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Personal and work-related factors that impact the decision to have the first and recurrent abortion among women in Serbia. 影响塞尔维亚妇女第一次和反复堕胎决定的个人和工作因素。
IF 1.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-31 Epub Date: 2025-11-16 DOI: 10.1080/19932820.2025.2575709
Tatjana Gazibara, Natasa Maksimovic, Jadranka Maksimovic, Lidija Tulic, Jovan Bila, Jelena Stojnic, Maja Miloradovic, Dragana Plavsa, Milos Radovic, Katarina Maksimovic, Jelena Dotlic

Despite the wide availability of contraception, the abortion rate in Serbia remains high. Being in a steady relationship and perceiving low risk to catch sexually transmitted infections have been identified as the most common reason to not use condom, while around 11% of females used oral contraceptive pill. The study aim was to investigate the reasons of Serbian women to seek induced abortion as well as the factors that might impact the decision to terminate pregnancy. A cross-sectional study was conducted at the Clinic for Ob/Gyn, University Clinical Centre of Serbia in Belgrade, which is a referral public tertiary health care institution. Women who underwent induced abortions from 2022 to 2024 filled in a questionnaire on socio-demographic characteristics, life-style and habits, medical history and motives for an induced abortion. Multivariate regression models were used to identify factors associated with each reported abortion motive. The study analyzed 433 women aged 16 to 49 years (mean 32.0 years). The most common motives for abortion were already having enough children (44.3%) and financial difficulties for child upbringing (42.0%). In contrast, gaining weight and concerns about physical changes due to pregnancy was the least endorsed reason for seeking an abortion. The majority of women (52.9%) reported multiple motives for abortion. Motives were generally the same for women who the first and recurrent abortion. Most common factors influencing the decision to terminate pregnancy were not being in a relationship or marriage and vigorous physical activity at workplace. One-half of women had multiple motives for abortion and more than 50% of women sought abortion multiple times. The most important factors associated with voluntary abortion seeking is not having a steady partner and working in a physically demanding job. These findings should be considered in the public health policy agenda.

尽管避孕措施广泛普及,但塞尔维亚的堕胎率仍然很高。不使用避孕套的最常见原因是处于稳定的关系中,并认为感染性传播疾病的风险较低,而约11%的女性使用口服避孕药。这项研究的目的是调查塞尔维亚妇女寻求人工流产的原因以及可能影响终止妊娠决定的因素。在贝尔格莱德塞尔维亚大学临床中心妇产科诊所进行了一项横断面研究,该诊所是一家转诊的三级公共卫生保健机构。2022年至2024年期间进行人工流产的妇女填写了一份关于社会人口特征、生活方式和习惯、病史和人工流产动机的调查问卷。多元回归模型用于确定与每个报告的堕胎动机相关的因素。该研究分析了433名年龄在16至49岁(平均32.0岁)的女性。堕胎最常见的原因是已经有足够的孩子(44.3%)和抚养孩子的经济困难(42.0%)。相比之下,体重增加和担心怀孕导致的身体变化是寻求堕胎的最不被认可的原因。大多数妇女(52.9%)报告有多种堕胎动机。第一次堕胎和反复堕胎的妇女的动机大致相同。影响终止妊娠决定的最常见因素是没有恋爱或结婚,以及在工作场所进行剧烈的体育锻炼。一半的妇女有多种堕胎动机,超过50%的妇女多次寻求堕胎。与自愿堕胎相关的最重要因素是没有稳定的伴侣和从事体力劳动。这些发现应列入公共卫生政策议程。
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引用次数: 0
Residents' contribution to teaching at a Tunisian faculty of medicine. 居民对突尼斯医学院教学的贡献。
IF 1.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-31 Epub Date: 2025-12-11 DOI: 10.1080/19932820.2025.2597563
Sana Rouis, Imed Chouchene, Meriem Gaddas, Walid Naija, Helmi Ben Saad, Latifa Lassoued

Formal training for residents-as-teachers is increasingly emphasized in many institutions worldwide. This study investigated 'residents-as-teachers' training, perceptions, and practices at the Faculty of Medicine of Sousse. An online survey was sent to the residents of FMSo (n = 1060). The three assessed areas in the survey were: training and teaching experience, teaching practices used, and attitudes and perceptions. Statistical analyses included descriptive statistics, two-proportion tests, and multivariate logistic regression. One hundred five residents responded (response rate: 9.9%). Although 68.6% reported teaching weekly (often 1-5 hours), and 33.3% found it enjoyable or rewarding, a notable feedback gap existed: 17.1% received no feedback from supervisors, and 15.2% none from learners. Preferred teaching methods included clinical case discussions (40.9%), role-playing (38.0%), brainstorming (37.1%), and workshops (35.2%). Multivariate analysis showed residency year was the only predictor of teaching contribution (OR = 3.72; p< 0.001). Despite limitations like the low response rate, the study concludes that residents value teaching but lack adequate feedback. It underscores the critical need to develop new and refine existing training programs for residents-as-teachers to improve the overall quality of medical education.

在世界各地的许多机构中,对住院医师的正式培训越来越受到重视。本研究调查了苏塞医学院“住院医生作为教师”的培训、观念和实践。对FMSo的居民进行在线调查(n = 1060)。调查中的三个评估领域是:培训和教学经验、使用的教学实践以及态度和看法。统计分析包括描述性统计、双比例检验和多元逻辑回归。105名居民回应(回复率:9.9%)。尽管68.6%的人表示每周都有教学(通常是1-5小时),33.3%的人觉得很享受或有回报,但存在明显的反馈差距:17.1%的人没有收到主管的反馈,15.2%的人没有收到学习者的反馈。首选的教学方法包括临床病例讨论(40.9%)、角色扮演(38.0%)、头脑风暴(37.1%)和研讨会(35.2%)。多因素分析显示,住院医师年数是教学贡献的唯一预测因子(OR = 3.72; p< 0.001)。尽管存在诸如低回复率等限制,但研究得出结论,居民重视教学,但缺乏足够的反馈。它强调了为住院医师教师制定新的和完善现有培训计划以提高医学教育整体质量的迫切需要。
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引用次数: 0
Carotid Doppler and IVC metrics for volume and mortality assessment in septic shock. 颈动脉多普勒和IVC指标对脓毒性休克的容量和死亡率评估。
IF 1.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-31 Epub Date: 2025-12-11 DOI: 10.1080/19932820.2025.2598519
Rukiye Kaymakçı, Volkan Arslan, Ahmet Aksan, Mehmet Ali Karaca

The utility of carotid artery Doppler flow velocity (CADFV) over mortality is not well known. This study investigated the utility of bedside ultrasound in assessing volume status and predicting mortality in patients with septic shock with CADFV, the inferior vena cava collapse index, and the central venous pressure (CVP). This prospective observational study included adults admitted to the ED with septic shock, defined by hypotension (SBP < 90 mmHg or MAP < 65 mmHg) and evidence of end-organ hypoperfusion. Patient demographics, CVP, CADFV, inferior vena cava (IVC) diameter, inferior vena cava collapsibility index (IVCCI), and outcomes were recorded. Measurements are compared in terms of mortality. The mean age was 67 years, with a 57% mortality rate. ROC analysis revealed that CADFV predicted mortality with a sensitivity of 72% and a specificity of 68% at a cutoff of 50 cm/s. The IVCCI had 93% sensitivity and 85% specificity at a cutoff of 54.5%. The CVP had 61% sensitivity and 71% specificity at a cutoff of 1.5 mm H₂O. The mean IVCCI was 59%, and the mean CVP was 2.4 mmH₂O. The mean IVCCI was 59%, and the mean CVP was 2.4 mmH₂O. The deceased patients had a mean IVCCI of 63% and a mean CVP of 1.62 mmH₂O, whereas discharged patients had a mean IVCCI of 55% and a mean CVP of 3.45 mmH₂O. CADFV, IVCCI, and CVP can be used in evaluating the volume status and predicting mortality in septic shock. These noninvasive measures provide alternatives to invasive methods and facilitate timely intervention in emergency care.

颈动脉多普勒血流速度(CADFV)对死亡率的影响尚不清楚。本研究探讨了床边超声在脓毒性休克合并CADFV患者的容量状态评估和死亡率预测、下腔静脉塌陷指数和中心静脉压(CVP)中的应用。这项前瞻性观察性研究纳入了以低血压(SBP)定义的感染性休克入住ED的成年人
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引用次数: 0
Three-dimensional evaluation of root canal morphology in mandibular premolars of Saudi individuals: a CBCT study. 沙特人下颌前磨牙根管形态的三维评价:CBCT研究。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-01 Epub Date: 2025-02-08 DOI: 10.1080/19932820.2025.2464292
Loai Alsofi, Mey Al-Habib, Shatha Zahran, Mona Alsulaiman, Mohammed Barayan, Sara Khawaji, Mohammed Sanari, Mohammad Altorkestani, Layan Alshehri, Lamees Zarei, Ammar Almarghlani, Mohammed Howait

In-depth knowledge of the anatomical structure of the root canal system is fundamental for successful endodontic treatment. This research aimed to evaluate the root canal structures of lower premolars in the Saudi western demographic via Cone Beam Computed Tomography (CBCT) scans. 760 CBCT scans were reviewed, which incorporated 2747 mandibular premolar teeth. SPSS was employed for descriptive statistics and Pearson chi-square tests. The Kappa tests were executed for intra- and inter-observer consistency. The number of roots, canals, and canal configurations based on Vertucci's classification were assessed. The study further explored the prevalence, patterns, and variations of the root canal systems, considering gender-based variations and bilateral resemblance. Predominantly, mandibular premolars possessed a single root, though a minority displayed two or three roots. The occurrence of multiple canals was also on the lower side, with the type I canal pattern emerging predominantly. Gender-based distinctions were evident, as males exhibited a higher frequency of two-rooted premolars and multiple canals than females. It was noted that the anatomical differences were more in the mandibular first premolars than in the second premolars. A significant bilateral consistency was observed, with most teeth showcasing consistent root and canal numbers. This research offers essential perspectives on the diverse nature and variability of root canal anatomy within the Saudi Western cohort, facilitating better understanding and treatment planning in endodontics.

深入了解根管系统的解剖结构是根管治疗成功的基础。本研究旨在通过锥形束计算机断层扫描(CBCT)评估沙特西部人口的下前磨牙根管结构。回顾了760个CBCT扫描,其中包括2747个下颌前磨牙。采用SPSS进行描述性统计和Pearson卡方检验。卡帕测试执行内部和内部观察者的一致性。根据Vertucci分类对根数、根管数量和根管形态进行评估。该研究进一步探讨了根管系统的患病率、模式和变化,考虑了基于性别的差异和双边相似性。多数情况下,下颌前磨牙有一个根,虽然少数有两个或三个根。下侧多根管出现,以I型管型为主。性别差异明显,男性出现双根前磨牙和多根管的频率高于女性。结果表明,下颌第一前磨牙的解剖差异大于第二前磨牙。观察到显著的双侧一致性,大多数牙齿显示一致的根和管数。本研究为沙特西方人群根管解剖学的多样性和可变性提供了重要的视角,促进了对牙髓学的更好理解和治疗计划。
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引用次数: 0
The effect of rebound exercise on cognition and balance of females with overweight and obesity. 反弹运动对超重和肥胖女性认知和平衡的影响。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-01 Epub Date: 2024-12-06 DOI: 10.1080/19932820.2024.2438513
Chidiebele Petronilla Ojukwu, Izuchukwu Simeon Nnyaba, Stephen Sunday Ede, Adaora Justina Okemuo, Judith Amaka Enebe

Balance issues have been reported to be common among females with overweight or obesity with associated fall risks. Despite the increasing reports of the negative impacts of obesity on balance and cognition, there is a scarcity of research aimed at evaluating effective interventions. To examine the effects of rebound exercises on cognition and balance among females with overweight and obesity. This Quasi-experimental study used the purposive sampling method to recruit 20 female students (aged 17-35 years) with overweight and obese at the Evangel University Akaeze, Ebonyi State Nigeria. Rebound exercise intervention was administered to all participants at the gym for 30 minutes in each session, three times a week for six weeks, while their cognitive performances, stationary balance, and dynamic balance were measured pre-and post-trial using Trail Marking Test Apparatuses, Unilateral Pedal Tests, and Meter Backward Walk Test respectively. There was a significant (p < 0.001) difference in the participants' cognition values across weeks 1, 3, and 6 with a progressive improvement over time. There was also a significant (p < 0.05) difference in the participants' static and dynamic balance values across weeks 1, 3, and 6 with a progressive improvement in balance performance over time. Rebound exercise significantly improved the cognition and balance of females with overweight or obese. This finding suggests a promising intervention to improve balance and cognitive-related problems in this population. Registered retrospectively in the Pan African Clinical Trial Registry, identification number for the registry is PACTR202405746557031. Dated 2 May 2024.

据报道,平衡问题在超重或肥胖的女性中很常见,并伴有跌倒风险。尽管关于肥胖对平衡和认知的负面影响的报道越来越多,但针对评估有效干预措施的研究却很少。探讨反弹运动对超重和肥胖女性认知和平衡的影响。本准实验研究采用目的抽样的方法,在尼日利亚埃邦伊州阿卡泽的福音大学招募了20名超重和肥胖的女学生(17-35岁)。所有参与者在健身房进行每期30分钟的反弹运动干预,每周3次,持续6周,同时分别使用Trail Marking Test apparatus、单边踏板测试和Meter Backward Walk Test测量他们的认知表现、静止平衡和动态平衡。有显著的p
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引用次数: 0
Physicians' attitudes towards step-down asthma treatment in Turkey: a nationwide perspective. 土耳其医生对逐步减少哮喘治疗的态度:全国视角。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-01 Epub Date: 2025-05-04 DOI: 10.1080/19932820.2025.2500192
Müge Erbay, Olcay Ayçiçek, Deha Çebi Öztürk

The cornerstone of asthma management is the stepwise approach recommended by both national and international guidelines. In this study, we aim to investigate physicians' attitudes and approaches towards step-down treatment in asthma management in Turkey. In this cross-sectional study, questionnaire-based data were gathered from pulmonologists, immunology and allergy specialists and immunology and allergy fellows in November-December 2024. Of the 225 physicians, the median years of service in their speciality was 5 (min1-max51) years. Nearly 35% of survey participants rarely step down asthma medication (12.9% and 52.4% of participants always and frequently, respectively). The two most selected barriers were 'I am afraid the patient will get worse' (50.9%) and 'patients don't want to' (29.9%). Participants whose primary concern regarding step-down asthma treatment was fear of patient deterioration were found to use step-down approaches less frequently (66.7%, p < 0.001). Working in educational and research hospitals, the fear that the patient may worsen, and infrequent adherence to guideline updates were significantly associated with the rare implementation of step-down treatment in asthma management. Our study identified that the fear of potential disease worsening and infrequent adherence to updated guidelines were significantly associated with the limited implementation of step-down treatment in asthma management.

哮喘管理的基石是国家和国际指南所推荐的逐步方法。在这项研究中,我们的目的是调查医生的态度和方法降压治疗在土耳其哮喘管理。在这项横断面研究中,研究人员在2024年11月至12月期间从肺科医生、免疫学和过敏专家以及免疫学和过敏研究员那里收集了基于问卷的数据。在225名医生中,他们专业的服务年数中位数为5年(最小-最大51年)。近35%的调查参与者很少停药(12.9%的参与者总是停药,52.4%的参与者经常停药)。选择最多的两个障碍是“我担心病人病情恶化”(50.9%)和“病人不想”(29.9%)。对逐步降压哮喘治疗的主要担忧是担心患者病情恶化的参与者使用逐步降压方法的频率较低(66.7%,p
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引用次数: 0
Investigating the predictive role of serum amyloid A and its association with immunological and coagulation biomarkers in recurrent pregnancy loss. 研究血清淀粉样蛋白A的预测作用及其与免疫和凝血生物标志物在复发性妊娠丢失中的关联。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-01 Epub Date: 2025-03-01 DOI: 10.1080/19932820.2025.2472492
Mahmoud Thabet, Kawkab Ali Hasan, Ismail A Elhefnawy, Ghada Barakat, Dalia Moemen, Ahmed Ragab, Dalia Mahmoud Abdelmonem Elsherbini, Mohamed El-Sherbiny, Nagwan Ahmed Bahgat, Maged Ragheb Elshamy, Rayan G Albarakati, Baisakhi Kar, Sara Izzeldin Hassan, Spogmai Arif, Saima Reshi, Abida Ikram, Rebecamma Ommen, Nayla Jamal Bushaqer, Mahmoud Mohamed Abdel-Razik, Waleed Eldars

To evaluate the predictive role of serum amyloid A (SAA) levels and their association with antiphospholipid antibodies (APA) and coagulation markers such as lupus anticoagulants (LA), anti-cardiolipin (ACA), protein C (PC) deficiency, protein S (PS) deficiency, and antithrombin III (ATIII) deficiency in recurrent pregnancy loss (RPL). This prospective case-control study comprised two groups: the study group (n = 88) included women with recurrent pregnancy loss at Mansoura University Hospital between January 2019 and December 2020, and the control group (n = 52) included women without obstetric or medical complications. Demographic, clinical, and laboratory data, including serum samples collected at 10 weeks of gestation, were collected from all participants. The study measured SAA levels, lupus anticoagulants, anti-cardiolipin, protein C, protein S, and antithrombin III levels. The SAA level was significantly elevated in the recurrent pregnancy loss group compared to that in the control group. Lupus anticoagulant positive, anti-cardiolipin positive Immunoglobulin M (IgM), and deficiencies in protein C, protein S, and antithrombin III were significantly observed in patients with RPL (p < 0.05). The SAA levels were significantly elevated in both LA-positive and ACA-positive IgM patients. The receiver operating characteristic (ROC) curve analysis demonstrated that at SAA > 24.8 for the prediction of recurrent pregnancy loss, sensitivity was 98.86%, and specificity was 92.31%. Positive and negative predictive values were 95.6% and 98.0%, respectively. The area under the curve = 0.971 (0.927-0.992). SAA is associated with recurrent pregnancy loss and may therefore serve as a potential predictor of this condition. The observed elevation in SAA levels could be primary or secondary to the inflammatory response that promotes thrombotic activity in RPL patients at risk of APA, Protein S, Protein C, and ATIII deficiencies. Implementing SAA screening during pregnancy may facilitate the identification of individuals who could potentially benefit from novel treatment strategies.

评估血清淀粉样蛋白A (SAA)水平及其与抗磷脂抗体(APA)和狼疮抗凝剂(LA)、抗心磷脂(ACA)、蛋白C (PC)缺乏、蛋白S (PS)缺乏、抗凝血酶III (ATIII)缺乏等凝血标志物在复发性妊娠丢失(RPL)中的预测作用。这项前瞻性病例对照研究包括两组:研究组(n = 88)包括2019年1月至2020年12月在曼苏拉大学医院复发性流产的妇女,对照组(n = 52)包括没有产科或医学并发症的妇女。收集所有参与者的人口学、临床和实验室数据,包括妊娠10周时收集的血清样本。该研究测量了SAA水平、狼疮抗凝剂、抗心磷脂、蛋白C、蛋白S和抗凝血酶III水平。反复流产组SAA水平明显高于对照组。狼疮抗凝血剂阳性、抗心磷脂免疫球蛋白M (IgM)阳性、蛋白C、蛋白S、抗凝血酶III缺乏在RPL患者中显著存在(p = 24.8),预测复发性流产的敏感性为98.86%,特异性为92.31%。阳性预测值为95.6%,阴性预测值为98.0%。曲线下面积= 0.971(0.927 ~ 0.992)。SAA与复发性流产有关,因此可能是这种情况的潜在预测因子。观察到的SAA水平升高可能是原发或继发于炎症反应,在有APA、蛋白S、蛋白C和ATIII缺乏风险的RPL患者中,炎症反应促进了血栓活动。在怀孕期间实施SAA筛查可能有助于识别可能从新的治疗策略中获益的个体。
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引用次数: 0
Predictors of brain death and barriers to organ donation in north African intensive care units: a multicenter prospective study on severe coma patients. 北非重症监护病房脑死亡和器官捐献障碍的预测因素:一项针对严重昏迷患者的多中心前瞻性研究
IF 1.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-01 Epub Date: 2025-08-12 DOI: 10.1080/19932820.2025.2545049
Imen Slama, Imed Chouchene, Rim Ghammam, Laurent Durin, Walid Naija, Jalel Ziadi, Helmi Ben Saad

Organ donation from brain-dead patients is a major advancement in transplantation medicine. However, challenges remain in identifying and managing potential donors. In Tunisia, low donation rates reflect both medical limitations and significant sociocultural barriers, with limited national data addressing these factors. This study aimed to describe the epidemiological, clinical, and paraclinical profiles of patients with severe coma in Tunisian intensive care units (ICUs), and to identify factors associated with progression to brain death (BD) and subsequent organ donation outcomes. A pilot prospective multicenter study was conducted over one year (November 2022 - October 2023) in three Tunisian university hospitals: Sahloul and Farhat Hached (Sousse), and Mohamed Taher Maamouri (Nabeul). All ICU patients with severe coma (i.e.; Glasgow coma scale≤8) requiring invasive mechanical ventilation were included. Patients were followed until BD confirmation or ICU discharge. The transplant coordination team approached families of confirmed BD patients for donation consent. Among 104 patients (mean age: 47years; 76% male), 26 (25%) progressed to BD, mainly due to haemorrhagic stroke (57.7%) and traumatic brain injury (30.8%). BD was significantly associated with male sex (odds ratio (OR)=2.63; p=0.047), comorbidities such as arterial hypertension and/or diabetes mellitus (OR=2.63; p=0.041), traumatic causes (5.76; p<0.001), haemorrhagic stroke (OR=13.83; p<0.001), and prolonged ICU stay defined as a stay exceeding 14days (OR=12.54; p=0.014). Of the 17 confirmed BD cases, families of 12 were approached, with consent obtained in five (41.6%). Refusals (58.3%) were mainly due to concerns about body integrity, religious beliefs, and family influence. Improved donor management, family communication, and public awareness are crucial to increasing donation rates. Registration. This study protocol was registered on ClinicalTrials.gov (Identifier: NCT06948669).

脑死亡患者的器官捐献是移植医学的一大进步。然而,在确定和管理潜在捐助者方面仍然存在挑战。在突尼斯,捐献率低反映了医疗限制和重大的社会文化障碍,而处理这些因素的国家数据有限。本研究旨在描述突尼斯重症监护病房(icu)严重昏迷患者的流行病学、临床和临床外概况,并确定与脑死亡(BD)进展和随后的器官捐赠结果相关的因素。一项为期一年(2022年11月至2023年10月)的前瞻性多中心试点研究在突尼斯三所大学医院进行:Sahloul和Farhat Hached(苏塞)以及Mohamed Taher Maamouri(纳布尔)。所有ICU重症昏迷患者(即;格拉斯哥昏迷评分≤8),需要有创机械通气。随访患者直至BD确诊或ICU出院。移植协调小组与确诊BD患者的家属取得捐赠同意。104例患者(平均年龄47岁;76%男性),26例(25%)进展为BD,主要是由于出血性卒中(57.7%)和外伤性脑损伤(30.8%)。BD与男性显著相关(优势比(OR)=2.63;p=0.047),合并症如动脉高血压和/或糖尿病(or =2.63;P =0.041),创伤原因(5.76;购买力平价= 0.014)。在17例确诊的BD病例中,我们联系了12例患者的家属,其中5例(41.6%)获得了同意。拒绝(58.3%)主要是由于担心身体完整性、宗教信仰和家庭影响。改善捐赠者管理、家庭沟通和公众意识对提高捐赠率至关重要。登记。该研究方案已在ClinicalTrials.gov注册(标识符:NCT06948669)。
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引用次数: 0
Ethical and legal dilemmas of civil disobedience: physicians' decisions under occupation. 公民不服从的伦理和法律困境:占领下医生的决定。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-01 Epub Date: 2025-04-09 DOI: 10.1080/19932820.2025.2481740
Meriem Gaddas, Helmi Ben Saad
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引用次数: 0
Genetic variants in QRICH2 gene among Jordanians with sperm motility disorders. 约旦精子运动障碍患者QRICH2基因的遗传变异
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-12-01 Epub Date: 2025-03-19 DOI: 10.1080/19932820.2025.2481741
Haneen M Alhnaity, Ala'a S Shraim, Berjas Abumsimir, Dima Hattab, Asma M Ghazzy, May Abdelhalim, Bayan A Abdel Majeed, Enas Daoud, Yazun Jarrar

Sperm motility, a key determinant of male fertility, is often impaired by genetic variations affecting flagellar formation. The glutamine-rich protein 2 (QRICH2) gene encodes a protein essential for sperm flagella biogenesis and structural integrity. This study investigates genetic variations within exon 3 of the QRICH2 gene, identifying novel heterozygous variants associated with sperm tail-specific abnormalities and motility impairments. Among 34 individuals diagnosed with asthenozoospermia (ASZ) and 26 individuals with normal sperm parameters (NZ) from Jordan, eight unique heterozygous variants (c.123 G>T, c.133 G>C, c.138A>G, c.170A>C, c.189C>G, c.190T>C, c.195A>T, and c.204A>T) were exclusive to the ASZ group, while four variants (c.136 G>A, c.145A>C, c.179T>G, and c.180T>G) were found only in NZ. These variants were absent from major genetic databases, suggesting their potential novelty, while two variants (c.206C>T and c.189C>T) were linked to known SNP cluster IDs rs73996306 and rs1567790525, respectively. Four non-synonymous SNPs (c.136 G>A, c.145A>C, c.170A>C, and c.204A>T) were predicted to be functionally and structurally damaging, underscoring their significance. Additionally, five variants overlapped with previously reported mutation sites, indicating potential mutation hotspots. Statistical analysis revealed a significant association between QRICH2 mutations and tail defects (p < 0.021). These findings highlight the critical role of heterozygous QRICH2 mutations in mild-to-moderate ASZ, even in NZ individuals. Despite some carriers meeting WHO criteria for NZ, notable morphological abnormalities suggest the need for refined diagnostic benchmarks. Screening for QRICH2 mutations is essential for accurate molecular diagnosis and should be integrated into genetic counseling, particularly in regions like Jordan. Further research into the cumulative effects of heterozygous mutations and their environmental interactions is needed to expand our understanding of idiopathic male infertility and to enhance diagnostic and therapeutic strategies for male infertility.

精子活力是男性生育能力的一个关键决定因素,它经常受到影响鞭毛形成的遗传变异的损害。富谷氨酰胺蛋白2 (QRICH2)基因编码一种对精子鞭毛生物发生和结构完整性至关重要的蛋白质。本研究研究了QRICH2基因外显子3内的遗传变异,发现了与精子尾部特异性异常和运动障碍相关的新型杂合变异。在34例约旦无精子症(ASZ)患者和26例精子参数正常(NZ)患者中,8个独特的杂合变异(C .123 G>T、C .133 G>C、C . 138a >G、C . 170a >C、C . 189c >G、C . 190t >C、C . 195a >T和C . 204a >T)为ASZ组所独有,而4个变异(C . 136g >A、C . 145a >C、C . 179t >G和C . 180t >G)仅在新西兰发现。这些变异在主要的遗传数据库中不存在,这表明它们可能是新颖性的,而两个变异(c.206C>T和c.189C>T)分别与已知的SNP簇id rs73996306和rs1567790525相关。四个非同义snp (C .136 G>A, C . 145a >C, C . 170a >C和C . 204a >T)被预测在功能和结构上具有破坏性,强调了它们的重要性。此外,五个变异与先前报道的突变位点重叠,表明潜在的突变热点。统计分析显示,在轻度至中度ASZ中,甚至在新西兰个体中,QRICH2突变与尾部缺陷(p QRICH2突变)之间存在显著关联。尽管一些携带者符合世卫组织的新西兰标准,但明显的形态学异常表明需要改进诊断基准。筛查QRICH2突变对于准确的分子诊断至关重要,应纳入遗传咨询,特别是在约旦等地区。需要进一步研究杂合突变的累积效应及其环境相互作用,以扩大我们对特发性男性不育症的理解,并提高男性不育症的诊断和治疗策略。
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Libyan Journal of Medicine
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