bluuebunny/crossref_metadata_2025_split huggingface dataset:
A loss-of-function variant in ZCWPW1 causes human male infertility with sperm head defect and high DNA fragmentation
Authors: Song Yuelin , Guo Juncen , Zhou Yanling , Wei Xingjian , Li Jianlan , Zhang Guohui , Wang Hongjing 
Published: February 2024

Abstract
Background
Male infertility is a global health issue. The more causative genes related to human male infertility should be further explored. The essential role of Zcwpw1 in male mouse fertility has been established and the role of ZCWPW1 in human reproduction needs further investigation to verify.

Methods
An infertile man with oligoasthenoteratozoospermia phenotype and his parents were recruited from West China Second University Hospital, Sichuan University. A total of 200 healthy Han Chinese volunteers without any evidence of infertility were recruited as normal controls, while an additional 150 infertile individuals were included to assess the prevalence of ZCWPW1 variants in a sporadic male sterile population. The causative gene variant was identified by Whole-exome sequencing and Sanger sequencing. The phenotype of the oligoasthenoteratozoospermia was determined by Papanicolaou staining, immunofluorescence staining and electron microscope. In-vitro experiments, western blot and in-silicon analysis were applied to assess the pathogenicity of the identified variant. Additionally, we examined the influence of the variant on the DNA fragmentation and DNA repair capability by Sperm Chromatin Dispersion and Neutral Comet Assay.

Results
The proband exhibits a phenotype of oligoasthenoteratozoospermia, his spermatozoa show head defects by semen examination, Papanicolaou staining and electron microscope assays. Whole-exome sequencing and Sanger sequencing found the proband carries a homozygous ZCWPW1 variant (c.1064C > T, p. P355L). Immunofluorescence analysis shows a significant decrease in ZCWPW1 expression in the proband’s sperm. By exogenous expression with ZCWPW1 mutant plasmid in vitro, the obvious declined expression of ZCWPW1 with the mutation is validated in HEK293T. After being treated by hydroxyurea, MUT-ZCWPW1 transfected cells and empty vector transfected cells have a higher level of γ-H2AX, increased tail DNA and reduced H3K9ac level than WT-ZCWPW1 transfected cells. Furthermore, the Sperm Chromatin Dispersion assay revealed the proband’s spermatozoa have high DNA fragmentation.

Conclusions
It is the first report that a novel homozygous missense mutation in ZCWPW1 caused human male infertility with sperm head defects and high DNA fragmentation. This finding enriches the gene variant spectrum and etiology of oligoasthenoteratozoospermia.
Toxicity of external beam accelerated partial-breast irradiation (APBI) in adjuvant therapy of early-stage breast cancer: prospective randomized study
Authors: Burkon Petr , Selingerova Iveta , Slavik Marek , Holanek Milos , Vrzal Miroslav , Coufal Oldrich , Polachova Katerina , Muller Petr , Slampa Pavel , Kazda Tomas 
Published: February 2024

Abstract
Background
Accelerated partial breast irradiation (APBI) is an alternative breast-conserving therapy approach where radiation is delivered in less time compared to whole breast irradiation (WBI), resulting in improved patient convenience, less toxicity, and cost savings. This prospective randomized study compares the external beam APBI with commonly used moderate hypofractionated WBI in terms of feasibility, safety, tolerance, and cosmetic effects.

Methods
Early breast cancer patients after partial mastectomy were equally randomized into two arms– external APBI and moderate hypofractionated WBI. External beam technique using available technical innovations commonly used in targeted hypofractionated radiotherapy to minimize irradiated volumes was used (cone beam computed tomography navigation to clips in the tumor bed, deep inspiration breath hold technique, volumetric modulated arc therapy dose application, using flattening filter free beams and the six degrees of freedom robotic treatment couch). Cosmetics results and toxicity were evaluated using questionnaires, CTCAE criteria, and photo documentation.

Results
The analysis of 84 patients with a median age of 64 years showed significantly fewer acute adverse events in the APBI arm regarding skin reactions, local and general symptoms during a median follow-up of 37 months (range 21–45 months). A significant difference in favor of the APBI arm in grade ≥ 2 late skin toxicity was observed (p = 0.026). Late toxicity in the breast area (deformation, edema, fibrosis, and pain), affecting the quality of life and cosmetic effect, occurred in 61% and 17% of patients in WBI and APBI arms, respectively. The cosmetic effect was more favorable in the APBI arm, especially 6 to 12 months after the radiotherapy.

Conclusion
External APBI demonstrated better feasibility and less toxicity than the standard regimen in the adjuvant setting for treating early breast cancer patients. The presented study confirmed the level of evidence for establishing the external APBI in daily clinical practice.

Trial registration
NCT06007118.
Kyphectomy and sliding growing rod technique in patients with congenital lumbar kyphosis deformity with myelomeningocele
Authors: Karataş Muhammed Enes , Bayram Yusuf , Şafak Halid , Kar İlyas , Sağlam Necdet , Uçar Bekir Yavuz 
Published: February 2024

Abstract
Objective
Neural tube defects are the most common congenital disorders after cardiac anomalies. Lumbar kyphosis deformity is observed in 8–15% of these patients. This deformity severely limits the daily lives of these patients. In our study, we aimed to correct the kyphosis angle of the patients with lumbar kyphosis associated with myelomeningocele (MMC) and allow them to continue their growth without limiting their lung capacity by applying kyphectomy and sliding growing rod technique.

Patients and methods
In this study, we retrospectively evaluated 24 patients with congenital lumbar kyphosis deformity associated with MMC, aged between 4 and 9 years, and who applied to Umraniye Training and Research Hospital between the dates of 2018 and 2021. We evaluated preoperative and postoperative kyphosis angles, correction rates, bleeding during operations, operation time, level of instrumentation, number of the resected vertebrae, initial levels of the posterior defects, duration of hospital stays, annual lengthening, and weight of the patients.

Results
Mean age was 5.04 (between 4 and 9). Mean preoperative and early postoperative kyphosis angles were 129.8° (87–175°) and 0.79° (− 20–24°), respectively. The kyphotic deformity correction rate was 99.1%. A difference was found regarding kyphosis measurements between preoperative and early period values (p < 0.05). The annual height lengthening of patients was calculated as 0.74 cm/year and 0.77 cm/year between T1–T12 and T1–S1, respectively. Mean preoperative level of hemoglobin (Hgb) was 11.95, postoperative Hgb value was 10.02, and the decrease was significant (p < 0.05). In terms of complications, 50% (12) had broken/loosen screws, 50% (12) had undergone debridement surgery, 37.5% (9) had vacuum-assisted closure therapy, and 33.3% (8) had to get all of their implants removed.

Conclusion
We believe that our sliding growing rod technique is a new and updated surgical method that can be applied in these patient groups, facilitating the life, rehabilitation process, and daily care of MMC patients with lumbar kyphosis. This technique seems to be a safe and reliable method which preserves lung capacity and allows lengthening.
Differences and relationships between weightbearing and non-weightbearing dorsiflexion range of motion in foot and ankle injuries
Authors: Koshino Yuta , Takabayashi Tomoya , Akuzawa Hiroshi , Mizota Takeshi , Numasawa Shun , Kobayashi Takumi , Kudo Shintarou , Hikita Yoshiki , Akiyoshi Naoki , Edama Mutsuaki 
Published: February 2024

Abstract
Background
This study aimed to: (1) identify assessment methods that can detect greater ankle dorsiflexion range of motion (DROM) limitation in the injured limb; (2) determine whether differences in weightbearing measurements exist even in the absence of DROM limitations in the injured limb according to non-weightbearing measurements; and (3) examine associations between DROM in the weightbearing and non-weightbearing positions and compare those between a patient group with foot and ankle injuries and a healthy group.

Methods
Eighty-two patients with foot and ankle injuries (e.g., fractures, ligament and tendon injuries) and 49 healthy individuals participated in this study. Non-weightbearing DROM was measured under two different conditions: prone position with knee extended and prone position with knee flexed. Weightbearing DROM was measured as the tibia inclination angle (weightbearing angle) and distance between the big toe and wall (weightbearing distance) at maximum dorsiflexion. The effects of side (injured, uninjured) and measurement method on DROM in the patient groups were assessed using two-way repeated-measures ANOVA and t-tests. Pearson correlations between measurements were assessed. In addition, we analyzed whether patients without non-weightbearing DROM limitation (≤ 3 degrees) showed limitations in weightbearing DROM using t-tests with Bonferroni correction.

Results
DROM in patient groups differed significantly between legs with all measurement methods (all: P < 0.001), with the largest effect size for weightbearing angle (d = 0.95). Patients without non-weightbearing DROM limitation (n = 37) displayed significantly smaller weightbearing angle and weightbearing distance on the injured side than on the uninjured side (P < 0.001 each), with large effect sizes (d = 0.97–1.06). Correlation coefficients between DROM in non-weightbearing and weightbearing positions were very weak (R = 0.17, P = 0.123) to moderate (R = 0.26–0.49, P < 0.05) for the patient group, and moderate to strong for the healthy group (R = 0.51–0.69, P < 0.05).

Conclusions
DROM limitations due to foot and ankle injuries may be overlooked if measurements are only taken in the non-weightbearing position and should also be measured in the weightbearing position. Furthermore, DROM measurements in non-weightbearing and weightbearing positions may assess different characteristics, particularly in patient group.

Level of evidence
Level IV, cross-sectional study.
Inflammatory myofibroblastic tumor of the heart in an older woman with paroxysmal atrial fibrillation: a case report and review of the literature
Authors: Luo Fu-Rong , Lin Yi-Fen , Lin Jing-Lian , Liang Xiao-Shan , Xiao Hui-Jun , Huang Rui-Gang 
Published: February 2024

AbstractInflammatory myofibroblastic tumors (IMTs) of the heart are rarely observed in the eldly. We report a case involving an elderly woman with an IMT situated on the right atrial wall. The tumor was fully excised. The patient had a smooth recovery post-surgery and remained free of recurrence for three years.
Chylopericardium following esophagectomy: a case report and systematic review
Authors: Yang Xinglin , Zhang Jinghong , Sun Pengxia , Liu Jihai , Wang Jiangshan , Zhu Huadong 
Published: February 2024

Abstract
Background
Chylopericardium is a rare condition characterized by the accumulation of chyle in the pericardial space. It is most commonly caused by thoracic duct injury. Chylopericardium following esophagectomy is extremely rare but can cause life-threatening complications. This report presents a case of chylopericardium post-esophagectomy, resulting in cardiac tamponade and cardiac arrest. A systematic literature review was also conducted to facilitate the understanding of this rare condition.

Case presentation
A 41-year-old male was admitted to our hospital with intermediate to highly differentiated squamous cell carcinoma of the mid-thoracic esophagus (clinical T4NxM0). He underwent thoracoscopic-laparoscopic esophagectomy with cervical anastomosis. On postoperative day 1, patient had a cardiac arrest secondary to cardiac tamponade, requiring emergency ultrasound-guided drainage. The drained fluid was initially serous but became chylous after the administration of enteral nutritional emulsion. As a result of significant daily pericardial drainage, patient subsequently underwent thoracic duct ligation. The amount of drainage was substantially reduced post-thoracic duct ligation. Over a period of 2 years and 7 months, patient recovered well and tolerated full oral diet. A comprehensive literature review was conducted and 4 reported cases were identified. Among these cases, three patients developed pericardial tamponade secondary to chylopericardium post-esophagectomy.

Conclusion
Chylopericardium is a rare but serious complication post-esophagectomy. Prompt echocardiography and thorough pericardial fluid analysis are crucial for diagnosis. Thoracic duct ligation has been shown to be an effective management approach for this condition.
Single arterial access technique for simultaneous dual mechanical circulatory support in cardiogenic shock
Authors: Fardman Alexander , Dranishnikov Nikolay , Nersesian Gaik , Falk Volkmar , Potapov Evgenij 
Published: February 2024

AbstractTemporary mechanical circulatory support is a treatment of choice for patients in severe cardiogenic shock. Combining veno-arterial extracorporeal life support (ECLS) with devices that enable left ventricular unloading emerges as a promising strategy to diminish detrimental effect of elevated left ventricular afterload and to improve survival. However, the need to establish multiple arterial access sites remains a major drawback of this approach due to a significant rate of vascular complications. We describe herein a case of a single arterial access for ECLS and intra-aortic balloon pump using axillary artery that may provide a simple, modular and flexible approach for escalation or de-escalation of mechanical circulatory support.
Child and adolescent mental health services in Khartoum State, Sudan: a desktop situational analysis
Authors: Abdalhai Khalid A. , Mokitimi Stella , de Vries Petrus J. 
Published: February 2024

Abstract
Background
Sudan is a Northeast African country, with 61.7% of its population under 24 years. With a large youth population and significant cultural and linguistic diversity, Sudan, like most low-income countries, has contributed minimal data to global child and adolescent mental health (CAMH) research. This study aimed to perform the first ever situational analysis of CAMH services and systems in Khartoum State, Sudan.

Methods
The study focused on Khartoum state and covered the calendar years 2019 and 2020. Using the World Health Organization Assessment Instrument for Mental Health Systems (WHO-AIMS) version 2.2 adapted for CAMH, the study focused on the publically available data sources. Findings were described and presented in tables and figures using the WHO-AIMS template.

Results
The situational analysis found no CAMH-specific policies, no separate budget for CAMH, and no supervising body for CAMH services in Khartoum. Three tertiary mental health hospitals provided CAMH services, all combined with adult mental health services. Essential medicines were available in all facilities, except methylphenidate available only in 3 central pharmacies. There was no free access to essential psychotropic drugs for children and adolescents except in emergency settings. Data about training to primary healthcare providers and the process of referral to specialized services were limited. A school mental health programme existed which provided early identification and management of CAMH problems in schools. The workforce was small and variable across all levels of care. No formal public health awareness campaigns and little evidence of formal intersectoral collaboration on CAMH were identified. A health information system existed, but no CAMH-specific items were reported. Among a handful of publications on CAMH, no national studies on CAMH were identified.

Conclusions
This situational analysis represented the first systematic collation of data and information about CAMH in Sudan. Findings highlighted some areas of strength, but also many gaps in CAMH services and systems. We acknowledge the need to complement the desktop analysis with in-depth data collection with stakeholders across multiple levels, but hope that this will serve as a first step towards strengthening CAMH services in Sudan and other low-income countries.
Hyperinsulinemia impairs decidualization via AKT-NR4A1 signaling: new insight into polycystic ovary syndrome (PCOS)-related infertility
Authors: Jiang Nan-Xing , Zhao Wei-Jie , Shen Hao-Ran , Du Dan-feng , Li Xue-Lian 
Published: February 2024

Abstract
Background
Investigating the underlying molecular mechanisms responsible for endometrial dysfunction in women with PCOS is essential, particularly focusing on the role of hyperinsulinemia.

Methods
We explored the role of insulin in the decidualization process using a synthetic decidualization assay. To dissect the effects of PI3K/AKT-NR4A signaling, we employed small interfering RNAs (siRNAs) targeting the NR4A genes and inhibitors of the PI3K/AKT pathway. We also investigated the disruption of AKT-NR4A1 signaling in the endometrium of PCOS female rats induced with dehydroepiandrosterone (DHEA). Quantitative real-time PCR (qRT-PCR) and Western blot (WB) analyses were utilized to evaluate gene expression regulation.

Results
Insulin was found to suppress the expression of decidualization markers in human endometrial stromal cells (hESC) in a dose-dependent manner, concurrently triggering an inappropriate activation of the PI3K/AKT pathway. Members of the NR4A family, as downstream effectors in the PI3K/AKT pathway, were implicated in the insulin-induced disruptions during the decidualization process. Moreover, the endometrium of PCOS models showed significantly elevated levels of phosphorylated (Ser473) AKT, with a corresponding reduction in Nr4a1 protein.

Conclusions
Our research demonstrates that insulin negatively regulates decidualization in hESC via the PI3K/AKT-NR4A pathway. In vivo analysis revealed a significant dysregulation of the AKT-NR4A1 pathway in the endometrium of PCOS rats. These findings offer novel insights into the pathogenesis of infertility and endometrial disorders associated with hyperinsulinemia in PCOS.
Oligogenic basis of premature ovarian insufficiency: an observational study
Authors: Long Panpan , Wang Le , Tan Hangjing , Quan Ruping , Hu Zihao , Zeng Minghua , Deng Ziheng , Huang Hualin , Greenbaum Jonathan , Deng Hongwen , Xiao Hongmei 
Published: February 2024

Abstract
Background
The etiology of premature ovarian insufficiency, that is, the loss of ovarian activity before 40 years of age, is complex. Studies suggest that genetic factors are involved in 20–25% of cases. The aim of this study was to explore the oligogenic basis of premature ovarian insufficiency.

Results
Whole-exome sequencing of 93 patients with POI and whole-genome sequencing of 465 controls were performed. In the gene-burden analysis, multiple genetic variants, including those associated with DNA damage repair and meiosis, were more common in participants with premature ovarian insufficiency than in controls. The ORVAL-platform analysis confirmed the pathogenicity of the RAD52 and MSH6 combination.

Conclusions
The results of this study indicate that oligogenic inheritance is an important cause of premature ovarian insufficiency and provide insights into the biological mechanisms underlying premature ovarian insufficiency.
Risk factors and an early predictive model for Kawasaki disease shock syndrome in Chinese children
Authors: Zhang Mingming , Wang Congying , Li Qirui , Wang Hongmao , Li Xiaohui 
Published: February 2024

Abstract
Background
Kawasaki disease shock syndrome (KDSS), though rare, has increased risk for cardiovascular complications. Early diagnosis is crucial to improve the prognosis of KDSS patients. Our study aimed to identify risk factors and construct a predictive model for KDSS.

Methods
This case-control study was conducted from June, 2015 to July, 2023 in two children’s hospitals in China. Children initially diagnosed with KDSS and children with Kawasaki disease (KD) without shock were matched at a ratio of 1:4 by using the propensity score method. Laboratory results obtained prior to shock syndrome and treatment with intravenous immunoglobulin were recorded to predict the onset of KDSS. Univariable logistic regression and forward stepwise logistic regression were used to select significant and independent risk factors associated with KDSS.

Results
After matching by age and gender, 73 KDSS and 292 KD patients without shock formed the development dataset; 40 KDSS and 160 KD patients without shock formed the validation dataset. Interleukin-10 (IL-10) > reference value, platelet counts (PLT) < 260 × 109/L, C-reactive protein (CRP) > 80 mg/ml, procalcitonin (PCT) > 1ng/ml, and albumin (Alb) < 35 g/L were independent risk factors for KDSS. The nomogram model including the above five indicators had area under the curves (AUCs) of 0.91(95% CI: 0.87–0.94) and 0.90 (95% CI: 0.71–0.86) in the development and validation datasets, with a specificity and sensitivity of 80% and 86%, 66% and 77%, respectively. Calibration curves showed good predictive accuracy of the nomogram. Decision curve analyses revealed the predictive model has application value.

Conclusions
This study identified IL-10, PLT, CRP, PCT and Alb as risk factors for KDSS. The nomogram model can effectively predict the occurrence of KDSS in Chinese children. It will facilitate pediatricians in early diagnosis, which is essential to the prevention of cardiovascular complications.
Pedicle screw placement accuracy in robot-assisted versus image-guided freehand surgery of thoraco-lumbar spine (ROBARTHRODESE): study protocol for a single-centre randomized controlled trial
Authors: Aurouer Nicolas , Guerin Patrick , Cogniet Arnaud , Gangnet Nicolas , Pedram Morad , Piechaud Pierre-Thierry ,   ReSurg, Muller Jacobus H. , Saffarini Mo , Ramos-Pascual Sonia , Michalewska Kinga , Mangione Paolo 
Published: February 2024

Abstract
Background
Robotic spinal surgery may result in better pedicle screw placement accuracy, and reduction in radiation exposure and length of stay, compared to freehand surgery. The purpose of this randomized controlled trial (RCT) is to compare screw placement accuracy of robot-assisted surgery with integrated 3D computer-assisted navigation versus freehand surgery with 2D fluoroscopy for arthrodesis of the thoraco-lumbar spine.

Methods
This is a single-centre evaluator-blinded RCT with a 1:1 allocation ratio. Participants (n = 300) will be randomized into two groups, robot-assisted (Mazor X Stealth Edition) versus freehand, after stratification based on the planned number of pedicle screws needed for surgery. The primary outcome is the proportion of pedicle screws placed with grade A accuracy (Gertzbein-Robbins classification) on postoperative computed tomography images. The secondary outcomes are intervention time, operation room occupancy time, length of stay, estimated blood loss, surgeon’s radiation exposure, screw fracture/loosening, superior-level facet joint violation, complication rate, reoperation rate on the same level or one level above, functional and clinical outcomes (Oswestry Disability Index, pain, Hospital Anxiety and Depression Scale, sensory and motor status) and cost-utility analysis.

Discussion
This RCT will provide insight into whether robot-assisted surgery with the newest generation spinal robot yields better pedicle screw placement accuracy than freehand surgery. Potential benefits of robot-assisted surgery include lower complication and revision rates, shorter length of stay, lower radiation exposure and reduction of economic cost of the overall care.

Trial registration
ClinicalTrials.gov NCT05553028. Registered on September 23, 2022