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

Introduction: Undernutrition in children is a serious global issue that adversely affects their physical and cognitive development. Anemia is a significant comorbidity contributing to increased mortality in undernourished children. However, it is not being addressed adequately. This study aims to evaluate the clinical and laboratory profile of anemia in undernutrition among under-five children.

Materials and methods: A cross-sectional study was conducted among children between six months to five years of age with undernutrition in a tertiary hospital in North India over a period of one year between December 2021 to December 2022. We observed the prevalence of anemia, its morphological type, micronutrient status, clinical features, and demographic parameters of these children.

Results: Of the 200 children who were enrolled in the study, 72% were found anemic with the proportion of mild, moderate, and severe anemia being 14%,33%, and 25% respectively. The most common type of anemia was microcytic (46.5%) followed by macrocytic (24.3%). Iron (68.7%) was the most common micronutrient deficient in these children with a significant number suffering from vitamin B12 (45.8%) deficiency. Mid-upper arm circumference, worm infestation, pica, and all serum-related parameters had statistical significance in comparison with the severity of anemia.

Conclusion: Despite the significant trend in various aspects of human development, undernutrition and anemia remain a formidable challenge, especially in developing countries. A high proportion of anemia in undernutrition indicates the gravity of the issue, yet not received the deserved attention.

Background: Effective management of blood glucose levels is crucial for individuals with diabetes mellitus, and incorporating physical activity plays a vital role. Recent studies suggest that combining simple, low-impact exercises such as arm rotation and walking can enhance postprandial glycemic control. This study aims to evaluate the impact of a combined arm rotation and walking exercise regimen on postprandial blood glucose and HbA1c levels in people with type 2 diabetes.

Material and methods: A randomized controlled trial was conducted with 92 participants diagnosed with type 2 diabetes, aged 18-82 years. Participants were randomly assigned to an intervention group, which performed a structured exercise protocol involving arm rotation and walking, or a control group, which maintained usual activity. The intervention lasted for 24 weeks, with sessions held five times per week. Blood samples were collected at baseline and after the intervention to measure fasting blood glucose, postprandial blood glucose, and HbA1c levels. Data were analysed using paired t-tests and ANOVA to compare pre-and post-intervention results.

Results: The intervention group showed a significant reduction in postprandial blood glucose levels (mean decrease of 25 mg/dL, p < 0.01) and HbA1c levels (mean decrease of 0.5%, p < 0.05) after 24 weeks. In contrast, the control group exhibited no significant changes. Adherence to the exercise regimen was high, and no adverse events were reported, indicating good tolerability.

Discussion: The findings suggest that combining arm rotation with walking exercises is an effective and practical approach to improve glycemic control in individuals with type 2 diabetes. The improvements may be attributed to enhanced insulin sensitivity and increased muscle activity. These results support incorporating simple, accessible exercises into daily routines for better diabetes management. Further research is needed to assess long-term benefits and optimal exercise protocols.

Introduction: Sialolithiasis, or salivary gland stone formation, is a condition characterized by mineralized deposits in the salivary ducts. This case report highlights the clinical presentation, spontaneous expulsion, and compositional analysis of a salivary stone in a 35-year-old North African male.

Case presentation: A patient with no significant medical history or dental issues presented with a spontaneously expelled salivary stone during a salty meal. The stone, measuring 13 mm and weighing 0.52 g, caused mild pain in the left parotid gland during salty and sour meals. Laboratory tests revealed normal calcium and electrolyte levels. The stone was examined using optical microscopy and Fourier transform infrared spectroscopy (FTIR-ATR), confirming its composition as carbonated apatite with minor organic content.

Discussion: The formation of sialoliths is attributed to salivary stasis and altered salivary composition, promoting calcium phosphate precipitation. FTIR-ATR analysis demonstrated a structure composed of concentric layers of carbonated apatite, indicating progressive mineralization. Smoking and glandular physiology, including higher calcium content and pH in parotid saliva, were likely contributors. Management strategies for sialolithiasis emphasize conservative measures, with surgical intervention reserved for larger stones.

Conclusion: This case underscores the complex interplay of local and systemic factors in sialolith formation. The detailed compositional analysis enhances understanding of pathogenesis, aiding in improved diagnostic and therapeutic approaches for salivary stones.

Background: Hereditary folate malabsorption is an autosomal recessive disorder caused by a pathogenic variant in SLC46A1, affecting proton-coupled folate transporter (PCFT) function. Infants with hereditary folate malabsorption often develop megaloblastic anemia and, without treatment, may experience serious neurodegenerative complications. Thalassemia is also an autosomal recessive genetic disorder. Major or compound heterozygous thalassemia is associated with severe complications and may require regular blood transfusions.

Case: A couple is seeking guidance on the recurrence risk of the condition that led to the loss of their two previous children. The second child's medical history and laboratory findings indicate a low vitamin B12 level 137.5 pg/mL, "reference range 211-911 pg/mL", elevated homocysteine 34.98 μmol/L, "reference range 3.7-13.9 μmol/L", and ferritin levels at 1129 ng/mL "reference range 18.2-341.2 ng/mL". Hematological results show a hemoglobin level of 6.4 g/dL, a total reticulocyte count of 3.39%, MCV of 82.7 fL, MCH of 26.9 pg, RDW of 19.0%, neutrophils at 27%, and lymphocytes at 42%. Hb-HPLC analysis revealed an HbA2 level of 4.6%. Whole-exome sequencing identified a homozygous pathogenic variant in the SLC46A1 gene (c.1127G>A), associated with hereditary folate malabsorption and a heterozygous pathogenic variant in the HBB gene (c.92+5G>C), linked to β-thalassemia. The first child's medical history also suggests low vitamin B12 levels and elevated homocysteine and ferritin levels. Hb-HPLC showed normal results, and genetic testing was not undertaken.

Conclusion: The homozygous SLC46A1 (c.1127G>A) variant is lethal, whereas a heterozygous state with SLC46A1 (c.1127G>A) and HBB (c.92+5G>C) may not be associated with complications like transfusion-dependent thalassemia.

Kidney diseases disproportionately affect people of African descent, yet current estimated glomerular filtration rate (eGFR) equations lack accuracy in African populations. The widely used the race-adjusted Modification of Diet in Renal Disease (MDRD) equation underestimates GFR in African individuals with kidney disease, while newer race-agnostic equations, such as the 2021 CKD-EPI and European Kidney Function Consortium (EKFC) equations, require further validation in these populations. This study evaluated five creatinine-based eGFR equations in a Ghanaian population to assess their impact on chronic kidney disease (CKD) stratification. The study utilized the MDRD, MDRD without race coefficient (MDRDnr), CKD-EPI 2009 and 2021, and EKFC equations, to compare stratification into GFR stages per KDIGO guidelines using creatinine results from adult patients seen at the University of Ghana Medical Centre (January 2021-December 2023). Among 10,864 creatinine results from 6172 females (56.8%) and 4692 males (43.2%), the MDRDnr yielded the lowest median eGFR (76.4 mL/min/1.73 m²), while MDRD had the highest. The MDRDnr identified the highest prevalence of reduced eGFR (<60 mL/min/1.73 m²) at 19.9%, followed by EKFC (14.8%), 2021 (11%), CKD-EPI 2009 (10.6%), and MDRD (8.8%). Notably, one-third of individuals with reduced eGFR (per EKFC) were under 60 years old. The EKFC equation identified more cases of reduced eGFR than both CKD-EPI equations. The MDRDnr and EKFC equations detected the highest proportion of reduced eGFR. However, the EKFC has been shown in other studies to be more accurate. Further validation and adoption of the EKFC equation are recommended for improved CKD diagnosis in Ghana.

Introduction: Monoclonal gammopathy (MG), arising from aberrant clonal proliferation of plasma cells, is diagnosed through the identification of an M-band via serum protein electrophoresis (SPEP), subsequently confirmed by immunofixation electrophoresis (IFE). The presence of two M-bands in SPEP is designated as double or biclonal gammopathy. Conversely, a pseudo-biclonal pattern is characterized by two M-bands on SPEP that resolve into a single immunoglobulin clone upon IFE. This case series delineates three instances of pseudo-biclonal patterns observed on SPEP in the absence of true biclonality.

Methodology: Following ethical approval, a retrospective analysis was conducted on SPEP reports from Sri Ramachandra Medical College & Research Institute, Chennai, spanning 2022 to 2024. Capillary electrophoresis was employed for SPEP, followed by immunofixation.

Results: Three cases exhibiting pseudo-biclonal patterns were identified. Case 1 involved a 73-year-old male with acute kidney injury, hypercalcemia, osteopenia, multiple fractures, and a reversed albumin/globulin ratio, where a biclonal pattern on SPEP resolved to IgA Lambda on IFE. Case 2 concerned a 57-year-old male with nodal marginal lymphoma evaluated for myeloma, whose SPEP biclonal pattern resolved to IgM Kappa with elevated polyclonal immunoglobulins on IFE. Case 3 was an 86-year-old female with acute-on-chronic kidney disease and urosepsis, where SPEP showed a biclonal pattern resolving to IgG Lambda and an additional Lambda isomer on IFE.

Conclusion: This case series highlights pseudo-biclonal patterns stemming from monoclonal gammopathy, polyclonal elevations secondary to tumor lysis syndrome, and double gammopathy due to excess free light chains. The integration of SPEP with immunofixation, serum free light chain, and serum immunoglobulin assays enhances the detection of pseudo-biclonal patterns.

Background: Photometric techniques are the most common methods for measuring serum albumin, where albumin binds with an organic dye to form a complex. These methods are popular due to their simplicity, automation potential, speed, and cost-effectiveness, with bromocresol green (BCG) and bromocresol purple (BCP) being the most frequently used dyes.

Case presentation: A 2-year-old boy presented with facial swelling, starting around the eyes in the morning and gradually spreading to the face, improving by evening, and accompanied by reduced urine output. He was diagnosed with nephrotic syndrome and treated with a high-calorie, high-protein diet, oral prednisolone, furosemide, and intravenous albumin. Despite treatment, his local laboratory's serum albumin level remained consistently low. However, tests from a private lab showed levels higher than the state lab. The nephrology team was informed of this discrepancy and chose to rely on the private lab's results.

Conclusion: A comparison study between BCP and BCG methods found a good correlation overall, but Bland-Altman analysis revealed that BCG had a significant positive bias compared to BCP, explaining the lab discrepancies. The study underscored the importance of clinician awareness of different serum albumin measurement methods, noting that BCP is more specific and does not overestimate albumin in kidney disease patients like BCG does.

Introduction: Incretins are small peptides secreted by the gastrointestinal tract. These peptides exert their action by binding to G-protein-coupled receptors that are widely distributed in the pancreas, throughout the gastrointestinal tract, and the brain. The physiological role of incretins (such as GLP-1) is to regulate glucose levels by increasing insulin secretion, delaying gastric emptying, and decreasing appetite, leading to weight loss.

Method: In this review, we aimed to report the effects of inflammation on human health and how GLP-1 and GLP-1 receptor agonists, which are now being used as first-line agents to control obesity, can have a broader effect on human diseases.

Results: The literature shows the benefits of these drugs in diseases other than obesity, including in diseases of many organs such as heart, kidneys, liver, blood vessels, and in neurodegenerative and psychiatric conditions. These diverse beneficial effects are attributed to the anti-inflammatory activities of these new drugs.

Conclusions: The physiological actions of incretins have recently been better understood. The surprisingly diverse therapeutic activities of this class of new drugs suggest that they will likely play central roles not only in the management of type-2 diabetes but for the treatment of obesity and a wide spectrum of diseases for which inflammation is a major factor.

Background: Chronic kidney disease (CKD) presents a global health challenge, requiring efficient assessment tools for effective management. Albuminuria assessment serves as a crucial indicator of CKD diagnosis, stage-classification, and progression risk. However, for the large-scale screening, the current laboratory-based methods lack portability and entail delays. Point-of-care (PoC) solutions like dipsticks offer promise, but sensitivity limitations persist.

Objective: To address this gap, we evaluated Proflo-U ^® , a novel fluorescent-based urine albumin measurement technology with the potential for PoC deployment, with the immunoturbidity-based Beckman Coulter system.

Results: Our study, based on a blinded comparison of 255 patient samples, revealed a high correlation (R2>0.9) between Proflo-U ^® and Beckman Coulter based measurement. Proflo-U ^® has been able to demonstrate comparable diagnostic accuracy, with strong sensitivity and specificity across different urine albumin concentration categories. Statistical analyses supported its reliability, and Receiver Operating Characteristic (ROC) analysis highlighted its clinically acceptable diagnostic accuracy.

Conclusion: Our findings suggest that Proflo-U ^® holds potential for mass screening initiatives in resource-limited settings to enable early CKD detection and management.

This study aimed to explore the ethical perspectives of laboratory professionals in Nepal regarding laboratory medicine practices. A survey was conducted among participants at the annual conference of laboratory professionals in Nepal in April 2024, with a total of 32 complete responses collected. The survey consisted of questions categorized into three phases of laboratory practice: pre-examination (4 questions), examination (4 questions), and post-examination (5 questions). Each section addressed specific ethical considerations and practices within these phases, including issues related to sample collection, testing accuracy, result interpretation, and reporting. The responses were analyzed to identify trends, challenges, and areas where ethical standards in laboratory medicine could be improved. The findings highlight the need for greater awareness and training in ethical practices, with particular emphasis on improving consistency and transparency across all phases of laboratory work.