bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mitochondrial gene defects in Arabidopsis can broadly affect mitochondrial gene expression through copy number
Authors: Ayabe Hiroki , Toyoda Atsushi , Iwamoto Akitoshi , Tsutsumi Nobuhiro , Arimura Shin-ichi 
Published: January 2023

AbstractHow mitochondria regulate the expression of their genes is poorly understood, partly because methods have not been developed for stably transforming mitochondrial genomes. In recent years, the disruption of mitochondrial genes has been achieved in several plant species using mitochondria-localized TALEN (mitoTALEN). In this study, we attempted to disrupt the NADH dehydrogenase subunit7 (NAD7) gene, a subunit of respiratory chain complex I, in Arabidopsis (Arabidopsis thaliana) using the mitoTALEN method. In some of the transformants, disruption of NAD7 was accompanied by severe growth inhibition and lethality, suggesting that NAD7 has an essential function in Arabidopsis. In addition, the mitochondrial genome copy number and overall expression of genes encoding mitochondrial proteins were generally increased by nad7 knockout. Similar increases were also observed in mutants with decreased NAD7 transcripts and with dysfunctions of other mitochondrial respiratory complexes. In these mutants, the expression of nuclear genes involved in mitochondrial translation or protein transport was induced in sync with mitochondrial genes. Mitochondrial genome copy number was also partly regulated by the nuclear stress-responsive factors NAC domain containing protein 17 and Radical cell death 1. These findings suggest the existence of overall gene-expression control through mitochondrial genome copy number in Arabidopsis and that disruption of single mitochondrial genes can have additional broad consequences in both the nuclear and mitochondrial genomes.
Anti-SARS-CoV-2 vaccination in adolescent and adult patients with juvenile-onset systemic lupus erythematosus: tolerability and impact on disease activity
Authors: Chighizola Cecilia Beatrice , Suardi Ilaria , Carrea Giulia , Argolini Lorenza , Gattinara Maurizio , Marino Achille , Pontikaki Irene , Caporali Roberto , Gerosa Maria 
Published: January 2023

Abstract

Objectives
JSLE has a severe presentation and a remitting course. Patients with JSLE carry an increased vulnerability to infections, which also act as triggers of disease flare. Thus, vaccination against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is an important tool in JSLE. The objective of this study is to evaluate the tolerability and the safety of anti-SARS-CoV-2 vaccination, including the booster, in a monocentric cohort of JSLE patients.

Methods
Clinical records of JSLE patients who received at least one dose of any anti-SARS-CoV-2 vaccine were retrospectively reviewed. Data about disease activity, treatment, anti-SARS-CoV-2 vaccination and COVID-19 infection were collected.

Results
Sixty-five JSLE patients received at least one dose of anti-SARS-CoV-2 vaccination, while 46 patients completed the schedule with the booster. The rate of mild–moderate adverse events was 66%, mainly comprising fever, fatigue, arthromyalgias and pain at injection site. The rate of adverse events after the booster was similar to that registered after the first two doses. No significant changes after SARS-CoV-2 vaccination in BILAG and SLEDAI were observed. Disease flare rate (mainly LN) after immunization was 10.8%. Flares occurred predominantly in patients with moderate disease activity before immunization; accordingly, SLEDAI ≥4 identified patients at risk of flare while Lupus Low Disease Activity State (LLDAS) plays a protective role against post-vaccination flare.

Conclusions
This study confirms that anti-SARS-CoV-2 vaccination in JSLE is well tolerated; a strict clinical monitoring and a thoughtful choice of vaccination timing should be devoted to patients not in LLDAS due to the risk of post-vaccine flare.
“Intersections of Social Systems, Race, and Health in America: A Historical Perspective”: A Novel Elective for Medical Students to Increase Antiracism Advocacy
Authors: Lord Victoria , Larsen Alexandra , Rashid Rudmila , Palmer Walter , Mamtani Mira , Aysola Jaya 
Published: January 2023

Problem
There are growing calls for medical education to effectively teach about and explicitly name racism as a driver of inequities in social determinants of health and inspire student action to address health inequities.

Approach
Using a novel application of the generative co-design approach, in 2020 Perelman School of Medicine students and faculty implemented a student-led, interdisciplinary elective course for preclerkship medical students. The co-design process allowed for an iterative and conversation-based experience emphasizing how social systems and racist policies shape health care access and outcomes. Active student participation was integral to developing discussion questions to elicit how students’ positions in power structures can uphold inequities. Community members and nonprofit leaders taught about the current realities of discrimination and how students could best advocate for patients in the future. Enrolled students (n = 17) and a control group of nonenrolled classmates (n = 37) completed the Anti-Racism Behavioral Inventory (ARBI) pre- and post-course to compare changes in antiracist behaviors.

Outcomes
Course participants demonstrated a significant increase in ARBI scores (mean = 4.29 (7.30); t(16) = 2.42; P = .01), while students from the control group did not (mean = 1.43 (6.98); t(36) = 1.25; P = .11). The “individual advocacy” subdomain of the ARBI largely drove the change in ARBI scores, suggestive of increased antiracism behavior in the enrolled cohort. Students provided feedback offering praise for course elements and suggestions for improvement.

Next Steps
Early findings suggest that this course, created with a co-design approach, generated new experiences for medical students, increased their understanding of systemic racism, and increased individual antiracist advocacy. Future work, with larger class sizes and longitudinal measurement of behavior change, should further investigate the transformative effects of applying co-design strategies to medical education courses about race and health.
A Comparison of Outcomes between Finger and Pulp Replantation/Revascularization in a Single Center
Authors: Duah-Asante Kwaku , Kadhum Murtaza , Khajuria Ankur , Nduka Charles , Koshima Isao , Kannan Ruben Y. 
Published: January 2023

Background:
Supermicrosurgery has allowed the replantation/revascularization of the pulp, but how does this currently compare with more proximal digit replantation/revascularization?

Methods:
In a retrospective case study over a 5-year period at our institute, a total of 21 patients (n = 21) had either finger or pulp replantation-revascularization posttrauma. All pulp replants had a single-vessel anastomosis viz., “artery-to-artery” or “artery-to-vein” only, with venous outflow dependent on the skin-shave technique, while more proximal replants had both arterial and venous anastomoses. Age, sex, ischemic time, handedness, smoker status, and injury-replant interval were compared between the two groups, with all procedures performed by a single surgeon. The outcome parameters studied were length of hospital stay, timeline for wound healing, viability, and functional outcomes.

Results:
Our patients consisted of 18 men and three women, of which 14.3% were smokers and 85.7% were right-handed. There were 11 finger replantation/revascularizations (n = 11) versus 10 pulp replantation/revascularizations (n = 10). The average age of digit replantation/revascularization patients was 44.8 years compared with 26.4 years in pulp replantation/revascularization patients (Student t test, P = 0.04). Mean ischemia time in digital replants was 67 minutes versus 32.3 minutes in pulp replantation/revascularization (Student t test, P = 0.056). Digital replantation/revascularization was viable in 72% of cases versus a 90% viability in the pulp subcohort.

Conclusions:
In our patient cohort, pulp replantation/revascularizations produced better postoperative viability. Where supermicrosurgery expertise is available, pulp replantation/revascularization should be considered a worthwhile option when compared with digital replantation/revascularization.
A Novel Otoplasty Technique Using Dermabrader on Prominent Ear Deformity Patients: A Retrospective Study and a Description of Technique
Authors: Gelidan Adnan G. , Mortada Hatan , Alarki Subhi M.K. Zino , Arab Khalid , Kattan Abdullah E. 
Published: January 2023

Background:
Approximately 5% of the population has protruding ears. An antihelix deficiency or absence is a common cause of ear protrusion. Although there are over 200 techniques to manage prominent ears, there is no evidence to support using dermabraders in this situation. To the author’s knowledge, this is one of the first articles to assess the clinical outcome of dermabrader use on patients with prominent ear deformities.

Methods:
An analysis of retrospective medical records was conducted by the senior author on patients with prominent ears treated with our novel dermabrasion technique between 2018 and 2021. The demographics, clinical assessment, and outcomes of the patients were assessed. Furthermore, the article provides a detailed description of the technique.

Results:
A total of 18 ears were operated on. Eight of the included patients had bilateral ear deformities, and two had unilateral deformities. The mean distance from the ear to the head at the superior helix was 29 mm (range, 25–35 mm). In our series, no complications were observed. During the most recent clinical evaluation, all patients had achieved acceptable ear positioning and excellent aesthetic results.

Conclusions:
Dermabrasion is a useful technique for otoplasty because no sutures are required and symmetry can be achieved in bilateral ears. Furthermore, this technology is safe, simple, reproducible, reliable, and versatile. We recommend that future studies be conducted in a prospective manner with larger sample sizes and longer follow-up periods to ensure the validity of the findings.
Subjective and objective burden on providers from a multicenter app-based study of patients with cirrhosis and caregivers
Authors: Shaw Jawaid , Acharya Chathur , Albhaisi Somaya , Fagan Andrew , McGeorge Sara , White Melanie B. , Lachar Jatinder , Olson Jessica , Olofson Amy , Bergstrom Lori , Kamath Patrick S. , Bajaj Jasmohan S. 
Published: January 2023

Background:
App-based technologies could enhance patient and caregiver communication and provide alerts that potentially reducing readmissions. However, the burden of App alerts needs to be optimized to reduce provider burnout.

Aim:
The purpose of this study was to determine subjective and objective burden of using the Patient Buddy App, a health information technology (HIT) on providers in a randomized multicenter trial, who completed a semi-quantitative Likert scale survey regarding training procedures, data and privacy concerns, follow-up details, and technical support. This randomized multicenter trial recruits cirrhosis inpatients and their caregivers, and randomizes them into standard-of-care, HIT (communication only via App) and HIT+visits (App+phone calls/visits) for 30 days after discharge. The alerts are monitored by providers through a central iPad. The reason(s) and number of alerts were recorded as the objective burden. A total of 1442 messages were sent as alerts from the 103 dyads (patient + caregiver) (n=206) randomized to HIT arms. The most common messages related to Hepatic Encephalopathy (HE) (high or low bowel movement=50% or orientation tests=37%). Twelve providers completed the surveys reflecting the following themes—92% and 100%, felt adequately trained and confident about educating the patients and caregivers before roll out of App and had no concerns related to data and privacy; 70%, felt that appropriate time was spent on pursuing reason for data not being logged; 60% each, had issues with availability of adequate technical support and connectivity.

Conclusion:
The Patient Buddy App randomized multicenter trial till date shows an overall favorable rating regarding training procedures/education, privacy concerns, and ease of message follow-up, from providers. However, it is important to gauge and address subjective and objective burdens of monitoring human resources in current and future HIT studies to avoid burnout and to ensure successful study completion.
QUANTITATIVE ASSESSMENT OF AUTOMATED OPTICAL COHERENCE TOMOGRAPHY IMAGE ANALYSIS USING A HOME-BASED DEVICE FOR SELF-MONITORING NEOVASCULAR AGE-RELATED MACULAR DEGENERATION
Authors: Oakley Jonathan D. , Verdooner Steven , Russakoff Daniel B. , Brucker Alexander J. , Seaman John , Sahni Jayashree , BIANCHI Carlo D. , Cozzi Mariano , Rogers John , Staurenghi Giovanni 
Published: January 2023

Purpose:
To evaluate a prototype home optical coherence tomography device and automated analysis software for detection and quantification of retinal fluid relative to manual human grading in a cohort of patients with neovascular age-related macular degeneration.

Methods:
Patients undergoing anti-vascular endothelial growth factor therapy were enrolled in this prospective observational study. In 136 optical coherence tomography scans from 70 patients using the prototype home optical coherence tomography device, fluid segmentation was performed using automated analysis software and compared with manual gradings across all retinal fluid types using receiver-operating characteristic curves. The Dice similarity coefficient was used to assess the accuracy of segmentations, and correlation of fluid areas quantified end point agreement.

Results:
Fluid detection per B-scan had area under the receiver-operating characteristic curves of 0.95, 0.97, and 0.98 for intraretinal fluid, subretinal fluid, and subretinal pigment epithelium fluid, respectively. On a per volume basis, the values for intraretinal fluid, subretinal fluid, and subretinal pigment epithelium fluid were 0.997, 0.998, and 0.998, respectively. The average Dice similarity coefficient values across all B-scans were 0.64, 0.73, and 0.74, and the coefficients of determination were 0.81, 0.93, and 0.97 for intraretinal fluid, subretinal fluid, and subretinal pigment epithelium fluid, respectively.

Conclusion:
Home optical coherence tomography device images assessed using the automated analysis software showed excellent agreement to manual human grading.
Non–Germ Cell Intrascrotal Tumors in Adults: A Retrospective Cohort of Localized and Metastatic Disease From a Tertiary Cancer Center
Authors: Cunha Mateus T. , Cardoso Camila A. , Silva Jamile A. , Freitas Guilherme F. , Muniz David Q. , Guglielmetti Giuliano B. , Cordeiro Mauricio D. , Cardili Leonardo , Nahas William C. , Mota Jose Mauricio 
Published: January 2023

Purpose:
Given their rarity, little is known about outcomes and optimal treatment strategies for non–germ cell intrascrotal tumors (NGCITs). Here, we report a retrospective cohort of NGCITs and describe clinicopathological features and treatment patterns and outcomes.

Materials and Methods:
Patients 18 years or older with a histological diagnosis of NGCIT were eligible. Electronic health records were reviewed to assess clinical features, disease characteristics, and outcomes. Radiological responses were determined by RECIST 1.1. Time-to-event outcomes were estimated using the Kaplan-Meier method and compared through the log-rank test and Cox univariate regression.

Results:
From January 2009 to April 2022, 896 patients were reviewed for eligibility, with 36 patients with NGCIT identified. At diagnosis, 29 were nonmetastatic (Leydig tumors, n = 9; sarcomas, n = 8; Sertoli tumors, n = 3; others, n = 9) and 7 were metastatic (sarcomas, n = 5; others, n = 2). Five patients (sarcomas, n = 2; Leydig tumors, n = 2; mesothelioma, n = 1) developed metastatic disease after a median follow-up of 18.6 months. Systemic treatment (n = 10) was given according to primary histology, with partial responses observed in 2 patients with metastatic rhabdomyosarcoma treated with VAC regimen (vincristin, adriamycin, and cyclophosphamide). Overall survival varied according to disease classification (benign vs malignant, hazard ratio [HR] 4.5, confidence interval [CI] 95% 1.0-21.2) or presentation (all patients: metastatic vs localized at diagnosis, HR 7.1, CI 95% 2.0-24.5; patients with malignant disease: metastatic vs localized at diagnosis, HR 5.0, CI 95% 1.1-24.4).

Conclusions:
NGCITs comprise a heterogeneous group of diseases, with a relatively better prognosis at early stages. Most metastatic cases occurred within patients with paratesticular sarcomas and mesotheliomas.
Prevalence and Risk Factors of Functional Gastrointestinal Disorders: A Cross-Sectional Study in Italian Infants and Young Children
Authors: Scarpato Elena , Salvatore Silvia , Romano Claudio , Bruzzese Dario , Ferrara Dante , Inferrera Ramona , Zeevenhooven Judith , Steutel Nina F. , Benninga Marc A. , Staiano Annamaria 
Published: January 2023

Objectives:
Reports of prevalence of functional gastrointestinal disorders (FGIDs) in infants/toddlers are widely variable. Reasons for this variability are not yet fully understood. The objective of this study is to estimate the prevalence of FGIDs according to Rome IV criteria and to evaluate associated factors, in Italian infants and toddlers.

Methods:
Subjects aged 0–48 months were enrolled by general pediatricians from 3 Italian regions. Parents or legal guardians were administered questionnaires including information about the child, the family, and GI symptoms according to Rome IV criteria.

Results:
Five hundred eight infants aged 0–12 months [mean age 4.4 ± 3.4 months; females (F) 40.9%], and 268 children aged 13–48 months (mean age 30.8 ± 10.7 months; F 44.4%) were included. In infants, prevalence of FGIDs was 21.1%, and the most prevalent FGID was infant colic (9.3%). In toddlers, prevalence of FGIDs was 19.6%, with functional constipation being the most frequent disorder (16.1%). In infants, multivariable analysis found that being older, being the only child, and living in a rural environment were associated with a lower rate of FGIDs. Prevalence was, in contrast, higher in infants fed with formula.

Conclusions:
One out of 5 Italian infants and young children is affected by at least 1 FGID. The most frequent FGID in infants is infant colic, while in toddlers this is functional constipation. In infants, prevalence of FGIDs is lower if the subject has no siblings, and in children living in a rural environment, while formula feeding represents a risk factor for FGIDs occurrence.
Fish Oil And/Or Probiotics Intervention in Overweight/Obese Pregnant Women and Overweight Risk in 24-Month-Old Children
Authors: Saros Lotta , Vahlberg Tero , Koivuniemi Ella , Houttu Noora , Niinikoski Harri , Tertti Kristiina , Laitinen Kirsi 
Published: January 2023

Objectives:
To evaluate whether a fish oil and/or probiotics intervention in pregnant women with overweight or obesity would influence the tendency of their 24-month-old children to become overweight and alter their body fat percentage.

Methods:
Women (n = 439) were double-blindly randomized into 4 intervention groups: fish oil+placebo, probiotics+placebo, probiotics+fish oil, and placebo+placebo (fish oil: 1.9 g docosahexaenoic acid and 0.22 g eicosapentaenoic acid, probiotics: Lacticaseibacillus rhamnosus HN001 and Bifidobacterium animalis ssp. lactis 420, 1010 colony-forming units each). The intervention lasted from early pregnancy until 6 months postpartum. Children’s (n = 330) growth data (height, weight, head circumference), a secondary outcome of the trial, were evaluated at birth, 3, 6, 12, and 24 months of age and compared to Finnish growth charts. Body fat percentage was measured with air displacement plethysmography (24 months). Logistic regression and general linear models were used to analyze the data.

Results:
Probiotics+placebo [weight-for-height% adj. Odds ratio (OR) = 0.36, 95% confidence interval (CI) = 0.14–0.95] and probiotics+fish oil [weight-for-age standard deviation score (SD-score) adj. OR = 0.22, 95% CI = 0.07–0.71] associated with lower overweight odds in 24-month-old children compared to placebo+placebo. Results remained essentially the same, when probiotics’ main effect (combined probiotics+placebo and probiotics+fish oil) was estimated; that is, lower overweight odds (weight-for-height% adj. OR = 0.48, 95% CI = 0.25–0.95 and weight-for-age SD-score adj. OR = 0.42, 95% CI = 0.20–0.88) compared to non-probiotics. No fish oil main effect (combined fish oil+placebo and probiotics+fish oil) was seen. The intervention did not influence body fat percentage.

Conclusions:
The administration of probiotics solely and in combination with fish oil during pregnancy to women with overweight or obesity lowered the overweight odds of their 24-month-old children.
Ethnic Disparities in Risk Factors for Myopia among Han and Minority Schoolchildren in Shawan, Xinjiang, China
Authors: Shi Yumeng , Ma Dongmei , Li Xuemei , He Xiaolan , Cui Hanwen , Li Guoqing , Wang Jingjing , Luo Jianfeng , Yang Jin 
Published: January 2023

SIGNIFICANCE
The ethnic differences in myopia rates, ocular dimensions, and risk factors between Han and non-Han schoolchildren observed in this study may help fill the knowledge gap about ethnic minorities and are important for China and other countries to address vision-related health inequalities among different ethnic groups.

PURPOSE
This study aimed to investigate the risk factors of juvenile myopia and elucidate the disparities of risk factors among Han and non-Han school students in Xinjiang, China.

METHODS
A population-based cross-sectional study of 876 schoolchildren from grades 1 to 9 was conducted in the Anjihai Middle School in Shawan, Xinjiang Uygur Autonomous Region, China. Visual acuity and ocular biometry were assessed, and personal information, including behavior, birth status, and familial factors, was collected using self-made standardized questionnaires.

RESULTS
The myopia rate among students of Han ethnicity (50.5%) was the highest, followed by Hui (41.3%) and Uygur et al. (32.0%, P < .001). Similar patterns were observed for mean axial length. The mean axial lengths are 23.7, 23.4, and 23.3 mm, respectively (P = .01). Overall, performing high-quality eye exercises, longer sleep duration, being born in summer, parental smoking, and consuming more food containing anthocyanins were all associated with a lower incidence of myopia. Meanwhile, Han ethnicity, intensive near task, bad eye habits, and myopic mothers were associated with higher odds of myopia. After adjusting for environmental influences pertaining to myopia, the variation in myopia prevalence between Han and Uygur et al. remained significant, whereas it changed to not significant between Han and Hui ethnicities.

CONCLUSIONS
Significant disparities were found in the prevalence of myopia among various ethnic groups in Shawan, Xinjiang. Life habits, birth status, and familial factors may contribute to such variance and play different roles in the occurrence of juvenile myopia among various ethnicities.