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

An 8-month-old boy, the first child of a fourth-degree consanguineous couple with an uneventful past medical history, presented with fever and respiratory distress. He was intubated and managed with high-frequency ventilation. Chest radiography revealed bilateral white-out lungs, and his oxygenation index was 31. Pneumocystis jirovecii was identified through polymerase chain reaction of respiratory secretions. The child was treated with cotrimoxazole and systemic steroids. Due to the severity of the infection caused by an atypical organism, an underlying immunodeficiency was suspected. Genetic analysis revealed a novel homozygous mutation in the RFXANK gene, consistent with major histocompatibility complex class II deficiency. This case represents a rare inborn error of immunity with survival following a severe infection.

Background: Diabetic peripheral neuropathy (DPN) is a prevalent microvascular consequence of diabetes with a complex etiology. Adiponectin, an adipokine with anti-inflammatory and neuroprotective properties, has been implicated in DPN, but its significance remains unclear due to conflicting findings. The objective of this systematic review is to assess the association between circulating adiponectin levels and the risk of DPN in individuals with diabetes.

Methods: We did a systematic literature search in PubMed, Scopus, and CINAHL for studies investigating adiponectin levels in diabetes patients with and without DPN. A meta-analysis was done to evaluate the pooled mean difference in adiponectin levels between patients and controls. Study quality was rated using the Joanna Briggs Institute's critical appraisal tool.

Results: The systematic review comprised 13 studies with 3,337 participants. Meta-analysis of 4 studies (920 participants) indicated no significant difference in adiponectin levels between DPN patients (n=418) and controls (n=502) (pooled mean difference 0.01, 95% CI: -0.24 to 0.26, p=0.94), with strong heterogeneity (I²=59%). Subgroup analyses were not possible due to inadequate data. Risk of bias was generally low, with 7 studies graded as good quality.

Conclusions: Our findings imply that circulating adiponectin levels are not linked with the risk of DPN in diabetes. However, the substantial heterogeneity among studies underscores the need for more well-designed prospective studies to explain the role of adiponectin in DPN etiology.

Background: The role of anemia and iron deficit in the pathogenesis of SARS-CoV-2 is not well established. Anemia is a common finding in patients infected with SARS-CoV-2, however few studies analyze the impact of iron metabolism changes in disease progression during SARS-CoV-2 infection. Our study analyses the influence of hemoglobin and red blood cell iron deficit at the time of infection in the prognosis of patients with COVID.

Materials and methods: This observational retrospective study collected and analyzed data from a cohort of unvaccinated patients, collecting data on variables such as erythrocyte indices associated with iron deficiency, hemoglobin and several analytical variables associated with inflammation, and analyzing its correlation with clinical outcome. Patients were classified into three groups: non-anemic, anemic (non-iron deficiency) and iron deficiency anemic (IDA). We looked for the impact of those parameters and classification on disease progression.

Results: We collected data of 435 patients with COVID infection, 322 patients with anemia and 113 without anemia as controls. Among patients with anemia, 159 had IDA and 163 were non-IDA patients. As expected, anemic patients had worse clinical evolution compared to non-anemic patients: ward admission 71.7% vs. 42.4%, p<0.001; ICU admission 18% vs. 7%, p=0.03. Interestingly, patients presenting with IDA at the onset of infection showed a better outcome when compared to non-iron deficiency anemic patients, with lower rate (56.6% vs. 86.5%, p<0.001) and duration (8 vs. 15 days, p<0.001) of admission to ward, ICU admission (8.1% vs. 27.6%, p<0.001) and length of ICU stay (17 vs. 23 days, p<0.001). Furthermore, patients with IDA showed less pronounced signs of an inflammatory process, as reflected by lower CRP (114 vs. 168 mg/L, p<0.001) and ferritin levels (301 vs. 1026 g/L, p<0.001). Other factors as age, sex, presence of comorbidities, ratio lymphocytes/neutrophils and maximum COHb concentration exhibited a significant influence on patient's outcome. Multivariate regression analysis showed that presence of IDA remains an independent prognostic factor that protect patients from admission to ward and/or ICU.

Conclusion: Our findings highlight the importance of evaluating the iron status, particularly iron deficiency anemia, in patients with COVID-19, as it is associated with a more favorable prognosis. Patients with iron deficiency anemia exhibit a more favorable outcome compared to other anemic patients. This association remains significant even after adjusting for confounding factors such as age, sex, and the presence of other comorbidities.

Background: Insulin resistance may occur in various organs, including adipose tissue, which causes increased lipolysis and blood free fatty acids (FFA). Insulin resistance in adipose tissue is commonly assessed using the Adipose Tissue Insulin Resistance (Adipo-IR) index, calculated using fasting insulin and FFA levels. This study aimed to evaluate which obesity index has the best predictive value to determine Adipo-IR.

Methods: This cross-sectional study is conducted on 80 non-diabetic adult subjects. Measurements and assessments of the relationship between obesity indices and Adipo-IR values were performed.

Results: Waist circumference (r = 0.275, p = 0.013), BMI (r = 0.318, p = 0.004), visceral fat (r = 0.334, p = 0.002), and body fat percentage (r = 0.246, p = 0.028) were all significantly correlated with Adipo-IR. The area under the curve (AUC) showed that visceral fat had the most significant predictive value of insulin resistance in adipose tissue compared to BMI, waist circumference, and body fat (AUC = 0.690 vs 0.663 vs 0.620 vs 0.570). Subjects with visceral fat values in the fourth quartile had a 6-fold risk of experiencing insulin resistance in adipose tissue compared to subjects in quartile 1 (OR = 6, p = 0.014, 95% CI 1.324-27.191).

Conclusions: The Adipo-IR index increases with the value of the obesity index. Visceral fat has the highest predictive value in determining the occurrence of adipose tissue insulin resistance.

Background: Accreditation of laboratories offering diagnostic services improves the operation of clinical as well as research performance.

Objective: This case report describes the journey of Hararghe Health Research Laboratory from it's inception to the International Organization for Standardization 15189:2012 accreditation by the Ethiopian Accreditation Service.

Methods: An external consultant conducted a baseline audit in November 2019 following the World Health Organization African Region's Stepwise Laboratory Quality Improvement Process Towards Accreditation guideline. The follow-up internal audit was conducted in January 2021. Then, an on-site laboratory assessment was conducted by experts from Ethiopian Accreditation Service towards the end of 2022.

Findings: The Hararghe Health Research laboratory received multiple remarks during audit by external consultant and drew up a corrective action plan. Some of the actions were revision of quality policy manual, managerial and technical documents, participation in the United Kingdom National External Quality Assessment Scheme and implementation of the International Organization for Standardization 15189:2012 accreditation checklist. The internal audit revealed a total of 26 gaps in the microbiology and 16 in the molecular biology sections and these were filled by the end of April 2022.The laboratory was cited for nine minor non-conformities during an assessment by experts from the Ethiopian Accreditation Service. The laboratory developed a corrective action plan, cleared non-conformities by end of February 2023 and received the accreditation certificate on 3rd May 2023. The laboratory's accreditation achievement in less than five years is a significant milestone and serves as a model for other institutions to achieve it in a similar time frame.

Background: Despite advancements in medical care, including coronary interventions and medications, cardiovascular-related mortality and morbidity remain disproportionately high among patients with diabetes mellitus. A significant factor contributing to this issue is the presence of asymptomatic macrovascular and microvascular angiopathies in many diabetic patients. These vascular complications are often detected at later stages, resulting in the failure of treatment strategies to effectively prevent the progression of heart failure and mitigate worsening conditions. Given this background, our research aims to explore the potential of the biochemical marker NT-pro-BNP (N-terminal pro b-type natriuretic peptide) in the early detection of left ventricular diastolic dysfunction in diabetic patients who maintain a preserved ejection fraction. Left ventricular diastolic dysfunction is a condition where the left ventricle has difficulty relaxing and filling with blood, which can precede the development of heart failure. Identifying this dysfunction early could be crucial in preventing major adverse cardiac events (MACE) such as heart attacks, stroke, and cardiovascular-related death. The focus of our study is to determine whether NT-pro-BNP, which is typically elevated in heart failure, can serve as an early marker for diastolic dysfunction in this specific patient population. By identifying diabetic patients at risk earlier, interventions could be tailored more effectively, potentially improving outcomes and reducing the incidence of severe cardiovascular events.

Study population and methods: This study was conducted at a tertiary care medical care hospital in Madurai, Tamil Nadu, India, with a sample population of 500 patients who had preserved ejection fraction. The participants were divided into two groups: 169 diabetic patients and 150 non-diabetic patients. As part of the baseline assessment, routine clinical chemistry analysis and 2D echocardiograms were performed. Additionally, the biomarker NT-pro-BNP, which is associated with heart failure, was measured using the electrochemiluminescence method.

Result: Among the diabetes and non-diabetes groups, the biomarker NT-pro-BNP were significantly different and the serum concentration of NT-pro-BNP was found to be higher in poor glycemic control type 2 diabetes mellitus patients. Serum NT-pro-BNP screening and 2D echocardiogram showed the best predictor of left ventricular diastolic dysfunction and hospital stay due to major adverse cardiac events in type 2 diabetes mellitus patients.

Conclusion: Our study highlights the clinical significance of NT-pro-BNP among (left ventricular diastolic dysfunction) type 2 diabetes mellitus with preserved ejection fraction > 60 %.

Background: Musculoskeletal injuries may be directly caused by workplace practices such as poor posture, high frequency static muscle work, repetitive motion and forced exertion. Healthcare professionals are more likely to be exposed to common risk factors related to the nature of their work requiring repetitive tasks, insufficient breaks and long stressful working hours. They are predisposed to musculoskeletal injuries.

Methods: The plan, do, check, act cycle (PDCA) was conducted at the Aga Khan University Hospital, Karachi. The team was assigned with the roles and responsibilities of disseminating accurate information and supervision of relevant ergonomic activities. The goals were enacted upon using videos, songs, and posters as a means of raising awareness of ergonomic practices. Pre and post activity assessment related to knowledge and practice of ergonomics were evaluated.

Results: After conducting micro-lectures and sharing informative videos, flyers and recordings of all micro-lectures via a WhatsApp group, awareness about posture-related musculoskeletal disorders increased from 85% (n=35) pre-audit to 100% post-audit. Knowledge of the 20-20-20 rule was initially 49% (n=33) before the audit and reached 100% (n=41) after awareness and training. Understanding of exercises to strengthen the back, shoulders, and hands improved from 80% (n=33) pre-audit to 100% post-audit. Following these awareness activities, which included multimedia photos and videos, 88% of participants adopted ergonomic practices, up from the previous 34%.

Conclusion: The implementation of a structured training program using the PDCA cycle will significantly enhance ergonomic practices. By integrating multimedia tools such as videos, and posters, a single training intervention led to a marked improvement in participants' ergonomic practices. To sustain and further enhance this progress, ongoing education at regular intervals is essential, as it is likely to continue improving ergonomic knowledge and practices, thereby reducing the incidence of musculoskeletal disorders.

Introduction: CKD affects 8.6% of the global population, with South Asian countries seeing prevalence rates between 10.6% and 23.3%, including 21.2% in Pakistan. CKD's burden is further exacerbated in South Asia due to rising hypertension and diabetes. Accurate estimation of glomerular filtration rate (GFR) and albuminuria are vital for CKD management. Despite increasing CKD studies, regional testing remains underdeveloped. This survey evaluates CKD testing practices in Pakistan, aiming to propose recommendations for improving uniformity, enhancing surveillance, and advancing CKD care standards.

Methods: A cross-sectional survey was conducted by the Chemical Pathology section at Aga Khan University (AKU) using a validated questionnaire developed by International Federation of Clinical Chemistry (IFCC) which was modified for local context. The survey, distributed via Google Forms to major laboratories across Pakistan, focused on CKD testing methods. Data were analyzed using Excel (Microsoft Corporation, 2018) software.

Results: A total of 13 laboratories participated in the survey. All laboratories measured serum creatinine, while two measured serum cystatin C, eleven measured urinary protein, and ten measured urinary albumin. GFR was estimated using equations in 10 laboratories, with CKD-EPI 2021 (29%), MDRD (22%), and CKD-EPI Pak (14%) being the most commonly used. However, only six laboratories employed pediatric equations for children. Significant variability was observed in the testing methods for serum creatinine, urinary protein, and urinary albumin.

Conclusion: Our findings emphasize the urgent need to standardize CKD testing in Pakistan. Inconsistencies in estimated GFR reporting, serum creatinine measurement and proteinuria testing highlight the need for harmonized protocols to improve diagnosis, management, and public health outcomes.

Background: Renal stone disease, a prevalent urological disorder, significantly impacts public health in Nepal. Analyzing the composition of renal stones is crucial for understanding their etiology and guiding treatment and prevention strategies. FTIR spectroscopy is a reliable technique for identifying the chemical composition of renal stones. This study aims to analyze the composition of renal stones using FTIR spectroscopy in a referral laboratory in Nepal.

Methods: A total of 300 renal stones from patients were analyzed. The stones were collected, cleaned, and powdered before being subjected to the Thermo Fisher Scientific FTIR Spectrometer. The spectra obtained were compared to the reference spectra to determine the composition of the stones.

Results: The analysis revealed that calcium oxalate monohydrate in 41% and calcium oxalate dihydrate in 29 % were the commonest types. Other less common compositions included uric acid, struvite, and cystine stones.

Conclusion: FTIR spectroscopy effectively identified the composition of renal stones in the studied population. The predominance of calcium oxalate stone highlights the need for targeted prevention and treatment strategies in Nepal.

Background: Creutzfeldt-Jakob disease (CJD) is a rare human form of prion disease caused by misfolded, transmissible proteinaceous infection particles (prions). As a fatal neurological illness, it mostly presents with rapidly progressive dementia, and most patients die within a year of clinical onset and diagnosis. The lack of an intravital test for CJD limits its timely diagnosis. A brain biopsy/autopsy is considered the gold standard for definitive diagnosis of CJD, however owing to its highly invasive and transmissible nature, it is rarely performed. In this case report, we try to highlight the important role of combining serology, EEG, and CSF investigations, often used for the diagnosis of CJD. Combining these in the laboratory improves the timely diagnosis of this rare and fatal disease.

Case summary: We report a clinical case study of a 65-year-old female, who presented to the Neurology OPD at a tertiary care referral centre, with chief complaints of forgetfulness, behavioural changes, and involuntary movements in the right upper limb for the last 7 months. According to the informant (daughter), the patient was asymptomatic 7 months ago after which she started developing these gradual onset symptoms. Later she was bed-bound and dependent on her family members for her daily chores and had even lost control over her bowel and bladder habits. On physical examination, the patient was found to be disoriented and afebrile with normal vitals, however, CNS examination showed a low Mini Mental Examination Score (MMSE). The patient was admitted to the neurology ward for further evaluation and a definitive diagnosis. Differential diagnosis was ruled out using various lab tests, CSF analysis, and neuroimaging. CSF report tested positive for 14-3-3 protein and CSF protein marker by RT-QuIC was outsourced. The confirmatory diagnosis of sporadic CJD was made based on clinical presentation, CSF analysis, and neuroimaging.

Conclusion: Definitive diagnosis of CJD was possible with the help of various lab tests which helped rule out differential neurodegenerative diseases.