28 research outputs found
Frequency of JAK2 and MPL Mutation in BCR/ABL Negative Myelofibrosis in KPK
Introduction: BCR-ABL1-negative myeloproliferative disorders are a sub-group of myeloproliferative neoplasms (MPNs) that consist of polycythemia Vera (PV), Essential thrombocythemia (ET) and Primary Myelofibrosis (PMF). Over the past decade, the morphological and clinical division of myeloproliferative neoplasms (MPN) has changed to a classification that describes the molecular heterogeneity and is unique to this subgroup of haematological malignancies. This includes alterations in Janus kinase 2 (JAK2), and MPL genes.
Objective: To determine the frequency of JAK2 (p.V617F) and MPL (p.W515L) mutation in primary myelofibrosis in KPK province of Pakistan.
Methodology: Fifty patients with PMF were enrolled in the study. JAK2 mutation status was determined using allele specific primers and MPL mutation was detected by direct Sanger sequencing technique. The data was analyzed using BioEdit by aligning the sequence data with reference genome hg19 assembly.
Results: Among 50 patients, 41 patients were diagnosed with PMF, while 9 patients had secondary myelofibrosis i.e. Post PV-MF and Post ET-MF. Out of the 41 PMF patient 2 patients had MPL gene variation, while one of the Post ET –MF had a MPL gene variation. Forty eight (96%) were positive for JAK2 mutation. Five patients who had MPL mutation also showed JAK 2 mutation. Two of the MPL positive patients were also positive for JAK2 mutation.
Conclusion: We reported rate of recurrence of JAK2 mutation in 96% of the cases and MPL exon 10 mutations in 6% of the cases.
Keywords: JAK2, MPL, Myeloproliferative neoplasms
Frequency of JAK2 and MPL Mutation in BCR/ABL Negative Myelofibrosis in KPK
Introduction: BCR-ABL1-negative myeloproliferative disorders are a sub-group of myeloproliferative neoplasms (MPNs) that consist of polycythemia Vera (PV), Essential thrombocythemia (ET) and Primary Myelofibrosis (PMF). Over the past decade, the morphological and clinical division of myeloproliferative neoplasms (MPN) has changed to a classification that describes the molecular heterogeneity and is unique to this subgroup of haematological malignancies. This includes alterations in Janus kinase 2 (JAK2), and MPL genes.
Objective: To determine the frequency of JAK2 (p.V617F) and MPL (p.W515L) mutation in primary myelofibrosis in KPK province of Pakistan.
Methodology: Fifty patients with PMF were enrolled in the study. JAK2 mutation status was determined using allele specific primers and MPL mutation was detected by direct Sanger sequencing technique. The data was analyzed using BioEdit by aligning the sequence data with reference genome hg19 assembly.
Results: Among 50 patients, 41 patients were diagnosed with PMF, while 9 patients had secondary myelofibrosis i.e. Post PV-MF and Post ET-MF. Out of the 41 PMF patient 2 patients had MPL gene variation, while one of the Post ET –MF had a MPL gene variation. Forty eight (96%) were positive for JAK2 mutation. Five patients who had MPL mutation also showed JAK 2 mutation. Two of the MPL positive patients were also positive for JAK2 mutation.
Conclusion: We reported rate of recurrence of JAK2 mutation in 96% of the cases and MPL exon 10 mutations in 6% of the cases.
Keywords: JAK2, MPL, Myeloproliferative neoplasms
Anti Chlamydial Antibodies in Women with Ectopic Pregnancy
Background: To compare the frequency of chlamydia trachomatis infection in women with ectopic and with normal pregnancies.Methods: In this case-control study diagnosed patients of ectopic pregnancy(EP)were included . The control group comprised of early normal intra uterine pregnancies (1st trimester). A total number of 88, comprising 44 cases and 44 controls were included in this study. Sera from patients was drawn at the time of operation or within the subsequent 24 hours. Anti-chlamydial IgG was performed by ELISA.Results: Sampled cases population (n=44) had mean age distribution 26.48 years while among controls, mean age was 25.32 years. Presenting symptoms of cases showed pelvic pain (54.5%), bleeding (27.3%), vomiting (11.4%) and burning micturition (6.8%). During contraceptive practices , out of 88 patients, 5 cases and 20 controls gave history of safe sex practices. Out of 63 patients, who did not give history of any contraceptive practice, Anti-Chlamydia IgG was detected in 11 cases and 5 controls. Regarding Anti-Chlamydia IgG distribution among cases and controls, IgG was detected in 11(25%) cases and in 5(11.3%) controls.Conclusion: Frequency of anti-chlamydial IgG antibodies was much higher in women with ectopic pregnancy (25%) as compared to healthy controls(11.3%)
Length of orbital margins of dry skulls in a local Pakistani population
Orbit is an important bony cavity which lodges eyeball and associated structures for our fundamental sense of vision. Knowledge regarding accurate morphometric measurements of its margins and depth will help in diagnosis and treatment plans of various optic functions. Previous studies showed racial differences in different populations we want to collect data in local population of Asian region as we are lacking data in this region. This study was carried out on 64 bony orbits of 32 dry Asian human skulls. Measurements from right and left bony orbits were taken by digital vernier calipers in millimeters and entered in SPSS 18.0 for calculation of mean and standard deviation.Results were obtained from different orbital margins. Right superior, inferior, medial and lateral orbital margins showed results as 31.30 ± 2.329 mm, 33.59 ± 3.35 mm, 29.57 ± 2.28 mm and 28.37 ± 2.023 mm respectively. While left superior, inferior, medial and lateral orbital margins were 30.944 ± 2.1080 mm, 31.19 ± 2.54 mm, 29.567 ± 2.36 mm and 28.14 ± 2.286 mm respectively. Right sided depth from optic canal to frontomaxillary suture was 41.40 ± 2.88 and left sided depth was 39.93 ± 3.33 mm. Data collected in Asian population showed differences from other races. This study covers important area regarding helpful in surgeries of this region as precise measurements could avoid injuries and postoperative complications.Key Words: Orbital Margin, Pakista
Morphometric study of vertebral artery groove in dry human cervical vertebra in Pakistani population
Introduction: Vertebral artery passes through vertebral artery groove present on the posterior arch of atlas; free movement of which is required during rotation of the neck. This artery can be compressed if the vertebral groove is converted into arcuate foramina due to the projection of bony ponticuli over the grove. This compression can cause vertebra-basilar insufficiency, headache, or neck-shoulder pain of unknown origin. Objective: This study aims to provide data regarding vertebral artery groove and its morphology to help surgeons and clinicians in the local Pakistani population as no data is available in this population. Materials and Methods: A total of sixty adult dry human atlas vertebrae were taken from the Anatomy museum of King Edward medical university. Quantitative and qualitative data were taken for analysis. Quantitative data include the distance of medial and lateral edges of vertebral artery groove from the midline of the posterior arch, the distance of the medial edge of foramen transversarium from the midline, the thickness of vertebral artery groove and its dimensions at medial and lateral entrance points. Qualitative data includes the type of bridging over the vertebral artery groove. Data were analyzed and the mean was taken.Results: Mean distance of the medial edge of vertebral artery groove from midline was found to be 13.32 ± 3.25 and 13.72 ± 2.82 mm on right and left sides respectively while the mean distance of the lateral edge of vertebral artery groove from midline was 22.31 ± 3.47 on the right side and 22.29 ± 2.98 on the left side. The mean of total thickness found was 3.84 ± 0.66 mm on right and 3.57 ± 1.14 mm on left. Morphology showed that 3.33% of the Pakistani population has complete arcuate foramina, 40% partial bridging, and 56.67% absent bridging. Conclusion: Findings of this study can be helpful for neurosurgeons during procedures requiring exposure of the posterior arch of the atlas so that damage to a vertebral artery can be prevented
Ultrasound Assisted Pleural Biopsy with Abram Needle is a Valuable Tool in diagnosing Exudative Lymphocytic Pleural Effusions
Objectives: To evaluate the efficacy and safety of US assisted pleural biopsy using Abram Needle. Study Design: A non-randomized prospective study. The study was approved by Ethical Board of Gulab Devi Chest hospital Lahore. Methodology: The study was conducted at the Department of Respiratory Medicine, Gulab Devi Chest Hospital Lahore. 141 male patients with undiagnosed, unilateral, exudative, lymphocytic pleural effusion were included in the study during Jan. 2014 to Nov. 2015. Pleural biopsy was performed with Abram needle after an informed consent, having localized the biopsy point by chest radiographs & sonography. Tissue samples underwent histopathological evaluation. Diagnosis was made on histopathology reports. Statistics was applied. Results: Six samples were inadequate while 135 were adequate. 31.11% cases were malignant while 68.88% were nonmalignant. Out of 93 nonmalignant cases, 7.52 % were normal pleurae, 46.23% were caseous granulomatous inflammation, 25.80% were chronic nonspecific pleuritis, 10.75 % cases were chronic pleuritis with fibrous thickening, 9.67 % cases were acute pleuritis. Biopsy success rate was 95.74%. All patients tolerated the procedure well. No serious complication occurred. Conclusions: Abram needle pleural biopsy using ultrasound assistance is very safe and excellent diagnostic tool in diagnosing exudative lymphocytic pleural effusions.