Laboratory Aspects Research Articles

Ecological aspects of studying the thyroid function of the thyroid gland in women of reproductive age living in a region with iodine deficiency (Akhtynsky district, Republic of Dagestan, Russia)

Aim. To present epidemiological aspects of the study of thyroid function of the thyroid gland.The article presents the results of a clinical and laboratory examination and epidemiological aspects of studying the thyroid function of the thyroid gland in 120 women of reproductive age living in an area with iodine deficiency (Akhtynsky district, Republic of Dagestan – located at an altitude of 1.675 metres above sea level). The women were examined for thyroid diseases and for the presence of intrauterine infections: TORCH toxoplasmosis, ornithosis, rubella, cytomegalo‐ and herpesviruses.All the examined patients had thyroid diseases (the women are registered with an endocrinologist at an Endocrinological Dispensary). All women underwent correction of iodine deficiency in the form of iodine prophylaxis by taking medications containing a daily iodine requirement of up to 250 mcg to normalize thyroid function.Intrauterine infections (IUI) were found in 76 women (69 %. of the patients examined). Intrauterine infections of women registered in the women's clinic of the district hospital were also treated.

Diagnostic role of urine human epididymis protein 4 in ovarian cancer.

Ovarian cancer is the 8th most common malignancy in women and the deadliest gynecological cancer. Due to the non-specific symptoms and the lack of effective diagnostic methods, late diagnosis remains the main barrier for improving the poor prognosis. Human epididymis protein 4 (HE4) is a protein overexpressed in ovarian cancer, but not in healthy individuals or benign conditions. The aim of this review article is to evaluate the laboratory aspect and potential clinical application of urine HE4. The methodology is presented, together with discussion on preanalytical, analytical and postanalytical phase of HE4 detection using urine. Moreover, we present the diagnostic role of urine HE4 in differential diagnosis, chemotherapy response, detection of recurrence and detection of low-malignant potential tumors. It has been found that urine HE4 presents as a promising, non-invasive tumor marker for detection and monitoring of ovarian cancer. However, standardization of the HE4 detection process is needed prior to implementation in clinical diagnostics.

Thrombosis in Antiphospholipid Syndrome: Current Perspectives and Challenges in Laboratory Testing for Antiphospholipid Antibodies.

Antiphospholipid syndrome (APS) diagnosis hinges on identifying antiphospholipid antibodies (aPL). Currently, laboratory testing encompasses lupus anticoagulant (LA), anticardiolipin (aCL), and anti-β2-glycoprotein I antibodies (aβ2GPI) IgG or IgM, which are included in the APS classification criteria. All the assays needed to detect aPL antibodies have methodological concerns. LA testing remains challenging due to its complexity and susceptibility to interference from anticoagulant therapy. Solid phase assays for aCL and aβ2GPI exhibit discrepancies between different assays. Antibody profiles aid in identifying the patients at risk for thrombosis through integrated interpretation of all positive aPL tests. Antibodies targeting domain I of β2-glycoprotein and antiphosphatidylserine-prothrombin antibodies have been evaluated for their role in thrombotic APS but are not yet included in the APS criteria. Detecting these antibodies may help patients with incomplete antibody profiles and stratify the risk of APS patients. The added diagnostic value of other methodologies and measurements of other APS-associated antibodies are inconsistent. This manuscript describes laboratory parameters useful in the diagnosis of thrombotic APS and will concentrate on the laboratory aspects, clinical significance of assays, and interpretation of aPL results in the diagnosis of thrombotic APS.

Laboratory and physiological aspects of substitute metazoan models for in vivo pharmacotoxicological analysis

Laboratory and physiological aspects of substitute metazoan models for in vivo pharmacotoxicological analysis

A practical guide to therapeutic drug monitoring in busulfan: recommendations from the Pharmacist Committee of the European Society for Blood and Marrow Transplantation (EBMT).

Busulfan (Bu) is an important component of many conditioning regimens for allogeneic hematopoietic cell transplantation. The therapeutic window of Bu is well characterized, with strong associations between Bu exposure and the clinical outcome in adults (strongest evidence in myelo-ablative setting) and children (all settings). We provide an overview of the literature on Bu as well as a step-by-step guide to the implementation of Bu therapeutic drug monitoring (TDM). The guide covers the clinical, pharmacological, laboratory and administrative aspects of the procedure. Through this document, we aim to support centers in implementing TDM for Bu to further enhance the success rates of HCT and improve patient outcomes. The Pharmacist Committee of the European Society for Blood and Marrow Transplantation (EBMT) encourages all centers to perform TDM for Bu in the aforementioned indications.

Factors associated with progression and outcomes of primary biliary cholangitis: A cohort study, 2010-2019

Background: Primary biliary cholangitis (PBC) can impact both the quality of life and the survival of patients. The study aimed to determine the survival rate and associated variables in patients with PBC. Materials and Methods: This cohort research comprised 65 patients diagnosed with PBC who were admitted to the pathology section between January 2010 and December 2019. Survival was determined by reviewing hospital medical data and following up with the patients. The impact of demographic factors, clinical, laboratory, and histopathological aspects on patient survival time was investigated using Kaplan-Meier survival analysis and Cox regression. Results: The average period of follow-up was 6.25 years with a standard deviation of 3.2 years. In surviving patients, the baseline bilirubin level was 2.83, but in deceased or transplanted patients, it was 8.95 (P = 0.002). The baseline albumin level was 3.99 in surviving patients and 3.66 in deceased or transplanted patients (P = 0.024). The incidence of cirrhosis in those who survived was 1.8%, but in patients who died or underwent a transplant, it was 40%. Out of 65 cases, 3 patients (4.7%) died and 7 (10%) had liver transplants. Survival rates of patients vary based on factors such as jaundice (P = 0.002), weariness (P = 0.03), cirrhosis (P < 0.001), and vitiligo (P = 0.033). There were notable variations in the average Mayo score between the two groups of patients who had liver transplantation and survived, with scores of 7.21 and 5.61, respectively. Conclusion: The study found that aspartate aminotransferase and alanine aminotransferase levels, baseline and final bilirubin, albumin, antinuclear antibody, the presence of cirrhosis, and jaundice significantly influenced patient survival with PBC.

Laboratory Aspects of Using the Results of NT-Probnp Concentration Immunochemical Determination in the Management of Patients With Heart Failure: Support For Clinical Decision-Making

The burden of heart failure (HF) has been increasing worldwide in recent decades. Early diagnosis of HF based on the outpatient measurement of natriuretic peptide (NP) concentration will allow timely initiation of the treatment and reducing the incidence of adverse outcomes in HF. Unfortunately, the frequency of NP testing remains low worldwide. At the online expert meeting held on March 15, 2024, the features of the N-terminal pro-brain natriuretic peptide (NT-proBNP) test (Elecsys proBNP by Roche) were discussed along with the interpretation of test results and presentation of results in laboratory reports. The experts addressed the features of the Elecsys proBNP test in patients with suspected HF in various clinical scenarios (chronic and acute HF). The limits of clinical decision for the NT-proBNP test were established depending on the clinical scenario. Changes in the Elecsys proBNP test results depending on the comorbidities were addressed. The experts suggested ways to optimize the format of the Elecsys proBNP test result reports in the Russian Federation, which will accelerate the implementation of the test in clinical practice and optimize the management of HF patients.

Clinical, Laboratory Aspects and Management of Factor X Deficiency.

Coagulation factor X (FX), originally named Stuart-Prower factor, plays a pivotal role in the coagulation cascade, activating thrombin to promote platelet plug formation and prevent excess blood loss. Genetic variants in F10 may lead to FX deficiency and to impaired coagulation. FX variants are phenotypically classified as being type I, with the concomitant reduction of FX coagulant activity and FX antigen levels or type II, corresponding to a reduction in activity with normal antigen plasma levels. Patients affected with FX deficiency tend to be one of the most seriously affected among those with rare bleeding disorders. They show a variable bleeding tendency strongly associated with FX coagulant activity levels in plasma and may present, in the severe form of the deficiency, life-threatening symptoms such as gastrointestinal and umbilical stump bleeding and intracranial hemorrhages or central nervous system bleeding. Treatment of FX deficiency was originally based on the replacement of the missing factor using fresh frozen plasma, cryoprecipitate and prothrombin complex concentrates; however, a plasma-derived concentrate, shown to be safe and effective in clinical trials, is now available. In addition, novel nonreplacement therapy such as small interference RNA, gene therapy, drug repurposing, and gene editing may also represent novel therapeutic approaches for FX deficiency, but further, much focused studies are needed before considering this emerging therapy in such patients.

Clinical, Laboratory, Molecular, and Reproductive Aspects of Combined Deficiency of Factors V and VIII.

Congenital combined deficiency of factor V (FV) and factor VIII (FVIII; F5F8D, OMIM 227300) is a rare hereditary coagulopathy and accounts for approximately 3% of cases of rare coagulation disorders. The prevalence of this disease in the general population is estimated to be 1:1,000,000 and is significantly higher in regions where consanguineous marriages are permitted, such as the Mideast and South Asia. The disease has an autosomal recessive mode of inheritance and therefore occurs with an equal incidence among males and females. Heterozygous mutation carriers usually do not have clinical manifestations. The molecular basis of this disease differs from that of stand-alone congenital deficiencies of FVIII and FV. F5F8D is caused by mutations in either LMAN1 or MCFD2, which encode components of a cargo receptor complex for endoplasmic reticulum to Golgi transport of FV and FVIII, leading to defects in an intracellular transport pathway shared by these two coagulation factors. Congenital combined deficiency of FV and FVIII is characterized by decreased activities of both FV and FVIII in plasma, usually to 5 to 30% of normal. Clinical manifestations in most cases are represented by mild or moderate hemorrhagic syndrome. The simultaneous decreases of two coagulation factors present complications in the diagnosis and management of the disease. In female patients, the disease requires a special approach for family planning, pregnancy management, and parturition. This review summarizes recent progress in clinical, laboratory, and molecular understanding of this disorder.

Clinical, Laboratory, and Molecular Aspects of Factor VII Deficiency.

Congenital factor VII (FVII) deficiency, the most frequent among the recessively inherited disorders of blood coagulation, is characterized by a wide range of symptoms, from mild mucosal bleeds to life-threatening intracranial hemorrhage. Complete FVII deficiency may cause perinatal lethality. Clinically relevant thresholds of plasma levels are still uncertain, and modest differences in low FVII levels are associated with large differences in clinical phenotypes. Activated FVII (FVIIa) expresses its physiological protease activity only in a complex with tissue factor (TF), which triggers clotting at a very low concentration. Knowledge of the FVIIa-TF complex helps to interpret the clinical findings associated with low FVII activity as compared with other rare bleeding disorders and permits effective management, including prophylaxis, with recombinant FVIIa, which, however, displays a short half-life. Newly devised substitutive and nonsubstitutive treatments, characterized by extended half-life properties, may further improve the quality of life of patients. Genetic diagnosis has been performed in thousands of patients with FVII deficiency, and among the heterogeneous F7 mutations, mostly missense changes, several recurrent variants show geographical distribution and identity by descent. In the general population, common F7 polymorphisms explain a large proportion of FVII level variance in plasma through FVII-lowering effects. Their combination with pathogenic variants may impact on the frequent detection of FVII coagulant levels lower than normal, as well as on mild bleeding conditions. In the twenties of this century, 70 years after the first report of FVII deficiency, more than 200 studies/reports about FVII/FVII deficiency have been published, with thousands of FVII-deficient patients characterized all over the world.

Clinical, Laboratory, and Molecular Aspects of Factor V Deficiency.

Factor V (FV) is a glycoprotein that plays a pivotal role in hemostasis, being involved in coagulant and anticoagulant pathways. Congenital FV deficiency is a rare bleeding disorder with an incidence of 1 per million live births, considering the most severe homozygous form. FV deficiency is diagnosed using routine coagulation tests and FV activity assays. Several mutations, including missense, nonsense, and frameshift, have been detected in the F5 gene. Clinical symptoms are variable, ranging from mild ecchymoses and mucosal bleeding to life-threatening intracranial hemorrhage. The mainstay of treatment includes fresh-frozen plasma, preferentially virus-inactivated. In this narrative review, we provide an update of the main laboratory, molecular, clinical, and therapeutic features of inherited FV deficiency.

Beyond the Bite: Detailed findings on Chikungunya and Dengue co-detection in Punjab, North India - clinical insights and diagnostic challenges.

The co-circulation of Chikungunya virus (CHIKV) and Dengue virus (DENV) in India poses a challenge for the diagnosing clinician, as they share similar clinical signs and symptoms and geographical distribution. Both arthropod-borne viruses are maintained in the environment by the Aedes mosquito, commonly found in tropical countries including India. Here we aim to investigate the clinical and laboratory aspects of Chikungunya/Dengue suspected cases in Punjab, India during 2021-2022, focusing on the differential diagnosis of Dengue. All suspected cases were submitted to serological differential diagnosis approaches to arboviruses like Chikungunya and Dengue. For the detection of Chikungunya Infection, CHIK IgM Capture ELISA was employed. Whereas, for Dengue NS1 antigen ELISA and IgM Capture ELISA assays were employed. A total of 370 cases suspected of arboviral infection were investigated and 38.3% (142/370) were confirmed as Chikungunya. Chikungunya cases were slightly more prevalent in males (54%) and the most frequently affected age group was adults between 16 and 30 years old (45.7%). Polyarthralgia affected 79.5% of patients, 63.3% exhibited headache and 50% presented with retro-orbital pain. 28.9% (107/370) had serological evidence of DENV exposure by detection of specific anti-DENV IgM or NS1 and 9.1% (34/370) cases of co-detection of Chikungunya and Dengue were reported. Urban populations had a higher infection rate of co-detection of Chikungunya and Dengue than rural populations with 83% versus 17%, respectively. Despite an initial clinical diagnosis of Dengue, most patients with fever and arthralgia were serologically confirmed as Chikungunya cases, with a notable prevalence of CHIKV/DENV co-detection. Strengthening differential diagnosis of circulating arboviruses is crucial for improving patient care and enhancing vector control and environmental management strategies.

Clinical, Laboratory, and Molecular Aspects of Congenital Fibrinogen Disorders.

Congenital fibrinogen disorders (CFDs) include afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. The fibrinogen levels, the clinical features, and the genotype define several sub-types, each with specific biological and clinical issues. The diagnosis of CFDs is based on the measurement of activity and antigen fibrinogen levels as well as on the genotype. While relatively easy in quantitative fibrinogen disorders, the diagnosis can be more challenging in qualitative fibrinogen disorders depending on the reagents and methods used, and the underlying fibrinogen variants. Overall, quantitative and qualitative fibrinogen defects lead to a decrease in clottability, and usually in a bleeding tendency. The severity of the bleeding phenotype is moreover related to the concentration of fibrinogen. Paradoxically, patients with CFDs are also at risk of thrombotic events. The impact of the causative mutation on the structure and the fibrinogen level is one of the determinants of the thrombotic profile. Given the major role of fibrinogen in pregnancy, women with CFDs are particularly at risk of obstetrical adverse outcomes. The study of the fibrin clot properties can help to define the impact of fibrinogen disorders on the fibrin network. The development of next generation sequencing now allows the identification of genetic modifiers able to influence the global hemostasis balance in CFDs. Their integration in the assessment of the patient risk on an individual scale is an important step toward precision medicine in patients with such a heterogeneous clinical course.

Curriculum Implementation Index for Geography Learning in East Java, Indonesia

Curriculum changes often occur in Indonesia. However, studies regarding the gap between curriculum planning and implementation are still very limited. Therefore, this study aimed to analyze the Curriculum Implementation Index for Geography Learning in East Java. In this study, we used a curriculum implementation index for geography subjects. This study used purposive sampling with several considerations, such as the region distribution of geography teachers and school accreditation. The number of respondents is determined by selecting the person directly related to geography learning and its relation to curriculum implementation. We observed 30 geography teachers to determine curriculum implementation. The curriculum implementation index was used to evaluate consistency between curriculum planning and implementation, as indicated by teachers’ activities and several concepts in geography learning. The results show that the readiness of teachers to implement the curriculum in the laboratory, literature, and media aspects is in the low category. This is indicated by a laboratory index of 1.03, a literature index of 1.58, and a media index of 1.87. This low index means that geography learning does not meet the 2013 curriculum standards, especially in physical geography material, which needs laboratories and media to explain concrete concepts in geography learning. Implementing the 2013 curriculum in geography learning has not met the characteristics of the concrete idea of geography learning, which requires visualization for physical and environmental aspects.Keywords: Curriculum Implementation; Geography Learning; Index; East Java

A Retrospective Comparison of Clinical and Laboratory Aspects of Patients With COVID-19-Related Acute Respiratory Distress Syndrome (ARDS) and Non-COVID-19-Related ARDS.

This study investigated demographic characteristics, hemodynamic values, respiratory datas, laboratory values ​​such as biochemistry and blood gas, and treatment approaches of coronavirus disease 2019 (COVID-19)-related and non-COVID-19-related acute respiratory distress syndrome (ARDS) patients hospitalized in the intensive care unit (ICU). Determining the differences and similarities between COVID-19-related ARDS (CARDS) patients and non-COVID-19-related ARDS (NCARDS) patients will be useful to better understand these two diseases. A total of 32 NCARDS patients who were followed and treated in the ICU for various reasons between January 2015 and December 2020 and 32 CARDS patients who were followed and treated in the ICU for various reasons between March 2020 and December 2020 were examined retrospectively. Age, gender, comorbidities, Glasgow Coma Scale (GCS), Acute Physiology and Chronic Health Evaluation (APACHE) II Score, blood pressure, heart rate, saturation, laboratory results, arterial blood gas (ABG) values, length of stay in the ICU, intubation, the number of days till the patient was extubated, the treatments applied, admission to the service, and mortality were evaluated. In the comparison between the two groups, the demographic data of the patients, the number of days intubated and extubated, APACHE II scores, and ICU length of stay were not statistically different. Values of positive end-expiratory pressure (PEEP), first hospitalization GCS, first hospitalization hemoglobin (Hgb), albumin at first admission, alanine aminotransferase (ALT) at first admission, and steroid use were found to be significantly different in patients with CARDS (p < 0.001). The median of PEEP values (p = 0.04), first admission GCS values (p = 0.04), first admission Hgb values (p = 0.005), albumin values at the first admission (p = 0.03), ALT values (p = 0.03), and the rate of steroid use (p = 0.001) of CARDS patients were significantly higher than those of NCARDS patients. The median of the first hospitalization heart rate values (p = 0.009), first hospitalization saturation values (p = 0.001), and first admission neutrophil values (p = 0.03) in NCARDS patients were significantly higher than that of CARDS patients. There was no significant difference between the two groups in terms of mortality, sedation use, inotropic support, C-reactive protein (CRP), and procalcitonin values. CARDS and NCARDS have clinical and laboratory similarities and differences. Therefore, there should be differences in our follow-up and treatment approach to these two disease groups.

Coagulopathy in CAR-T: Critical concern or mere blip?

Despite Peng and colleagues providing an extensive review of the clinical and laboratory aspects of CAR-T-associated coagulopathy, the current literature often lacks specificity in nomenclature and gradings, and the clinical implications of coagulopathy may remain unclear. Clear recommendations on stratification and prophylaxis are still required to standardize the clinical approach to this topic. Commentary on: Peng etal. Coagulation abnormalities associated with CAR-T therapy in hematological malignancies: A review. Br J Haematol 2024;205:420-428.

Developing Environment Geography Learning Through Machine Learning Media and Its Application at Rural-Urban School

Environment geography has strong characteristics in combining classroom learning and in the field. Currently, machine learning development were designed to help several problem particularly in education. This study aims to evaluate the quality of Geographic Information System based machine in rural and urban school. Moreover, we also measured effect of GIS based machine learning towards learning outcome. We used quasi-experimental design to ensure the effect of GIS based machine learning media towards learning outcome. Moreover, we also used curriculum implementation index to ensure current curriculum implementation by teacher. Students were divided into 3 groups (2 experimental groups and 1 control group). The experimental group was treated by applying a guided inquiry model through GIS based machine learning media while the control group was treated by conventional models. The results show that the quality of learning by utilizing Geographic Information Systems is remain low which is indicated by low score at laboratory and media. However, in general curriculum implementation index showed moderate score 6.8, respectively. Moreover, results of quasi experiment design showed that GIS based machine learning has significant effect on students’ learning outcome which is represented by t-test score at 0.00, respectively. GIS based learning were able to enhance students’ learning outcome, meanwhile at current condition we found low index for laboratory and media aspect both in rural and urban school.

Advances in Human Leukocyte Antigen Testing Technologies and Management Strategies for Platelet Transfusion Refractoriness.

The blood bank is often consulted for transfusion support of patients with suspected platelet transfusion refractoriness (PTR). The workup is complex because testing includes specialized assays that are uncommonly ordered with limited availability. Add to this the variety of possible products-crossmatched platelets, human leukocyte antigen (HLA)-matched platelets, HLA antigen-negative platelets-and the approach to PTR can be overwhelming. Moreover, most literature on the subject is published in transfusion medicine journals aimed at transfusion medicine physicians and blood bank specialists in academic settings. Resources tailored to community hospital blood banks are lacking. To provide pathologists who may not have subspecialized training in transfusion medicine and who direct blood banks algorithmic workflows based on clinical scenario and test availability to provide appropriate transfusion support for patients with PTR. This review is a comprehensive overview of terminology, HLA testing procedures, interpretations, and practical recommendations for managing PTR in various scenarios based on expert opinion as well as relevant medical literature published from 2007 to 2022. Consultation on PTR is complicated and encompasses many clinical and laboratory aspects. The lack of guidelines derived from high-quality prospective studies poses challenges in the workup and management of PTR. Hindering the process further are limited test availability, unfamiliarity with the technical assays, and the various specialized platelet products. The clinical evaluation algorithm presented herein along with the workflow pathways offer pathologists user-friendly and best-practice guidelines with different options based on the clinical scenario and the tests available.

The 2023 Dengue Outbreak in Bangladesh: Exploring the Epidemiology in Hospitalized Patients.

For the past two decades, Bangladesh has faced recurrent dengue outbreaks, with the most recent occurring in 2023. We investigated the socioeconomic, clinical, and laboratory aspects of patients diagnosed with dengue during this outbreak. This observational study was conducted from July to September 2023 at Dhaka Medical College Hospital and Chittagong Medical College Hospital, and included 450 confirmed cases of dengue. Sociodemographic information was collected via face-to-face interviews, clinical examinations, and laboratory testing, which was done within 24 hours of admission. Dengue severity was classified according to the 2009 WHO dengue guidelines. Notably, 17% of patients experienced severe dengue, and 89% of those with nonsevere cases exhibited at least one warning sign. Most patients were young adults (mean age, 33 years), with a nearly equal male-to-female ratio. Common clinical presentations included fever (95%), myalgia (62%), and headache (58%), whereas warning signs such as vomiting (54%) and abdominal pain (39%) were prevalent. Plasma leakage indicators, including ascites, pleural effusion, and edema, were found predominantly in severe cases. Laboratory findings revealed leukopenia, thrombocytopenia, and elevated hepatic enzymes (alanine aminotransferase and aspartate aminotransferase) in nearly half the patients. An elevated hematocrit level was associated with severe dengue. We report that a substantial number of patients developed severe dengue during the epidemic in 2023, and provide detailed clinical-epidemiological profiles of the patients, offering valuable insight into management of dengue cases.

The clinical application and laboratory management of molecular genetic diagnosis in children's hospital

AbstractBackgroundMolecular diagnostic technology is the foundation of precision medicine, which has the advantages of good specificity, high sensitivity, strong targeting, rapiddiagnosis, etc. It has a wide range of applications in the field of pediatrics. However, molecular diagnostic technology is characterized by complicated experimental operation, high difficulty in data analysis and interpretation, in consistent standards among laboratories, and difficult standardization of technical processes. Enhancing the application value of molecular diagnostic technology in pediatrics and promoting the high‐quality development of the discipline requires careful consideration by relevant management and professionals.MethodsThis study firstly outlines the development history of molecular diagnostic technology. Then, it analyzes the application of molecular diagnostic technology in the field of pediatrics. Finally, it explores the countermeasures for the management of molecular diagnostic laboratories.ResultsThis study highlights the importance of molecular diagnostic technology in providing information and decision‐making basis for disease prevention, prediction,diagnosis, treatment and regression. It has a wide range of applications in the molecular diagnosis of pediatric hereditary diseases, malignant tumors and infectious diseases. In addition, the countermeasures for the management of molecular diagnostic laboratories are proposed from the five aspects of laboratory, personnel team construction, standardized management,multidisciplinary cross‐discipline, research and translation, safety managementand ethical supervision, and management upgrading and modernization.ConclusionsMolecular diagnostic technology, as the basis of precision medicine, has become one of the important frontier fields in the development of contemporary pediatric medicine. Enhanced laboratory capacity in molecular diagnostic techniques can improve outcomes in the prevention, prediction, diagnosis, treatment, prognosis and research of pediatricdiseases, and lay the groundwork for child healthcare.