bluuebunny/crossref_metadata_2025_split huggingface dataset:
First case of Autosomal recessive spastic ataxia of Charlevoix-Saguenay in the Middle east
Authors: Safan Abeer Sabry , Zammar Khalid , Atta Mohamed A. , Obaid Koutaibah , Deleu Dirk 
Published: September 2024

Abstract

Introduction:
Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder of distinctive triad of ataxia, spasticity and axonal-demyelinating sensorimotor neuropathy. Owing to its eponymous name, ARSACS was first reported in the Charlevoix–Saguenay region of Quebec, but epidemiologically speaking it is far more common globally. It is the genetic implication of biallelic mutations in the Spastic Ataxia of Charlevoix-Saguenay (SACS) gene that usually manifests from childhood.
Clinical presentation:
We report a 20-year-old Omani male of consanguineous parents, with progressive frequent falls and ataxia with delayed motor milestones, found to have homozygous variant mutation of SACS 13q12.12, suggestive of autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS). Magnetic resonance imaging (MRI) of the head and cervical spine showed bilateral hypointense stripes in pons (tigroid appearance), atrophy of the superior cerebellar vermis, and midbody atrophy of corpus callosum and hyperintense thalamic rim signs. Electromyography (EMG) and nerve conduction studies (NCS) show sensory-motor polyneuropathy. Blood workups for vitamin B12, tocopherols (vitamin E), and peripheral smear were unremarkable. Management encompassed a multidisciplinary approach with tizanidine, Botulinum toxin B injection, and extensive physical and balance rehabilitation.
Conclusions:
ARSACS is reported across the globe representing the second comments form of hereditary ataxia. As per the literature, there have been no reported cases in the Middle East, making this the first reported case of Omani origin in the Middle East.
Clinical characteristics and surgical outcomes of full-thickness macular hole secondary to retinal vein occlusion
Authors: Wu Xijin , Yang Xiaohan , Qi Biying , Yu Yanping , Wang Xinbo , Jia Qinlang , Feng Xiao , Liu Wu 
Published: September 2024

Abstract

Purpose: To describe the clinical characteristics and visual and anatomical surgical prognosis for full-thickness macular hole (FTMH) secondary to retinal vein occlusion (RVO).
Method: This retrospective study reviewed 13 eyes from 13 consecutive patients with FTMH after RVO who underwent pars plana vitrectomy (PPV) combined internal limiting membrane (ILM) peeling or ILM flap insertion. Clinical demographics and spectral-domain optical coherence tomography (SD-OCT) features were evaluated. Multiple linear regression was used to analyze the associated factors for the final best-corrected visual acuity (BCVA).
Results: Of the 13 eyes, 11 had a previous branch RVO (BRVO) and 2 had a central RVO (CRVO). The mean minimum linear diameter (MLD) of these secondary macular holes was 469.31±197.96μm. Eight subjects (61.5%) showed a FTMH secondary to a long-standing RVO (RVO episode longer than 6 months), and the rest 5 subjects (38.5%) developed a FTMH after a recent onset RVO within 6 months. The two groups shared similar baseline BCVA (P=0.414), MLD (P=0.218) and BD (P=0.453). The mean follow-up period was 10.0 months. All cases showed anatomical closure at the last follow-up, with BCVA significantly improved from 0.90±0.28 logMAR at baseline to 0.45±0.34 logMAR after surgery (P＜0.001). The final BCVA of the eyes after recent onset RVO was better than the ones after long-standing RVO (P=0.012). Regression analysis showed that the final BCVA was significantly associated with the baseline BCVA, RVO duration, and the ellipsoid zone (EZ) integrity (P＜0.001).
Conclusion: FTMH secondary to RVO could achieved favorable anatomical and functional success with PPV. The cases secondary to a recent RVO might have better visual prognosis. The initial BCVA and postoperative EZ recovery were associated with the final BCVA.
Radiotherapy Dosing in Intracranial Ependymoma Using the National Cancer Database
Authors: Rose Melanie , Moen Erika , Ager Bryan , Bajaj Benjamin , Poppe Matthew , Russo Gregory , Yock Torunn 
Published: September 2024

Abstract

Purpose
To determine the dose-dependent effect of adjuvant radiotherapy on survival for pediatric intracranial ependymomas and explore patient and disease characteristics that experience survival benefit from higher doses.
Methods
Data was accessed from the National Cancer Database. Inclusion criteria was comprised of a diagnosis of non-metastatic intracranial ependymoma, World Health Organization (WHO) grade 2 or 3, surgical resection, adjuvant radiotherapy between 4500–6300 cGy, and non-missing survivorship data. Crude and adjusted Cox proportional hazard ratios (HRs) were calculated to estimate the associations of patient, tumor, and treatment characteristics with overall survival (OS). Kaplan-Meier (KM) estimations were used to visualize survival curves for dosing for the general cohort and by subgroups (age, resection extent, and grade).
Results
Of the 1154 patients who met inclusion criteria, 405 received ≤ 5400 cGy and 749 received > 5400 cGy. We found no difference in OS crude (0.95, 95% CI 0.72–1.06) or adjusted (0.88, 95% CI 0.46–1.69) HR for those receiving ≤ 5400 cGy. KM curves showed no difference in OS for dosing for the general cohort based on age, surgical extent, and grade. However, there was better OS in those with WHO grade 2 tumors compared to grade 3 regardless of dose received.
Conclusions
There was no difference in OS between patients who received ≤ 5400 cGy compared to > 5400 cGy. We found improved OS in those with grade 2 tumors compared to grade 3, however there was no difference in OS based on dose received by tumor grade, age, or resection extent. Limitations in data available prevent exploring other outcomes or toxicity.
Healthcare workers’ perspective about barriers and facilitators to pediatric HIV status disclosure in eastern Uganda using Capability Opportunity and Motivation of Behavior change model
Authors: Kirabira Joseph , Rukundo Godfrey Zari , Zanoni Brian C. , Obua Celestino , Wakida Edith , Atala Christine Etoko , Akello Naume Etoko , Huang Keng-Yen , Ashaba Scholastic 
Published: September 2024

Abstract

Background HIV status disclosure by caregivers to children and adolescents living with HIV (CALH) remains a public health concern in countries with a high burden of HIV despite guidelines for healthcare workers to facilitate the process. Objective This study aimed at exploring barriers and facilitators to HIV status disclosure experienced by healthcare workers (HCWs) at two large regional referral hospitals in eastern Uganda with special focus on utilization of guidelines by World Health Organization and Uganda Ministry of Health. Methods Qualitative in-depth interviews were conducted among all healthcare workers involved in management of CALH at three hospital-based pediatric HIV clinics. Trained research assistants collected data using a pilot tested semi-structured interview guide designed basing on the capability, opportunity and motivation of behavior change model. The audio recorded interviews were transcribed verbatim and analyzed thematically based on the social ecological model using inductive content approach with Atlas ti software. Results A total of 16 in-depth interviews were conducted among healthcare workers including both male and female in equal numbers. The barriers to disclosure were categorized into five levels; 1) individual level: internalized/anticipated stigma of HIV, 2) interpersonal level: anticipated stigma of HIV among caregivers, 3) institutional level: lack of preparatory procedures and training for HIV status disclosure, 4) community level: enacted HIV stigma and unstable home environment for CALH and 5) policy level: limited health funding and access to disclosure guidelines by HCWs. On the other hand, facilitators were mainly at three level; 1) individual level: orphanhood status of the child, emotional reward to HCWs, and HCWs’ awareness of responsibilities, 2) interpersonal level: peer support for CALH, their caregivers and HCWs and teamwork among HCWs and 3) institutional level: disclosure related checklist, monitoring and supervision of HCWs. Conclusion The findings highlighted several potentially modifiable factors which when addressed, or reinforced HIV status disclosure among CALH and utilization of existing guidelines can be improved. There is need to conduct more research regarding the implementation of the existing pediatric HIV status disclosure guidelines in Uganda.
Prevalence and associated factors of epiretinal membrane using spectralis OCT in a Chinese population: The Fujian Eye Study
Authors: Li Yang , Li Xiaoxin , Hu Yonghua , Wang Bin , Hu Qinrui 
Published: September 2024

Abstract

Purpose:
We aimed to determine the prevalence and risk factors of epiretinal membrane in a population-based study of residents aged 50 years and older in Fujian Province, Southeast China.
Methods:
The Fujian Eye Study is a population-based cross-sectional eye study in Fujian province, Southeast China. Residents aged 50 years and older were enrolled and did the questionnaire (educational background, income, blood type, disease history, medication history, smoking, drinking and tea consumption, et al), physical and ophthalmological examinations with height, weight, systolic blood pressure (SBP), diastolic blood pressure (DBP), heart rate (HR), refraction, intraocular pressure (IOP), slit lamp, nonmydriatic fundus photograph and spectralis optical coherence tomography (OCT) imaging. Nonmydriatic fundus photograph and Spectralis OCT were used to assess ERM according to a standardised protocol.
Results:
A total of 8173 residents were included in this study. Among them, 8.42% (95%CI: 0.0782 to 0.0902) had ERM in at least one eye. Multiple logistic regression showed the presence of ERM was only associated with urbanization and geographic location, but not with age, sex, refractive error, IOP, SBP, DBP, HR, BMI, hypertension, diabetic mellitus (DM), hyperlipidemia, education, income, smoking, alcohol and tea consumption.
Conclusions:
ERM is common among Chinese with 8.42% in at least one eye. Urbanization and geographic location are the only associated factors for ERM in Fujian Eye Study.
Prevalence and correlates of severe anxiety among front-line nurses during and after the COVID-19 pandemic: A large-scale multi-center study
Authors: Yang Yuan , Yang Shutong , Sun Hongyu , Hao Qingling , Liu Jiao , Li Cui , Fu Yunsheng , Yao Cong , Luo Guoshuai 
Published: September 2024

Abstract

Background
Nurses have been at the forefront of the battle against the COVID-19 pandemic, facing extended work hours and heightened stress, predisposing them to psychological distress. This study aims to investigate the prevalence and correlates of severe anxiety among frontline nurses in China during and after the COVID-19 pandemic.
Methods
A large-scale multi-center survey was conducted from November to December 2022 and from April to July 2023. Data were collected using online surveys, covering demographic characteristics, job-related factors, anxiety, depression, and sleep disorders. Statistical analyses, including chi-square tests, t-tests, and logistic regression, were performed to assess the incidence and factors influencing severe anxiety.
Results
The study included 816 nurses during the pandemic and 763 nurses after the pandemic. The prevalence of severe anxiety during the pandemic (52.3%) was significantly higher than after the pandemic (8.0%). Factors such as nursing title, night shift frequency, educational level, exercise frequency, COVID-19 infection status, economic pressure, and work pressure showed significant differences between the two periods. Binary logistic regression revealed associations between severe anxiety and factors such as night shift frequency, COVID-19 infection status, nursing title, depression, and sleep disorders. Receiver Operating Characteristic analysis demonstrated good predictive value for severe anxiety.
Conclusion
The study underscores the importance of understanding and addressing severe anxiety among frontline nurses during and after the COVID-19 pandemic. Future research should delve into long-term psychological effects and implement effective intervention measures to support nurses' mental health.
AFC and AMH demonstrate significant predictive value for pregnancy outcomes in patients at risk of high ovarian reserve undergoing GnRH-antagonist protocols
Authors: Lan Yunzhu , Liu Shuang , zhang Jun , Wang Fang , Chen Shaowei , Xu Jian 
Published: September 2024

Abstract

Objective GnRH-antagonist protocols have garnered significant attention due to their potential to yield more favorable pregnancy outcomes. The association between clinical parameters of GnRH-antagonist protocols and pregnancy outcomes in fresh embryo transfer cycles is a major area of concern. Therefore, our study aimed to investigate the relationship between clinical parameters and pregnancy outcomes in GnRH-antagonist protocols. Methods Out of 2800 couples, we conducted a retrospective evaluation of 442 women, aged 22–40 years, who underwent embryo transfer in-vitro fertilization (IVF) with GnRH-antagonist protocols. Our focus was on the pregnancy outcomes in the fresh embryo transfer cycle of cleavage-stage. The participants were divided into pregnancy (n = 161) and non-pregnancy groups (n = 281), and their clinical parameters were compared to investigate which factors had an effect on pregnancy outcome using a binary logistic regression model. Results Using the Mann-Whitney test, it was determined that several factors were significantly different between the pregnant and non-pregnant groups. Specifically, anti-mullerian hormone (AMH) (p = 0.031 < 0.05), antral follicle count (AFC) (p = 0.000 < 0.05), number of oocytes retrieved (p = 0.002 < 0.05), Metaphase II (MIl) (p = 0.011 < 0.05), Two pronuclear (2PN) (p = 0.014 < 0.05), and endometrial thickness at transplantation (p = 0.045 < 0.05 ) were all found to be significantly greater in the pregnant group compared to the non-pregnant group. Furthermore, AFC (OR = 1.046, 95% confidence interval (CI):1.019–1.073, p = 0.000 < 0.05) and AMH (OR = 1.078 ,95% CI:1.013–1.013, p = 0.031 < 0.05 ) were positively associated with pregnancy outcome. It was also observed that AFC (AUC = 0.600, 95%CI:0.545–0.656,p = 0.002 < 0.05) and AMH (AUC = 0.562, 95%CI:0.507–0.616,p = 0.002 < 0.05) had weak predictive power for pregnancy outcome in GnRH-antagonist protocols, however, their predictive power was stronger when AFC was greater than 15 (AUC = 0.753, 95%C1:0.587–0.799,p = 0.002 < 0.05) and AMH levels were greater than 4.0 ng/mL in the group (AUC = 0.602, 95%C1:0.502–0.702, p = 0.033 < 0.05). Additionally, AFC was found to be more relevant and predictive of pregnancy outcome than AMH in GnRH-antagonist protocols. Conclusions: AFC and AMH levels have limited predictive value in predicting pregnancy outcomes with GnRH-antagonist protocols, but they demonstrate significant clinical utility when AFC exceeds 15 and AMH is above 4.0 ng/mL. This discovery holds significant predictive value for clinicians utilizing AFC and AMH to assess pregnancy outcomes in patients with high ovarian reserve undergoing GnRH-antagonistic cycles.
Clinical features, plasma neurotransmitter levels and plasma neurohormone levels in sleep disorders among patients with early-stage Parkinson’s disease
Authors: Ma Cui-Hong , Ren Ning , Xu Jing , Chen Lei 
Published: September 2024

Abstract

Background: Sleep disorders occur frequently in patients with Parkinson’s disease (PD). Neurotransmitters and neurosteroids are known to be involved in various neurophysiological processes, including sleep development.
Objective:We aimed to assess the association between peripheral neurotransmitter and neurosteroid levels and various sleep disorders in early-stage PD.
Methods: 59 patients with early-stage PD and 30 healthy controls were enrolled. Demographic and clinical data were collected and sleep conditions were comprehensively assessed with clinical questionnaires and polysomnography. Blood samples were obtained at 1:00 AM and 9:00 AM in all participants. The concentrations of plasma neurotransmitters and neurohormones were detected using high-performance liquid chromatography tandem mass spectrometry.
Results: Sleep disorders were common non-motor symptoms (81.4%) and coexisted in approximately half of the patients. Dysautonomia was significantly associated with the presence of multiple sleep disorders. RBD was associated with dysautonomia and was negatively correlated with plasma melatonin concentration at 1:00 AM (r = −0.40, p = 0.002) in early-stage PD patients. The RLS group had higher PSQI score, and RLS was negatively associated with the levels of 5-hydroxytryptamine (r = −0.40, p = 0.002) at 1:00 AM and glutamine (r = −0.39, p = 0.002) at 9:00 AM. SDB was associated with cognitive impairment, higher body mass index, and lower plasma acetylcholine concentrations at 1:00 AM.
Conclusion: Combined sleep disturbances were frequent in early-stage PD. Dysautonomia was closely related to various sleep disorders, including RBD, EDS, and insomnia. Changes in peripheral neurotransmitter and neurohormone levels may be involved in the development of sleep disorders.
Response of nutrient content, photosynthetic characteristics, and root characteristics of Solanum betaceum seedlings to different shading conditions
Authors: Zheng Shaojie , Guo Huanxian , Dong Qiong , Cha Xiaofei , Sun Lijuan 
Published: September 2024

Abstract

Light is the main source of energy for plants, and Solanum betaceum is a typical economic crop that can grow and develop without too much light intensity. To investigate the growth status of Solanum betaceum seedlings under low light conditions and provide a theoretical basis for cultivating efficient Solanum betaceum seedlings. This study used Solanum betaceum seedlings as materials and set up four shading levels: full light (0% shading), mild shading (25% shading), moderate shading (50% shading), and severe shading (75% shading). We measured the contents of carbon(C), nitrogen(N), phosphorus(P), soluble sugars, starch, and Non-structural carbohydrates(NSC) in plants, as well as the photosynthetic physiological characteristics (fluorescence parameters, photosynthesis parameters, and photosynthetic pigment content) and root characteristics (root length, root surface area, root volume, and average root diameter). Our research results indicate that with the increase of shading intensity, the C, N, P content, and NSC content in various organs of Solanum betaceum seedlings show a significant change pattern of first increasing and then decreasing (P < 0.05). The C, N, and P content of plants is highest under 25% shading, while the NSC content of roots, stems, and leaves are highest under 50% shading treatment. Photosynthetic pigment content, chlorophyll fluorescence parameters, net photosynthetic rate (Pn), stomatal conductance (Gs), transpiration rate (Tr), and intercellular carbon dioxide concentration (Ci) all reached their maximum under 50% shading treatment; whereas root morphology is best under 25% shading treatment. In summary, under 25%~50% shading treatment, the photosynthetic system structure of Solanum betaceum seedlings is more complete, energy metabolism is faster, light energy conversion efficiency is higher, light energy absorption and utilization are better, nutrient synthesis is more suitable for the growth and development of Solanum betaceum seedlings, while excessive shading inhibits seedling growth and development.
Promoting transgender healthcare competency: Simulation scenario for medical students.
Authors: Sobral Letícia Nacle Estefan , Lima João Pedro Venancio , Silva Amanda Madureira , Monteiro Liandra Fernandes , Britto Débora Fernandes , Peixoto Raquel Autran Coelho 
Published: September 2024

Abstract

Background: Medical professionals seem unprepared to provide care and understand the health needs of transgender and gender diverse (TGD) people. Therefore, this research aimed to explore the medical students' attitudes and performance on a transgender healthcare simulation scenario.
Methods: We designed and evaluated a simulation scenario to train Obstetrics and Gynecology (OB/GYN) clerkship students in caring for TGD patients. The simulation and cross-sectional data collection took place in a university hospital located in the northeast of Brazil. From January to June 2023, the OB/GYN clerkship medical students were invited to run a simulated scenario. The undergraduates answered a simplified "Scale of Satisfaction with Simulated Clinical Experiences". This research was approved by the institution's Research Ethics Committee and received funding from the Brazilian Association of Medical Education.
Results: Almost a third of the students reported that they had not the opportunity to differentiate between gender identity and biological sex during their undergraduate program. 74% believe that an individual's sexual orientation has an influence on the care they receive. The scenario simulated a consultation for a trans man with secondary amenorrhea. Two self-declared trans men took part as standard patients. Of the 25 undergraduate students taking part, 92% managed to avoid behavior that reflected value judgements. However, 44% found it difficult to use their social name and the corresponding pronouns. 60% of the participants found it difficult to provide counselling on health promotion and prevention. In the debriefing, the students found it challenging to address sexual practices and reported a lack of knowledge about the referral process to TGD care services. Undergraduates were receptive when exposed to the scenario developed.
Conclusions: Realistic simulation can be useful for exposing students to scenarios that are little explored during their graduation and foster the development of cultural competences in caring for TGD individuals.
MiR-27a-5p inhibits malignant progression of differentiated thyroid cancer through SREBP1 and is associated with thyrotropin suppressive therapy
Authors: Xie Zilan , Liu Jianqiu , Zhou Jiating , Zhang Xuan , Li Zhi 
Published: September 2024

Abstract

Purpose
To detect the expression of miR-27a-5p in differentiated thyroid cancer (DTC) and to explore its correlation with SREBP1 expression, DTC malignant progression, and TSH suppression therapy.
Methods
The expression levels of SREBP1 and miR-27a-5p in DTC tissues (n = 75) were detected by qRT-PCR. The expression of miR-27a-5p and SREBP1 was statistically analyzed for correlation with patients' postoperative TSH inhibition therapy. Dual luciferase reporter gene assay was performed to verify the target-regulatory relationship between miR-27a-5p and SREBP1. qRT-PCR and Western blots were performed to detect the effect of miR-27a-5p on the expression level of SREBP1. mts, plate clone formation assay was performed to detect the effect of miR-27a-5p on the proliferative capacity of cells. Flow cytometry was performed to detect the effect of miR-27a-5p on cell cycle and apoptosis. Scratch assay and Transwell assay to detect the effect of miR-27a-5p on cell migration invasion ability.
Results
MiR-27a-5p expression was significantly downregulated in DTC cancer tissues and significantly negatively correlated with SREBP1 expression. It correlated with the outcome of postoperative TSH suppression therapy in DTC patients. The results of dual luciferase reporter gene assay showed that the 3'-UTR region of SREBP1 mRNA was the target site of action of miR-27a-5p. Overexpression of miR-27a-5p was associated with a significant reduction in cell proliferation, cell cycle arrest, increased apoptosis, and diminished cell invasive migration.
Conclusion
The miR-27a-5p expression level was negatively correlated with the progression of DTC, which may be inhibited by targeting SREBP1 and correlated with the outcome of TSH inhibitory therapy.