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Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13. 一例不孕症和轻度智力障碍患者罕见的13号不稳定环染色体的细胞遗传学和分子特征。
IF 2.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-11-01 Epub Date: 2022-07-21 DOI: 10.1177/00369330221114426
Murat Kaya, Ilknur Suer, Tugba Kalayci, Birsen Karaman, Sukru Ozturk, Sukru Palanduz

Introduction: Ring chromosomes arise from breakage and fusion at distal regions of short and long arms of the chromosomes. The effect of the ring chromosome on the phenotype may vary widely depending on the amount of the deletion in the chromosomal areas and genes implicated in these regions.

Case presentation: We present a 35-year-old male patient with infertility and mild intellectual disability (MID) who has de novo ring 13 (r(13)) chromosomes. To determine chromosomal abnormality, we performed karyotype analysis, Y chromosome microdeletion analysis, FISH, and aCGH techniques.

Conclusion: The patient's karyotype analysis result was mos46,XY,r(13)(p13q34)[75]/45,XY,-13[14]/46,XY,dic (13;13)[8]/47,XY,r(13), + r(13)[2]/46,XY,tetrac r(13;13;13;13)[1]. FISH analysis supported the findings of the cytogenetic analysis. Y microdeletion analysis showed that the AZF region was intact. On aCGH analysis, we detected a 1.5 megabase deletion at the end of chromosome 13, including the CHAMP1 gene. The loss of the CHAMP1 gene, in particular, may explain our patient's MID, and the other deleted genes at 13q34 may explain our patient's infertility.

简介:环状染色体是由染色体短臂和长臂远端区域的断裂和融合而产生的。环形染色体对表型的影响可能会有很大的不同,这取决于染色体区域和这些区域涉及的基因的缺失量。病例介绍:我们报告了一位35岁男性患者,患有不孕症和轻度智力残疾(MID),他有新生环13 (r(13))染色体。为了确定染色体异常,我们进行了核型分析、Y染色体微缺失分析、FISH和aCGH技术。结论:患者核型分析结果为mos46、XY、r(13)(p13q34)[75]/45、XY、-13[14]/46、XY、dic(13;13)[8]/47、XY、r(13)、+ r(13)[2]/46、XY、tetrac r(13;13;13;13)[1]。FISH分析支持细胞遗传学分析的结果。Y微缺失分析显示AZF区域完好无损。在aCGH分析中,我们在13号染色体末端检测到1.5兆碱基缺失,包括CHAMP1基因。特别是CHAMP1基因的缺失可能解释了我们患者的MID, 13q34的其他缺失基因可能解释了我们患者的不孕症。
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引用次数: 0
Surgical procedure time and postoperative complications: Quality assurance of intraoperative events. 手术时间与术后并发症:术中事件的质量保证。
IF 2.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-08-01 DOI: 10.1177/00369330221112128
Ghulam Nabi
Welcome to September 2022 issue of Scottish Medical Journal. The issue highlights advancements in medical education and researcha basic ambitions of journal since its inception more than 100 years back. Hassan et al. bring in new knowledge on methods of teaching in neuroanatomy. Khatkar and colleagues discuss virtual reality simulation questionnaire survey and reminds us importance of snap-shot assessment. Domenic G et al. report relationship of body composition and BMI with colorectal cancer. In another common cancer in young men, Alifrangis et al. provide a glimpse of current practise perspective of testicular cancer (Seminoma). Clinicians are exposed to risk of radiation injuries and in particularly those working in orthopaedics surgery. Snowden et al. provide an assessment of knowledge amongst orthopaedic surgeons about radiation safety. Li et al. in a meta-analysis describe an interesting association of polycystic ovarian syndrome with various cancers. Finally, Yitgin et al. share their knowledge about optimal duration of surgical procedure for renal stones. They report a lower postoperative complications rate following retrograde intrarenal surgery in patients where procedural time is more than 60 min. There are several implications of these findings: First, it will improve delivery of information to urological surgeons so that careful planning is considered in reducing complications; second, it will help in better patient counselling and may be discuss alternate therapeutic approaches. Collins TC et al. in a previous study reported intraoperative blood transfusion, operative time, return to the operating room, and the number of complications as strong predictors of length of stay in hospital for patients following surgery. These events are inter-related and hence quality assurance of intra-operative events should be focus of quality assurance in the future. I trust the issue will be an enjoyable reading and generate discussion amongst colleagues and the future generations.
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引用次数: 0
A constructivist approach to teach neuroanatomy lab: Students’ perceptions of an active learning environment 建构主义的神经解剖学实验教学方法:学生对积极学习环境的认知
IF 2.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-06-12 DOI: 10.1177/00369330221107101
Sherif S. Hassan, Fauzia Nausheen, Frank Scali, Hina Mohsin, Charity Thomann
Background A recent trend in medical education is developing a more dynamic and integrated curriculum. Team-based learning (TBL) increases students’ engagement and the active construction of anatomical knowledge. This initial study aimed to empirically observe medical students’ perceptions of their achievement of learning outcomes and the construction of their neuroanatomy knowledge, critical thinking, and problem-solving using an interactive whiteboard (IWB) as a teaching strategy. Methods An independent neuroanatomy lab survey collected students’ perceptions and comments about their learning experiences using the IWB on a questionnaire using a 5-point Likert scale. Results Student participants felt that using the IWB has facilitated their learning experience. 94.2% of student participants endorsed feelings that new technology has helped them achieve their learning outcomes, helped them integrate both their basic science and clinical science/skills knowledge (90.4%), enhanced their problem-solving skills (92.3%), facilitated their interaction with the neuroanatomy faculty (96.2%) and increase their critical thinking (88.4%). Conclusion Collecting such empirical data about students’ perceptions and their learning environment should help neurosciences faculty in medical schools better outline their activities to faculty at other medical institutions. Applying these methods may enhance the learning process, save time during neuroanatomy lab, and it could also help overcome the shortage of qualified neuroanatomy educators.
医学教育最近的一个趋势是开发一个更有活力和更综合的课程。团队学习(TBL)提高了学生的参与度和解剖学知识的主动建构。本初步研究旨在实证观察医学生使用互动白板作为教学策略,对其学习成果的成就、神经解剖学知识的建构、批判性思维和问题解决的看法。方法通过独立的神经解剖学实验室调查,采用李克特5分制问卷,收集学生对IWB学习经验的看法和评价。结果学生认为使用IWB促进了他们的学习体验。94.2%的学生认为新技术帮助他们取得了学习成果,帮助他们整合了基础科学和临床科学/技能知识(90.4%),提高了他们解决问题的能力(92.3%),促进了他们与神经解剖学教师的互动(96.2%),提高了他们的批判性思维(88.4%)。结论收集这些关于学生认知和学习环境的实证数据,有助于医学院神经科学教师更好地向其他医疗机构的教师概述他们的活动。应用这些方法可以提高学习过程,节省神经解剖学实验的时间,也有助于克服合格的神经解剖学教育工作者短缺的问题。
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引用次数: 3
Polycystic ovary syndrome and the risk of endometrial, ovarian and breast cancer: An updated meta-analysis 多囊卵巢综合征与子宫内膜癌、卵巢癌和乳腺癌风险的最新荟萃分析
IF 2.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-06-09 DOI: 10.1177/00369330221107099
Zhen Li, Yuhua Wang, Linlin Wang, Dingtao Hu, Ying Teng, Tingyu Zhang, Ziye Yan, Fang Wang, Y. Zou
Background and Aims This updated meta-analysis aimed to further quantify the risk of endometrial, ovarian, and breast cancer in patients with polycystic ovary syndrome (PCOS), thus providing updated and more reliable estimates. Methods and Results We identified relevant articles by searching electronic databases of PubMed, Embase, Web of Science, and Chinese Biological Medical Literature (CBM) published up to March 20, 2021. The pooled effect estimates and their 95% confidence intervals (CIs) were calculated using the random-effect model or the fixed-effect model. A total of 26 eligible studies were included. We found that PCOS was significantly associated with endometrial cancer (odds ratios [OR]: 3.66, 95%CI: 2.05–6.54, P < 0.001), but not with ovarian or breast cancer (OR: 1.23, 95%CI: 0.99–1.53, P = 0.059; OR: 0.94, 95%CI: 0.78–1.14, P = 0.551, respectively). However, in subgroups of high-quality studies, cohort studies, younger women (54 years or less or premenopausal), and studies with unadjusted body mass index (BMI), PCOS patients had a significantly higher risk of ovarian cancer. Conclusion These results indicated that PCOS is a significant risk factor for endometrial cancer independent of BMI, but not for breast cancer. PCOS may increase the risk of ovarian cancer in younger women.
背景和目的这项更新的荟萃分析旨在进一步量化多囊卵巢综合征(PCOS)患者患子宫内膜癌、卵巢癌和乳腺癌的风险,从而提供更新的、更可靠的估计。方法和结果我们通过检索截至2021年3月20日发表的PubMed、Embase、Web of Science和中国生物医学文献(CBM)的电子数据库来识别相关文章。使用随机效应模型或固定效应模型计算合并效应估计值及其95%置信区间(CI)。共纳入26项符合条件的研究。我们发现PCOS与子宫内膜癌症显著相关(比值比[OR]:3.66,95%CI:2.05–6.54,P < 0.001),但与卵巢或乳腺癌症无关(or:1.23,95%CI:0.99–1.53,P = 0.059;或:0.94,95%置信区间:0.78–1.14,P = 分别为0.551)。然而,在高质量研究、队列研究、年轻女性(54岁或54岁以下或绝经前)和未调整体重指数(BMI)的研究的亚组中,PCOS患者患卵巢癌症的风险显著较高。结论PCOS是癌症的重要危险因素,与BMI无关,但与癌症无关。PCOS可能会增加年轻女性患卵巢癌症的风险。
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引用次数: 9
Assessing the attitude of surgical trainees towards virtual reality simulation: A national cross-sectional questionnaire study 评估外科培训生对虚拟现实模拟的态度:一项全国性横断面问卷研究
IF 2.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-05-30 DOI: 10.1177/00369330221103279
Harman Khatkar, Ashley Ferro, Sanjeev Kotecha, M. Prokopenko, A. Evans, J. Kyriakides, Jonathan Botterill, Miljyot Singh Sangha, Abbas See, Ryan Kerstein
Background We performed a cross sectional study to determine the attitudes of surgical trainees and medical students towards virtual reality (VR) simulation in surgical training. A survey was devised through an iterative process before distribution to surgical trainees, foundation year doctors and medical students through online platforms. Methods The survey was disseminated within the United Kingdom through social media and email correspondence, in co-operation with national surgical organisations. 91 trainees responded from a variety of clinical specialities. Results VR technology in surgical training was viewed positively, with 91.3% of trainees agreeing that VR should be both an adjunct in surgical training as well as a competency-based assessment tool. Barriers to access were present, with access notably more challenging for senior surgeons. Conclusion Virtual reality surgical simulation in surgical training is beginning to emerge as a genuine high-fidelity, low-risk solution to the lack of surgical case volume trainees are currently experiencing.
背景我们进行了一项横断面研究,以确定外科学员和医学生在外科培训中对虚拟现实(VR)模拟的态度。在通过在线平台分发给外科实习生、基础年医生和医学生之前,通过迭代过程设计了一项调查。方法与国家外科组织合作,通过社交媒体和电子邮件在英国境内传播该调查。91名学员来自不同的临床专业。结果手术培训中的虚拟现实技术得到了积极评价,91.3%的学员认为虚拟现实既是手术培训的辅助手段,也是基于能力的评估工具。准入存在障碍,尤其是对资深外科医生来说,准入更具挑战性。结论外科培训中的虚拟现实外科模拟正开始成为一种真正的高保真、低风险的解决方案,以解决受训人员目前缺乏外科病例的问题。
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引用次数: 1
Relationship between BMI, CT-derived body composition and colorectal neoplasia in a bowel screening population 肠道筛查人群中BMI、CT衍生的身体成分与结直肠肿瘤的关系
IF 2.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-05-22 DOI: 10.1177/00369330221102237
Domenic Di Rollo, J. McGovern, Christopher Morton, Gillian Miller, R. Dolan, P. Horgan, D. McMillan, D. Mansouri
Introduction Obesity is associated with an increased risk of colorectal cancer (CRC). Unlike the indirect measures such as BMI, CT-Body composition (CT-BC) allows for the assessment of both volume and distribution of adipose tissue. Therefore, the aim of this study was to examine the relationship between host characteristics, BMI, CT-BC measurements and the incidence of colorectal neoplasia. Methods Patients undergoing CT Colonography (CTC) as part of the Scottish Bowel Screening Programme, between July 2009 and February 2016, were eligible for inclusion. Data were collected including demographic data, clinicopathological variables and CT-BC measurements including skeletal muscle index (SMI), subcutaneous fat index (SFI) and visceral fat area (VFA). CTC, colonoscopy, and pathology reports were used to identify CRC incidence. Associations between demographic data, clinicopathological variables, CT-BC measurements, colorectal neoplasia and advanced colorectal neoplasia were analysed using univariate and multivariate binary logistics regression. Results 286 patients met the inclusion criteria. Neoplasia was detected in 105 (37%) of the patients with advanced neoplasia being detected in 72 (69%) of patients. On multivariate analysis sex (p < 0.05) and high VFA (p < 0.001) remained independently associated with colorectal neoplasia. On multivariate analysis a high SFI (p < 0.01) remained independently associated with advanced colorectal neoplasia. BMI was not associated with either colorectal neoplasia or advanced colorectal neoplasia. Conclusion When directly compared to BMI, CT derived fat measurements were more closely associated with the degree of neoplasia in patients undergoing colorectal cancer screening. In patients investigated with CT colonography, CT adipose measures may stratify the risk and grade of neoplasia.
肥胖与结直肠癌(CRC)风险增加有关。与BMI等间接测量方法不同,CT-Body composition (CT-BC)可以评估脂肪组织的体积和分布。因此,本研究的目的是研究宿主特征、BMI、CT-BC测量与结直肠癌发病率之间的关系。方法2009年7月至2016年2月期间接受CT结肠造影(CTC)作为苏格兰肠道筛查计划一部分的患者符合纳入条件。收集的数据包括人口统计学数据、临床病理变量和CT-BC测量,包括骨骼肌指数(SMI)、皮下脂肪指数(SFI)和内脏脂肪面积(VFA)。使用CTC、结肠镜检查和病理报告来确定CRC的发病率。使用单变量和多变量二元logistic回归分析人口统计学数据、临床病理变量、CT-BC测量、结直肠肿瘤和晚期结直肠肿瘤之间的关系。结果286例患者符合纳入标准。105例(37%)晚期肿瘤患者检出瘤变,72例(69%)晚期肿瘤患者检出瘤变。在多变量分析中,性别(p < 0.05)和高VFA (p < 0.001)仍然与结直肠肿瘤独立相关。在多变量分析中,高SFI (p < 0.01)仍然与晚期结直肠肿瘤独立相关。BMI与结直肠肿瘤或晚期结直肠肿瘤均无相关性。结论与BMI直接比较,CT脂肪测量与结直肠癌筛查患者的瘤变程度关系更密切。在接受CT结肠镜检查的患者中,CT脂肪测量可以对肿瘤的风险和级别进行分层。
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引用次数: 2
Radiation safety awareness and practices amongst orthopaedic surgeons in Scotland 苏格兰整形外科医生的辐射安全意识和实践
IF 2.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-05-09 DOI: 10.1177/00369330221099620
Gordon T Snowden, M. Jabbal, A. Akhtar
As orthopaedic surgeons we use x-rays every day; not only when diagnosing pathology but often to assist in operative management of said pathology or ensure satisfactory outcomes for our patients in clinic. An awareness of the correct use of ionising radiation in the form of fluoroscopic imaging is therefore of great importance to reduce intraoperative exposure and has led to the development of the As Little As Reasonably Achievable (ALARA) principle. The primary aim of this study is to determine the knowledge and practises of radiation safety amongst orthopaedic surgeons in Scotland. Secondary aim is to assess the prevalence of back pain and relation to lead gowns. A google forms survey containing 20 questions about both an individual's radiation practises, and knowledge and departmental practises were distributed to all 4 deaneries in Scotland. In total 72 responses were received from 20 hospitals across all 4 Scottish deaneries. This included 28 Consultants, 23 Senior trainees and 21 Junior trainees. We found that the level of radiation training and knowledge varied considerably across seniority and the nation. Of those surveyed 100% reported always wear lead aprons/gowns however only 46.2% (n = 34) frequently or always wear thyroid protection when using X-rays. Only 55% (n = 40) of those surveyed had completed a radiation safety course with this being far less likely amongst junior trainees (29%, n = 6) than amongst Consultants (82%, n = 23) and senior trainees (48%, n = 11) (p < 0.0001). To our knowledge this is the most extensive survey into the radiation practises of Orthopaedic Surgeons in the literature and shows the need for increased education and awareness of radiation safety practises, particularly amongst junior trainees.
作为整形外科医生,我们每天都使用x光片;不仅在诊断病理学时,而且通常是为了协助所述病理学的手术管理或确保我们的患者在临床上获得满意的结果。因此,正确使用荧光透视成像形式的电离辐射对减少术中暴露具有重要意义,并导致了合理实现尽可能少(ALARA)原则的发展。本研究的主要目的是确定苏格兰整形外科医生对辐射安全的认识和实践。次要目的是评估背痛的患病率以及与铅服的关系。一项谷歌表格调查包含了20个关于个人辐射实践、知识和部门实践的问题,该调查被分发给了苏格兰的所有4位院长。总共收到了来自苏格兰所有4个院长区的20家医院的72份回复。其中包括28名顾问、23名高级受训人员和21名初级受训人员。我们发现,辐射培训和知识的水平因资历和国家而异。在接受调查的人中,100%的人表示总是穿铅围裙/长袍,但只有46.2%(n = 34)在使用X射线时经常或总是佩戴甲状腺保护装置。只有55%(n = 40)接受调查的人已经完成了辐射安全课程,而在初级受训人员中,这一可能性要小得多(29%,n = 6) 在顾问中(82%,n = 23)和高级学员(48%,n = 11) (p < 0.0001)。据我们所知,这是文献中对骨科医生辐射实践最广泛的调查,表明需要加强辐射安全实践的教育和意识,特别是在初级受训人员中。
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引用次数: 2
Management of stage II seminoma: a contemporary UK perspective 第二阶段精原细胞瘤的治疗:当代英国的观点
IF 2.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-05-04 DOI: 10.1177/00369330221099619
C. Alifrangis, D. Nicol, J. Shamash, P. Rajan
Background and Aims Testicular Germ Cell Tumours (TGCTs) are the commonest young adult male cancer, with excellent survival outcomes even with metastatic disease. Chemotherapy, radiotherapy, and surgery are international guideline-dictated standard of care (SOC) treatments for International Germ Cell Cancer Collaborative Group (IGCCCG) “good risk” TGCT, but are associated with significant toxicities. Therapy de-escalation aims to reduce treatment morbidity whilst preserving cure rates, and has been adopted by some centres for stage IIA/B seminoma. Here, we report on the contemporary UK treatment landscape for stage IIA/B seminoma. Methods A questionnaire-based survey of NHS England-designated specialist cancer centres hosting supra-regional specialist multi-disciplinary team (sMDT) services (n = 13) as well those within NHS Scotland, NHS Wales and Health and Social Care Northern Ireland. Respondents were asked to order preferences of SOC and therapy de-escalation treatments for stage IIA/B seminoma. Results We identified significant geographical heterogeneity in treatment preferences. Whilst up to a third of centres have adopted a treatment de-escalation regimen, the majority deliver combination chemotherapy or radiotherapy. Conclusion A wider recognition of UK treatment heterogeneity and consideration of therapy de-escalation strategies at supra-regional sMDTs will increase stage IIA/B seminoma treatment options as part of clinical trials with oncological and quality of life endpoints.
背景和目的睾丸生殖细胞肿瘤(TGCT)是最常见的年轻成年男性癌症,即使有转移性疾病,也有良好的生存结果。化疗、放射治疗和手术是国际生殖细胞癌症合作小组(IGCCCG)“良好风险”TGCT的国际指导方针指定的护理标准(SOC)治疗,但与显著的毒性相关。降级治疗旨在降低治疗发病率,同时保持治愈率,并已被一些IIA/B期精原细胞瘤中心采用。在这里,我们报道了当代英国IIA/B期精原细胞瘤的治疗情况。方法对英国国家医疗服务体系(NHS)指定的癌症专科中心提供跨区域专家多学科团队(sMDT)服务(n = 13) 以及苏格兰国家医疗服务体系(NHS Scotland)、威尔士国家医疗服务系统(NHS Wales)和北爱尔兰卫生和社会护理机构(Health and Social Care Northern Ireland)内部的人员。受访者被要求对IIA/B期精原细胞瘤的SOC和治疗降级治疗进行排序。结果我们发现治疗偏好存在显著的地理异质性。虽然多达三分之一的中心采用了治疗降级方案,但大多数中心提供联合化疗或放疗。结论更广泛地认识到英国治疗的异质性,并考虑超区域sMDT的治疗降级策略,将增加IIA/B期精原细胞瘤治疗的选择,作为肿瘤学和生活质量终点临床试验的一部分。
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引用次数: 4
The Relationship Between Urinary Symptom Severity And Functional Status İn Patients With Stroke. 脑卒中患者泌尿系统症状严重程度与功能状态的关系İn。
IF 2.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-05-01 Epub Date: 2022-01-05 DOI: 10.1177/00369330211072247
Fatma Özcan, Zuhal Özişler

Background: Lower Urinary Tract Dysfunction (LUTD) is a condition that is common in stroke patients and affects their quality of life and psychological state.

Aim: To determine the factors affecting LUTD severity in stroke patients and to evaluate its relationship with functional status.

Method: 77 stroke patients were included in our study. Demographic and stroke characteristics of all patients were recorded. Functional Ambulation Scale (FAS), Functional Independence Measure (FIM), the Core Lower Urinary Tract Symptom Score (CLSS) Questionnaire, Beck Depression Scale were administered to the patient. 33 of 77 patients had urodynamic study and these patients constituted the subgroup of the study. Patients were grouped according to type of disorder, type of detrusor and detrusor sphincter dyssynergia (DSD) using urodynamic study findings.

Result: The mean CLSS of men was significantly higher than women (P = 0.017). A significant positive correlation was found between age and CLSS (P = 0.035 r = 0.24) and negative correlation was found between total FIM and all sub-parameter scores and mean of CLSS (P = 0.001 r = -0.467).

Conclusion: LUTD is common in stroke patients and the presence of urinary symptoms is associated with poor functional status. No significant relationship was observed between urodynamic data except maximum flow rate and CLSS.

背景:下尿路功能障碍(LUTD)是脑卒中患者的常见病,影响患者的生活质量和心理状态。目的:探讨影响脑卒中患者LUTD严重程度的因素及其与功能状态的关系。方法:选取77例脑卒中患者进行研究。记录所有患者的人口学特征和脑卒中特征。采用功能行走量表(FAS)、功能独立性量表(FIM)、核心下尿路症状评分问卷(CLSS)、贝克抑郁量表。77例患者中有33例进行了尿动力学研究,这些患者构成了研究的亚组。根据尿动力学研究结果,将患者按障碍类型、逼尿肌类型和逼尿肌括约肌协同障碍(DSD)进行分组。结果:男性的平均CLSS显著高于女性(P = 0.017)。年龄与CLSS呈显著正相关(P = 0.035 r = 0.24),总FIM与所有子参数得分和CLSS平均值呈负相关(P = 0.001 r = -0.467)。结论:LUTD在脑卒中患者中很常见,泌尿系统症状的出现与功能状态不佳有关。除最大流量与CLSS外,尿动力学数据之间无显著关系。
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引用次数: 3
Evaluating xanthochromia in the diagnosis of subarachnoid haemorrhage in Scotland in the Era of modern computed tomography. 在现代计算机断层扫描时代评价黄色症对苏格兰蛛网膜下腔出血的诊断价值。
IF 2.7 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2022-05-01 Epub Date: 2022-02-01 DOI: 10.1177/00369330211072264
Stephen Rankin, Jacqueline McGuire, Mohamed Chekroud, Likhith Alakandy, Babu Mukhopadhyay

Aim: Cerebrospinal fluid (CSF) analysis for xanthochromia is routinely used to exclude subarachnoid haemorrhage (SAH). In this study, we evaluated the sensitivity and specificity of xanthochromia (by NEQAS-spectrophotometry) in routine clinical practice in three acute hospitals, in patients with suspected SAH. We explored whether including CSF red cell count (RCC) with xanthochromia improved diagnostic accuracy.

Methods: In this retrospective analysis, all xanthochromia results were assessed over three consecutive years. Clinical information and Registry data were analysed to find all patients diagnosed with SAH. We correlated xanthochromia data with clinical and radiological findings.

Results: There were 1761 xanthochromia performed. Of these, 26 (1.5%) were positive, 1624 (92%) negative and 72 (4.1%) were inconclusive. Of the 26 tests that were positive, 9 (35%) had confirmed SAH, 17 (65%) were falsely positive, with no false negative tests in our series. Xanthochromia identified 6% of all SAH diagnosed in the study. Incorporating RCC <1000 with xanthochromia, reducing false positive tests by 38% and inconclusive test by 85%.

Conclusion: The positive yield of xanthochromia is low but identified 6% of SAH. NEQAS-spectrophotometry is an excellent diagnostic method with 100% sensitivity, 99% specificity. Incorporating RCC markedly reduces false positive and inconclusive tests reducing need for further imaging.

目的:脑脊液(CSF)分析是排除蛛网膜下腔出血(SAH)的常规方法。在本研究中,我们在三家急性医院的常规临床实践中,对疑似SAH患者的黄色症(通过neqas分光光度法)的敏感性和特异性进行了评估。我们探讨了CSF红细胞计数(RCC)与黄色症是否能提高诊断准确性。方法:在回顾性分析中,对所有黄色症结果进行连续三年的评估。分析临床信息和注册数据以发现所有诊断为SAH的患者。我们将黄色症数据与临床和放射学结果相关联。结果:检出黄色症1761例。其中阳性26例(1.5%),阴性1624例(92%),不确定72例(4.1%)。在26例阳性试验中,9例(35%)确诊为SAH, 17例(65%)为假阳性,在我们的研究中没有假阴性试验。黄色症在研究中诊断的所有SAH中占6%。结论:黄色症的阳性检出率较低,但可检出6%的SAH。neqas分光光度法具有100%的灵敏度,99%的特异度。合并RCC可显著减少假阳性和不确定的检查,减少进一步影像学检查的需要。
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引用次数: 1
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Scottish Medical Journal
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