Objectives: To report a rare case of moyamoya syndrome with primary antiphospholipid syndrome (APS). Clinical Presentation and Intervention: A 41-year-old woman was admitted with sudden onset of left-sided hemiparesis. Magnetic resonance imaging and magnetic resonance angiography of the brain showed characteristic features of moyamoya vessels. Laboratory investigations revealed raised levels of anticardiolipin antibody. She made a complete and uneventful recovery with aspirin and intensive physiotherapy over a period of 2 weeks. Conclusion: The association of APS and moyamoya disease may present a dilemma in management. While APS is often considered to be an indication for giving anticoagulation, a trial of antiplatelet agents is preferable to anticoagulation because of the risk of bleeding from the fragile moyamoya vessels.
Triple-negative breast cancers (TNBCs) are defined as lack of expression of estrogen, progesterone, and Her2neu receptors by immunohistochemistry. 1 This subgroup has an aggressive clinical behavior. 2 JAK2 (V617F) exon 14 is a most probable mutation in occurring in pseudo kinase domain with loss of intrinsic auto inhibitory activity and can result in malignant transformation and uncontrolled proliferation leading to TNBC. It is because of this reason for particularly choosing this mutation for study. 3 Recent studies suggest that an amplification of JAK2 gene on somatic chromosome 9p24.1 region in patients with TNBC. 4 Ruxolitinib is an orally available JAK2 inhibitor that can be useful in this subgroup of patients. 5 A total of two hundred and fifty consecutively selected premenopausal, pretreatment female patients at CMH Lahore between 25 and 60 years diagnosed during past 2 years (Jan 2017Jan 2019) as triple-negative breast cancer (estrogen, progesterone, and Her 2 neu negative) in stage M1 on immuno histochemistry examination of breast tissue were included in the study. The presence of myeloproliferative neoplasms (MPN) was ruled out in all patients. Informed consent was obtained from all patients involved in the study. All the blood samples were taken before the start of treatment in TNBC cases. A cohort of age-matched consecutively selected female volunteers (n = 100) was included as unpaid healthy controls after written informed consent. Permission for the study was taken from hospital ethical committee. Real-time polymerase chain reaction was done on all the samples. Real-time polymerase chain reaction was used for amplification of DNA and was carried out in thermal cycler Rotor-Gene-Q (Corbett Research) having quality of rapidly heating and cooling of samples. The results of RT-PCR were recorded as cycle threshold (C t ), and C t < 20 was taken as positive and rest was taken as negative. Positive and negative control DNA samples for JAK2 V617F mutations were included in all batches. Positive samples were further tested for additional mutations that affect signaling pathway notably JAK2 exon12, STAT, KRAS, NRAS, CBL1, PTPN11, RAF, MAP, MYC, and PI3K mutations by Sanger sequencing. JAK2 exon 14-positive DNA of an age-matched MPN negative TNBC patient was taken as positive control while exon 14-negative DNA of an age-matched MPN negative TNBC patient was taken as negative control for PCR. To check the robustness of JAK2 V617F exon 14 mutation assays, quantitative results performed were found to be reliable across all mutation loads with moderate variability at low allele burden (0.1 and 1%; CV = 0.45 and 0.76, respectively). The percentage of samples correctly identified as positive and negative for the JAK2 V617F exon 14 mutation in both groups was calculated. The kappa value (k) was used to determine the level of agreement between each alternative assay and the PCR sequencing. All healthy controls (n = 100) were negative (DNA) for JAK2 V617F exon 14 mutation by real-time PCR. A total of twenty-five (n = ...
Objective: To determine the frequency of trisomy 12 in B-Cell chronic lymphocytic leukaemia (CLL), to correlate its association with clinico-pathologic features and to determine the role of this cytogenetic defect to the prognosis. Study Design: Cross sectional study. Place and Duration of Study: Haematology department, Armed Forces Institute of Pathology, Rawalpindi, from May 2017 to Aug 2018. Methodology: A total of 56 newly diagnosed patients of Chronic Lymphocytic Leukaemia were included in the study. Patients were diagnosed on the basis of National Cancer Institute Working Group guidelines. A detailed history and thorough clinical examination were performed and complete blood counts, biochemical profile, bone marrow examination, immunophenotyping on bone marrow/peripheral blood samples were done for the diagnosis of Chronic lymphocytic leukaemia. Interphase FISH studies were performed on blood/bone marrow aspiration for detection of Trisomy 12 were performed. Results: Out of 56 patients, trisomy was detected in 12 (10.7%) patients. Out of 7 patients with trisomy 12, five patients presented in late stages (Binet stage B and C), however this association of Trisomy 12 with Binet stage was also statistically insignificant (p=0.474). About six with trisomy 12 were positive for CD 38, however this association was also not statistically significant (p=0.124). Results revealed that patients having trisomy 12 underwent chemotherapy at diagnosis and during follow ups as compared to patients having other cytogenic abnormalities. Moreover, patient with trisomy 12 develop progression in disease during course of illness, however association was statistically insignificant (p>0.05)............
Objective: To determine the genotypic frequency of RHC antigen in females of reproductive age. Study Design: Cross-sectional study. Place and Duration of Study: Armed Forces Institute of Transfusion (AFIT) and Pak Emirates Military Hospital, (PEMH) in collaboration with NUMS Pakistan, from Dec 2020 to Dec 2021. Methodology: Females aged 16 to 45 years were recruited in the study. Demographic data, including age, parity, ethnicity etc.,was recorded on a proforma. Venous blood samples were collected in EDTA tubes, and DNA was extracted using 5% Chelex TM. A conventional Polymerase chain reaction and amplified products were subjected to Polyacrylamide Gel electrophoresis. Results: Amongst 200 females, 172(86%) had the expression of RHC antigen, while 28(14%) were negative for the respective antigen. These results were valuable in predicting the risk of hemolytic disease in fetuses and newborns and alloimmunization in our population. Conclusion: Females in the reproductive age group had RHC positivity of 86%. This data will help predict the risk of HDFN in future pregnancies and individuals at risk of alloimmunization in RHC-negative women.
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