Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab.

Objective: The aim of this study was to determine frequency of secondary modifiers in non-transfusion dependent thalassemia. Methods: This descriptive cross sectional study was done at Fauji Foundation Hospital Islamabad. Seventy diagnosed patients of thalassemia intermedia were included. Deoxyribonucleic acid (DNA) was extracted using Chelex method. The Xmn-1 and BCL11A polymorphisms were analyzed by Amplification Refractory Mutation System (ARMS) and Restriction Fragment Length Polymorphism (RFLP) PCR. The PCR amplified products were run on Polyacrylamide Gel Electrophoresis (PAGE). Results: The Xmn-l polymorphism was seen in 26/70 (37.1%) and BCL11A polymorphism was seem in 50/70 (71.4%) of the patients. Conclusion: BCL11A and Xmn-l polymorphisms are important secondary modifiers in patients with thalassaemia intermedia in Northern Punjab.

Association of Mean Platelet Volume with Risk Factors and Functional Outcome in Acute Ischemic Stroke.

Background Stroke is the second leading cause of death in the world and a major cause of disability, with ischemic stroke contributing to 87% of all strokes. Platelets are central in the formation of thrombus, and in the process, they enlarge in size, become active, and secrete prothrombotic factors. This is supported by the presence of large platelets in ischemic stroke, where they may be implicated in the pathogenesis of vessel occlusion, leading to stroke. The mean platelet volume (MPV) is an important laboratory marker of platelet function and activation. Materials and Methods The present study was conducted to assess the role of MPV in the pathogenesis, severity, and outcome of ischemic stroke. It was an observational study in 100 acute ischemic stroke (AIS) patients (excluding cardioembolic stroke) admitted to the Medicine wards, Department of Medicine, Jawaharlal Nehru Medical College, a tertiary care hospital at Aligarh. The MPV was correlated with the conventional risk factors of ischemic stroke and outcome (using modified Rankin scale [mRS]). The study revealed statistically significant correlation between MPV and hypertension, type 2 diabetes mellitus, and carotid intima media thickness (CIMT). Also, the MPV at presentation positively correlated with mRS (correlation coefficient 0.818); thus, high MPV was associated with more severe disability. Conclusion The MPV at the time of presentation of ischemic stroke may be useful in predicting the severity of stroke and neurological recovery. However, a larger study including diverse population is required to endorse its predictive value in AIS.

Frequency And Pattern Of Bone Marrow Involvement Among Patients With Non Hodgkin Lymphoma.

BACKGROUND: Non-Hodgkin lymphoma (NHLs) are a heterogeneous group of lymphoid neoplasms, characterized by an irregular pattern of spread and may present with extranodal involvement This study was conducted to determine the frequency and pattern of Bone marrow involvement on trephine biopsy in cases of Non-Hodgkin lymphoma (NHL). METHODS: This cross sectional study was conducted in Pathology department of Fauji Foundation Hospital (FFH)/Foundation University medical college (FUMC) Rawalpindi, from14th December 2010 to 14th December 2011. One hundred and six patients with histopathologically confirmed Non-Hodgkin lymphoma on lymph node (LN) biopsy, who had not received any chemotherapy were selected and Bone Marrow (BM) trephine biopsies for staging were performed on them. RESULTS: Out of one hundred and six patients, forty five (42.5%) were diagnosed to have Bone Marrow involvement on staging. The most common pattern was diffuse, i.e., 44.44%, followed by the interstitial infiltrate in 28.89%, focal and mixed constituted 11.11% each, and paratrabecular pattern was found in 4.44%. CONCLUSIONS: This study highlights the high incidence of involvement and diffuse pattern in the Bone marrow biopsies of newly diagnosed Non-Hodgkin lymphoma, both of which indicate poor prognosis..

Frequency of intrinsic factor antibody in megaloblastic anaemia.

OBJECTIVE: To evaluate the presence of intrinsic factor antibody in vitamin B12 deficient patients. STUDY DESIGN: Cross-sectional, observational study. PLACE AND DURATION OF STUDY: Fauji Foundation Hospital, Foundation University Medical College and Armed Forces Institute of Pathology, Rawalpindi, from January 2011 to June 2012. METHODOLOGY: A total of 120 patients of megaloblastic anaemia were selected on the basis of low serum vitamin B12 level. The intrinsic factor antibody tests were performed by ELISA method. The patients were considered positive or negative on the basis of presence or absence of intrinsic factor antibody respectively. The data was analyzed by using SPSS version 14. RESULTS: Pernicious anaemia with intrinsic factor deficiency was found in 13.3% in 120 vitamin B12 deficient patients. The mean age of patients of pernicious anaemia was 41.5 years, with a male to female ratio of 1:2.5. It was relatively more common in older age (17% in age more than 60 years) as compared to other age groups. CONCLUSION: Frequency of pernicious anaemia in megaloblastic anaemia was 13.3%. The male to female ratio was 1:2.5 and it was relatively more common in age group of more than 60 years.

Chediak-Higashi syndrome presenting in accelerated phase.

Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder, characterized by silver hair, recurrent infections, partial oculo-cutaneous albinism, mild coagulation defect and progressive neuropathy. The characteristic feature of CHS is the presence of huge lysosomes and cytoplasmic inclusions within different body cells like the white blood cells. The disease has an early onset but usually presents in an accelerated phase. We present a case of a 2 years old boy with high grade fever, bilateral cervical lymphadenopathy, hepatosplenomegaly, abdominal distention of 28 days duration. He was diagnosed with Chediak-Higashi syndrome in accelerated phase on the basis of clinical presentation, morphological findings on peripheral blood film and bone marrow aspirate.

Myeloid sarcoma in a child with acute myeloblastic leukaemia.

We report a rare occurrence of myeloid sarcoma in a 7 years old child with acute myeloblastic leukaemia (AML-FAB type M2). He presented with fever, generalized weakness, bilateral proptosis and left parotid swelling. CT scan revealed a mass in paranasal sinuses extending into brain and retro-orbital region. Diagnosis of AML M2 was made on bone marrow aspiration and special stains. Induction therapy for AML was given according to standard protocol. The extramedullary lesion as well as the acute leukaemia went into complete remission.

An audit of length of bone marrow trephine biopsies at a tertiary care hospital.

BACKGROUND: Bone marrow trephine biopsy is a well established minor surgical procedure for the inspection of bone marrow usually done along with bone marrow aspiration. The objective of this study was to evaluate the length of trephine biopsies and the rate of positivity for diagnosis as well as unfit biopsies in various length ranges. METHODS: This retrospective study was conducted at Fauji Foundation Hospital and Foundation University Medical College Rawalpindi from Jan 2007 to Dec 2009. A total of 394 trephine biopsy reports were collected and reviewed. The criterion for adequate trephine biopsy was > or = 1.5 Cm. The biopsies were divided into four groups according to length, i.e., group-1: > or = 1.5 Cm, group-2: 1-1.4 Cm, group-3: 0.5-0.9 Cm, and group-4: < 0.5 Cm. The adequacy of trephine biopsy length and rate of positive diagnosis as well as unfit biopsies were compared. RESULTS: Total 394 trephine biopsies were reviewed. Group-1 included 88 biopsies and 87 (98.9%) had positive diagnosis. Group-2 included 137 biopsies and 133 (97.1%) had positive diagnosis. Group-3 included 99 biopsies and 91 (92%) had positive diagnosis. Group-4 included 70 biopsies and 57 (81.4%) had positive diagnosis. There was no significant difference between group-1 and group-2 for the rate of positivity of diagnosis (p = 0.65). In group-1, 1 (1.1%) was unfit for evaluation, in group-2, 4 (2.9%) were unfit, in group-3, 8 (8%) were unfit, and in group-4, 13 (18.5%) were unfit for evaluation. Total 26 trephine biopsies were unfit for evaluation, out of which 13 (50%) belonged to group-4. Trephine biopsies that were unfit for evaluation were 4 (4.9%) in 2007, 17 (10.5%) in 2008, and 5 (3.3%) in 2009. CONCLUSION: Although 22.3% biopsies were of recommended length there was no significant difference in rate of positive diagnosis between biopsies of > or = 1.5 Cm and 1-1.4 Cm.

Microalbumiuria and associated risk factors in type II diabetics.

OBJECTIVE: To determine the frequency of microalbuminuria (MA) and its associated medical risk factors in type II diabetic patients. PLACE AND DURATION OF STUDY: This cross-sectional analytical study was conducted during Ist half of 2003 at Combined Military Hospital, Lahore. Non-probability purposive sampling was employed. MATERIALS AND METHODS: Study population included 150 type II diabetic patients (70 women, 80 men) attending outpatient department of the hospital. Patients having clinical albuminuria and with other causes of proteinuria were excluded. RESULTS: Women and men were of comparable ages. Women (26.4 kg/m2) had higher body mass index (BMI) than men (24.3 kg/m2). The frequency of MA was 46.7%, higher in males (50.6%) than females (41.5%). Fasting plasma glucose and HbA1c levels were significantly higher in patients with MA compared to those with normoalbuminuria (p <0.001). The microalbuminuric patients had significantly decreased HDL-c levels compared to normoalbuminuric subjects (p < 0.001). However, no relation of MA with age, gender, known duration of diabetes, BMI, history of smoking, hypertension and serum: total cholesterol, LDL - c, triglyceride, urea and creatinine was found. CONCLUSION: There is a strong association of poor glycaemic control and decreased HDL-c levels with the presence of microalbuminuria.