scholarly journals A Rare Disease of Familial Chylomicronemia Syndrome in a 20 Days Infant

2020 ◽  
Vol 15 (1) ◽  
pp. 107-109
Author(s):  
Nurun Nahar Fatema Begum ◽  
Mukta Sarker
Keyword(s):  
Genetic Disorders ◽  
Failure To Thrive ◽  
Autosomal Recessive Disorder ◽  
Armed Forces ◽  
Medical College ◽  
Eruptive Xanthomas ◽  
Dose Tablet ◽  
Very High ◽  
Deficient Activity ◽  
High Triglyceride

Familial chylomicronemia syndrome is a group of very rare genetic disorders. It is inherited as autosomal recessive disorder. Its estimated incidence is 1 in 1000000 populations, characterized by deficient activity of an enzyme lipoprotein lipase (LPL) or apo-protein C-II, resulting into severe fasting hypertriglyceridemia and massive accumulations of chylomicrons in plasma. LPL deficiency typically presents in childhood with failure to thrive, colicky abdominal pain, eruptive xanthomas, lipemiaretinalis, pancreatitis and hepatomegaly. We are reporting a rare case of familial chylomicronemia in a 20 days old child who was presented with pneumonia, his plasma incidentally found like milk during routine collection of his blood sample. As the child was only 20 days old with very high triglyceride level, so breast feeding continued and cocktail therapy with low dose Tablet Fenofibrate, Tablet Niacin, Tablet Atovastatin started after referral to paediatric cardiologist at 3 months of age. Journal of Armed Forces Medical College Bangladesh Vol.15 (1) 2019: 107-109

scholarly journals Genetic Disorders and Consanguinity: Focus on Bangladesh

2019 ◽  
Vol 13 (2) ◽  
pp. 59-63
Author(s):  
Md Shameem Yazdany
Keyword(s):  
Genetic Disorders ◽  
Health Sector ◽  
Recessive Gene ◽  
Armed Forces ◽  
Complete Recovery ◽  
Causative Factor ◽  
Consanguineous Marriage ◽  
Childhood Health ◽  
Medical College ◽  
The People

Genetic disorders are one of the major childhood health problems. Treatment and rehabilitation of children with genetic disorders are costly and complete recovery is usually impossible. Genetic disorders are far more common than is widely appreciated and represent only the tip of the iceberg. Consanguineous marriage increases the risk of mutated autosomal recessive gene expression and consequently increases the risk of inheriting genetic disorders among the offspring. The probability of inheriting genetic disorders depends on the closeness of the relationship between the parents. That’s why considerable attention has been attracted towards the consanguineous marriage as a causative factor of the genetic disorders. It was found that the rate of consanguinity is very high among the Muslim countries. Very limited data are available regarding the rate of consanguinity and prevalence of genetic disorders related to consanguinity in Bangladesh. Bangladesh has a lot of achievements in the health sector but still, sufficient initiative have not been taken to control the genetic disorders by informing, motivating and discouraging people in consanguineous marriage. Awareness of the people with premarital and prenatal screening is very important to reduce the incidence of genetic disorders. Journal of Armed Forces Medical College Bangladesh Vol.13(2) 2017: 59-63

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency

2020 ◽  
Vol 106 (1) ◽  
pp. e182-e191
Author(s):  
Christina Merakou ◽  
Irene Fylaktou ◽  
Amalia Sertedaki ◽  
Maria Dracopoulou ◽  
Antonis Voutetakis ◽  
...  
Keyword(s):  
Gene Sequencing ◽  
Failure To Thrive ◽  
In Silico Analysis ◽  
Autosomal Recessive Disorder ◽  
Molecular Study ◽  
Aldosterone Synthase ◽  
Salt Wasting ◽  
Pathogenic Variants ◽  
Novel Variants ◽  
Aldosterone Synthase Deficiency

Abstract Context Isolated congenital hypoaldosteronism presents in early infancy with symptoms including vomiting, severe dehydration, salt wasting, and failure to thrive. The main causes of this rare autosomal recessive disorder is pathogenic variants of the CYP11B2 gene leading to aldosterone synthase deficiency. Objective To investigate the presence of CYP11B2 pathogenic variants in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of aldosterone synthase deficiency. Design Clinical and molecular study. Setting Tertiary academic Children’s Hospital, Center for Rare Pediatric Endocrine Diseases. Patients and Methods Sixty-two patients (56 unrelated patients and 6 siblings), with hypoaldosteronism and their parents, underwent CYP11B2 gene sequencing after its selective amplification against the highly homologous CYP11B1 gene. In silico analysis of the identified novel variants was carried out to evaluate protein stability and potential pathogenicity. Results CYP11B2 gene sequencing revealed that 62 patients carried a total of 12 different pathogenic CYP11B2 gene variants, 6 of which are novel. Importantly, 96% of the 56 patients carried the previously reported p.T185I variant either in homozygosity or in compound heterozygosity with another variant. The 6 novel variants detected were: p.M1I, p.V129M, p.R141Q, p.A165T, p.R448C, and the donor splice site variant of intron 8, c.1398 + 1G > A. Conclusion Molecular diagnosis was achieved in 62 patients with aldosterone synthase deficiency, the largest cohort thus far reported. Six novel genetic variants were identified as possibly pathogenic, extending the spectrum of reported molecular defects of the CYP11B2 gene.

Normal Reference Values of Complete Blood Count in Healthy Adult Population of Pakistan; A Multicentre Study

2021 ◽  
Vol 15 (11) ◽  
pp. 3040-3042
Author(s):  
Neelam Mazhar ◽  
Sarah Rafi ◽  
Saima Farhan ◽  
Shazia Yaseen ◽  
Nisar Ahmed
Keyword(s):  
Reference Values ◽  
Blood Count ◽  
Blood Donors ◽  
Complete Blood Count ◽  
Hematological Parameters ◽  
Adult Population ◽  
Armed Forces ◽  
Reference Ranges ◽  
Medical College ◽  
Normal Reference

Aim: To establish the reference values of hematological parameters in blood donors of all the four provinces of Pakistan as a general population. Methods: This was a multicenter cross-sectional study conducted from Jan 2017-Oct 2017 in the blood bank and the Dept. of Haematology, The CH&ICH, Lahore, Fatimid Foundation, Karachi, Bolan medical college, Quetta, Armed Forces Institute of Transfusion, Rawalpindi & Ayub medical college, Abbottabad, KPK. Blood samples of 1060 male and female blood donors were collected from the blood banks of all the centers mentioned above. CBC and differential were performed using an automated hematology analyzer in the respective departments. Results: The mean and 95% reference values (2.5th-97.5th) for males WBC 7.752+4.506×109 cells/L, RBC 4.958 +1.331, HB 14.258 +3.423 g/dl, HCT 41.967 +16.345, MCV 84.584 +15.933, PLT 219.485 +197.331, LYM 3.346 +10.112, NEUT 6.843+23.557, MONO 0.811 +3.601, EO 0.327 +0.995. For females WBC 7.174+3.037, RBC4.567 +1.086, HB 12.972 +2.752, HCT39.647 +48.186, PLT 264.07+175.079, LYM 2.537+5.005, NEUT 4.769+11.314, MONO 0.460 +0.909, EO 0.188+0.39 Conclusion: The hematological profile of the population in all four provinces of Pakistan differed from the reports of other countries and the standard reference ranges described in the textbook. So, our own hematological parameters must be followed. More studies must be carried out on other age groups and even on adults to strengthen our results. Keywords: Normal reference values, Complete blood count, Healthy adults of Pakistan

scholarly journals Subtotal Gastrectomy for Atypical Carcinoid of Stomach– A Rare Tumour

2016 ◽  
Vol 12 (2) ◽  
pp. 145-148
Author(s):  
SM Shahadat Hossain ◽  
Md Mahbubur Rahman ◽  
Md Rayhan Mahmud ◽  
Farhana Israt Jahan
Keyword(s):  
Gastrointestinal Tract ◽  
Carcinoid Tumour ◽  
Subtotal Gastrectomy ◽  
Armed Forces ◽  
Gastric Carcinoid ◽  
Rare Tumour ◽  
Carcinoid Tumours ◽  
Medical College ◽  
Gastric Carcinoids ◽  
Gastrointestinal Carcinoid

The term carcinoid was first employed by Oberndorfer in 1907 to describe a group of tumours of the gastrointestinal tract that had a relatively indolent course and that were considered to be intermediate between adenoma and carcinoma in malignant potential. Gastrointestinal carcinoid tumours are a type of cancer that form in the lining of the gastrointestinal tract originating from entero-chromaffin like (ECL) cells. Gastric carcinoid tumours are rare tumors that develop within the gastric mucosa. They can present as an isolated lesion or there can be multiple lesions. The tumours can invade locally into deeper structures of the gastrointestinal tract (GIT) wall. Solitary gastric carcinoids have a greater chance for the development of malignancy and metastases as compared to multiple gastric carcinoids due to hypergastrinemia. A 60 years old man presented with abdominal pain, vomiting and weight loss and was found to have carcinoid tumour of stomach without classic carcinoid syndrome (CS). Despite advances in the understanding of patho-physiology of carcinoid tumour its complications remain enigmatic. Early, accurate diagnosis and aggressive treatment is recommended. Journal of Armed Forces Medical College Bangladesh Vol.12(2) 2016: 145-148

scholarly journals Prevalence of Metabolic Syndrome among Border Guard Bangladesh Personnel

2020 ◽  
Vol 14 (2) ◽  
pp. 97-100
Author(s):  
Md Abdul Wahab ◽  
Md Mustafizur Rahman ◽  
Md Abdur Razzak ◽  
Md Habibur Rahman ◽  
Mimi Parvin ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
International Diabetes Federation ◽  
Armed Forces ◽  
Cross Sectional Study ◽  
Age Group ◽  
Metabolic Abnormalities ◽  
Sectional Study ◽  
Ethnic Population ◽  
Cross Sectional ◽  
Medical College

Introduction: Metabolic syndrome (MetS) is a multifaceted syndrome comprises a cluster of metabolic abnormalities including hypertension, central obesity, insulin resistance, dyslipidemia, and is strongly associated with developing diabetes mellitus and cardiovascular diseases. Prevalence of MetS differs in different ethnic population by using different definition. Objectives: To determine the prevalence of the MetS and its component risk factors among Border Guard Bangladesh (BGB) personnel working in Chattagram Hill Tract (CHT). Materials & Methods: This descriptive cross-sectional study was conducted from October 2016 to February 2018 among 1455 male BGB personnel aged between 40 to 59 years and working in CHT of Bangladesh. Study subjects were selected at BGB hospital, Guimara, Khagrachari. The new International Diabetes Federation (IDF) guidelines were used to identify MetS. Detail history, clinical examination, anthropometry and blood pressure (BP) were measured and fasting plasma glucose (FPG) and lipid profile were assessed. Results: Among the 1455 respondents’ BMI, waist circumference, systolic and diastolic BP were found more than normal in 34.1, 37.7, 16.4% and 12.3% respectively. Biochemical parameters including FPG, TC, TG, and LDL-C was raised in 28.7%, 49.8%, 52.2% and 37.7% of respondents respectively. HDL-C was found decreased in 26.9% respondents. Age wise prevalence of MetS for age group 40-44, 45-49, 50-54 and 55- 59 years were found 21.3%, 21.7%, 24.1% and 26.1% of the respondents respectively. The overall prevalence of MetS was found 22.4%. Conclusion: The prevalence of the MetS in BGB personnel was found 22.4%. Appropriate measure should be taken to lower the MetS cases. Journal of Armed Forces Medical College Bangladesh Vol.14 (2) 2018: 97-100

scholarly journals Study of microbial flora in indwelling catheter, drains, CIVP lines and endotracheal tubes

2013 ◽  
Vol 3 (6) ◽  
pp. 469-471
Author(s):  
SB Pradhan ◽  
R Dhakhwa ◽  
CD Shrestha
Keyword(s):  
College Teaching ◽  
Routine Practice ◽  
Clinical Microbiology Laboratory ◽  
Infection Rates ◽  
Intravascular Catheter ◽  
Indwelling Catheter ◽  
Endotracheal Tubes ◽  
Medical College ◽  
Life Threatening ◽  
Very High

Background: The use of indwelling devices like Urinary catheter, Drain tubes, Central intravascular catheter, endotracheal tubes has become routine practice in the medical field. Localized or systematic infection are frequent complications associated with extensive use of these devices, requiring its removal or may even be associated with life threatening consequences. Materials and Methods: Microbiological study was carried out among all the indwelling device samples received from 20th April 2011 to 19th April 2012 at Clinical Microbiology Laboratory, Department of Pathology, Kathmandu Medical College Teaching Hospital. Results: Out of total 205 samples (125 Foley’s catheters, 31 drain tubes, 29 central intravascular catheter lines and 20 endotracheal tubes) received during this study period, 38.4% urinary catheters, 23.33% drain tubes, 6.9% central intravascular catheter lines and 40.0% endotracheal tubes were found to have significant growth. Escherichia coli and Klebsiella were found to be the commonest organisms. Conclusion: The infection rates of indwelling devices used for various reasons are found to be very high. These infections have increased the morbidity and mortality of the hospitalized patients and also increased the duration of hospital stay. Thus aseptic measurements during insertion of these devices periodic change of these devices may help to overcome these complications. DOI: http://dx.doi.org/10.3126/jpn.v3i6.8995   Journal of Pathology of Nepal (2013) Vol. 3, 469-471

scholarly journals WOUND INFECTION

2010 ◽  
Vol 17 (01) ◽  
pp. 64-67
Author(s):  
UZMA HUSSAIN ◽  
AFSHAN SAEED ◽  
FARZANA LATIF
Keyword(s):  
Cesarean Section ◽  
Wound Infection ◽  
Wound Dehiscence ◽  
Severe Anaemia ◽  
Medical College ◽  
Emergency Cesarean ◽  
Section Design ◽  
Elective Cesarean ◽  
Wound Discharge ◽  
Very High

Objective: To evaluate the effects of the anaemia in wound infection after cesarean section. Design: Prospective study. Setting:Department of Obstetric-Gynaecology in Sir Ganga Ram Hospital / Fatima Jinnah Medical College Lahore. Period: Sep 2008 to Sep 2009.Patients and Methods: The study comprises of 100 pregnant women with moderate to severe anaemia. Selected cases underwent cesareansection due to different indications. The rate and frequency of wound infection was observed in all these women. Results were analysed andtabulated. Results: 100 cases with moderate to severe anaemia who underwent cesarean section were included. Moderate aneamia wasrecognized in 55% of cases and 19% with severe anaemia. Wound discharge was seen in 44 % of cases and wound dehiscence was foundin 56 % cases. Culture was positive in 41 % patients and majority of these were unbooked. Non elective cesarean delivery was performed in99% of cases. Conclusion: The rate of wound infection was very high in moderate to severely anemic women who underwent non elective/ emergency cesarean section.

scholarly journals A study on Antimicrobial Resistance: recent trend in Armed Forces of Bangladesh

2015 ◽  
Vol 9 (2) ◽  
pp. 03-09
Author(s):  
Md Abul Kalam Azad ◽  
Zaheedur Rahman ◽  
Md Nurul Amin
Keyword(s):  
Antimicrobial Resistance ◽  
Recent Trend ◽  
Throat Swab ◽  
Multiple Drug Resistance ◽  
Armed Forces ◽  
Salmonella Typhi ◽  
Resistance Pattern ◽  
Multiple Drug ◽  
Medical College ◽  
Developed Nations

Introduction: Antimicrobial resistance has increased dramatically & to be a serious threat to the treatment of infectious disease on a global basis. As a result morbidity, mortality & economic burden of infections with multiple drug resistance organisms for which there are no effective therapies. Over use of antibiotics in developed nations of paradoxically both misuses of under use in developing nations have contributed to the burden. Objectives: The objective of the study is to identify common microorganisms and to assess their sensitivity to three selected antibiotics. Methods: This observational study was conducted in Armed Forces Institute of Pathology (AFIP), Dhaka, Bangladesh among samples of urine, blood, pus, sputum and throat swab. All of the samples of urine (173), Blood (31), pus (63), sputum (28) and throat swab (14) were tested for culture and sensitivity at AFIP over a period from January 2012 to February 2013. Selected antibiotics were ciprofloxacin, cephradine and cefixime. Results: Commonest organisms found in different samples were Escherichia coli in urine (57.8%), Salmonella typhi in blood (54.8%), Staphylococcus aureus in pus (42.9%), klebsiella in sputum (67.9%) and Streptococcus pyogens in throat swab 03 JAFMC Bangladesh. Vol 9, No 2 (December) 2013 (78.6%). In urine samples, microorganisms were found resistant to cephradine in 95% cases but sensitive to cefixime in 30.4% cases. Microorganisms in blood samples were sensitive to cefixime in 83.3% and Ciprofloxacin in 80.6% cases. Ciprofloxacin, cephradin and cefixime all three antibiotics encountered resistance in 63.5%, 82.5% and 75.8% samples of pus respectively. Among sputum samples organisms were sensitive to ciprofloxacin in 71.4% and cefixime in 64.3% cases whereas resistant to cephradin in 92.9% cases. In organisms of throat swab Cephradine Showed sensitivity in 71.4% cases but cefixime encountered resistance in 57.1% cases. Conclusion: The study reveals an alarming picture of antimicrobial resistance pattern in Bangladesh Armed Forces. DOI: http://dx.doi.org/10.3329/jafmc.v9i2.21818 Journal of Armed Forces Medical College Bangladesh Vol.9(2) 2013

scholarly journals Correlation of the Laboratory Findings with a Etiology of Patients Presenting with Fever followed by Altered Consciousness in a Teaching Hospital

1970 ◽  
Vol 18 (1) ◽  
pp. 25-29
Author(s):  
Amaresh Chandra Shaha ◽  
Manabendra Nath Nag ◽  
Arpita Deb ◽  
NC Nath
Keyword(s):  
Cerebrospinal Fluid ◽  
Altered Consciousness ◽  
Pyogenic Meningitis ◽  
Tubercular Meningitis ◽  
College Hospital ◽  
Laboratory Findings ◽  
Medical College ◽  
Group 2 ◽  
Medical Wards ◽  
Very High

Consecutive fifty subjects having fever with altered consciousness admitted into medical wards in Rangpur Medical College Hospital, Rangpur were selected to find out the aetiology and its correlation with laboratory findings of the subjects. Subjects having prolonged fever, (more than 21 days) pregnancy, trauma, drug intoxication, cerebrovascular disease and metabolic causes including liver diseases were excluded from the study. Study revealed that majority of the study subjects were below 39 years (76%) of age and most of them were male (80%). Predominant cases were found to be pyogenic meningitis (44%), followed by encephalitis (32%), cerebral malaria (20%) and tubercular meningitis (4%). Neutrophilic leucocytosis, high cerebrospinal fluid protein, very high cell count and low sugar were a common observation in pyogenic meningitis while very high erythrocytic sedimentation rate was the main findings in tubercular meningitis and high lymphocytic count was observed in encephalitis as compared to other. So it is concluded that subjects suffering from fever with altered consciousness are 1. Predominantly male of young age group. 2. pyogenic meningitis is a predominant cause. 3. Cerebrospinal fluid findings were observed to have usual findings in disease of pyogenic meningitis, encephalitis and tubercular meningitis.   doi: 10.3329/taj.v18i1.3300 TAJ 2005; 18(1): 25-29

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