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Artificial intelligence in clinical chemistry – Boon or a bane 临床化学中的人工智能--利还是弊
Pub Date : 2024-02-15 DOI: 10.18231/j.ijcbr.2023.047
Uma Maheshwari K
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引用次数: 0
Expanding the screening of newborns for detecting inborn errors in metabolism using next generation sequencing following mass spectrometry/immunoassay 在质谱/免疫测定之后使用新一代测序技术扩大新生儿筛查范围,以检测先天性代谢错误
Pub Date : 2024-02-15 DOI: 10.18231/j.ijcbr.2023.059
A. Christy, Eatu Das, Jasmin Surana, Pradnya Padhye, Kedar Shirodkar, Rakhi Bajpai Dixit, Kirti Chadha
Inborn errors of metabolism are rare inherited disorders which leads to significant morbidity and mortality in patients. Very few studies have been conducted in India to assess prevalence of Inborn Errors of Metabolism (IEM) in newborns. We proposed testing by TMS/TR-FIA followed by NGS. This pilot study would be one of the first expanded NBS studies in India.The aim of this study was to determine the prevalence of IEM in newborns based on the samples received at Metropolis Global Reference Lab, India. Next-generation sequencing (NGS) was done as a confirmational analysis for patients tested presumptive positive on Newborn screening using Tandem Mass spectrometry (TMS) and Time-resolved fluoroimmunoassay (TR-FIA).  Two years retrospective study was conducted based on incidences of IEM using TMS and TR-FIA. NGS testing was performed on presumptive positive newborns for cystic fibrosis (CF), galactosemia and urea cycle disorder/ organic academia (UCD /OA) who had undergone NBS by TMS and TR-FIA. Highestprevalence of 1.98% & 1.58% was detected for G6PD and TSH respectively by TR-FIA. Prevalence of AA disorders (3.20%), OA (1.60%) and UCD (1.43%) was observed to be the highest amongst the diseases detected by TMS. Presumptive positive case of Argininemia and Cystic Fibrosis were found to be concordant with NGS. Out of three presumptive positive cases, one presumptive positive case of CF and two of galactose were found discordant.   Our prevalence study showed similarities to the prevalence reports published by other Asian countries. Expanded NBS program can be improved by including NGS as a first follow-up test after detection of abnormal metabolites in DBS. This approach will help in reducing the encumbrance of false-positive as well as false-negative cases. Our study will be influential in conducting more prospective studies and routine implementation of NGS-based analysis in NBS in India.
先天性代谢异常是一种罕见的遗传性疾病,会导致患者严重的发病率和死亡率。印度很少有研究评估新生儿先天性代谢异常(IEM)的患病率。我们建议先进行 TMS/TR-FIA 检测,然后再进行 NGS 检测。这项试点研究将是印度首批扩大的 NBS 研究之一。这项研究的目的是根据印度 Metropolis 全球参考实验室收到的样本确定新生儿 IEM 的患病率。使用串联质谱(TMS)和时间分辨荧光免疫分析法(TR-FIA)对新生儿筛查推测阳性的患者进行了下一代测序(NGS)作为确证分析。 使用 TMS 和 TR-FIA 对 IEM 发病率进行了为期两年的回顾性研究。通过 TMS 和 TR-FIA 对囊性纤维化 (CF)、半乳糖血症和尿素循环障碍/有机学 (UCD /OA) 的推定阳性新生儿进行了 NGS 检测。通过 TR-FIA 检测,G6PD 和 TSH 的患病率最高,分别为 1.98% 和 1.58%。在 TMS 检测出的疾病中,AA 病(3.20%)、OA 病(1.60%)和 UCD 病(1.43%)的患病率最高。精氨酸血症和囊性纤维化的假定阳性病例与 NGS 一致。在三个推定阳性病例中,发现一个 CF 推定阳性病例和两个半乳糖推定阳性病例不一致。 我们的患病率研究与其他亚洲国家公布的患病率报告有相似之处。通过将 NGS 作为 DBS 检测到异常代谢物后的首次随访检测,可以改进 NBS 扩大计划。这种方法将有助于减少假阳性和假阴性病例。我们的研究将对开展更多前瞻性研究和在印度 NBS 中常规实施基于 NGS 的分析产生影响。
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引用次数: 0
Elevated foetal haemoglobin in tribal sickle cell anaemic patients: Blessing in disgust? 部落镰状细胞贫血患者的胎儿血红蛋白升高:不幸中的万幸?
Pub Date : 2024-02-15 DOI: 10.18231/j.ijcbr.2023.050
D. Trivedi, Priyali Purandare
Sickle cell anaemia is a molecular disease. WHO recognises it as a global public health problem. In India, it is common among tribal communities. Increased HbS is a culprit. Therapeutic research is focused on maintaining high levels of HbF and decreasing 2,3, BPG to target disease. To assess the role of naturally compensated haemoglobin variants in tribal Sickle cell anaemic patients of North East Gujarat. Prospective, analytical, case control study conducted on randomly selected fifty tribal Sickle cell anaemic patients having disease for more than 5 years. Fifty age and sex matched, healthy control subjects. Each fifty Tribal sickle cell anaemic patients and healthy control were included in the study. Total Haemoglobin level, Sickling test by NESTROFT method and Haemoglobin variants were analysed by alkaline haemoglobin electrophoresis. Frequencies of clinical crises were recorded by oral questioning. The results were analysed using SPSS version 20. Student unpaired t- test was employed to assess the significance of the differences. P-values < 0.05 considered statistically significant. We observed decreased levels of total haemoglobin, high levels of HbF and HbA2 along with reduced HbA0. Compensatory increase of HbF in tribal SCA patients have shown lower frequency of clinical crises. Reduced HbA0 in sickle cell anaemia is compensated by naturally elevated HbF and HbA2 in tribal patients which has a beneficial influence on their general health.
镰状细胞性贫血是一种分子疾病。世卫组织认为这是一个全球性的公共卫生问题。在印度,这种疾病在部落社区很常见。HbS 增高是罪魁祸首。治疗研究的重点是维持高水平的 HbF 和减少 2、3、BPG,以针对疾病。评估自然代偿血红蛋白变体在古吉拉特邦东北部镰状细胞贫血患者中的作用。对随机挑选的 50 名患病 5 年以上的镰状细胞性贫血患者进行前瞻性病例对照分析研究。50 名年龄和性别匹配的健康对照对象。研究对象包括 50 名镰状细胞性贫血患者和健康对照组。通过碱性血红蛋白电泳分析总血红蛋白水平、NESTROFT 法进行的西克林测试和血红蛋白变异。通过口头询问记录了临床危机的频率。结果使用 SPSS 20 版进行分析。采用学生非配对 t 检验来评估差异的显著性。P 值小于 0.05 视为具有统计学意义。我们观察到总血红蛋白水平下降,HbF 和 HbA2 水平升高,HbA0 水平下降。部落 SCA 患者 HbF 的补偿性升高表明临床危机发生的频率较低。镰状细胞性贫血患者的 HbA0 降低可通过部落患者 HbF 和 HbA2 的自然升高得到补偿,这对他们的总体健康产生了有益的影响。
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引用次数: 0
Emerging need of molecular profiling in hepatobiliary cancer 肝胆癌分子图谱分析的新需求
Pub Date : 2024-02-15 DOI: 10.18231/j.ijcbr.2023.058
Dr. Abhinav Manish, Amit Badola
: Gallbladder cancer is a rare malignancy but represents almost 50% of all biliary tract cancer. Biliary cancers are highly fatal malignancies with a 5-year survival rate of approximately 20%. The prognosis of gallbladder cancer is poor due to the aggressive tumor biology, late presentation, complicated anatomic position, and advanced stage at diagnosis.  Locally advanced and metastatic disease treatment is with palliative chemotherapy. Alarming sign of gallbladder cancer is overall decreased in incidence in older patients but increased in the younger population. So many mutations have been reported for the gall bladder cancer till date. : A prospective observational study was conducted over a period of 1 year at Asian Institute of Medical Sciences Faridabad which includes hepatobiliary carcinoma patients who are at stage III and stage IV of cancer. After getting the consent formalin fixed paraffin embedded biopsy samples, and 5 ml serum sample was collected in serum separator tube (SST). A whole genome sequencing was performed using Illumina HiSEQ, Illumina (NGS) technology, allows for high-throughput sequencing of DNA and RNA. Illumina's NGS is based on "sequencing by Synthesis" to detect the mutations.: Most common mutation found was in the P53 gene. TP53 (p.Arg175His), TP53 (p.Arg306Ter), TP53 (p.Cys238Tyr), TP53 (p.Leu43Ter), TP53 (p.Glu339Ter), TP53 (p.Pro190Leu). Mutations in the TP53 gene are a common feature of carcinoma of the gallbladder, and are associated with a more aggressive tumor phenotype, resistance to chemotherapy, and poorer overall survival.
:胆囊癌是一种罕见的恶性肿瘤,但几乎占所有胆道癌症的 50%。胆囊癌是高度致命的恶性肿瘤,5 年生存率约为 20%。由于胆囊癌具有侵袭性肿瘤生物学特性、发病较晚、解剖位置复杂以及诊断时已是晚期,因此预后较差。 局部晚期和转移性疾病的治疗以姑息化疗为主。令人担忧的是,胆囊癌在老年患者中的发病率总体下降,但在年轻人群中却有所上升。迄今为止,已有许多关于胆囊癌突变的报道。 : 在法里达巴德亚洲医学科学研究所进行了一项为期一年的前瞻性观察研究,研究对象包括处于癌症 III 期和 IV 期的肝胆癌患者。在征得同意后,在血清分离管(SST)中收集正式固定石蜡包埋活检样本和 5 毫升血清样本。全基因组测序使用的是 Illumina HiSEQ,Illumina(NGS)技术可对 DNA 和 RNA 进行高通量测序。Illumina 的 NGS 基于 "合成测序 "来检测突变:最常见的突变发生在 P53 基因中。TP53(p.Arg175His)、TP53(p.Arg306Ter)、TP53(p.Cys238Tyr)、TP53(p.Leu43Ter)、TP53(p.Glu339Ter)、TP53(p.Pro190Leu)。TP53 基因突变是胆囊癌的常见特征,与更具侵袭性的肿瘤表型、对化疗的耐药性和较差的总生存率有关。
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引用次数: 0
Recent advances in tuberculosis: A comprehensive review of emerging trends in pathogenesis, diagnostics, treatment, and prevention 结核病的最新进展:全面回顾发病机制、诊断、治疗和预防方面的新趋势
Pub Date : 2024-02-15 DOI: 10.18231/j.ijcbr.2023.048
Abdullah Salim Al-Karawi, A. Kadhim, Maha M Kadum
It is an in-depth analysis of a globally significant infectious disease, tuberculosis (TB). It covers the epidemiology, pathogenesis, diagnosis, treatment and prevention of TB with attention to its successes and shortcomings. The review examines this complicated relationship between Mycobacterium tuberculosis and the human host. It describes how outcomes move from latent infection to active disease. An Overview It introduces the current diagnostic methods, therapeutic regimens and preventive strategies; repeated emphasis is placed on targeted interventions and public health efforts. Also, the review covers future efforts in TB research and control that will further improve prevention and treatment. These include vaccines; new drugs (including a quest for novel agents); improved diagnostics (such as more rapid tests or smear-free methods); public health interventions such as policies on occupational exposures to respiratory rusts; integrated care models including continuity of services between Through these points the review illuminates how much can still be accomplished in terms of controlling--and even eliminating entirely--TB, with ramifications for global public health.
该书深入分析了全球重大传染病--结核病(TB)。内容涵盖结核病的流行病学、发病机制、诊断、治疗和预防,并关注其成功与不足之处。综述探讨了结核分枝杆菌与人类宿主之间的复杂关系。它描述了从潜伏感染到活动性疾病的过程。概述》介绍了当前的诊断方法、治疗方案和预防策略;反复强调了有针对性的干预措施和公共卫生工作。此外,本综述还介绍了未来在结核病研究和控制方面的努力,这些努力将进一步改善预防和治疗。这些措施包括疫苗、新药(包括寻找新型制剂)、改进的诊断方法(如更快速的检测或免涂片方法)、公共卫生干预措施(如关于呼吸道锈病职业接触的政策)、综合护理模式(包括不同服务之间的连续性)。
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引用次数: 0
Correlation study of CBC derivatives and biochemical prognostic marker in covid-19 patients CBC衍生物与covid-19患者生化预后指标的相关性研究
Pub Date : 2024-02-15 DOI: 10.18231/j.ijcbr.2023.054
Roshna Vijay
: SARS-CoV2 infection induces inflammatory responses and acute lung injury in human beings. Infection causes certain haematological and biochemical changes in patients. This study aimed analyze the correlation between CBC derivatives and biochemical prognostic marker in COVID-19.: Total 80 individuals selected, 50 COVID-19 positive patients and 30 subjects negative for COVID-19 RT-PCR test. Blood collected was sent to NLR, RDW, assayed in Beckman Coulter DxH 800. Serum CRP estimated by Immuno-turbidimetric method, ferritin by CLIA. Plasma collected estimate for D-DIMER by CLIA. Unpaired T test & Pearson correlation (IBM SPSS 22.0) were used. : Elevated levels of NLR (p value <0.001), RDW (p value <0.001), FERRITIN (p value <0.001), D-D-DIMER (p value <0.001), CRP (p value <0.001) some research parameters like LHD and RSF show significant decrease. In current study the NLR positively correlate to CRP (r value=0.5, p value <0.001), NLR positively correlate to D-DIMER (r value=0.3, p value<0.05), RDW positively correlated to CRP (r value=, 0.3, p value <0.05), RDW negatively correlated to ferritin (r value=-0.439, p value <0.001)LHD negatively correlated ferritin (r value=-0.316, p value=<0.05), MAF negatively correlated to D-dimer (r value=-0.244 <0.05), MSCV positively correlated with CRP (r value=0.336, p value= <0.05).: The cytokine storm produced during covid-19 infection which inturn develop neutrophilia and lymphopenia, CRP production and also cause elevation of procoagulants &D-dimer. RDW and CRP are positively correlated they are elevated during inflammatory conditions.RDW and FERRITIN show negative correlation. Retrospective study have some limitation so future studies will reveal more information.
:SARS-CoV2 感染会诱发人类的炎症反应和急性肺损伤。感染会引起患者某些血液学和生化指标的变化。本研究旨在分析 COVID-19 感染者的血细胞计数衍生物与生化预后指标之间的相关性:共选取 80 人,其中 50 人为 COVID-19 阳性患者,30 人为 COVID-19 RT-PCR 测试阴性患者。采集的血液送至 RDW 的 NLR,在 Beckman Coulter DxH 800 中进行化验。血清 CRP 采用免疫比浊法估算,铁蛋白采用 CLIA 法估算。收集的血浆通过 CLIA 方法估算 D-DIMER。采用非配对 T 检验和皮尔逊相关性检验(IBM SPSS 22.0)。 结果表明:NLR 水平升高(p 值<0.001)、RDW 水平升高(p 值<0.001)、铁蛋白水平升高(p 值<0.001)、D-DIMER 水平升高(p 值<0.001)、CRP 水平升高(p 值<0.001),而 LHD 和 RSF 等一些研究参数则明显下降。在本研究中,NLR 与 CRP 呈正相关(r 值=0.5,p 值<0.001),NLR 与 D-DIMER 呈正相关(r 值=0.3,p 值<0.05),RDW 与 CRP 呈正相关(r 值=,0.3,p 值<0.05),RDW 与铁蛋白呈负相关(r 值=-0.439,P值<0.001),LHD与铁蛋白负相关(r值=-0.316,P值=<0.05),MAF与D-二聚体负相关(r值=-0.244<0.05),MSCV与CRP正相关(r值=0.336,P值=<0.05):covid-19感染期间产生的细胞因子风暴会导致中性粒细胞增多、淋巴细胞减少、CRP生成,并引起促凝血剂和二聚体升高。RDW和CRP呈正相关,它们在炎症时升高。回顾性研究有一定的局限性,因此未来的研究将揭示更多信息。
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引用次数: 0
Biochemical profile of patients in ketosis-prone diabetes state in Côte d’Ivoire 科特迪瓦易患酮病糖尿病患者的生化特征
Pub Date : 2024-02-15 DOI: 10.18231/j.ijcbr.2023.051
Dere Kwadjo Anicet Luc, K. Gervais, Manhan Kahissie Noel, Fofana Seguenan, Tuo Wako-Tianwa Alice, T. G. Georges
: Diabetes keto-acidosis is the most serious hyperglycemic emergency in patients with diabetes. DKA has long been considered a key clinical feature of T1D. In this study, we assessed biochemical disorders focused on lipid and renal parameters in KPD.: We carried out a case-controls study for one year, encompassing 200 participants in total. Patients were outpatients newly diagnosed diabetics attending for the first time hospitals, controls were no-ketosis participants. Blood samples were taken, after 10 to 12 hours of fasting from the day before, in different tubes for each intended analyses according to instructor’s recommendation. The increased mean value of fasting blood glucose together with HbA1c are corrolated with ketonuria. As regard to cardio-metabolic risk, ketosis-prone patients were at greater risk than no-ketosis controls The mean AIP value was higher in KPD women than in men, with no significant statistical correlation. Uremia and creatininemia, two kidney parameters commonly prescribed to explore glomerular filtration, were correlated with some social indicators. The mean values of these both parameters increased significantly with age in KPD group. Creatinine increased significantly with age in patients, in line with glomerular filtration rate (GFR). The older the participants, the higher the mean values of these parameters. : These biochemical parameters, high atherogenic index and lower glomerular filtration rate, documented in our study, must be sought out when inaugural ketosis is suspected for improving the clinical prognosis of patients in the initial step of management.
:糖尿病酮症酸中毒是糖尿病患者最严重的高血糖急症。长期以来,DKA 一直被认为是 T1D 的主要临床特征。在这项研究中,我们评估了酮症酸中毒患者的生化紊乱,重点是血脂和肾脏参数:我们开展了一项为期一年的病例对照研究,共有 200 名参与者。患者为首次到医院就诊的门诊新确诊糖尿病患者,对照组为无酮症患者。在前一天空腹 10 到 12 个小时后,根据指导老师的建议,在不同的试管中抽取血液样本,用于每次预期的分析。空腹血糖平均值和 HbA1c 的升高与酮尿症有关。在心血管代谢风险方面,易患酮病的患者比未患酮病的对照组风险更高。KPD 女性患者的 AIP 平均值高于男性,但无显著的统计学相关性。尿毒症和肌酐血症这两项常用于检测肾小球滤过功能的肾脏参数与一些社会指标相关。在 KPD 组中,这两个参数的平均值随着年龄的增长而显著增加。肌酐随着患者年龄的增长而明显增加,这与肾小球滤过率(GFR)一致。年龄越大,这些参数的平均值就越高。 我们的研究表明,当怀疑患者患有就诊酮症时,必须注意这些生化参数、高致动脉粥样硬化指数和较低的肾小球滤过率,以便在治疗初期改善患者的临床预后。
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引用次数: 0
Assessment of serum markers in preeclampsia: A prospective study 评估子痫前期的血清标志物:一项前瞻性研究
Pub Date : 2024-02-15 DOI: 10.18231/j.ijcbr.2023.056
Hülya Çiçek, Abdalrhman Kuba, M. Uğur, Elif Bacak Güllü, N. Tepe
Preeclampsia is a disease characterized by hypertension, proteinuria, and edema that occurs after the 20th gestational week. It is among the most important reasons for maternal/perinatal morbidity and mortality. Although many studies have been carried out, the pathophysiology of the disease is not fully known. Many methods have been proposed for evaluating risk factors leading to preeclampsia. In the past, the methods used to predict preeclampsia have usually been focused on non-biochemical markers, but nowadays there is a shift towards biochemical markers. Recently, many biochemical agents have been started to be used in the prediction of preeclampsia. In this study, the evaluation of some serum biomarkers in the follow-up preeclampsia was aimed. Serum nesfatin, ezrin, placental protein 13, hypoxia-inducible factor 1-α subunit (HIF1A), and neuropilin 1 levels were examined with the ELISA method. In the study, 90 samples taken from subjects, including pre-treatment preeclampsia (n =35), post-treatment preeclampsia (n = 35), and healthy control (n = 20) groups were evaluated. The data obtained from the study was analyzed with SPSS 22.0. As a result of the statistical analysis, pre-treatment nesfatin-1, and ezrin levels were found significantly lower than post-treatment and the healthy control group and HIF-1A levels were found significantly higher. As a result of these analyses, pre-treatment and post-treatment PP13 levels were found to be significantly higher than the healthy control group.Considering the results obtained from the study, we can say that nestin, ezrin, HIF1A, PP13, and NRP1 are important biomarkers for predicting preeclampsia.
子痫前期是一种在妊娠 20 周后发生的以高血压、蛋白尿和水肿为特征的疾病。它是孕产妇/围产期发病率和死亡率的最重要原因之一。尽管已开展了许多研究,但对该疾病的病理生理学尚不完全清楚。人们提出了许多方法来评估导致子痫前期的风险因素。过去,用于预测子痫前期的方法通常侧重于非生化标志物,但如今已转向生化标志物。最近,许多生化指标已开始用于预测子痫前期。本研究旨在评估子痫前期随访中的一些血清生物标志物。研究采用 ELISA 方法检测了血清内司蛋白、ezrin、胎盘蛋白 13、缺氧诱导因子 1-α 亚基(HIF1A)和神经蛋白 1 的水平。研究共评估了 90 份受试者样本,包括治疗前子痫组(35 人)、治疗后子痫组(35 人)和健康对照组(20 人)。研究数据采用 SPSS 22.0 进行分析。统计分析结果显示,治疗前子痫前期 nesfatin-1 和 ezrin 水平明显低于治疗后健康对照组,HIF-1A 水平明显高于治疗后健康对照组。考虑到研究结果,我们可以说 nestin、ezrin、HIF1A、PP13 和 NRP1 是预测子痫前期的重要生物标志物。
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引用次数: 0
Vegetarian diet induced new onset acute gouty arthritis in a middle-aged genetically predisposed male: A rare presentation 素食诱发一名有遗传倾向的中年男性新发急性痛风性关节炎:罕见病例
Pub Date : 2024-02-15 DOI: 10.18231/j.ijcbr.2023.060
Poonam Agrawal, Mohit Agrawal, Deepti Chopra
Gout is a metabolic disease characterised by acute or chronic arthritis which is due to deposition of Monosodium urate (MSU) crystals in joints and soft tissues. Classically described as a disease associated with hyperuricemia which may be due to metabolic defect in uric acid production or due to impaired renal excretion.We present a case of 45 year old nondiabetic, non-alcoholic, non-smoker male presented to orthopaedic OPD with complain of pain in right hand and left leg with restriction of joint mobility for past 14 hours.On carefully eliciting the dietary history patient revealed that he was a vegetarian and was on high purine rich diet for past 2 weeks due to family functions and various gatherings. Patient gave the history of consumption of cauliflower, mushrooms, beans along with sweetened carbonated drinks on two consecutive days before the onset of these symptoms.Serum uric acid 4.5 mg/dl, C-reactive protein was 9 mg/dl. To best of our knowledge this is the first case being reported in literatures where purine rich vegetarian diet has induced new case of gout.This kind of gout precipitation after consuming vegetarian diet is rarely reported in literature. This case report emphasizes upon the need of special caution to be taken by persons who are genetically predisposed to gout, while consuming purine rich diet like red meat, seafood, cauliflowers, spinach, rajma, Bengal gram, mushrooms, soft drinks sweetened with fructose.
痛风是一种代谢性疾病,其特征是由于尿酸单钠(MSU)结晶在关节和软组织中沉积而引起的急性或慢性关节炎。我们接诊了一例 45 岁非糖尿病、非酒精中毒、非吸烟的男性患者,主诉右手和左腿疼痛并伴有关节活动受限,且疼痛已持续 14 小时。患者提供的病史显示,在出现这些症状之前,他曾连续两天食用花椰菜、蘑菇、豆类和含糖碳酸饮料。据我们所知,这是文献中报道的首例因食用富含嘌呤的素食而诱发痛风的病例。本病例报告强调,有痛风遗传倾向的人在食用富含嘌呤的饮食(如红肉、海鲜、菜花、菠菜、rabjma、孟加拉草、蘑菇、含果糖的软饮料)时需要特别小心。
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引用次数: 0
Elevated foetal haemoglobin in tribal sickle cell anaemic patients: Blessing in disgust? 部落镰状细胞贫血患者的胎儿血红蛋白升高:不幸中的万幸?
Pub Date : 2024-02-15 DOI: 10.18231/j.ijcbr.2023.050
D. Trivedi, Priyali Purandare
Sickle cell anaemia is a molecular disease. WHO recognises it as a global public health problem. In India, it is common among tribal communities. Increased HbS is a culprit. Therapeutic research is focused on maintaining high levels of HbF and decreasing 2,3, BPG to target disease. To assess the role of naturally compensated haemoglobin variants in tribal Sickle cell anaemic patients of North East Gujarat. Prospective, analytical, case control study conducted on randomly selected fifty tribal Sickle cell anaemic patients having disease for more than 5 years. Fifty age and sex matched, healthy control subjects. Each fifty Tribal sickle cell anaemic patients and healthy control were included in the study. Total Haemoglobin level, Sickling test by NESTROFT method and Haemoglobin variants were analysed by alkaline haemoglobin electrophoresis. Frequencies of clinical crises were recorded by oral questioning. The results were analysed using SPSS version 20. Student unpaired t- test was employed to assess the significance of the differences. P-values < 0.05 considered statistically significant. We observed decreased levels of total haemoglobin, high levels of HbF and HbA2 along with reduced HbA0. Compensatory increase of HbF in tribal SCA patients have shown lower frequency of clinical crises. Reduced HbA0 in sickle cell anaemia is compensated by naturally elevated HbF and HbA2 in tribal patients which has a beneficial influence on their general health.
镰状细胞性贫血是一种分子疾病。世卫组织认为这是一个全球性的公共卫生问题。在印度,这种疾病在部落社区很常见。HbS 增高是罪魁祸首。治疗研究的重点是维持高水平的 HbF 和减少 2、3、BPG,以针对疾病。评估自然代偿血红蛋白变体在古吉拉特邦东北部镰状细胞贫血患者中的作用。对随机挑选的 50 名患病 5 年以上的镰状细胞性贫血患者进行前瞻性病例对照分析研究。50 名年龄和性别匹配的健康对照对象。研究对象包括 50 名镰状细胞性贫血患者和健康对照组。通过碱性血红蛋白电泳分析总血红蛋白水平、NESTROFT 法进行的西克林测试和血红蛋白变异。通过口头询问记录了临床危机的频率。结果使用 SPSS 20 版进行分析。采用学生非配对 t 检验来评估差异的显著性。P 值小于 0.05 视为具有统计学意义。我们观察到总血红蛋白水平下降,HbF 和 HbA2 水平升高,HbA0 水平下降。部落 SCA 患者 HbF 的补偿性升高表明临床危机发生的频率较低。镰状细胞性贫血患者的 HbA0 降低可通过部落患者 HbF 和 HbA2 的自然升高得到补偿,这对他们的总体健康产生了有益的影响。
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International Journal of Clinical Biochemistry and Research
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