Introduction: In Bangladesh among inherited genetic diseases, thalassaemias and haemoglobinopathies are common and cause significant morbidity and mortality and impose a heavy financial burden on our society. Through premarital testing it is possible to reduce the number of children affected with genetic or other blood transmitted diseases. Aim: This review aims to motivate the general populations and reanimate the interest of stakeholders involved in the management of inherited genetic disorders and put forward the recommendations and proposal for implementing premarital screening programmes in Bangladesh. Materials & Methods: Relevant literatures were retrieved from different journals and web pages to highlight the definition, advantages and importance of premarital screening, types of investigation in the screening programmes and system of implementing this programme. Discussion: Review of different literature indicates that premarital screening programme is a complex social, religious and moral issue generating legal concerns regarding the infringement of fundamental liberty, the right to marry and the implications of involuntary withdrawal of blood. In regions where inherited genetic disorders are high, knowledge and outcome of the diseases and uptake of voluntary counseling is low. This is probably because these disorders are greater in developing and under developed countries where literacy and level of understanding are low. Culture and individual attitudes also have a role in the success of testing. 103 JAFMC Bangladesh. Vol 10, No 1 (June) 2014 In Asia, voluntary premarital screening programmes began for inherited and sexually transmitted diseases in countries like China, Taiwan, Malaysia, India, Indonesia, Maldives, Singapore and Thailand but no data is available regarding premarital screening programmes in Pakistan, Nepal, Sri Lanka, Bhutan and Bangladesh. Conclusion: Paucity of resources and trained health professionals in the area of medical genetics are major impediments in implementing premarital screening programmes in Bangladesh. Besides, religious beliefs, cultural norms, social customs as well as illiteracy may be the other barriers in performing the premarital screening programmes in Bangladesh. But it is high time to undertake motivational programmes and pilot projects to implement the premarital screening programmes in order to reduce the inherited genetic disorders, especially thalassaemias and haemoglobinopathies. DOI: http://dx.doi.org/10.3329/jafmc.v10i1.22934 Journal of Armed Forces Medical College Bangladesh Vol.10(1) 2014
Serum lithium concentration is monitored to ensure patient's compliance and to avoid intoxication and thus it is a prerequisite for an individual's dose adjustment. An unavoidable error during lithium estimation in blood collected in 'red-top plastic vacutainer plus tube containing silica clot activator and silicone surfactant' by ISE appeared as a reality for a standard laboratory like AFIP. The error could not be detected even by proven internal and external QC. This cross-sectional study was carried out at AFIP Chemical Pathology Department from May' 2015 to July'2015 to find out the interference causing falsely elevated serum lithium concentration by ISE principle. Blood were collected from the 40 study subjects including 30 healthy volunteers, who never took Tab Lithium and 10 patients, who used to take Tab Lithium for bipolar mood disorder in both 'plain red-top plastic vacutainer tubes without additive' as well as 'plain red-top plastic vacutainer plus tube containing silica clot activator and silicone surfactant'. Lithium concentrations were estimated in both types of tubes by Ion-Selective Electrode (ISE) principle employing world class, USA manufactured analyzer NOVA-4 as well as by colorimetric method using Dade Dimension, Siemens. Serum lithium concentrations were undetectable for the 'lithium-free normal volunteers' in both types of tubes measured by colorimetry but in ISE principle it was undetectable when collected in plain test tube without additives but when collected in 'vacutainer plus tube containing silica clot activator and silicone surfactant' and measured by ISE technique, the mean serum lithium concentration was found to be 1.78 ±0.40 mmol/l. Besides, mean serum lithium concentration of 10 individuals taking Tab Lithium had no statistically significant difference while measured by ISE or colorimetry in 'vacutainer tubes without additive' and also in 'vacutainer plus tubes containing silica clot activator and silicone surfactant' measured by colorimetry. But, vacutainer plus tubes containing silica clot activator and silicone surfactant' while measured serum lithium concentration by ISE principle had significant (p <0.001) increase in mean concentration than others, as determined by one-way ANOVA and Post-hoc tests. This study demonstrates that positive interference; caused by silica clot activator and silicone surfactant of the collection tubes; increases measured concentration of lithium. This interference; being in the pre-analytic phase, cannot be detected by routinely performed laboratory quality control.Bangladesh J Med Biochem 2015; 8(2): 60-65
Introduction: Dyslipidemia has been noted to play an integral role in the pathogenesis and progression of micro and macrovascular complications in Diabetes Mellitus (DM) patients. Lipid profile is the indicators of dyslipidemia. Objectives: To evaluate the prevalence and pattern of dyslipidemia in type 2 DM patients. Materials and Methods: This cross sectional study was conducted at Armed Forces Institute of Pathology (AFIP) from November 2014 to October 2015. The study included 300 type 2 diabetic patients belonging to the age group 30-59 years. Personal data and history of co-existing medical conditions were collected by data collection sheet and analyzed. Results: Among 300 study subjects with type 2 DM the prevalence of dyslipidemia was 94% among them 19% had single dyslipidemia and 75% had multiple dyslipidemia. In this study, high level of total cholesterol (TC), triglycerides(TG) and Low Density Lipoprotein-Cholesterol (LDL-C) were found in 47.3%, 76.7% and 41.3% patients respectively. High Density Lipoprotein- Cholesterol (HDL-C) levels were found to be low in 60% patients. Conclusion: The study revealed that dyslipidemia is very common in type 2 diabetic patients and the most common abnormality observed was increased serum TG level followed by decreased HDL-C level. So, patients with type 2 DM should be followed up with serum lipid profile regularly. Journal of Armed Forces Medical College Bangladesh Vol.14 (2) 2018: 177-179
Van Wyk-Grumbach syndrome (VWGS) is characterized by juvenile hypothyroidism, delayed bone age, and precocious puberty with a complete reversal to the pre-pubertal state following thyroid hormone replacement therapy. In this study, a 7 years and 1 month old girl presented with precocity having premature menarche, short stature, constipation, delayed bone age and enlarged bilateral multicystic ovaries. She presented with acute abdomen due to torsion of left ovary and had to undergo left sided oophorectomy and right ovarian cystectomy. High serum TSH, low FT 4 with high FSH but low LH within pre-pubertal range suggestive of 'severe hypothyroidism with FSH dominant precocious pseudopuberty' confirmed the diagnosis of VWGS.
Summary:Many organizations recommend the use of equations that provide a rapid method of assessing glomerular filtration rate (GFR) to facilitate the detection, evaluation, and management of chronic kidney diseases. Indeed, many clinical laboratories already report estimated GFR (eGFR) values whenever the serum creatinine level is measured. To compare the predictive equations for the measurement of GFR in Bangladeshi population, we measured GFR by creatinine clearance rate (
Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme defect in man. Though G6PD deficiency affects every cell in the body, its primary effects are hematological. Objectives: The objectives of the study were to determine the G6PD enzyme concentration and deficiency states among the term newborns, to see the impact of the enzyme status with development of neonatal jaundice and to delineate any correlation of the G6PD with other hematological values. Materials and Method: Total 100 term newborns were enrolled in the study. Umbilical cord blood sample from the placental end were collected for G6PD enzyme assay, blood counts including reticulocyte count, blood indices and bilirubin estimation. Clinical and other relevant data were collected. Statistical analysis was done by using SPSS 19.0 version. Results: Overall G6PD activity was detected 9.86 ± 1.68 U/g Hb and no G6PD enzyme deficiency state was identified. There were no statistically significant differences in the hematological parameters and cord blood bilirubin concentration between male and females. But females have significantly higher G6PD enzyme concentration than males (p=0.002). There were no significant differences in the enzyme concentration in different gestational age groups. There was significant negative correlation between G6PD enzyme and hemoglobin levels, G6PD enzyme concentration with HCT and MCV values. Conclusion: This study could not identify any G6PD deficiency state. So further large scale community-based study is needed to validate this finding and also establish the normal G6PD enzyme concentration in the population of Bangladesh. Bangladesh J Child Health 2020; VOL 44 (1) :18-23
Cushing syndrome results from chronic exposure to excess cortisol. Nodular adrenal hyperplasia is usually bilateral and has only a few case reports of unilateral presentation. Biochemically it is presented as hyperaldosteronism or as Cushing’s syndrome. Here, we are reporting a 17-year-old female presenting with weight gain over 5 months and uncontrolled hypertension. Biochemically she was found to have diabetes mellitus, secondary hypothyroidism and hypogonadotrophic hypogonadism due to Cushing’s syndrome of adrenal origin. Unilateral adrenal adenoma/hyperplasia in right adrenal gland was evident by radiology. Histopathological examination was done after laparoscopic adrenalectomy showed nodular adrenocortical hyperplasia in right adrenal mass. Following surgery, clinical features of the patient improved notably. Cushing syndrome due to unilateral nodular adrenocortical hyperplasia is a rare entity. Biochemical evaluation of hypothalamo-pituitary-adrenal axis, radiological evidence and histopathology are the important armaments can guide to final diagnosis. BIRDEM Med J 2022; 12(1): 78-82
Introduction:Atherogenic index of plasma (AIP) is defined as log of TG to HDL-C ratio. People with high AIP have a higher risk for coronary heart disease (CHD) than those with low AIP. AIP is useful in predicting atherogenecity. Objectives: To determination of AIP among the study subjects and find out the prevalence of AIP among type 2 diabetes mellitus (DM) patients. Materials and Methods: This cross sectional study was conducted at Armed Forces Institute of Pathology (AFIP) from November 2014 to October 2015. The study included 300 type 2 DM patients belonging to the age group 30-60 years. Fasting plasma glucose (FPG), HDL-C, TG were estimated. The AIP was calculated as log (TG/HDL-C) using the Czech online calculatorof atherogenic risk. Personal data and history of co-existing medical conditions were collected by data collection sheet. Data were analyzed by SPSS version 18.0. Results: Among 300 study subjects the AIP were found in the range of “increased risk” in 298(99.3%) and “low risk” in 02(0.7%). In this study mean FPG was 9.81±3.08 mmol/L and mean AIP was 0.73 ± 0.23A and significant positive correlation between FPG and AIP (r = 0.123, p < 0.05) was observed. Conclusion: The study revealed that AIP is significantly higher in type 2 DM patients. So, patients with type 2 DM should be followed up with AIP regularly. JAFMC Bangladesh. Vol 15, No 2 (December) 2019: 204-205
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