Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine最新文献

Pseudo hypoaldosteronism (PHA) is a type of channelopathy leading to life-threatening hyperkalemia, hyponatremia and metabolic acidosis in neonates. Type I PHA (PHAI) is characterized by either mutation in NR3C2 (MLR) gene or genes related to subunit of ENaC channel, whereas Type II (A to E) PHA is due to mutations in other genes. Type I PHA is further divided into systemic and renal forms based on the gene and organ involved. Systemic PHAI is a rare, multisystem disease presenting as severe salt wasting in neonates. In this article, we report a case of systemic pseudohypoaldosteronism type 1 in a 2 days old neonate with a novel mutation involving SCNN1B gene. Our patient appears to be the first reported case of systemic PHAI due to SCNN1B mutation from India.

Background: An association between nephrotic syndrome and extrarenal neoplasia was described for the first time in 1922. The reported incidence of nephrotic syndrome in Hodgkin lymphoma is less than 1%.

Clinical description: We present a 13 year old boy who was admitted with complaints of abdominal pain, vomiting and loose stools for 2 months. He had a history of significant weight loss of 5kg in a couple of months.On examination, he had bilateral pedal oedema and right cervical lymphadenopathy. Cervical lymph node biopsy revealed nodular sclerosis type of Hodgkin lymphoma. He also had hypoalbuminemia, massive proteinuria and hypercholesterolemia.Secondary nephrotic syndrome due to Hodgkin's lymphoma was made as a clinical diagnosis.

Management and outcome: He had been started on chemotherapy (with Prednisolone, Vincristine, Doxorubicin, Etoposide) for stage 3B Hodgkin lymphoma. He tolerated the chemotherapy well. Though he had symptomatic edema, managed conservatively as the urine output was adequate. On follow up, he attained spontaneous remission of nephrotic syndrome.

Conclusion: Overt proteinuria might be the manifestation of paraneoplastic syndrome in children with Hodgkin lymphoma and with the management of the primary disease, proteinuria resolves spontaneously.

Interpretative comment (IC) from the clinical biochemist is a professional obligation. Most of the Nepalese clinical laboratories use only predefined comments on the report, while few laboratories do not provide comments at all. Apart from doctors, other healthcare professionals and sometimes patients themselves seek laboratory expert opinion in the interpretation of obtained results. The non-availability of patient's medical record or limited communication with physicians as well as insufficient professional knowledge impacts the quality of interpretative comments in Nepal. This report is intended to emphasize that the task of providing IC is becoming more important in the context of Nepal. Similarly, this report also guides those who provide interpretative comments.

Background: Point-of-care testing (POCT), which is also known as bed side-testing, has been integrated into the healthcare system, offering faster results that can lead to improved patient outcomes. POCT was missing from the medical education curriculum in our institute.

Objectives: The primary objective of this study was to describe the development and introduce POCT training for medical students in a medical college in Pakistan.Secondary objectives were to evaluate student performance on POCT content and to assess the impact of POCT training via students' feedback.

Methodology: The boot camp experience was devised, directed, and facilitated by team constituting of Chemical Pathology faculty members, laboratory technologists and teaching assistants. The program included presentations, demonstrations of POCT instrument handling, supervised hands-on individual performance on glucometer using quality control specimens, competency assessment and sign off followed by interactive case-based discussions. A knowledge quiz via Kahoot was administered at the beginning and end of the experience and scores were compared statistically. Online evaluation and feedback were designed via virtual learning environment based on 10 questions regarding the program and methodology using on a five-point Likert Scale. Frequencies were generated and t-tests were employed to determine pre-post differences.

Results: The boot camp was spread over 2 days and ran three hours each day with the third-year medical students class split into two groups (n=80). On knowledge evaluation, the mean group pre and post test scores were 45% and 95% respectively (p-value =< 0.05). On documented structured competency assessment form a score of 95 was achieved by 100% participants. Positive feedback of 4 or more was recorded on the Likert's scale by 100% respondents.

Conclusion: This POCT boot camp experience can be used by other institutions and can be applied at different times during the medical school curriculum and other professional education programs. This bootcamp will be helpful to educate medical students, postgraduate trainees and field workers working in rural areas and in low resource settings to deliver reliable POC tests results. Future research should examine these students' competence in achieving POCT skills when they enter in clinical practice.

Background: The reference interval (RI) is an interval between two limits derived from distribution of the results obtained from a sample of the reference population. These population based RIs are of paramount significance for the accurate clinical understanding of the patient's health status. Haematological RIs are heavily influenced by a variety of geographical and environmental factors. Therefore, accrediting bodies also mandate that each laboratory should establish its own RIs in its own population.

Methods: This cross-sectional study was conducted at the Department of Pathology and Laboratory Medicine, the Aga Khan University Hospital, Pakistan.Twenty-one routine and special quantitative analytes were measured in adults aged 18-60 years who passed the initial health screening questionnaire. All samples were handled strictly following standard operating procedures. Microsoft Excel and EP Evaluator software were used for statistical analysis. Nonparametric CLSI EP28-A3C method was used to establish upper and lower confidence limits at 90% significance.

Results: A total of 323 participants passed the questionnaire and were short-listed for blood collection. There were 147 males and 176 females. Reference intervals were established in 297 participants after exclusion of 26 outliers with grossly abnormal test results. Analytes included: 8 red, and 12 white blood cell parameters, platelet count, immature platelet fraction, erythrocyte sedimentation levels, haemoglobin A and A2 levels and glucose-6-phosphatase dehydrogenase levels.

Conclusion: Routine and special haematology RIs established in this study reflect significant differences from RIs in Caucasian population. For meaningful interpretation of test results, each haematology laboratory should establish or verify RIs in the population it serves.

Background and aims: Early detection and management of renal abnormalities in children can reduce the progression of paediatric chronic kidney disease. Currently, data on the prevalence of routine abnormal urinary parameters are scarce in Indian population. This study aims to identify the prevalence of asymptomatic kidney diseases in Indian school children and the population who may benefit from routine urinary screening tests for timely identification and intervention of asymptomatic renal diseases.

Materials and methods: A total of 1675 children from a North Indian, multiethnic population aged 5-19 years were screened for hematuria and proteinuria by dipstick test from a midstream, clean urine specimen. The children who tested positive had their urine tested further for microscopy. The incidences of proteinuria and hematuria were also separately checked in hypertensive children.

Results: 76 children had urinary abnormalities with the prevalence of isolated haematuria in 1.9%, isolated proteinuria in 0.35% and glycosuria in 0.06%. When these children were followed with urine microscopy, 44 were observed to have abnormal findings. Of these, 4.5% children had proteinuria, 34% had isolated hematuria, and 47.7% had isolated WBCs. The prevalence for proteinuria was 0.60% and the prevalence for hematuria was 2.99% (in upper decile of SBP) in hypertensive children, both of which were more than the prevalence in otherwise healthy children.

Conclusion: Urine screening is a non-invasive, inexpensive test for early detection of occult renal diseases. A large-scale study with follow-up of children with urinary abnormalities will further establish the benefit, if any, of a national paediatric urine screening programme.

Objectives: Widespread vaccination is considered as one of the best methods in combating any pandemic including COVID-19. Gam-COVID-Vac also known as Sputnik V, is one of the first vaccines that was registered in 74 countries and received an emergency approval for immunization. Monitoring anti-SARS-CoV-2 antibodies over time is essential for evaluation of post-vaccination humoral immune response.To date, there are only a limited number of clinical studies regarding the analysis of immune response after Sputnik V administration. It is of crucial importance to report independently on safety and efficiency of this vaccine with the aim to speed up the process of its final approval by the WHO.

Methods: Humoral immune response was monitored by seven immunoassays to analyze different classes of anti-SARS-CoV-2 Ig in five health workers after receiving the combined vector vaccination. This vaccine is based on two replication-deficient rAd26 and rAd5 viral vectors that carry the gene SARS-CoV-2 full-length glycoprotein S(rAd26-S and rAd5-S). Sputnik V was administered with a 21-day interval between the first and second dose. Venous blood was collected two hours before vaccination as a baseline, and then followed by 18 series up to 170-day post-vaccination.

Results: The participants in this study used a self-report form in which they noted their observations on safety at 72 h post-immunization. One participant reported mild side effects, such as muscle pain and fever, while the other four individuals had no noticeable complications. Seroconversion was detected in all individuals at 28 days of post-vaccination. Plateau of seropositivity has been achieved by 50th day of vaccination, while titer values decreased after 6 months.

Conclusion: This study provides some clinical data regarding the kinetics of antibody levels elicited after administration of heterologous rAd26-S and rAd5-S vaccine. Based on the preliminary data from this pilot study, it appears that Sputnik V vaccine generates a solid humoral immune response lasting at least 6 months after immunization.

Introduction: Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), the novel viral pathogen that causes coronavirus disease 2019 (COVID-19) in humans, has spread worldwide since its identification in late 2019. The pandemic produced an accelerated development of new serological techniques for diagnosis.

Methods: We evaluated two commercial assays for serological diagnosis of SARS-CoV-2 infection, approved by the Administración Nacional de Medicamentos, Alimentos y Tecnología Médica (ANMAT) in Argentina: Elecsys Anti-SARS-CoV-2; Roche for nucleocapsid total antibody detection, and VIDAS Anti-SARS-CoV-2 bioMérieux for spike protein IgG antibody detection. Sensitivity was assessed using a panel of 92 plasma samples from recovered COVID-19 patients who were positive for RT-PCR and positive for neutralizing antibodies by plaque reduction neutralization test (PRNT) and/or positive for IgG antibodies by indirect immunofluorescence assay (IFA). Specificity was determined studying 71 plasma samples collected during year 2018 prior to the COVID-19 pandemic. Assays were evaluated as stand-alone tests.

Results: Sensitivity was 97.8% and 98.9% for the Roche and bioMérieux assays, respectively, specificity: 98.5% (Roche) and 97.1% (bioMérieux), positive predictive value (PPV): 98.9% (Roche) and 97.8% (bioMérieux), and negative predictive value: (NPV) 97.2% (Roche) and 98.5% (bioMérieux). Additionally, Cohen's kappa coefficient demonstrated high concordance (k=0.950) between Roche and bioMérieux.

Discussion: In conclusion, our results evidenced a very good performance for the nucleocapsid antibody assay (Roche) and the spike protein antibody assay (bioMérieux), thus both platforms are equally adequate for indirect diagnosis of SARS-CoV-2 infection through total antibodies and IgG antibody detection, respectively.

COVID-19 is an acute respiratory infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). To date, more than 550 million cases and 6 million deaths have been reported worldwide. This study investigated the laboratory features in hospitalised patients with COVID-19 and determined risk factors for in-hospital mortality. This retrospective observational study included laboratory results of confirmed cases of hospitalised patients with SARS-CoV-2 infection in Jersey (UK) between March-December 2020 (subject to inclusion criteria), and a control group. Furthermore, COVID-19 patients were split into two sub-groups, based on outcome (non-survivors vs. survivors). Logistic regression was used to determine risk factors for in-hospital mortality. A total of 81 COVID-19 cases and 100 controls were included in this study. In the COVID-19 group, 59.3% of subjects were male, and the overall mortality was 33.3%. The main laboratory changes were the following: 95.1% of patients presented with raised C-reactive protein (p<0.001), 85% showed increased fibrinogen (p<0.001), 70% had prolonged prothrombin time (p=0.014), 51.9% suffered from lymphopenia (p<0.001), 42% had elevated gamma glutamyl transferase (p=0.011) and 35.8% demonstrated raised creatinine concentration (p=0.002). Non-survivors were older than survivors (median age: 82 vs. 74 years, p=0.003) with substantial lymphopenia (p=0.018), high creatinine level (p=0.009), and leukocytosis (p=0.018). Increased in-hospital mortality risk was 6.7-fold in patients presenting with a lymphocyte count <0.85 x10⁹/L, 5.3-fold with red blood cell distribution width >14%, 4.9-fold with white cell count >9.5 x10⁹/L, and 3.3-fold for those presenting with creatinine >100 μmol/L. Age ≥82 years was significantly associated with death, and male gender a risk factor for hospital admission in COVID-19. These results demonstrate that routine haematology and biochemistry tests may allow for risk-stratification of hospitalised patients with COVID-19.