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Game of clones: A case of ELANE gene mutation-related neutrope 克隆游戏:一例ELANE基因突变相关的中性粒细胞
Pub Date : 2021-05-31 DOI: 10.36303/jmlstsa.2021.3.1.65
N. Mashigo, M. Esser
Mutations in the ELANE gene, which encodes the neutrophil elastase (NE) protein in neutrophils, result in ELANE-related neutropenia. ELANE-related neutropenia encompasses both cyclic neutropenia (CN) and severe congenital neutropenia (SCN), with ELANE mutations seen in a majority of SCN and almost all of CN patients.Clinical history in affected individuals typically reveals recurrent episodes of fever, oral ulcerations and bacterial as well as fungal infections, correlating with periodic oscillations or chronically low levels in the absolute neutrophil count (ANC). ELANE-related neutropenia is characterised by severely low neutrophil counts where ANCs may drop as low as zero.A two-year-old child presented at our hospital with a longstanding history of recurrent bacterial infections and previous admissions at another centre during some of these infectious episodes. Her full blood count demonstrated a markedly low ANC, which was chronic on assessment of her previous results. Decreased granulopoiesis with maturation arrest was seen on her bone marrow and genetic testing for the ELANE gene demonstrated a pathogenic variant of the mutation. Treatment with granulocyte colony-stimulating factor (G-CSF) was initiated.
编码中性粒细胞弹性蛋白酶(NE)蛋白的ELANE基因突变导致ELANE相关的中性粒细胞减少症。ELANE相关中性粒细胞减少症包括循环中性粒细胞减少症(CN)和严重先天性中性粒细胞减少症(SCN), ELANE突变见于大多数SCN和几乎所有CN患者。受影响个体的临床病史通常表现为反复发作的发热、口腔溃疡、细菌和真菌感染,与绝对中性粒细胞计数(ANC)的周期性振荡或长期低水平相关。elane相关中性粒细胞减少症的特征是中性粒细胞计数严重降低,其中anc可能低至零。一名两岁儿童在我院就诊,长期有复发性细菌感染病史,在这些感染发作期间曾在另一中心住院。她的全血细胞计数显示ANC明显低,根据她先前的结果评估,这是慢性的。在她的骨髓中可见成熟停止的粒细胞生成减少,ELANE基因的基因检测显示该突变的致病性变异。开始使用粒细胞集落刺激因子(G-CSF)治疗。
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引用次数: 0
An overview of medical diagnostic laboratories in South Africa that meet the international standard of accreditation: ISO 15189 南非符合国际认证标准的医学诊断实验室概述:ISO 15189
Pub Date : 2021-05-31 DOI: 10.36303/jmlstsa.2021.3.1.61
H. Khadambi-Morokane, K. Bhowan, S. Ayuk
Accreditation is an official recognition that a facility or laboratory is competent to perform specific tasks and has a documented manual on a Quality Management System (QMS) in place. According to the Accreditation Act 19 of 2006, South African National Accreditation Systems (SANAS) is the only internationally recognised accreditation body in South Africa. The International Organization for Standardization (ISO) standard specifically for medical laboratory accreditation is ISO 15189:2012. This review is designed to bring awareness of accredited and unaccredited medical diagnostic laboratories in SA; to look at the number of accredited, unaccredited laboratories and the rate of accreditation growth; to examine the state of accreditation in South Africa with regard to how many are accredited, suspended or withdrawn; and to highlight the advantages of being an accredited laboratory. It also examines the nonconformances commonly raised during assessment and an overview of accreditation around the world.Upon accreditation, the laboratory is given the right to use the SANAS symbol on patient request forms or results as a confirmation of competency. This has motivated more and more laboratories to be accredited. Diagnostic laboratories contribute much toward the final decisions taken by clinicians to diagnose the patients or treatment; this may be from an accredited or non-accredited laboratory. Since patient care is inextricably linked to pathology testing, every laboratory should engage a premium QMS and be evaluated by an accreditation body to ensure that patients receive a trustworthy report.Accreditation is a voluntary process in South Africa but mandatory in some Western countries. Although some laboratories might lose accreditation along the way, the ratio compared to those accredited is still very small. The fact that a majority remain accredited is a good indication of a well-implemented QMS. The challenges faced by the medical technologist-owned laboratories remain, as they are still not accredited.
认可是对工厂或实验室有能力执行特定任务的官方认可,并有关于质量管理体系(QMS)的文件手册。根据2006年第19号认可法案,南非国家认可系统(SANAS)是南非唯一得到国际认可的认可机构。国际标准化组织(ISO)专门针对医学实验室认证的标准是ISO 15189:2012。本审查旨在提高对南非认可和未认可的医学诊断实验室的认识;查看获认可和未获认可实验室的数目,以及获认可实验室的增长速度;审查南非的资格认证状况,包括有多少资格认证、暂停或撤销;并强调作为认可实验室的优势。它还检查了在评估过程中通常提出的不符合项,并概述了世界各地的认证情况。获得认证后,实验室有权在患者申请表或结果上使用SANAS标志,作为对能力的确认。这促使越来越多的实验室获得认证。诊断实验室对临床医生做出诊断或治疗的最终决定有很大贡献;这可能来自认可或非认可的实验室。由于患者护理与病理检测密不可分,每个实验室都应该采用优质的质量管理体系,并由认证机构进行评估,以确保患者收到值得信赖的报告。认证在南非是一个自愿的过程,但在一些西方国家是强制性的。尽管一些实验室可能会失去认证,但与获得认证的实验室相比,这一比例仍然很小。事实上,大多数机构仍然获得认可,这很好地说明了质量管理体系得到了很好的实施。医疗技术人员拥有的实验室面临的挑战仍然存在,因为它们仍然没有得到认可。
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引用次数: 1
An audit of unnecessary preoperative urea and electrolyte panel tests in patients undergoing major orthopaedic surgery at a quaternary South African hospital 南非一家第四医院对接受大型骨科手术的患者进行不必要的术前尿素和电解质检查的审计
Pub Date : 2021-05-31 DOI: 10.36303/jmlstsa.2021.3.1.73
Y. Moodley, SS Mashele
Background: Preoperative urea and electrolyte (U&E) panels are frequently requested for major surgery patients at risk for postoperative acute kidney injury (AKI). There is only one published study that has audited unnecessary preoperative U&E test panel utilisation in major surgery patients at a South African (SA) public sector hospital. This has significant implications for laboratory workloads, healthcare expenditure, and patient-friendly practice in the resource-limited SA public healthcare sector.Objective: To audit preoperative U&E panel requests in a sample of SA patients undergoing major orthopaedic surgery.Methods: We conducted a retrospective audit of adult primary hip arthroplasty patients who attended a quaternary SA hospital. Data on demographics, medical history, preoperative anaesthetic evaluations, operation details, and U&E panel requests were collected from each patient’s medical chart. The National Institute for Health and Care Excellence (NICE) guidelines, based on American Society of Anesthesiologists (ASA) grading and the presence of AKI risk factors, was used to distinguish between necessary and unnecessary preoperative U&E requests. We used descriptive statistics to analyse our study data.Results: Of the 175 patients comprising our study sample, 23 (13.1%) had preoperative U&E panels requested unnecessarily. All 23 patients were otherwise healthy and did not have any AKI risk factors.Conclusion: A small proportion of preoperative U&E test panels in our study sample of major orthopaedic surgery patients were deemed unnecessary. With that being said, there is still room for improvement in practices around preoperative U&E panel requests, which could be achieved through educational, computerised, and audit feedback interventions.
背景:术前尿素和电解质(U&E)检查经常被要求用于有术后急性肾损伤(AKI)风险的大手术患者。只有一项已发表的研究审计了南非(SA)公立医院大手术患者术前不必要的U&E检测面板的使用。这对资源有限的南非公共医疗保健部门的实验室工作量、医疗保健支出和患者友好型实践具有重大影响。目的:审核一组接受骨科大手术的SA患者术前U&E小组的要求。方法:我们对一家第四SA医院的成人原发性髋关节置换术患者进行了回顾性审计。从每位患者的病历中收集人口统计、病史、术前麻醉评估、手术细节和U&E小组请求等数据。根据美国麻醉师协会(ASA)分级和AKI危险因素的存在,国家健康与护理卓越研究所(NICE)指南被用于区分必要和不必要的术前U&E请求。我们使用描述性统计来分析我们的研究数据。结果:在我们的研究样本中的175例患者中,23例(13.1%)进行了不必要的术前U&E检查。所有23例患者在其他方面都很健康,没有任何AKI危险因素。结论:在我们研究的骨科大手术患者样本中,有一小部分术前U&E检查板被认为是不必要的。综上所述,术前U&E专家组请求的实践仍有改进的空间,这可以通过教育、计算机化和审计反馈干预来实现。
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引用次数: 0
Establishment of reference intervals of biochemical analytes for South African adults: a study conducted as part of the IFCC global multicentre study on reference values 建立南非成人生化分析的参考区间:作为IFCC全球多中心参考值研究的一部分进行的一项研究
Pub Date : 2021-05-31 DOI: 10.36303/jmlstsa.2021.3.1.64
F. Smit, K. Ichihara, J. George, E. Blanco-Blanco, M. Hoffmann, R. Erasmus, TE Matsha-Erasmus
Objective: This study was conducted as a part of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) global study for establishing reference intervals (RIs) of common laboratory tests for the South African population considering gender, ethnicity, age and body mass index (BMI).Methods: The researchers recruited 1 143 apparently healthy volunteers aged 18–65: 551 African (Afr) and 592 non-African (NAfr) (comprising 383 Caucasian and 209 Mixed Ancestry). Serum samples were measured for 40 chemistry and immunochemistry analytes. The standard deviation ratio (SDR) guided the need for partitioning reference values according to gender, ethnicity and age using a threshold of ≥ 0.4. The latent abnormal values exclusion (LAVE) method was applied to reduce influences of latent diseases before deriving RIs using both parametric and non-parametric methods.Results: Based on SDRsex, males showed higher albumin, uric acid, creatinine, AST, CK and ferritin. Based on SDRRC, Afr compared to NAfr showed (i) higher total protein, amylase, CRP, immunoglobulin G and A and (ii) lower total bilirubin, total cholesterol, low-density lipoprotein cholesterol (LDL-C), ALT and cholinesterase. Both age-related changes in glucose and LDL-C, and BMI-related changes in ALT, ALP and LDH were more prominent in NAfr. RIs were determined according to gender, age and ethnicity. The LAVE method was effective in lowering the upper RI limits (UL) of nutritional markers such as γGT and CRP. Compared to the non-parametric method, the parametric method gave narrower confidence intervals of ULs for analytes with skewed distributions.Conclusion: Establishing RIs by considering ethnicity was essential in many analytes in South Africa. Age and BMI-related changes differed greatly between Afr and NAfr.
目的:本研究是作为国际临床化学和检验医学联合会(IFCC)全球研究的一部分进行的,该研究旨在为南非人口建立参考区间(RIs),考虑性别、种族、年龄和体重指数(BMI)。方法:研究人员招募了1143名年龄在18-65岁之间明显健康的志愿者:551名非洲人(Afr)和592名非非洲人(NAfr)(包括383名高加索人和209名混合血统)。对血清样品进行40项化学和免疫化学分析。标准偏差比(SDR)指导了根据性别、种族和年龄划分参考值的需要,阈值≥0.4。在使用参数和非参数方法推导RIs之前,采用潜在异常值排除法(LAVE)来降低潜在疾病的影响。结果:从性别上看,男性的白蛋白、尿酸、肌酐、AST、CK和铁蛋白水平较高。根据SDRRC,与NAfr相比,Afr显示:(1)总蛋白、淀粉酶、CRP、免疫球蛋白G和A较高,(2)总胆红素、总胆固醇、低密度脂蛋白胆固醇(LDL-C)、ALT和胆碱酯酶较低。年龄相关的葡萄糖和LDL-C变化以及bmi相关的ALT、ALP和LDH变化在NAfr中更为突出。RIs是根据性别、年龄和种族来确定的。LAVE法能有效降低营养标志物γ - gt和CRP的RI上限(UL)。与非参数方法相比,参数方法对偏态分布的分析物给出了更窄的置信区间。结论:在南非的许多分析中,通过考虑种族来建立RIs是必不可少的。Afr和NAfr的年龄和bmi相关变化差异很大。
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引用次数: 3
Comparison of endocervical swabs to cultured isolates for the detection of antimicrobial resistance determinants in Neisseria gonorrhoeae 宫颈拭子与培养分离菌检测淋病奈瑟菌耐药决定因素的比较
Pub Date : 2021-05-31 DOI: 10.36303/jmlstsa.2021.3.1.66
G. Oree, Meleshni Naicker, HC Maise, N. Abbai
Background: The global emergence of antimicrobial resistance (AMR) in Neisseria gonorrhoeae to various antibiotics is a public health concern. To date, there have been no published South African studies that have compared the primary swab to the cultured isolates for the detection of N. gonorrhoeae AMR determinants. This study provides data on such a comparison.Methods: Paired endocervical swabs were collected from 307 pregnant women. The first swab was stored in an Amies charcoal transport media for culture assessment and the second swab was used for the molecular detection of resistant determinants. Specific targets (genes/plasmids/mutations) associated with resistance to penicillin, tetracycline, ciprofloxacin, spectinomycin, cefixime, azithromycin and ceftriaxone were detected from both the cultured isolates and the endocervical swabs.Results: Of the 307 samples tested in this study, only six samples tested positive for culture. A total of 24 samples tested positive for N. gonorrhoeae with the quantitative polymerase chain reaction (qPCR) assay. The six samples which tested positive for culture fell within the qPCR positives group. Since this study was designed to directly compare the culture swabs to the endocervical swabs for the detection of AMR determinants, the current analysis included only the six culture samples and six paired endocervical swab samples (n = 6). All six isolates were resistant to tetracycline and penicillin G while five of the six isolates were resistant to ciprofloxacin. All isolates were susceptible to the remaining antimicrobials. There was a 100% correlation between the cultured isolates and endocervical swabs for detecting the specific AMR determinants, conferring resistance to tetracycline, penicillin G and ciprofloxacin.Conclusion: Based on the findings of this study, tracking emerging patterns of resistance from the molecular level using only the endocervical swabs may serve as an attractive future research direction.
背景:淋病奈瑟菌对各种抗生素的耐药性(AMR)在全球范围内的出现是一个公共卫生问题。迄今为止,还没有发表的南非研究将原始拭子与培养分离株进行比较,以检测淋病奈瑟菌AMR决定因素。这项研究为这种比较提供了数据。方法:对307例孕妇进行配对宫颈拭子检查。第一个拭子储存在Amies木炭运输介质中用于培养评估,第二个拭子用于耐药决定因素的分子检测。从培养的分离株和宫颈内拭子中均检测到与青霉素、四环素、环丙沙星、大霉素、头孢克肟、阿奇霉素和头孢曲松耐药相关的特异性靶点(基因/质粒/突变)。结果:在本研究检测的307份样品中,只有6份样品培养阳性。经定量聚合酶链反应(qPCR)测定,共有24份样本淋病奈瑟菌检测呈阳性。培养检测呈阳性的6个样本属于qPCR阳性组。由于本研究旨在直接比较培养拭子与宫颈拭子检测AMR决定因素,因此目前的分析仅包括6个培养样本和6个配对宫颈拭子样本(n = 6)。所有6株分离株均对四环素和青霉素G耐药,而6株分离株中有5株对环丙沙星耐药。所有分离株均对剩余抗菌素敏感。培养的分离株与宫颈拭子检测特异性AMR决定因素之间存在100%的相关性,从而确定对四环素、青霉素G和环丙沙星具有耐药性。结论:基于本研究结果,仅使用宫颈拭子从分子水平追踪新出现的耐药模式可能是一个有吸引力的未来研究方向。
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引用次数: 1
A comparison of preoperative hypoalbuminaemia with the NNIS and SENIC risk scores for the prediction of surgical site infection in a South African setting 术前低白蛋白血症与预测南非手术部位感染的NNIS和SENIC风险评分的比较
Pub Date : 2020-07-01 DOI: 10.36303/jmlstsa.2020.2.1.33
N. Naidoo, T. Madiba, Y. Moodley
Introduction: Preoperative hypoalbuminaemia is a risk factor for surgical site infection (SSI) in the South African (SA) setting. However, the predictive accuracy of preoperative hypoalbuminaemia has not been tested against established SSI risk stratification models in our setting, which could have important implications for SSI prevention strategies. With reference to SSI in SA settings, the study objective was to compare the overall predictive accuracy of preoperative hypoalbuminaemia with that obtained for the SENIC/NNIS risk scores.Method: This was a sub-analysis of a pre-existing laparotomy patient registry (N = 439). Variables collected as part of the registry included preoperative serum albumin measurements and all parameters of the SENIC/NNIS risk scores. Preoperative hypoalbuminaemia was defined as preoperative serum albumin of < 30 g/L. The study outcome was SSI up to 30 days postoperatively. Overall predictive accuracy was determined through a receiver operator-characteristic (ROC) curve analysis, with results presented as C-statistics (95% confidence intervals [CI]).Results: The C-statistics obtained for preoperative hypoalbuminaemia, the SENIC risk score, and the NNIS risk score were 0.677 (CI: 0.609–0.746), 0.652 (CI: 0.582–0.721), and 0.634 (CI: 0.563–0.705).Conclusion: All three methods display similar predictive accuracy for SSI. However, preoperative hypoalbuminaemia has several practical advantages over the SENIC/NNIS scores which must be considered.
前言:术前低白蛋白血症是南非(SA)手术部位感染(SSI)的危险因素。然而,术前低白蛋白血症的预测准确性尚未在我们的环境中对已建立的SSI风险分层模型进行测试,这可能对SSI预防策略具有重要意义。参考SA环境下的SSI,研究目的是比较术前低白蛋白血症的总体预测准确性与SENIC/NNIS风险评分的预测准确性。方法:这是对已有剖腹手术患者登记的亚分析(N = 439)。作为登记的一部分收集的变量包括术前血清白蛋白测量和SENIC/NNIS风险评分的所有参数。术前低白蛋白血症定义为术前血清白蛋白< 30 g/L。研究结果为术后30天的SSI。总体预测准确度通过受试者操作特征(ROC)曲线分析确定,结果以c统计量(95%置信区间[CI])表示。结果:术前低白蛋白血症、SENIC风险评分、NNIS风险评分的c -统计值分别为0.677 (CI: 0.609 ~ 0.746)、0.652 (CI: 0.582 ~ 0.721)、0.634 (CI: 0.563 ~ 0.705)。结论:三种方法对SSI的预测准确度相近。然而,术前低白蛋白血症比SENIC/NNIS评分有几个实际的优势,这是必须考虑的。
{"title":"A comparison of preoperative hypoalbuminaemia with the NNIS and SENIC risk scores for the prediction of surgical site infection in a South African setting","authors":"N. Naidoo, T. Madiba, Y. Moodley","doi":"10.36303/jmlstsa.2020.2.1.33","DOIUrl":"https://doi.org/10.36303/jmlstsa.2020.2.1.33","url":null,"abstract":"Introduction: Preoperative hypoalbuminaemia is a risk factor for surgical site infection (SSI) in the South African (SA) setting. However, the predictive accuracy of preoperative hypoalbuminaemia has not been tested against established SSI risk stratification models in our setting, which could have important implications for SSI prevention strategies. With reference to SSI in SA settings, the study objective was to compare the overall predictive accuracy of preoperative hypoalbuminaemia with that obtained for the SENIC/NNIS risk scores.\u0000\u0000Method: This was a sub-analysis of a pre-existing laparotomy patient registry (N = 439). Variables collected as part of the registry included preoperative serum albumin measurements and all parameters of the SENIC/NNIS risk scores. Preoperative hypoalbuminaemia was defined as preoperative serum albumin of < 30 g/L. The study outcome was SSI up to 30 days postoperatively. Overall predictive accuracy was determined through a receiver operator-characteristic (ROC) curve analysis, with results presented as C-statistics (95% confidence intervals [CI]).\u0000\u0000Results: The C-statistics obtained for preoperative hypoalbuminaemia, the SENIC risk score, and the NNIS risk score were 0.677 (CI: 0.609–0.746), 0.652 (CI: 0.582–0.721), and 0.634 (CI: 0.563–0.705).\u0000\u0000Conclusion: All three methods display similar predictive accuracy for SSI. However, preoperative hypoalbuminaemia has several practical advantages over the SENIC/NNIS scores which must be considered.","PeriodicalId":332687,"journal":{"name":"Journal of Medical Laboratory Science & Technology of South Africa","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115677266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
期刊
Journal of Medical Laboratory Science & Technology of South Africa
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