[ JAK2 mutation in myeloproliferative neoplasms: a predictive factor of thrombosis]

Background: BCR-ABL negative myeloproliferative neoplasms [MPN] include polycythemia Vera [PV], essential thrombocythemia [ET] and primitive myelofibrosis [PMF]. the JAK2 V617F mutation has been introduced since 2008 as a major diagnostic criterion on the one hand and on the other hand, it would be linked to increased risk of thrombotic complications

Aim: This study aimed to evaluate the association of JAK2 mutation and thrombotic events in MPN

Methods:A retrospective study concerning 45 BCR-ABL negative MPN patients [mean age=53 old years, sex ratio=0.8] was conducted

Results: They were classified as PV [22 patients], ET [17 patients], PMF [3 patients] and atypical MPN [3 patients]. The JAK2 mutation was found in 64.4% of patients: 72.7% of PV patients, 47% of ET patients and 66.7% of PMF patients. Thrombotic events were recorded in 11 patients [24.4%]. Cerebral arteries and portal vein were the most frequent localizations. The JAK2 mutation was an independent risk factor of thrombotic events

Conclusion: Consequently, it seems that screening for JAK2 mutation in BCR-ABL negative MPN could play a role in identifying patients at high risk of vascular complications

[Causes of vitamin B12 deficiency]

Background: B12 Vitamin deficiency is common in adults [20% of general population of industrialized populations], especially in elderly patients [30-40%]. The etiologies of Vitamin B12 deficiency have been dominated by the cobalamin syndrome nutrient and the Biermer disease, rarely by the intake or nutritional deficiency and bad absorptions

Study Objective: Establish an etiology of vitamin B12 in a Tunisian population

Methods: In a prospective study involving 100 patients with macrocytic anemia, a comprehensive assessment has been carried out of: B12 vitamin and folate intake, homocysteine, immunological assessment [antibodies, intrinsic anti-factor and anti-gastric parietal cells], an endoscopic exploration, and a dietary nutritional survey

Results: The mean age of patients was 53.6 +/- 17,6 years [13 - 88 years], the gender ratio [female/male] is 1.22. The clinical symptomatology shows a functional anemia syndrome in 89% of cases, a digestive syndrome in 88% of cases, and neurological disorders in 67% of cases. The intake of B12 vitamin was reduced [<180 pg/ml] in 99 patients, associated with a hyperhomocysteinemia in 81.63% of cases.The intrinsic anti-factor antibodies were positives in 32 patients, and the antibody anti-gastric parietal cells in 85 patients. Gastric biopsy was performed in 54 patients, showing a chronic atrophic gastritis of fundic localization in 44 patients, antral in 5 patients and pan- gastric in 3 patients. The diagnosis of Biermer anemia was held in 75% of patients, that of FCS in 16% of patients, and a lack of intake in 8% of patients. The etiology was undetermined in 1% of cases

Conclusion: Vitamin B12 deficiency is common in the general population, its causes and origins are multiple, we list them in order of occurrence: Biermer disease, the FCS, and the intake deficiency in our population

[Adult lymphocytosis classification by flow cytometry]

Positive and differential diagnosis of chronic lymphocytic leukemia [CLL] is based on immunophenotyping analysis. CLL is searched whenever a persistent lymphocytosis is found. To evaluate the performance of flow cytometry in etiologic diagnosis of lymphocytosis. Could it allow us to distinguish CLL from other causes of lymphocytosis? Blood samples from 104 adult patients having a rate of lymphocytes> 5000 ele/mm[3] persisting more than three months were analyzed using a large panel of monoclonal antibodies in three colors and Cell Quest software. Lymphoproliferative B disorder was retained in 83 cases, including 50 cases of typical CLL with Matutes score >/= 4 and 12 cases of atypical CLL with Matutes score = 3. Diagnosis of hairy cell leukemia and follicular lymphoma were guided by the respective specific antigen expression CD103 and CD10. Large granular T lymphoma [LGL-T] was the most common etiology of lymphoid T proliferation. Unusual cases of Natural Killer [NK] and NK/T proliferations were found. The Flow cytometry is a powerful tool to establish lymphocytosis etiological diagnosis; it avoids invasive investigations in a large number of cases

[Protein S, C and antithrombin deficiency: Association to myocardial infarction and thromboembolism in young]

The pathogenesis of myocardial infarction [MI] in young involves new factors including constitutional or acquired thrombophilia. To determine in patients

[Transfusion safety: state of the arts]

Blood transfusion is a high risk activity. To evaluate transfusion safety in planned cardiac surgery. This study was conducted in the blood bank of the Rabta Hospital in two phases: a phase to observe transfusion acts followed by corrective actions and a phase to evaluate the impacts of these corrections on the transfusion practices. Characteristics of the potentially transfused patients, the eventually prescribed, dispensed and transfused blood products and transfusion practices were studied. During the observation phase, 70 patients were enrolled, 51 potentially transfused. Weaknesses concerned the mention of phenotype and transfusion history when ordering blood components as well as the double ABO/D group typing, the phenotype and the cross match performing. Final bedside controls were done in a wrong way. The distribution and the blood administration were established respectively for 208 and 232 blood products. The traceability was established for 86 blood products. During the evaluation phase, 30 patients were enrolled, 15 potentially transfused. Improvement was achieved in the transfusion history notification, phenotype and antibodies screen performing and cross matching. Optimisation of blood transfusion can be conceived only with collaboration between the different transfusion structures

[Erythrocyte abnormalities in thyroid dysfunction]

Erythrocyte abnormalities are frequently associated with thyroid dysfunction. However, they are rarely investigated and related to the thyroid. This study was aimed to determine the nature and frequency of erythrocyte abnormalities in thyroid disease and look for their evolution after thyroid function restoration. This retrospective study included 412 patients with peripheral thyroid disease; hyperthyroidism [n=235] or hypothyroidism [n=177]. Hyperthyroidism was considered for TSH <0.10 IUI/ml and hypothyroidism for TSH> 5.01 IUI/ml. Anemia was defined by hemoglobin level <13 g/dl in men and <12 g/dl in women, microcytosis by mean corpuscular volume [MCV] <80 fl, macrocytosis by MCV> 98 fl, and hypchromia by mean corpuscular hemoglobin [MCH] <25 pg. Restoration of euthyroid state was considered in patients with normal TSH levels for at least 3 months. Anaemia was observed in 40.9% of patients with hyperthyroidism and 57.1% of patients with hypothyroidism. Among these, normocytic or macrocytic anaemia was present in 46.3% of cases. Whereas, microcytosis, with or without anaemia, was noted in 87.7% of patients with hyperthyroidism. FT4 was positively correlated with the number of red blood cells and haemoglobin, and inversely correlated with MCV and MCH. After restoration of euthyroid state, most erythrocyte abnormalities were corrected. Thyroid diseases are frequently associated with erythrocyte abnormalities, including normocytic anaemia in hypothyroidism and microcytosis in hyperthyroidism. These abnormalities should be investigated and corrected. Their presence could steer towards subclinical thyroid dysfunction, allowing its early management