bluuebunny/crossref_metadata_2025_split huggingface dataset:
Surgical outcomes of pars plana vitrectomy for intraocular complications related to vasoproliferative tumour of the retina
Authors: Lee Zher Jong Joel , Jawaheer Lona , Spiteri-Cornish Kurt , Chawla Anand 
Published: July 2023

Abstract

Purpose:
To investigate the safety and efficacy of vitrectomy (PPV) in managing intraocular complications relating to vasoproliferative tumours of the retina (VPL).

Methods:
Retrospective study. 17 VPL patients who underwent vitrectomy at Sheffield Teaching Hospital NHS Trust from 2005 to 2020 were included. Patient demographics, clinical characteristics, intraoperative data and surgical outcomes were collected and evaluated.

Results:
The mean age was 52 years. Indications for PPV included epiretinal membrane (ERM, n=7), vitreous haemorrhage (VH, n=5), retinal detachment (RD, n=3), diagnostic (n=1) and others (n=1). After PPV, 14/17(82.4%) have stabilised vision, and 3/17(17.6%) deteriorated. Subgroup analysis of ERM peel had good outcomes with 6/7(85.7%) noticing improvement or stabilisation of symptoms, mean LogMAR visual acuity improved from 0.719[6/30]±0.267[6/12] to 0.476[6/19]±0.271[6/12]. Patients undergoing surgery for VH also had good outcomes with resolution (and no recurrence) of the haemorrhage in 3/5(60%) and 5/5(100%) with one or more surgeries respectively. Outcomes for RD surgery were LogMAR 2.126[HM]±0.301[6/12] pre-operatively and 1.185[6/95]±0.522[6/19] post-operatively, with one recurrence of retinal detachment. In the ERM group, 3 patients had adjunctive treatment for VPL intraoperatively and 4 patients had none, no difference found between the two groups in terms of outcome or complications. Tumour with thickness of ≥2mm exhibited inferior visual outcomes compared to <2mm (p<0.05).

Conclusions:
This is one of the largest datasets in looking at outcomes of vitrectomy for complications of VPL. PPV is effective and safe in managing VPL-related intraocular complications with good outcomes and a low rate of complications, especially for patients with ERM and VH.
Raising the self-esteem and reducing irrational beliefs of schoolchildren: The moderating and main effect study
Authors: Onyemaechi Ede Moses , Okeke Chinedu Ifedi , Oneli Joy Obiageli 
Published: July 2023

Background:
Several systematic reviews and meta-analyses studies have called for moderators of treatment outcomes and their main effect with regard to disadvantaged populations. In view of that, this study investigated the impacts and moderators of rational emotive behavior therapy (REBT) on the self-esteem and irrational beliefs of Schoolchildren in Ebonyi State Nigeria.

Methods:
A group randomized controlled design was utilized to assign 55 schoolchildren to the treatment group and 55 schoolchildren to waitlisted control group. Two self-report measures (Self-Esteem Scale and Children Adolescent Scale of Irrationality) were used to assess the participants. There were pretest, posttest, and follow-up tests given at different intervals to ascertain the baseline, main effect, and long-term effects of the treatment. The data collected were analyzed using a 2-way analysis of covariance statistic.

Results:
The results of the 2-way analysis of covariance demonstrated a difference between participants in the waitlisted control group at the pretest, posttest, and follow-up test and a positive improvement in schoolchildren with illogical beliefs as a result of exposure to REBT intervention. It was discovered that the REBT intervention changed schoolchildren’s self-esteem and irrational views into rational ones. A later test result supported the intervention’s consistent and significant effects in lowering illogical beliefs and raising students’ self-esteem. The results also showed that there is no connection between gender and group membership.

Conclusion:
This study suggests that REBT is a significant treatment strategy that reduces irrational beliefs and improves the self-esteem of primary school children. Based on these outcomes, further studies should replicate the study in other cultures with such a disadvantaged group.
Tumor-induced osteomalacia combined with increased bone resorption postoperatively: A case report
Authors: Shi Lingfeng , Tang Mengjia , Duan Shanshan , Deng Fang , Zhang Yuping , Yang Jing , Hu Jiongyu 
Published: July 2023

Rationale:
Rare tumor-induced osteomalacia (TIO) usually resulted in bone pain, fragility fractures and muscle weakness in clinical, which is caused by the reduced phosphate reabsorption, thus impaired mineralization of the bone matrix and free energy transfer. The specific problems in postsurgical patients are obscure although surgical removal of the tumor is the only definitive treatment. Here, we documented a female TIO patient who suffered more severe bone pain and muscle spasms post-operation. Further, we presented and discussed our explanation for the unexpected symptoms.

Patient concerns:
The main symptoms were whole-body pain and muscle weakness. The patient also presented with osteoporosis and multiple fractures.

Diagnosis:
Elevated serum fibroblast growth factor 23 (FGF23) level and hypophosphatemia indicated the diagnosis of TIO. Positron emission tomography (PET)/computed tomography (CT) with 68 Ga-DOTATATE located the tumor in the dorsolateral part of the left foot. Histopathological examinations confirmed the diagnosis.

Interventions:
The tumor was surgically removed immediately after the diagnosis of TIO and localization of the tumor. Postoperatively, calcium carbonate supplement treatment was continued.

Outcomes:
Two days after surgery, the serum FGF23 level was decreased to the normal range. Five days after surgery, N-terminal propeptide of type I procollagen and β-CrossLaps (β-CTx) had a remarkable increase. A month after surgery, the patient N-terminal propeptide of type I procollagen and β-CTx levels were decreased obviously, and serum FGF23, phosphate and 24h urinary phosphate were in the normal range.

Lessons:
We report a female patient who presented with osteoporosis and fractures. She was found with an elevation of FGF23 and diagnosis with TIO after PET/CT scanning. After surgically removing the tumor, the patient experienced more severe bone pain and muscle spasms. Active bone remodeling might be the reason for the symptoms. Further study will reveal the specific mechanism for this abnormal bone metabolism.
Advances in cochlear gene therapies
Authors: Klimara Miles J. , Smith Richard J.H. 
Published: July 2023

Purpose of review
Hearing loss is the most common sensory deficit and in young children sensorineural hearing loss is most frequently genetic in etiology. Hearing aids and cochlear implant do not restore normal hearing. There is significant research and commercial interest in directly addressing the root cause of hearing loss through gene therapies. This article provides an overview of major barriers to cochlear gene therapy and recent advances in preclinical development of precision treatments of genetic deafness.

Recent findings
Several investigators have recently described successful gene therapies in many common forms of genetic hearing loss in animal models. Elegant strategies that do not target a specific pathogenic variant, such as mini gene replacement and mutation-agnostic RNA interference (RNAi) with engineered replacement, facilitate translation of these findings to development of human therapeutics. Clinical trials for human gene therapies are in active recruitment.

Summary
Gene therapies for hearing loss are expected to enter clinical trials in the immediate future. To provide referral for appropriate trials and counseling regarding benefits of genetic hearing loss evaluation, specialists serving children with hearing loss such as pediatricians, geneticists, genetic counselors, and otolaryngologists should be acquainted with ongoing developments in precision therapies.
Differential genome-wide associated variants and enriched pathways of electrocardiogram parameters among people with versus without HIV
Authors: He Jiayu , Ding Yingying , Lin Haijiang , Liu Xing , Chen Xiaoxiao , Shen Weiwei , Zhou Sujuan , Feng Cheng , Wang Miaochen , Xia Jingjing , He Na 
Published: July 2023

Objectives:
People with HIV (PWH) are more likely to develop electrocardiogram (ECG) abnormalities. Substantial evidence exists for genetic contribution to ECG parameters among general population. However, whether and how would host genome associate with ECG parameters among PWH is unclear. Our research aims to analyze and compare genetic variants, mapped genes and enriched pathways of ECG parameters among PWH and HIV-negative controls.

Design:
A cross-sectional study.

Method:
We performed a large original genome-wide association study (GWAS) of ECG parameters among PWH (n = 1730) and HIV-negative controls (n = 3746). Genome-wide interaction analyses were also conducted.

Results:
A total of 18 novel variants were detected among PWH, six for PR interval including rs76345397 at ATL2, eleven for QRS duration including rs10483994 at KCNK10 and rs2478830 at JCAD, and one for QTc interval (rs9815364). Among HIV-negative controls, we identified variants located at previously reported ECG-related genes (SCN5A, CNOT1). Genetic variants had a significant interaction with HIV infection (P < 5 × 10−8), implying that HIV infection and host genome might jointly influence ECG parameters. Mapped genes for PR interval and QRS duration among PWH were enriched in the biological process of viral genome replication and host response to virus, respectively, whereas enriched pathways for PR interval among HIV-negative controls were in the cellular component of voltage-gated sodium channel complex.

Conclusion:
The present GWAS indicated a distinctive impact of host genome on quantitative ECG parameters among PWH. Different from HIV-negative controls, host genome might influence the cardiac electrical activity by interfering with HIV viral infection, production and latency among PWH.
Nasal-Type Extranodal Natural Killer/T-Cell Lymphoma Recurrence at Penile Glans Masquerading Urinary Contamination on 18F-FDG PET/CT
Authors: Zhang Yue , Yu Liqian , Wang Rang , Su Minggang 
Published: July 2023

Abstract
A 69-year-old man with a history of extranodal NK/T-Cell lymphoma, nasal type (ENKTL-NT) performed an interim 18F-FDG PET/CT for response evaluation. It showed an intense focal uptake at his penile glans, which was suspected as urinary contamination initially. However, he complained with redness and swelling of his penis during further history inquiry. After careful observation, the diagnosis of ENKTL-NT recurrence at penile glans was highly suspected. It was confirmed by percutaneous biopsy of the penile glans finally.
Epigenetic Germline Variants Predict Cancer Prognosis and Risk and Distribute Uniquely in Topologically Associating Domains
Authors: Goudarzi Shervin , Pagadala Meghana , Klie Adam , Talwar James V. , Carter Hannah 
Published: July 2023

ABSTRACTCancer is a highly heterogeneous disease caused by genetic and epigenetic alterations in normal cells. A recent study uncovered methylation quantitative trait loci (meQTLs) associated with different levels of local DNA methylation in cancers. Here, we investigated whether the distribution of cancer meQTLs reflected functional organization of the genome in the form of chromatin topologically associated domains (TADs), and evaluated whether cancer meQTLs near known driver genes have the potential to influence cancer risk or progression. At TAD boundaries, we observed differences in the distribution of meQTLs when one or both of the adjacent TADs was transcriptionally active, with higher densities near inactive TADs. Furthermore, we found differences in cancer meQTL distributions in active versus inactive TADs and observed an enrichment of meQTLs in active TADs near tumor suppressors, whereas there was a depletion of such meQTLs near oncogenes. Several meQTLs were associated with cancer risk in the UKBioBank, and we were able to reproduce breast cancer risk associations in the DRIVE cohort. Survival analysis in TCGA implicated a number of meQTLs in 13 tumor types. In 10 of these, polygenic meQTL scores were associated with increased hazard in a CoxPH analysis. Risk and survival-associated meQTLs tended to affect cancer genes involved in DNA damage repair and cellular adhesion and reproduced cancer-specific associations reported in prior literature. In summary, this study provides evidence that genetic variants that influence local DNA methylation are affected by chromatin structure and can impact tumor evolution.
Factors associated with mental health disorders among students at Busitema University, an exploratory qualitative study among students at Mbale and Busia campus
Authors: Kagoya Enid Kawala , Mpagi Joseph.L. , Waako Paul , Wandabwa Julius , Saphina Biira , Birabwa Elizabeth , Acon Sophie , Otim Daniel , Kucel Samuelbaker , Kirabira Joseph 
Published: July 2023

AbstractBackgroundFollowing the loss of several students at Busitema University faculty of health sciences and other branches, there was an urgent need to understand the factors contributing to the death of the students and it was anticipated that most of them succumbed to mental health issues. This study aimed to explore the potential factors associated with mental health disorders among students at Busitema University.MethodsKey informant interviews were conducted among the students who were diagnosed with mental health disorders. A total of 42 key informant interviews were conducted following a well-structured interview grid. All participants consented during the study. Each interview was audiotaped and recordings were later subjected to verbatim transcription. Each transcript was carefully reviewed by the principal investigator prior to the analysis. Thematic content analysis was done following a deductive approach. Dedoose software was used to support the coding and categorization of thematic areas.ResultsThe results indicate that several factors associated with mental health disorders included alcohol and substance use, poor learning environment, stringent and unfavourable university policies, the big gap that exists between students and administration, relationship challenges, academic pressure, family factors (Broken families, poverty), Gambling, lack of curricular activities, poor counselling services and political pressures.ConclusionsConsidering the high propensity of mental health issues that hinder the success of students at the university level. It’s worth paramount for universities to continually evaluate the mental health of their students and tailor treatment programs and other cost-effective interventions to specifically target students.
Use of supervised machine learning algorithms in predicting postoperative mortality in gastrointestinal and HPB surgeries
Authors: Vasavada Bhavin 
Published: July 2023

AbstractAim of the studyThis study aims to evaluate supervised machine learning algorithms in predicting 90 days post-operative mortality in gastrointestinal and HPB surgeries and comparing them with standard logistic regression methods.MethodsWe evaluated various supervised machine learning classification algorithms like gradient boosting, K-nearest neighbours, random forest, and support vector machines with standard logistic regression methods. We used accuracy and the Receiver operating curve to compare the methods. 60% of the data were used for training, 20% for validation and 20% for testing. We used JASP 0.16.04 by the University of Amsterdam to run machine learning algorithms and statistical analysis.ResultsWe used data from 504 patients who have undergone gastrointestinal and hepatopancreatic biliary surgery between April 2016 and March 2023. We analyzed algorithms for predicting 90 days post-operative mortality based on features like Major surgeries, Surgeries for malignancies, age, CDC grade of surgeries, Intraoperative hypotension, Open vs Laparoscopic surgeries, ASA grade, Emergency surgeries, Operative time, Intraoperative blood product used, colorectal surgeries, small intestinal surgeries, HPB surgeries, upper gastrointestinal surgeries and hernia. Test accuracies were 96% for gradient boosting, 90 % for K-nearest neighbours, 96% for the random forest, 94% for support vector and Areas under the ROC curve were 0.802 for gradient boosting, 0.489 for K-nearest neighbours, 0.934 for random forest and 0.5 for support vector algorithms. Accuracy and Area under the ROC curve with standard logistic regression method were 94% and 0.757. Features of importance in decreasing order were ASA, operative times, blood products, small bowel surgeries and Age.ConclusionSupervised machine learning algorithms particularly gradient boosting and random forest predicted 90 days post-operative mortality more accurately than logistic regression and such models can be part of the preoperative evaluation in gastrointestinal and HPB surgeries.
Examining ChatGPT’s Ability to Answer Cirrhosis Related Questions in Arabic Compared to English
Authors: Samaan Jamil S. , Yeo Yee Hui , Ng Wee Han , Ting Peng-Sheng , Trivedi Hirsh , Vipani Aarshi , Yang Ju Dong , Liran Omer , Spiegel Brennan , Kuo Alexander , Ayoub Walid 
Published: July 2023

ABSTRACTBackground and Study AimsCirrhosis is a chronic progressive disease which requires complex care. Its incidence is rising in the Arab countries making it the 7thleading cause of death in the Arab League in 2010. ChatGPT is a large language model with a growing body of literature demonstrating its ability to answer clinical questions. We examined ChatGPT’s accuracy in responding to cirrhosis related questions in Arabic and compared its performance to English.Materials and MethodsChatGPTs responses to 91 questions in Arabic and English were graded by a transplant hepatologist fluent in both languages. Accuracy of responses was assessed using the scale: 1. Comprehensive, 2. Correct but inadequate, 3. Mixed with correct and incorrect/outdated data, and 4. Completely incorrect. Accuracy of Arabic compared to English responses was assessed using the scale: 1. Arabic response is more accurate, 2. Similar accuracy, 3. Arabic response is less accurate.ResultsThe model provided 22 (24.2%) comprehensive, 44 (48.4%) correct but inadequate, 13 (14.3%) mixed with correct and incorrect/outdated data and 12 (13.2%) completely incorrect Arabic responses. When comparing the accuracy of Arabic and English responses, 9 (9.9%) of the Arabic responses were graded as more accurate, 52 (57.1%) similar in accuracy and 30 (33.0%) as less accurate compared to English.ConclusionChatGPT has the potential to serve as an adjunct source of information for Arabic speaking patients with cirrhosis. The model provided correct responses in Arabic to 72.5% of questions, although its performance in Arabic was less accurate than in English. The model produced completely incorrect responses to 13.2% of questions, reinforcing its potential role as an adjunct and not replacement of care by licensed healthcare professionals. Future studies to refine this technology are needed to help Arabic speaking patients with cirrhosis across the globe understand their disease and improve their outcomes.
Genetic structure of major depression symptoms across clinical and community cohorts
Authors: Adams Mark J , Thorp Jackson G , Jermy Bradley S , Kwong Alex S F , Kõiv Kadri , Grotzinger Andrew D , Nivard Michel G , Marshall Sally , Milaneschi Yuri , Baune Bernhard T , Müller-Myhsok Bertram , Penninx Brenda WJH , Boomsma Dorret I , Levinson Douglas F , Breen Gerome , Pistis Giorgio , Grabe Hans J , Tiemeier Henning , Berger Klaus , Rietschel Marcella , Magnusson Patrik K , Uher Rudolf , Hamilton Steven P , Lucae Susanne , Lehto Kelli , Li Qingqin S , Byrne Enda M , Hickie Ian B , Martin Nicholas G , Medland Sarah E , Wray Naomi R , Tucker-Drob Elliot M ,   Estonian Biobank Research Team,   Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Lewis Cathryn M , McIntosh Andrew M , Derks Eske M 
Published: July 2023

AbstractDiagnostic criteria for major depressive disorder allow for heterogeneous symptom profiles but genetic analysis of major depressive symptoms has the potential to identify clinical and aetiological subtypes. There are several challenges to integrating symptom data from genetically-informative cohorts, such as sample size differences between clinical and community cohorts and various patterns of missing data. We conducted genome-wide association studies of major depressive symptoms in three clinical cohorts that were enriched for affected participants (Psychiatric Genomics Consortium, Australian Genetics of Depression Study, Generation Scotland) and three community cohorts (Avon Longitudinal Study of Parents and Children, Estonian Biobank, and UK Biobank). We fit a series of confirmatory factor models with factors that accounted for how symptom data was sampled and then compared alternative models with different symptom factors. The best fitting model had a distinct factor forAppetite/Weightsymptoms and an additional measurement factor that accounted for missing data patterns in the community cohorts (use of Depression and Anhedonia as gating symptoms). The results show the importance of assessing the directionality of symptoms (such as hypersomnia versus insomnia) and of accounting for study and measurement design when meta-analysing genetic association data.