. This burdock database integrates molecular and chemical data to provide a comprehensive information and analysis platform for interested researchers and can be of immense help to the cultivation, breeding, and molecular pharmacognosy research of burdock.
Integrated transcriptomics and metabolomics analysis reveals key regulatory network that response to cold stress in common Bean (Phaseolus vulgaris L.)
Authors: Yang Xiaoxu , Liu Chang , Li Mengdi , Li Yanmei , Yan Zhishan , Feng Guojun , Liu Dajun 
Published: February 2023

AbstractCold temperatures can be detrimental to crop survival and productivity. Breeding progress can be improved by understanding the molecular basis of low temperature tolerance. We investigated the key routes and critical metabolites related to low temperature resistance in cold-tolerant and -sensitive common bean cultivars 120 and 093, respectively. Many potential genes and metabolites implicated in major metabolic pathways during the chilling stress response were identified through transcriptomics and metabolomics research. Under chilling stress, the expression of many genes involved in lipid, amino acid, and flavonoid metabolism, as well as metabolite accumulation increased in the two bean types. Malondialdehyde (MDA) content was lower in 120 than in 093. Regarding amino acid metabolism, 120 had a higher concentration of acidic amino acids than 093, whereas 093 had a higher concentration of basic amino acids. Methionine accumulation was clearly higher in 120 than in 093. In addition, 120 had a higher concentration of many types of flavonoids than 093. Flavonoids, methionine and malondialdehyde could be used as biomarkers of plant chilling injury. Transcriptome analysis of hormone metabolism revealed considerably greater, expression of abscisic acid (ABA), gibberellin (GA), and jasmonic acid (JA) in 093 than in 120 during chilling stress, indicating that hormone regulation modes in 093 and 120 were different. Thus, chilling stress tolerance is different between 093 and 120 possibly due to transcriptional and metabolic regulation.
Chronic atrophic gastritis in different ages in South China: a 10-year retrospective analysis
Authors: Zhang Zefeng , Zhang Xiaoguang 
Published: February 2023

Abstract
Objectives
To explore the prevalence, characteristics, age distribution and etiology changes of chronic atrophic gastritis (CAG) in South China.

Methods
This study included all patients who underwent endoscopy examinations from 2011 to 2020 in our hospital. Patients were divided into groups 1 (2011–2015) and 2 (2016–2020). The prevalence, characteristics, age distribution and etiology changes of CAG were compared between groups.

Results
Overall CAG prevalence was 20.92% (24,084/115,110) from 2011 to 2020; prevalence significantly differed between groups (18.78%, 8468/45,087, in group 1 and 22.30%, 15,616/70,023, in group 2). Patients with CAG had significantly younger age (under 45) and more corpus atrophy and more autoimmune atrophic gastritis (AAG) in group 2 than in group 1. AAG prevalence in group 2 was 30.11% (4702/15,616) significantly higher than 13.57% (1149/8468) in group 1. 82 patients with AAG later exhibited gastric cancer without obvious clinical features over the decade.

Conclusions
CAG is increasing and seems starting earlier among people during the study period. We need to focus on diagnosis and treatment of corpus related atrophy and AAG, especially for the young. Laboratory examination, endoscopic biopsy and surveillance are important for CAG.