bluuebunny/crossref_metadata_2025_split huggingface dataset:
Outcomes of BRCA pre-implantation genetic testing according to the parental mutation origin: a cohort study
Authors: Weizel Ilana , Shavit Tal , Shuli Yulia , Adler Lazarovich Chana , Halevi Rivka , Ben Ari Tal , Yaacobi-Artzi Shira , Bentov Yaakov , Feldman Baruch , Hershko Klement Anat 
Published: January 2024

Abstract
Background
The process of gamete formation and early embryonic development involves rapid DNA replication, chromosome segregation and cell division. These processes may be affected by mutations in the BRCA1/2 genes. The aim of this study was to evaluate BRCA mutation inheritance and its effect on early embryonic development according to the parental origin of the mutation. The study question was approached by analyzing in vitro fertilization cycles (IVF) that included pre-implantation testing (PGT-M) for a BRCA gene mutation.

Methods
This retrospective cohort study compared cycles of pre-implantation genetic testing for mutations (PGT-M) between male and female patients diagnosed with BRCA 1/2 mutations (cases), to a control group of two other mutations with dominant inheritance (myotonic dystrophy (MD) and polycystic kidney disease (PKD)). Results were compared according to mutation type and through a generalized linear model analysis.

Results
The cohort included 88 PGT-M cycles (47 BRCA and 41 non-BRCA) among 50 patients. Maternal and paternal ages at oocyte retrieval were comparable between groups. When tested per cycle, FSH dose, maximum estradiol level, oocytes retrieved, number of zygotes, and number of embryos available for biopsy and affected embryos, were not significantly different among mutation types. All together 444 embryos were biopsied: the rate of affected embryos was comparable between groups. Among BRCA patients, the proportion of affected embryos was similar between maternal and paternal mutation origin (p = 0.24). In a generalized linear model analysis, the relative oocyte yield in maternal BRCA patients was significantly lower (0.7, as related to the non BRCA group)(p < 0.001). Zygote formation and blastulation were not affected by the BRCA gene among paternal cases (P = 0.176 and P = 0.293 respectively), nor by paternal versus maternal BRCA carriage (P = 0.904 and P = 0.149, respectively).

Conclusions
BRCA PGT-M cycles performed similarly compared to non-BRCA cycles. Inheritance rate and cycle parameters were not affected by the parental origin of the mutation.
Non-canonical non-genomic morphogen signaling in anucleate platelets: a critical determinant of prothrombotic function in circulation
Authors: Kulkarni Paresh P. , Ekhlak Mohammad , Dash Debabrata 
Published: January 2024

AbstractCirculating platelets derived from bone marrow megakaryocytes play a central role in thrombosis and hemostasis. Despite being anucleate, platelets express several proteins known to have nuclear niche. These include transcription factors and steroid receptors whose non-genomic functions are being elucidated in platelets. Quite remarkably, components of some of the best-studied morphogen pathways, namely Notch, Sonic Hedgehog (Shh), and Wnt have also been described in recent years in platelets, which regulate platelet function in the context of thrombosis as well as influence their survival. Shh and Notch pathways in stimulated platelets establish feed-forward loops of autocrine/juxtacrine/paracrine non-canonical signaling that helps perpetuate thrombosis. On the other hand, non-canonical Wnt signaling is part of a negative feedback loop for restricting platelet activation and possibly limiting thrombus growth. The present review will provide an overview of these signaling pathways in general. We will then briefly discuss the non-genomic roles of transcription factors and steroid receptors in platelet activation. This will be followed by an elaborate description of morphogen signaling in platelets with a focus on their bearing on platelet activation leading to hemostasis and thrombosis as well as their potential for therapeutic targeting in thrombotic disorders.
Glutamine addiction in tumor cell: oncogene regulation and clinical treatment
Authors: Li Xian , Peng Xueqiang , Li Yan , Wei Shibo , He Guangpeng , Liu Jiaxing , Li Xinyu , Yang Shuo , Li Dai , Lin Weikai , Fang Jianjun , Yang Liang , Li Hangyu 
Published: January 2024

Abstract After undergoing metabolic reprogramming, tumor cells consume additional glutamine to produce amino acids, nucleotides, fatty acids, and other substances to facilitate their unlimited proliferation. As such, the metabolism of glutamine is intricately linked to the survival and progression of cancer cells. Consequently, targeting the glutamine metabolism presents a promising strategy to inhibit growth of tumor cell and cancer development. This review describes glutamine uptake, metabolism, and transport in tumor cells and its pivotal role in biosynthesis of amino acids, fatty acids, nucleotides, and more. Furthermore, we have also summarized the impact of oncogenes like C-MYC, KRAS, HIF, and p53 on the regulation of glutamine metabolism and the mechanisms through which glutamine triggers mTORC1 activation. In addition, role of different anti-cancer agents in targeting glutamine metabolism has been described and their prospective applications are assessed.
Predictive, preventive, and personalized medicine in breast cancer: targeting the PI3K pathway
Authors: Tufail Muhammad , Hu Jia-Ju , Liang Jie , He Cai-Yun , Wan Wen-Dong , Huang Yu-Qi , Jiang Can-Hua , Wu Hong , Li Ning 
Published: January 2024

AbstractBreast cancer (BC) is a multifaceted disease characterized by distinct molecular subtypes and varying responses to treatment. In BC, the phosphatidylinositol 3-kinase (PI3K) pathway has emerged as a crucial contributor to the development, advancement, and resistance to treatment. This review article explores the implications of the PI3K pathway in predictive, preventive, and personalized medicine for BC. It emphasizes the identification of predictive biomarkers, such as PIK3CA mutations, and the utility of molecular profiling in guiding treatment decisions. The review also discusses the potential of targeting the PI3K pathway for preventive strategies and the customization of therapy based on tumor stage, molecular subtypes, and genetic alterations. Overcoming resistance to PI3K inhibitors and exploring combination therapies are addressed as important considerations. While this field holds promise in improving patient outcomes, further research and clinical trials are needed to validate these approaches and translate them into clinical practice.
Graphical Abstract
Empyema caused by Streptococcus constellatus in a patient infected with HIV: a case report and literature review
Authors: Yang Hong-Hong , Li Mei , Yu Qing , Liu Qian , Liu Min 
Published: January 2024

Abstract
Background
Empyema caused by Streptococcus constellatus (S. constellatus) is rare in patients with HIV. To analyze the clinical data of a patient living with HIV (PLHIV), who got empyema caused by S. constellatus, investigating the diagnosis and treatment of this disease through literature review to improve the clinical understanding of this disease.

Case presentation
We have reported here a 58-year-old male PLHIV with cough, wheezing, and fever for 20 days. He has a history type 2 diabetes, alcohol abuse, and a teeth extracted. Chest computed tomography revealed multiple encapsulated pleural effusions, pneumatosis, and partial compressive atelectasis in the right lung. Submission of pleural efusions timely, and then cultures revealed S. constellatus. After comprehensive treatment, including antibiotics, closed pleural drainage, and intrapleural injection of urokinase, the pleural efusion was absorbed, and chest computed tomography also confirmed the improvement.

Conclusions
S. constellatus should not be neglected as a pus pathogen in patients with HIV. comprehensive treatment is important for empyema of S. constellatus.
Ethnobotanical study on medicinal plants in Melit area (North Darfur), Western Sudan
Authors: Muhakr Mohammed Almustafa Yosif Mohammed , Ahmed Ikram Madani , El hassan Gihan Omer Mohamed , Yagi Sakina 
Published: January 2024

Abstract
Background
The documentation of ethnobotanical knowledge in Sudan is restricted to specific regions, and there is a far-reaching lack of written information on the traditional use of medicinal plants in other places like Darfur State, in western Sudan. The present study was designed to document the medicinal plants used in traditional medicine of Melit area in North Darfur State.

Method
Ethnomedicinal information was collected from 135 local informants through semi-structured questionnaires. Data were analysed for use value (UV), informant consensus factor (ICF) and fidelity level.

Results
A total of 59 medicinal plants, belonging to 32 families and 55 genera, were recorded for their traditional uses in Melit area. Fabaceae were represented by highest number of species (13) followed by Asteraceae and Malvaceae (4 each) and Poaceae (3). Herbs comprise the main sources (50.8%) of traditional remedies. Fruits and stem bark (17.9% each) were the major plant parts used. Decoction (36.5%) is the most mode of preparation used. Geigeria alata was most commonly used species with UV of 2.37. The highest ICF values were recorded for swellings (ICF = 1.00) and respiratory system (ICF = 0.95) categories. Ten plants, namely Carica papaya, Corchorus trilocularis, Eragrostis cilianensis, Heliotropium sudanicum, Mollugo cerviana, Psiadia punctulate, Rhynchosia minima, Solanum coagulans, Solanum forskalii and Tephrosia purpurea, were cited for the first time as medicinal plants used in Sudan traditional medicine. Resins of Boswellia papyrifera, seeds of Nigella sativa, pods of Vachellia nilotica (syn. Acacia nilotica) and clove of Syzygium aromticum were used to make different preparations for the treatment of the corona virus.

Conclusion
This is the first ethnobotanical survey conducted in this region which is always suffering from security issues, and results indicated that Melit area harbours high diversity of plants used traditionally to cure different health conditions. The present study aids in conserving such rich heritage, and it is recommended that the newly reported species worth further studying over their phytochemical and biological properties.
Comparison of clinical outcomes between unilateral biportal endoscopic discectomy and percutaneous endoscopic interlaminar discectomy for migrated lumbar disc herniation at lower lumbar spine: a retrospective controlled study
Authors: Wu Shan , Zhong Dian , Zhao Guosheng , Liu Yang , Wang Yang 
Published: January 2024

Abstract
Background
Both Unilateral Biportal Endoscopic Discectomy (UBED) and Percutaneous Endoscopic Interlaminar Discectomy (PEID) have resulted in favorable clinical outcomes in the management of LDH. The aim of this study is to comprehensively compare the efficacy of UBED and PEID in treating migrated LDH in the lower lumbar spine, with a specific focus on high-grade migrated LDH.

Methods
96 patients who underwent UBED (31 cases) and PEID (65 cases) procedures were enrolled in the study. All patients received a minimum follow-up period of 6 months. Clinical outcomes of the patients were assessed with incision length, operation time, total hemoglobin loss, hospital stay, intraoperative fluoroscopy times, visual analogue scale (VAS) for lower back and leg pain, Oswestry disability index (ODI), modified MacNab criteria, complications, area of lamina loss and increased intervertebral height.

Results
The VAS scores for lower back and leg pain and ODI significantly decreased in both groups after the operation. Preoperatively, at 1 day, 1 month, and 6 months after the procedure, the VAS and ODI scores exhibited no significant differences between the two groups. There was no significant difference in terms of modified MacNab criteria, area of lamina loss, and increased intervertebral height. The UBED group had a longer incision length, operation time and postoperative hospital stay, and fewer intraoperative fluoroscopy times than to the PEID group. Complications were noted in both groups throughout the follow-up period, but there was no significant difference in the rate of complications. Moreover, there were no notable differences in clinical outcomes between the two groups in the high-grade migrated LDH.

Conclusions
Both UBED and PEID could achieve favorable clinical outcomes for treating migrated LDH at the lower lumbar spine. Despite the longer operative time and postoperative hospital stay associated with the UBED group, UBED remains safe and innovative for treating migrated LDH at the lower lumbar spine.
Effectiveness of focused extracorporeal shock wave versus manual therapy in postpartum patients with sacroiliac joint dysfunction: a prospective clinical trial
Authors: Tan Kuai-ling , Wang Rong , Liu Jiao-jiao , Peng Yue , Li Huan , Li Cui-ying 
Published: January 2024

Abstract
Objective
To investigate the effectiveness of focused extracorporeal shock wave therapy (FESWT) in treating postpartum sacroiliac joint (SIJ) dysfunction.

Methods
A total of 90 patients with SIJ dysfunction were included and randomly assigned to FESWT, manual therapy (MT), or combination therapy (CT) groups. Pain intensity and Oswestry Disability Index (ODI) score were measured upon admission, after 1 and 2 weeks of treatments. The treatment efficacy and adverse events of each group were also assessed.

Results
There were no significant differences among three groups regarding clinical data, pain intensity, and ODI score on admission (all P > 0.05). After 1 week of treatment, FESWT exhibited similar pain intensity and lower ODI score (P < 0.001) compared to MT. After 2 weeks of treatment, the pain and ODI in FESWT were similar with MT. The pain in CT was lower than MT after 1 week, but lower than FESWT after 2 weeks. Furthermore, we identified interaction effects between treatment method and duration in relation to pain intensity (Fgroup*time = 5.352, P = 0.001) and ODI score (Fgroup*time = 5.902, P < 0.001). FESWT group exhibited the highest improvement rate of 66.7%, while CT group achieved the highest cure rate of 73.3%. No adverse events were observed in any of the patients during 2 months follow-up period.

Conclusions
Compared to MT, FESWT mainly reduced the ODI score rather than pain after 1 week of treatment. After 2 weeks, the effect of FESWT in relieving the pain was inferior to the MT.
Baseplate inferior offset affects shoulder range of motion in reverse shoulder arthroplasty in Asian population
Authors: Yamada Erina , Kozono Naoya , Nabeshima Akira , Tashiro Eiji , Nakashima Yasuharu 
Published: January 2024

Abstract
Background
Impingement is a common complication of reverse shoulder arthroplasty. Placement of the baseplate with a wide impingement-free angle is ideal; however, there are few studies on Asian populations, which have smaller height and physique, and there is a lack of guidance on achieving optimal outcomes. The purpose of the present study was to explore the impingement-free range of motion reverse shoulder arthroplasty and analyze the suitable baseplate position or tilt for the Asian population using simulation software.

Methods
We uploaded computed tomography scan data from 20 Asian patients to three-dimensional (3D) simulation software. The implantation of the reverse shoulder arthroplasty component was performed on the 3D humerus and scapula using software, and range of motion was assessed until impingement occurred.

Results
The range of motion in flexion significantly improved when the baseplate was lowered up to 3 mm inferiorly. Range of motion in abduction and internal and external rotation significantly improved as the baseplate was lowered up to 4 mm. There was no significant difference in range of motion in any motion after changing the inferior tilt, except in internal and external rotation.

Conclusions
The range of motion in abduction, flexion, and internal and external rotations significantly improved with increased inferior offset. These results may prove valuable in determining the optimal baseplate position for RSA, particularly in Asian populations.
Randomized controlled trial of remote ischemic preconditioning in children having cardiac surgery
Authors: Law Yuk M. , Hsu Christine , Hingorani Sangeeta R. , Richards Michael , McMullan David M. , Jefferies Howard , Himmelfarb Jonathan , Katz Ronit 
Published: January 2024

Abstract
Background
Children undergoing cardiac surgery are at risk for acute kidney injury (AKI) and cardiac dysfunction. Opportunity exists in protecting end organ function with remote ischemic preconditioning. We hypothesize this intervention lessens kidney and myocardial injury.

Methods
We conducted a randomized, double blind, placebo controlled trial of remote ischemic preconditioning in children undergoing cardiac surgery. Pre-specified end points are change in creatinine, estimated glomerular filtration rate, development of AKI, B-type natriuretic peptide and troponin I at 6, 12, 24, 48, 72 h post separation from bypass.

Results
There were 45 in the treatment and 39 patients in the control group, median age of 3.5 and 3.8 years, respectively. There were no differences between groups in creatinine, cystatin C, eGFR at each time point. There was a trend for a larger rate of decrease, especially for cystatin C (p = 0.042) in the treatment group but the magnitude was small. AKI was observed in 21 (54%) of control and 16 (36%) of treatment group (p = 0.094). Adjusting for baseline creatinine, the odds ratio for AKI in treatment versus control was 0.31 (p = 0.037); adjusting for clinical characteristics, the odds ratio was 0.34 (p = 0.056). There were no differences in natriuretic peptide or troponin levels between groups. All secondary end points of clinical outcomes were not different.

Conclusions
There is suggestion of RIPC delivering some kidney protection in an at-risk pediatric population. Larger, higher risk population studies will be required to determine its efficacy.
Trial registration and date: Clinicaltrials.gov NCT01260259; 2021.
The experiences and impact of the COVID-19 pandemic on young carers: practice implications and planning for future health emergencies
Authors: Hayes D , Fancourt D , Burton A 
Published: January 2024

Abstract
Background
Young carers are children or young people aged up to 25 years old who undertake unpaid caring responsibilities for a friend or family member. Young carers faced significant challenges brought on by the COVID-19 pandemic. We explored the impact of the pandemic and associated restrictions on mental health, wellbeing and access to support in young carers in the United Kingdom (UK) to understand how to improve services, as well as support this population in future health emergencies.

Method
We conducted 22 qualitative semi-structured interviews from May to November 2021 with 14 young carers and eight staff working in organisations that supported them. Interviews took place remotely over video or telephone call and explored participant experiences of the pandemic and its impact on their health, wellbeing and caring responsibilities. We used reflexive thematic analysis to analyse interview transcripts.

Results
We identified four overarching themes pertaining to the impact of the pandemic and associated restrictions on mental health, wellbeing and access to support in young carers in the UK: (1) challenges in protecting loved ones from the virus, (2) changes to and loss of routine, (3) reduced access to pre-pandemic informal and formal support structures and (4) better understanding of inner resilience and goals. Many participants struggled with their mental health and wellbeing as a result of pandemic related restrictions which impacted on support structures for themselves and the individual they cared for. However, positive impacts pertained to additional support provided by local authority and third sector organisations.

Conclusions
Our findings highlight some of the changes that affected young carers during the COVID-19 pandemic. The impact of changes to routine and a reduction in pre-pandemic support were the greatest concerns reported by participants in this study. The additional support provided by local authority and third sector organisations during social restrictions suggests such organisations could play a greater role in supporting this population going forward and that schools and Governments may wish to put in additional strategies and provisions to protect young carers in the future.
Pharmacotherapy for obesity: moving towards efficacy improvement
Authors: Coutinho Walmir , Halpern Bruno 
Published: January 2024

AbstractObesity is a chronic, recurring, progressive disease and a major public health problem associated with several other diseases that lead to disability, morbidity, and mortality. The prevalence of obesity has increased at pandemic levels, along with increasing weight-related comorbidities and deaths worldwide. Lifestyle interventions alone provide clinically significant long-term weight loss in only a small proportion of individuals, and bariatric surgery is not suitable or desirable for all patients. Historically, anti-obesity medications achieved a mean efficacy with weight loss between 5 and 10%, which significantly impacted several comorbidities and risk factors, but the average efficacy of these medications remained lower than that expected by both patients and health care professionals and eventually curbed long-term use. Moreover, there is no direct evidence on the impact of anti-obesity medications on cardiovascular outcomes. Semaglutide is a newer anti-obesity medication that changes the overall landscape, as phase 3 studies show a mean weight loss near the 15% threshold and significant proportions of patients with a weight loss of greater than 20%. In this review, we focus on the currently available anti-obesity medications, discuss the results of semaglutide, and present perspectives on the future of obesity treatment after semaglutide.