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Progressive trends in prenatal genetic screening 产前遗传筛查的发展趋势
Pub Date : 2022-08-21 DOI: 10.53986/ibjm.2022.0032
Kirolos Eskandar
According to the global report on birth defects in 2021, it is estimated that 8 million children are born with birth defects of genetic origin annually. These birth defects vary in their degree of severity; where some types are mild and do not require treatment but others may necessitate lifelong medications or even cause instant death just after birth. That is why prenatal screening is doubtless necessary to detect such genetic defects before birth aiming to drop the tragedy of these children off. Recently, this approach has been developing towards non-invasive techniques that reduce the risk of miscarriage, which was common in the old-fashioned invasive ones. Non-invasive Prenatal Tests (NIPTs) like Chromosomal Microarray Analysis (CMA) and cell-free fetal DNA (cffDNA) caused a breakthrough in the screening methods of chromosomal aneuploidies. Thanks to their benefits, NIPTs are considered a fundamental clinical approach for pregnant women’ screening in multiple countries. Thence, this paper gives prominence to the recentness of NIPTs along with each’s assets, liabilities, and prospective recommendations. In addition, it would demonstrate the importance of modern molecular technologies like next-generation sequencing (NGS) which are enforced for the appliance of NIPTs.
根据《2021年全球出生缺陷报告》,估计每年有800万儿童出生时患有遗传缺陷。这些先天缺陷的严重程度各不相同;有些类型是轻微的,不需要治疗,但其他类型可能需要终身药物治疗,甚至在出生后立即死亡。这就是为什么产前筛查毫无疑问是必要的,以便在出生前发现这些遗传缺陷,旨在减少这些孩子的悲剧。最近,这种方法已经向非侵入性技术发展,以减少流产的风险,这在老式的侵入性技术中很常见。染色体微阵列分析(CMA)和无细胞胎儿DNA (cffDNA)等无创产前检测(nipt)在染色体非整倍体筛查方法上取得了突破。由于其益处,nipt在许多国家被认为是孕妇筛查的基本临床方法。因此,本文突出了nipt的近代性以及每个nipt的资产、负债和前瞻性建议。此外,它将证明现代分子技术的重要性,如下一代测序(NGS),这些技术是为应用nipt而强制执行的。
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引用次数: 0
The Clinical Efficacy of Manual Irrigation for the Prevention of Postoperative Bleeding of Transurethral Prostate Resection 手工冲洗预防经尿道前列腺切除术后出血的临床疗效观察
Pub Date : 2022-08-08 DOI: 10.53986/ibjm.2022.0031
R. Girgin, N. Mungan
Introduction: Postoperative blood loss after prostate surgery is thought to be associated with an increase in urinary fibrinolytic activity. We investigated the effects of the local dilution of fibrinolytic agents with manual irrigation on postoperative bleeding after the transurethral resection of the prostate (TUR-P). Materials and methods: Between April 2017 and April 2021, 128 patients were prospectively randomised into two equal groups. Monopolar TUR-P was applied to all patients for benign prostatic hyperplasia, but post procedure manual irrigation was used in group 2 only. Haemoglobin levels were evaluated before and after TUR-P. Intra-op and post operative bleeding, amount of saline used for irrigation, duration of catheterisation and length of hospital stay were noted. The patients were followed up 1 month after the TUR-P. Results: The resected adenoma weight was 12.64 g in group 1 and 13.11 g in group 2. There was no difference between groups 1 and 2 in terms of haemoglobin loss and total blood loss within the first 24 h after TUR-P, which were 0.82 g and 0.95 g (P = 0.443) and 90.45 mL and 67.80 mL (P = 0.102), respectively. There was also no significant difference between the groups in the saline volume used for irrigation (19 vs. 17.3 L), catheter duration and hospital stay (2.6 vs. 2.6 days). Conclusions: We could not show the positive effects of manual irrigation on bleeding complications after TUR-P, though it is a simple and safe-seeming procedure with no specific operative technique.
简介:前列腺手术后失血被认为与尿纤溶活性增加有关。我们研究了手工冲洗局部稀释纤溶药物对经尿道前列腺切除术(turp)术后出血的影响。材料和方法:2017年4月至2021年4月期间,128名患者前瞻性随机分为两组。所有良性前列腺增生患者均行单极turp冲洗,仅第二组患者行术后手工冲洗。在turp前后评估血红蛋白水平。记录了术中和术后出血、用于冲洗的生理盐水量、置管时间和住院时间。术后1个月随访。结果:1组切除腺瘤重12.64 g, 2组切除腺瘤重13.11 g。1组和2组在turp后24 h内的血红蛋白损失和总失血量分别为0.82 g和0.95 g (P = 0.443)和90.45 mL和67.80 mL (P = 0.102),差异无统计学意义。两组间用于冲洗的生理盐水体积(19对17.3 L)、导管持续时间和住院时间(2.6对2.6天)也无显著差异。结论:虽然手工冲洗术是一种简单、安全的手术,无需特殊的手术技术,但我们无法证明手工冲洗术对turp术后出血并发症的积极作用。
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引用次数: 0
Factors Affecting Urinary Incontinence-related Quality of Life in Geriatric Patients: An observational Cross-Sectional Study in a Tertiary Hospital Urology Clinic in Turkey 影响老年患者尿失禁相关生活质量的因素:土耳其一家三级医院泌尿外科诊所的观察性横断面研究
Pub Date : 2022-08-05 DOI: 10.53986/ibjm.2022.0030
R. Girgin, E. D. Demirkıran
Introduction: Geriatric syndromes are associated with morbidity and poor quality of life (QOL). Urinary incontinence (UI) is one of the most prevalent geriatric syndromes. However, there is little research on the association of UI and UI-related QOL with other geriatric syndromes. The aim of this exploratory study were to examine the effect and coexistence of geriatric syndromes, admission type and surgical severity on UI-related QoL in patients hospitalized in the urology clinic. Materials and methods: This study was conducted among 250 older inpatients (aged 65 years and older between October 2019 and March 2020) at Zonguldak Bulent Ecevit University department of Urology, Zonguldak, Turkey. After ethical approval and patient consent, we examined geriatric syndromes and related factors including cognitive impairment, delirium, depression, decreased mobility, multiple drug use, malnutrition, pain and fecal incontinence as well as hospitalization patterns and surgical severity of the patients. UI-related QOL was assessed using the International Consultation on Incontinence Questionnaire-Short Form. Multiple logistic regression analysis was used to evaluate these associations. Results: Geriatric syndromes and related factors were associated with UI. Moderate cognitive decline (odds ratio [OR], 3.764; 95% confidence interval [CI], 1.621- 8.742), Charlson Comorbidity Index (CCI) (odds ratio [OR], 1.56; 95% confidence interval [CI], 1.24–5.05) and the number of medication used (odds ratio [OR], 1,33; 95% confidence interval [CI], 1.11–1.58) were associated with increased probability of having UI. Cognitive impairment, length of hospital stay had an inverse and age of patients had a direct effect on patients UI-related QoL. Conclusions: UI-related quality of life was associated with some factors. Especially in the urology clinic, evaluating the cognitive functions of elderly patients, reviewing the drugs they use and minimizing the length of stay in this patient group will contribute significantly to their quality of life.
老年综合征与发病率和生活质量差(QOL)相关。尿失禁(UI)是最常见的老年综合征之一。然而,关于UI和UI相关生活质量与其他老年综合征的关系的研究很少。本探索性研究的目的是探讨老年综合征、入院类型和手术严重程度对泌尿外科门诊住院患者尿路相关生活质量的影响和共存。材料与方法:本研究在土耳其宗古尔达克Bulent Ecevit大学泌尿外科的250名老年住院患者(2019年10月至2020年3月期间年龄在65岁及以上)中进行。在伦理批准和患者同意后,我们检查了老年综合征和相关因素,包括认知障碍、谵妄、抑郁、活动能力下降、多种药物使用、营养不良、疼痛和大便失禁,以及患者的住院模式和手术严重程度。尿失禁相关的生活质量采用国际失禁咨询问卷-短表进行评估。多元逻辑回归分析用于评估这些关联。结果:老年综合征及相关因素与尿失禁相关。中度认知能力下降(优势比[OR], 3.764;95%可信区间[CI], 1.621- 8.742), Charlson共病指数(CCI)(优势比[OR], 1.56;95%可信区间[CI], 1.24-5.05)和用药数量(优势比[OR], 1,33;95%可信区间[CI], 1.11-1.58)与患UI的概率增加相关。认知障碍、住院时间与患者ui相关生活质量成反比,患者年龄对患者ui相关生活质量有直接影响。结论:尿路相关的生活质量与一些因素有关。特别是在泌尿外科临床,评估老年患者的认知功能,回顾他们使用的药物,尽量减少住院时间,对他们的生活质量有很大的帮助。
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引用次数: 0
Anaplastic large cell lymphoma of breast masquerading suppurative mastitis on cytology 乳腺假性化脓性乳腺炎间变性大细胞淋巴瘤的细胞学研究
Pub Date : 2022-08-02 DOI: 10.53986/ibjm.2022.0029
Sailuja Maharjan, B. Satyal, Reena Baidya, P. Neupane
Breast is an uncommon site of extra nodal lymphoma accounting for 2.2% of all extra nodal lymphomas. B cell lymphomas are more common than T cell types. The most common subtype is Diffuse Large B Cell Lymphoma. Breast lymphoma is very challenging to diagnose as it has nonspecific clinical and radiological features. We report a rare case of primary T cell lymphoma in a 20-year-old female. It was misdiagnosed as abscess on ultrasound and as suppurative mastitis on fine needle aspiration cytology (FNAC). However, excisional biopsy was suggestive of lymphoma and immunohistochemistry confirmed it as ALK positive, anaplastic large cell lymphoma. Even though FNAC is a part of the diagnostic triad for breast lesions, potential pitfalls cannot be overlooked and must be correlated with biopsy.
乳腺是结外淋巴瘤的少见部位,占所有结外淋巴瘤的2.2%。B细胞淋巴瘤比T细胞淋巴瘤更常见。最常见的亚型是弥漫性大B细胞淋巴瘤。乳腺淋巴瘤具有非特异性的临床和放射学特征,诊断非常困难。我们报告一例罕见的原发性T细胞淋巴瘤,患者为20岁女性。超声检查误诊为脓肿,细针吸细胞学检查误诊为化脓性乳腺炎。然而,切除活检提示淋巴瘤,免疫组织化学证实为ALK阳性,间变性大细胞淋巴瘤。尽管FNAC是乳腺病变诊断三位一体的一部分,但潜在的缺陷也不能忽视,必须与活检相关联。
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引用次数: 0
Effects of neural mobilization in the treatment of chronic low back pain: a systematic review 神经活动在慢性腰痛治疗中的作用:一项系统综述
Pub Date : 2022-07-16 DOI: 10.53986/ibjm.2022.0028
Suelen Carla Souza de Faria, Renato Carvalho Vilella, Laiz Helena de Castro Toledo Guimaraes, Luciana Crepaldi Lunkes
Introduction: Low back pain appears in approximately two thirds of the population at some point in life and when it exceeds more than 12 weeks, it evolves to chronic low back pain. Chronic low back pain is considered one of the most common causes of disability and absence from work. A therapeutic technique that can be used as a treatment for chronic low back pain is neural mobilization, capable of restoring compromised neurological structures, restoring movement by improving the elasticity of neural tissue and adjacent tissues. Objective: To verify the effects of neural mobilization in patients with chronic low back pain. Material and methods: All articles were carefully evaluated in order to obtain concrete and reliable information. The databases used were Google Scholar, Scielo, Medline and PubMed due to the methodological quality and articles in the area of interest. The keywords “low back pain”, “chronic low back pain”, “neural mobilization” and “physiotherapeutic intervention” were combined in the most diverse possibilities, in English and Spanish translations. Results: 86 articles were found, nine of which were included in this review. They had a score ≥ 5 on the PEDro Scale, which methodologically qualifies the articles. After analyzing the results obtained through the selected articles, all the data collected, as well as their respective results, were described in a table that contains data from the articles. Conclusions: Neural mobilization reduces pain and improves the extensibility of tissues, causing a reduction in painful sensation and increased flexibility. Therefore, it is necessary to continue research in order to verify new results obtained through this type of intervention.
简介:大约三分之二的人在生命的某个阶段出现腰痛,当超过12周时,就会发展为慢性腰痛。慢性腰痛被认为是导致残疾和缺勤的最常见原因之一。一种可用于治疗慢性腰痛的治疗技术是神经活动,能够恢复受损的神经结构,通过改善神经组织和邻近组织的弹性来恢复运动。目的:探讨神经活动对慢性腰痛患者的影响。材料和方法:所有的文章都经过仔细评估,以获得具体和可靠的信息。由于方法质量和相关领域的文章,使用的数据库是Google Scholar, Scielo, Medline和PubMed。关键词“腰痛”、“慢性腰痛”、“神经活动”和“物理治疗干预”以最多样化的可能性组合在一起,以英语和西班牙语翻译。结果:共纳入86篇文献,其中9篇纳入本综述。他们在PEDro量表上得分≥5分,这在方法学上使文章合格。在对所选文章的结果进行分析后,将收集到的所有数据以及各自的结果用包含文章数据的表格进行描述。结论:神经活动可以减轻疼痛,提高组织的伸展性,减少疼痛感,增加灵活性。因此,有必要继续研究,以验证通过这类干预获得的新结果。
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引用次数: 1
Napoleon Bonaparte: An Emperor who died needing good surgical care 拿破仑·波拿巴:一位去世时需要良好外科护理的皇帝
Pub Date : 2022-07-10 DOI: 10.53986/ibjm.2022.0027
Kaushik Bhattacharya, N. Bhattacharya
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引用次数: 0
Takotsubo syndrome and impending thyroid storm: A case report and brief review of the literature Takotsubo综合征和即将发生的甲状腺风暴:一个病例报告和简短的文献回顾
Pub Date : 2022-07-10 DOI: 10.53986/ibjm.2022.0026
Yilmar Alexander Meza-González, Natalia Alfonso-Arrieta, V. Flórez-García
Stress cardiomyopathy also called Takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction of the left ventricle with electrocardiographic changes and an increase in troponin levels imitating myocardial infarction, but in the absence of angiographic evidence of obstructive coronary artery disease. Although the exact causal process has not been determined, it has been mentioned in connection with thyroid diseases. We describe a woman's case that experienced severe chest pain along with electrical and analytical abnormalities. Significant ventricular dysfunction was present, and the invasive coronary angiography revealed no lesions, which was compatible with stress cardiomyopathy. Impending thyroid storm due to Graves’ disease was observed as a trigger and it is imperative to identify and treat any clinical variables that could put patients at risk for Takotsubo syndrome or have an impact on the course of their treatment.
应激性心肌病也称为Takotsubo心肌病,其特征是左心室短暂的局部收缩功能障碍,心电图改变,肌钙蛋白水平升高,与心肌梗死相似,但没有阻塞性冠状动脉疾病的血管造影证据。虽然确切的因果过程尚未确定,但已提到与甲状腺疾病有关。我们描述了一个妇女的情况下,经历了严重的胸痛以及电和分析异常。有创冠状动脉造影未见病变,与应激性心肌病相符。格雷夫斯病引起的甲状腺风暴被认为是触发因素,必须识别和治疗任何可能使患者面临Takotsubo综合征风险或影响其治疗过程的临床变量。
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引用次数: 1
Current management of complicated infantile hemangiomas: Atenolol or Propranolol? 目前复杂婴儿血管瘤的治疗:阿替洛尔还是心得安?
Pub Date : 2022-07-01 DOI: 10.53986/ibjm.2022.0025
I. Lozada‐Martínez, Claudia Marcela Castañeda-Moreno, Juan Pablo Duran-Tabera, Gloria Patricia Crecian-Pérez
a Medical and Surgical Research Center, Future Surgeons Chapter, Colombian Surgery Association, Bogotá, Colombia b Grupo Prometheus y Biomedicina Aplicada a las Ciencias Clínicas, School of Medicine, Universidad de Cartagena, Cartagena, Colombia c Department of Medicine, Universidad Cooperativa de Colombia, Villavicencio, Colombia d Department of Medicine, Universidad del Quindío, Armenia, Colombia e Department of Medicine, Universidad Libre, Barranquilla, Colombia
a Medical and Surgical Research Center,未来Surgeons,章,少数Surgery Association,哥伦比亚波哥大b组普罗米修斯和临床应用生物医学科学,School of Medicine),哥伦比亚的卡塔赫纳卡塔赫纳大学c Department of Medicine)、哥伦比亚大学合作、比亚维森西奥、哥伦比亚d Department of Medicine)、迪奥、亚美尼亚、哥伦比亚大学和Department of Medicine自由大学,哥伦比亚巴兰基亚
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引用次数: 0
Comparison of Cognitive and Behavioural Problems and Psychiatric Diagnoses in Preterm Born Children between 6-13 Years Old 6 ~ 13岁早产儿认知行为问题与精神病学诊断的比较
Pub Date : 2022-06-26 DOI: 10.53986/ibjm.2022.0022
Rahime Hülya Bingöl Çağlayan, Burcu Gökalp Ozcan, Mine Elagöz Yüksel, Irem Hamamcioglu Yanardoner, V. Çeri, Merve Minkari Tunçay, Fatma Çölkesen Pamukcu, Güneş Özen Urcan, T. Ercan, B. Doğangün
Introduction: Despite the increased survival rates follow up studies of preterm born children have documented increased prevalence of neurodevelopmental disabilities and cognitive deficits. By using psychiatric assessment, we aimed to evaluate cognitive functions by comparing preterm born babies according to the week of gestation by comparing the scores of the Wechsler Intelligence Scale for Children-Revised Form (WISC-R) in childhood. Material and methods: Children with a history of birth as preterm babies between 1998-2004 were included in the study. The children born between 27-36 weeks, currently 6-13 years old were admitted to the study. The controls consisted of healthy children chosen from the nearest primary school. The WISC-R test was administered to all children. Classification was made according to gestational age. The comparison of cognitive functions was performed by comparing the WISC-R scores of the preterm group and the control group. Results: 238 children were included in our prospective study. (case group: 175 children, control group: 63 children). Because of the comparison of the WISC-R scores of the preterm and control groups, the WISC-R verbal score and WISC-R total score were found to be statistically significant between the preterm and control groups. In the analysis made according to the gestation age, no statistical significance was found between the WISC-R Verbal, WISC-R performance, and WISC-R total scores according to the week of gestation. No statistically significant difference was found in terms of previous and current psychiatric diagnoses. Conclusions: While the WISC-R score was, found to be statistically significantly higher in the case group compared to controls. Our results differed from those in the literature that preterm children had a lower WISC-R score and it indicates the need to investigate this situation by further studies, even by different tests.
导读:尽管早产儿的存活率增加了,但对早产儿的随访研究表明,神经发育障碍和认知缺陷的患病率增加了。采用精神病学评估的方法,通过比较儿童韦氏智力量表(WISC-R)的评分,对不同妊娠周的早产儿进行认知功能评价。材料和方法:研究对象为1998-2004年间有早产史的儿童。这些出生在27-36周之间,目前年龄在6-13岁的孩子被纳入研究。对照组是从最近的小学挑选的健康儿童。对所有儿童进行WISC-R测试。根据胎龄进行分类。通过比较早产组和对照组的WISC-R评分进行认知功能的比较。结果:238名儿童被纳入我们的前瞻性研究。(病例组175例,对照组63例)。通过比较早产儿与对照组的WISC-R评分,发现早产儿与对照组的WISC-R言语评分和WISC-R总分差异有统计学意义。在按孕周进行的分析中,按孕周进行的WISC-R Verbal、WISC-R performance和WISC-R总分之间的差异均无统计学意义。在过去和现在的精神诊断方面没有发现统计学上的显著差异。结论:病例组的WISC-R评分在统计学上明显高于对照组。我们的结果与文献中早产儿WISC-R评分较低的结果不同,这表明需要通过进一步的研究,甚至通过不同的测试来调查这种情况。
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引用次数: 0
Plasmid carriage and the natural complexity of bacterial populations contributes to plasmid persistence 质粒的携带和细菌种群的自然复杂性有助于质粒的持久性
Pub Date : 2022-06-14 DOI: 10.53986/ibjm.2022.0024
Tatiana Hillman
Introduction: Plasmids carry and transport genes that assist their hosts to survive in many environments. Many studies have examined the conditions for plasmid persistence in bacterial populations. A limitation includes that a majority of the mathematical models for examining plasmid persistence only included bacteria from similar colonies. However, most bacterial cells inhabit complex communities where plasmids disseminate between varied bacterial host cells. Thus, there is a gap in knowledge concerning the persistence of plasmids in natural bacterial populations. To address a few of these gaps in knowledge, the present study attempted to examine the effects of plasmid carriage on intrinsic stages of bacterial populations in Bacillus subtilis co-cultures. Material and methods: B. subtilis cells were transformed with CRISPR-hCas-9 plasmid vectors where the natural phases of bacterial growth, biofilm production, and antibiotic resistance were examined in relation to plasmid carriage. These three natural phases were measured in relation to plasmid carriage through in vitro co-culture assays. Results: After calculating the CFU/mL, bacterial growth in the B. subtilis-Carrier with Escherichia coli (B. sub-C-E. coli) and Vibrio harveyi (B. sub-C-VH) co-cultures significantly decreased with a paired-t-test two-tailed P=0. The WT B. subtilis-V.H samples, the B. subtilis Carrier-V.H co-cultures, and the controls each scored a total of 40, 47, and 46 of crystal violet (CV) intensity of biofilm, respectively. Biofilm formation decreased after co-culturing E. coli with the B. subtilis-Carrier, yielding a P<0.001. The antibiotic resistance levels of the co-cultures increased by 3% for the B. sub-C-V.H samples while the B. sub-C-E. coli co-cultures decreased in antibiotic sensitivity by approximately 1.5%. Conclusions: Plasmid carriage contributes to plasmid persistence via altering the natural phases of bacterial populations.
质粒携带和运输基因,帮助宿主在许多环境中生存。许多研究已经检查了细菌种群中质粒持久性的条件。一个限制包括大多数用于检查质粒持久性的数学模型只包括来自相似菌落的细菌。然而,大多数细菌细胞居住在复杂的群落中,质粒在不同的细菌宿主细胞之间传播。因此,关于天然细菌种群中质粒持久性的知识存在空白。为了解决这些知识上的空白,本研究试图研究质粒携带对枯草芽孢杆菌共培养细菌种群内在阶段的影响。材料和方法:用CRISPR-hCas-9质粒载体转化枯草芽孢杆菌细胞,检测细菌生长、生物膜产生和抗生素耐药性的自然阶段与质粒载体的关系。通过体外共培养测定这三个自然相与质粒携带的关系。结果:计算CFU/mL后,细菌在枯草芽孢杆菌载体中生长,大肠杆菌(b亚c - e);大肠杆菌)和哈维弧菌(B. sub-C-VH)共培养量显著降低,双尾配对t检验P=0。枯草芽孢杆菌WT - v - h样品、枯草芽孢杆菌载体- v - h共培养样品和对照样品的结晶紫(CV)强度分别为40、47和46。大肠杆菌与枯草芽孢杆菌载体共培养后,生物膜形成减少,P<0.001。b- sub- c - vh样品的共培养抗生素耐药水平提高了3%,而b- sub-C-E样品的共培养耐药水平提高了3%。大肠杆菌共培养降低了约1.5%的抗生素敏感性。结论:质粒携带通过改变细菌种群的自然相来促进质粒的持久性。
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引用次数: 0
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Iberoamerican Journal of Medicine
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