Background. Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder in which the immune system destroys native platelets. In this condition an autoantibody is generated against a platelet antigen. ITP affects women more often than men and is more common in children than adults. Objective. To assess the effect of Helicobacter pylori eradication therapy (HPET) on platelet count in Helicobacter pylori associated chronic immune thrombocytopenic purpura (chronic ITP) in adult. Materials and Methods. It is an interventional prospective study conducted at Liaquat University of Medical and Health Sciences, Jamshoro, from 2014 to 2015. A set of 85 patients diagnosed with chronic ITP were included in the study via convenient sampling. Patients with platelets count < 100 × 109/L for >3 months were selected. They were posed to first-line investigations which comprised complete blood count (CBC) and peripheral blood smear examination followed by second-line tests including bone marrow examination and Helicobacter pylori stool specific antigen (HpSA-EIA). Standard H. pylori eradication therapy was offered and the patients were assessed at regular intervals for 6 months. Results. Of the 85 study patients, 32 (37.6%) were male and 53 (62.3%) were female. Mean ages of H. pylori positive and negative subjects were 43.89 ± 7.06 and 44.75 ± 7.91 years, respectively. Bone marrow examination confirmed the diagnosis and excluded other related BM disorders. H. pylori stool antigen (HpSA) was detected in 34 (40%) patients and hence regarded as H. pylori positive; the rest were negative. Treatment with eradication therapy significantly improved the mean platelet counts from 48.56 ± 21.7 × 109/l to 94.2 ± 26.8 × 109/l. Conclusion. We concluded that the anti-H. pylori eradication therapy improves blood platelet counts in chronic immune thrombocytopenia.

Introduction Acute myeloid leukemia (AML) is a highly malignant cancer of the bone marrow, clinically and genetically heterogenous clonal disease illustrated by the accumulation of acquired somatic genetic alterations in hematopoietic progenitor cells that modify normal mechanisms of self-renewal, proliferation and differentiation. AML cytogenetic studies provide important diagnostic and prognostic information for AML patients. However, approximately 50% of AML patients have a normal karyotype (NK- AML). Large number of causal mutations of AML has not yet been uncovered. Although disease etiology is still unknown after multiple OMIC's study were published. In this review an attempt is made to approach the subject in the light of currently available literature. Material and Methods Material and information of diagnosed cases of de novo AML (n=14) used after approval of Institutional Ethics Review Committee. Morphological subtypes of AML were classified according to WHO classification. A researcher used retrospective medical record review to obtain clinical, diagnostic data including disease status and blood chemistry and as well as archived genomic DNA of untreated cases. Mutational analysis was done to identify AML somatic mutations using the whole-exome sequencing. The library preparation along with the capture used the illumina TruSeq DNA Exome kit. NGS HS Kit -Proposed sequencing platform - illumina® NovaSeq 6000, 300 cycles -100X coverage - approx. 6Gb per sample. We explored the functional impact of the genes identified in the mutational analyses through an integrated Gene Ontology (GO) and pathway analysis. Results Majority of patients were 10 male with median age 40 range (23-60 years). AML with normal karyo type AML (NK-AML) were five included with maturation, without maturation and monocytic lineage. Significant somatic single nucleotide variants (SNVs) were identified and pathway analysis performed to determine frequently affected signaling pathways. We identified significant, novel recurrent mutations in MAML3 gene (8 patients). No significant novel gene identified in three abnormal karyo type AML (AK-AML). Five out of the 30 novel genes have previously been reported to be associated with other diseases. MAML3 showed statistical significance exclusively in NK-AML patients(n=5). A total of 700 genes identified 500 missense, 25 nonsense, 90 frameshift indels, and/or three stop codon deletions. Using the IntOGen platform, we identified MAP kinase, cell cycle, actin cytoskeleton regulation, PI3K-Akt signaling and other pathways in cancer as affected in the samples. Conclusion This data is the first of its kind from the Pakistani population.Specific patterns of genomic alterations may play an important role in sub types of morphological AML. Future studies to evaluate the usefulness of these genes in genetic testing for the early diagnosis and prognostic prediction of AML patients would be worthwhile. Keywords: Acute myeloid leukemia, Gene ontology, Pathway analysis, Somatic mutation, Subtype-specific mutation, Whole-exome sequencing Disclosures No relevant conflicts of interest to declare.

We performed a Cross sectional study to determine the frequency of Philadelphia chromosome and frequency of standard and variant translocation in chronic myeloid leukemia cases by the collaboration of Pathology department of Liaquat University of Medical and Health Sciences, Jamshoro and Isra University Hospital, Hyderabad from May to September 2014. A sample of 145 diagnosed cases of CML was selected according to inclusion. Bone marrow and peripheral Blood samples were collected in sodium heparinized bottles. Cytogenetic analysis was performed by karyotyping according to ISCN guidelines for human cytogenetic nomenclature using cytovision system for image analysis, reverse transcription polymerase chain reaction (RT-PCR) was performed to identify the various BCR-ABL transcripts. Ph+ and Ph-chromosomes were noted in 133 (91.7) and 12 (8.2%) of cases respectively. Of 133 Ph+ chromosome, standard chromosome was noted in 121 (90.9%), simple variant in 9 (6.7) and complex variants were noted in 3 (2.2%) of cases. Ph + 133 (91.7%) showed bcr-abl positivity in all subjects. Of 12 (8.2%) Ph-subjects, 7 (%) were bcr-abl positive and 5 (%) were bcr-able negative. Sensitivity and specificity of bcr-abl transcripts was calculated at 95% and 100% respectively. The present study reports Philadelphia chromosome in 90.9% and variant cytogenetic abnormalities are low similar to reported from other countries. Proper assessment of the variant translocations requires better categorization of these translocations.