Clinicopathological characteristics of nasal polyps with chronic sinusitis

Objective: To evaluate the clinicopathological characteristics of nasal polyps associated with chronic sinusitis in polypectomy specimens

Materials and Methods: A total of 78 cases clinically presenting with signs and symptoms of chronic sinusitis with nasal polyps were studied over a period of 2 years

Results: Out of 78 cases 57 were non-neoplastic and 21 were neoplastic polyps, out of these only two cases were malignant. Non neoplastic polyps were bilateral in 37 cases and unilateral in 30. Majority among non neoplastic category were of inflammatory polyps [53.73%]. Other types included allergic 26.86%, fungal infection with polyp 14.92% and lymphocytic category 4.47%. Majority of the cases that is 93.58%, including all types of polyps presented with nasal obstruction and signs and symptoms of chronic sinusitis

Conclusion: Nasal polyps with chronic sinusitis diagnosed clinically are not always non-neoplastic in nature. Hence, histopathological evaluation in all such cases is essential to diagnose both benign and malignant masses

Frequency of janus associated kinase 2 [V617F] mutation in patients of polycythemia vera

To determine the frequency of Janus associated kinase 2 [JAK2] mutation in patients of polycythemia vera [PV]. Descriptive cross-sectional. Haematology Department, Armed Forces Institute of Pathology [AFIP], Rawalpindi, from January 2008 to December 2009. Forty-six consecutive patients of PV diagnosed by the conventional haematological criteria were included in the study. Blood samples of all patients were screened for G-T point mutation [V617F] in the JAK2 gene on chromosome 9 by an allele specific polymerase chain reaction [PCR]. JAK2 V617F mutation was found in 43 out of 46 patients [93.5%] with PV. Among them, 30 were males [65.2%] and 16 were females [34.8%]. Mean TLC in patients with PV was 16.5 +/- 9.1 x 109/L, mean haemoglobin [Hb] was 17.8 +/- 2.0 g/dl, mean platelet count was 531 +/- 261 x 109/L, mean PCV was 57.9 +/- 6.3 l/l, mean MCV was 78.8 +/- 11.0 fl and mean MCH was 24.4 +/- 4.8 pg. Peripheral blood mutation screening for JAK2 V617F can be incorporated into the initial work up of patients suspected to have polycythemia as this mutation is present in majority of such patients

Cross Sectional Study to Assess the Spectrum of Inherited Thrombophilia in Adult [20 To 50 Years of Age]

OBJECTIVES: The aims and objectives of the study were to identify the patients with hereditary predisposition for thromboembolism and to assess the distribution of natural anticoagulants deficient in such patients

METHODS: It was a descriptive cross sectional study. A screening test ProC Global was carried out to detect deficiency of protein C or S and then susceptibility of protein C and protein S assays were carried out on the positive cases. The level of antithrombin and the screening test for factor V Leiden were carried out separately

RESULTS: A total of 264 patients were referred for ProC Global out of which 25 [39.0 %] were positive

The protein C was deficient in 3 patients detected by protein C assay and no patient was deficient in protein S. Antithrombin deficiency was detected in 16 out of 190 [8.4 %] patients and screening test for factor V Leiden was positive in three out of 30 [10 %] cases

CONCLUSION: Inherited thrombophilia is common in patients having a positive history of arterial or venous thrombosis

Variation in reference values of hematological parameters between regional and international literature amongst the neonates

Objectives: to assess the variation in reference values of Hematological parameters i.e Hemoglobin [Hb], Total Leucocyte Count [TLC], Red Blood Cells [RBC] and Platelet Counts [PLT] in neonates of Rawalpindi and to compare with the Western literature

Subjects and methods: it was a descriptive study carried out at Hematology department of Armed Forces Institute of Pathology [AFIP], Rawalpindi. The duration of study was 6 months and non-probability sampling was adopted for consecutively selected 400 neonates. The sampling was done from MH, CMH, HFH and SBBH, Rawalpindi the blood samples were analyzed using Sysmex Kx-21 automated hematology analyzer for complete blood counts i.e Hb, TLC, RBC and PLT

Results: the mean reference values of RBC is 4.931012/l [SD= 0.54], TLC is 16 109 / l [SD=5.35] and Platelet Counts is 258.499109/l [SD=70.5]. These values were found to have higher values when compared to the Western literature. However, the reference value of Hb is 14g/dl [SD=2.5] was found to have lower values on comparison with the Western literature i.e 16.89 g/dl [SD=1.92]. The mean reference value of RBC according to Western study is 4.21012/l [SD=1.2], TLC is 12 109 / l [SD=7] and Platelet Counts is 200109/l [SD=50]

Conclusions: the reference values of hematological parameters in neonates are different from those implemented in our country [derived from the Western studies]. It is concluded that various maternal environmental, nutritional, ethnic, socioeconomic and cultural factors do affect the values of hematological parameter in neonate

Reference ranges of prothombin time and activated partial thomboplastin time in healthy infant [< 1 year]

Objective: to determine the reference values of PT and APTT amongst the healthy infants of < 1 year of age

Subjects and methods: it was a descriptive cross sectional study carried out at Hematology department of Armed Forces Institute of Pathology [AFIP], Rawalpindi. The Study duration was1 year and Non-probability convenience sampling was adopted for 2000 blood samples. The Sampling areas were MH, CMH, HFH and SBBH, Rawalpindi. The Data analysis was done by SPSS version 15. Mean, SD and percentages were the quantitative and qualitative variables used for statistical analysis. The PT value for clot formation was detected by the addition of thromboplastin reagent to plasma sample. While APTT value for clot formation was extracted by the addition of equal volume of phospholipid reagent and Kaolin suspension

Results: the mean PT value amongst males and female until 9 month of age has shown no significant difference. While at age 1year females have higher PT values i.e 15.13 sec. [SD=2.25] when compared to males i.e 14.22 sec. [SD=0.63]. However qualitative analysis has shown that 12- 15sec.was the frequently observed range in 95.15% [n=1903] infants. The mean APTT value was found to have same mean values for males and females. However, qualitative analysis has shown that 32-35 sec was the frequently observed range in 85% [n=1700] infants

Conclusion: the mean values of PT and APTT are almost same when compared to the adult values. They are not affected by the growing ages of an infant

Evaluation of Pro-C Global for identification of defects in protein c/s anticoagulant pathway

Detection of protein C and S deficiency forms a major investigation in the laboratory evaluation of thrombophilia screening. It has key role in the diagnosis of protein C and S deficiency. The objective of this study is to determine the utility of ProC Global as a screening test for identifying the defects of protein C and S anticoagulant pathways. Two Hundred patients with venous thromboembolism were studied at the Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, from October 2004 to March 2006. ProC Global test [Dade Behring Diagnostics] was performed and was followed up by protein C and S assays. ProC Global is an activated partial thromboplastin time based assay in which Protac [snake venom from Aghistroden contortrix] is used for activation of the endogenous protein C of the plasma sample. The protein C activation time in the presence of the activator was set in relation to a parallel determination of PCAT/O with addition of a buffer instead of activator reagent. The ratio PCAT: PCAT/O was transformed in normalized ratio by relating them to a calibrator. Control plasma for normal range and ProC control plasma for pathological range [Dade Behring Diagnostics] were assayed in each run for quality control. A total of 200 patients, 132 [66%] males and 68 [34%] females with age ranging from 1 to 68 years were studied. ProC Global was positive in 29/200 [14.5%] patients. ProC Global was found to be 86% sensitive, 94% specific and its overall efficiency turned out to be 94%. Pro-C Global can be used effectively as a screening test to detect abnormalities in protein C and S anticoagulant pathways

Frequency of bleeding disorders diagnosed at armed forces institute of pathology Rawalpindi

To determine the frequency of bleeding disorders diagnosed at Armed Forces Institute of Pathology, Rawalpindi [AFIP Rwp]. Descriptive study. Department of Hematology, AFIP Rwp from January 2006 to June 2009. A total of 1836 patients of bleeding diathesis were included in the study. Hess test was done to investigate the vascular defects. Bleeding Time [BT] was done to screen platelet function defects. The 'clotting screen' and mixing studies were done to detect coagulation protein defects. Clot solubility test was performed to screen factor XIII deficiency. Out of 1836 patietns of bleeding diathesis 435 [23.7%] were diagnosed as having haemostatic defects. Out of these 435 patients 273 [62.8%] had coagulation factor deficiency, 81 [18.6%] had platelet function defects and 81 [18.6%] had vWF deficiency. Among the 273 coagulation factor deficiency patients, factor VIII deficiency was in 121 [44.3%], factor IX deficiency in 32 [11.7%], factor V deficiency in 18 [6.6%], factor XIII deficiency in 15 [5.5%], factor VII deficiency in 12 [4.4%], factor X deficiency in 9 [3.3%], factor I deficiency in 8 [2.9%] and factor II deficiency was in 3 [1.1%]. Multiple factor deficiency was 55 [20.1%]. No defects of vasculature were identified. Coagulation factor deficiencies, with factor VII deficiency being the commonest are the most frequent bleeding disorders. Platelet function defects and vWF deficiency also comprise significant proportion of the bleeding disorders

Relative protection from ischaemic heart disease in beta-thalassaemia carriers

To compare the frequency of beta thalassaemia trait in individuals with Ischaemic Heart Disease [IHD] and a control population without IHD. Case control study. Department of Haematology, Armed Forces Institute of Pathology [AFIP], Rawalpindi, from September 2007 to May 2009. Using non-probability consecutive sampling, a total of 544 subjects were selected, including 272 IHD patients and an equal number of age and gender matched normal controls. The subjects were tested for the presence of beta-thalassaemia trait by performing their blood counts, haemoglobin electrophoresis and Haemoglobin A2 [HbA2] estimation. Proportions were compared using chi-square test. Odds ratio was also calculated. The frequency of beta-thalassaemia trait was determined in IHD patients and was compared to the frequency in normal Pakistani population. Six out of the 272 control subjects [2.2%] had beta-thalassaemia trait and one of the control subject had Haemoglobin D trait. In contrast, none of the 272 IHD patients had beta-thalassaemia trait. The calculated odds ratio was less than 1, which shows a significant negative association of beta-thalassaemia trait with IHD. The difference in the frequency of beta-thalassaemia trait in the two groups was statistically significant [p=0.033]. The results suggest that betaeta-thalassaemia carriers have some protection against IHD, though it is not an absolute cardio protection due to the role of other risk factors in IHD. This beneficial information may be communicated to the concerned individuals in their counselling sessions and as part of general awareness on thalassaemia

Falciparum malaria in patients with beta thalassaemia trait

Thalasaemia is the most common genetic disorder world wide and approximately 3% of the world's population carries beta thalassaemia genes. Such high prevalence is thought to be maintained by protection of beta thalassaemia heterozygotes from malaria. This mechanism of natural selection gained popularity because of the similarities between population distribution of malaria and thalassaemia. However, the protection against malaria is not absolute. To study the association of beta thalassaemia trait and falciparum malaria. Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi. Patients of falciparum malaria with hypochromic microcytic red cell indices were studied. Haemoglobin electrophoresis was performed on cellulose acetate strip at pH 8.9 and Haemoglobin A2 estimation was done by elution method. Mutations for beta thalassaemia were determined by Amplification Refractory Mutation System [ARMS] Polymerase chain reaction [PCR]. Six patients of Falciparum malaria showed hypochromic microcytic red cell indices with a mean haemoglobin of 10.8 g/dl [SD 1.9], mean MCV of 61.0 fl [SD 6.44] and mean MCH of 19.9 pg [SD 2.61]. Their haemoglobin electrophoresis revealed Hb A2 more than 3.5%. PCR for thalassaemia mutations showed frame shift 8-9 mutation in five patients and one patient had frame shift 41-42 mutation

JAK2 mutation and myeloproliferative disorders in Pakis

To study the haematological features and JAK2 mutation in Pakistani patients of myeloproliferative disorders. Descriptive cross sectional. Department of Heamatology, Armed Forces Institute of Pathology, Rawalpindi from Jan 2004 to Jan 2007. Forty seven consecutive patients of myeloproliferative disorders [MPD] diagnosed by the conventional haematological criteria were included in the study. The patients on treatment were excluded. Age, sex, splenic enlargement, blood complete counts and bone marrow examination findings were recorded. All patients were screened for G-T Point mutation [V617F] in the JAK2 gene on chromosome 9 by an allele specific PCR Out of the 47 MPD patients, 17 [36%] had polycythaemia rubra vera [PRV], 7 [15%] had essential thrombocythaemia [ET] and 18 [38%] had idiopathic myelofibrosis [MF]. JAK2 positive was seen in 37/47 [79%] patients including 17/17 [100%] in PRV, 4/7 [57%] in ET and 13/18 [72%] in IMF. MPDs are an important group of haematology disorders in Pakistan. Vast majority of these disorders [79%] showed mutation in the JAK2 gene. JAK2 mutation analysis is especially useful in the diagnosis of polycythaemia vera where it was found in 100% of the cases