Frequency of 11 q23/MLL gene rearrangement in Egyptian childhood acute myeloblastic leukemia: biologic and prognostic significance

Molecular cytogenetic abnormalities involving 11q23 are among the most cytogenetic abnormalities in AML patients. We aimed to evaluate the frequency of MLUAF9 fusion gene in AML patients and its prognostic significance. Twenty eight children patients with AML and twenty healthy controls were subjected to complete clinical examination and laboratory investigations including, complete hemogram and BM examination. Diagnosis was. based on FAB morphologic and immunophenotypic criteria. Detection of [MLUAF9] fusion gene were assessed by dual color FISH. Follow up were carried out clinically and by blast count in BM, and response to therapy to detect the outcome of the disease. The frequency of MLL fusion gene MLUAF9 in AML cases was 21% [6/28]. Four patients with MLUAF9 fusion gene were newly diagnosed, two cases were at relapse and no patient at remission showed positivity. As regard the clinical outcome, five out of six MLL positive cases died, three of them during induction and two during relapse. The FAB AML subtypes with MLUAF9 fusion were one M2, three M4 and two M5. FISH technique is a sensitive tool for rapid detection of MLL gene rearrangement at diagnosis which is of high clinical relevance directing treatment strategy as most of these abnormalities have been associated with poor prognosis

Haemostatic disorders in nonsplenectomized and splenectomized thalassaemic children

A group of 40 thalassaemic patients [20 splenectomized and 20 nonsplenectomized] from the Haematology Unit of Tanta University Hospital [age range: 3-14 years] were studied to identify the mechanisms by which haemorrhagic and thrombotic complications occur in thalassaemic patients. The patients' levels of protein C, antithrombin III and in vitro platelet aggregation in response to collagen were compared with those of 20 controls. The study suggests that thrombocytosis, increased platelet aggregation and decreased natural coagulation inhibitors [protein C and antithrombin III] in splenectomized thalassaemic children may be significant in thrombotic complications in such patients. Defective platelet aggregation and prothrombin activity in nonsplenectomized children may also give rise to haemorrhagic tendencies

Practical insight on low tension glaucoma

Low tension glaucoma challenges the concept that damage for high intraocular pressure is the sole mechanism in the pathogenesis of glaucomatous optic atrophy. Vasospasm and vaso-occlusion may be additional risk factors for patients with low tension glaucoma. We examined which of these factors may be responsible for low tension glaucoma. Twelve selected patients with low tension glaucoma underwent the following diagnostic studies to evaluate the etiological risk factors for each patient. The facility of aqueous outflow was measured using the Electronic Digital Tomography - 103 unit. Cold water immersion automated perimetry and platelet aggregation assessment using the Packs -4 machine were also performed. An impaired facility of aqueous outflow was noted in 100% of our cases; cold water immersion of both hands retarded the retinal sensitivity and exaggerated the present field defects in 41.6% and increased platelet aggregation was observed in 33.3% of the cases. Achieving a reduction in intraocular pressure to "normal" levels did not completely rectify the situation nor did it always prevent progression of the disease. We concluded that each patient requires individual assessment and individual management

Diathermised limbal punctures in lowering the intraocular pressure: an experimental study

Medical therapy for glaucoma has many limitations, compliance being the greatest problem. Surgery to create new outfow channels is required, but unfortunately no one procedure has yet been proved more successful than another. A modified external fistulising operation by the diathermy needle used in subretinal fluid evacuation for producing limbal punctures inrabbits was tried in this work. Subonjunctival and subscleral approach were adopted and although the intraocular pressure was reduced in both techniques, the subscleral approach gave better control with minimal or no complications. The blebs remained open and the fistula remained patent as evidenced by histological study

Differentiation of hypochromic anaemia in children by determination of free erythrocyte protoporphyrin, serum ferritin and fetal haemoglobin

In 86 children suffering from hypochromic anaemia of different causes, as iron deficiency [25], hereditary blood diseases [38]. Malignant blood diseases [14], and other diseases including collagen diseases [5], complicated hypoplastic anaemia [2], and chronic bilharziasis [2], and also in 20-age-and sex matched normal children, a study was conducted to evaluate whether free erythrocyte protoporphyrin [FEP], Serum ferritin [SF], and fetal haemoglobin [HbF] may help in the differentiation between the different causes of hypochromic anaemia, especially in those pale children who stand clinically on he border line and have vague histories. The results revealed that SF appeared at various levels, it was lower than normal in iron efficient and was very high in hereditary blood diseases, and other chronic disorders the level of SF varies from high normal to higher than normal. The FEP was found to be very high in iron deficient, was normal or high in hereditary blood diseases, and was high in other groups. The HbF was found to be normal in iron deficient, high in thalassaemia and sickle cell thalassaemia, but normal in sickle cell disease; it showed mild increase in malignant blood disease, and was normal in other groups. The FEP/Hb ratio was found to be of diagnostic help only in early detection of latent iron deficiency anaemia

Fibrinolytic activity in varicella

This study included 22 children with varicella without haemorrhagic manifestations [group IIA] and 8 cases with haemorrhagic manifestations [group IIB]; in addition to 10 normal children [group I] as controls. The present work showed that bleeding time was prolonged in both varicella groups and coagulation time showed no significant change between both varicella groups and control group. Platelet count showed marked decrease in both varicella groups especially group [IIB]. The present work also showed increased fibrinolytic activity in varicella group with haemorrhagic manifestation as evidenced by the presence of fibrin degradation products in 100% of the cases in group [IIB] and 9% of the cases in group [IIA]. Also, euglobulin lysis time was shortened in group [IIB] and was within normal in group [IIA]. Antithrombin III showed marked decrease in group [IIB] and was within normal in group [IIA]. Serum alpha-1-antitrypsin showed significant increase in both varicella groups. Serum alpha-2macroglobin showed significant increase in group [IIA] and no changes in group [IIB]

Effect of oxytocin administration during labour on neonatal hyperbilirubinemia: a study of liver functions and red cell deformability

Fourty newborn infants divided into 4 equal groups were the subject matter of this study. The first group A Control group [10]. Their mothers received no oxytocin infusion for induction of labour, the second group B [10] received 5 units oxytocin, the third group C [10] infused with 5 units of oxytocin and the babies born prematurely and/or low birth weight, the fourth group D [10] received 10 units or more of oxytocin. Estimation of red cell deformability including reticulocytic count [R.C.]. Osmotic fragility [0.F.]. serum haptoglobin [Hapt] and autohemolysis [auto] values and some liver function tests including serum transaminases [SGPT and SGOT], gammaglutamyl transferase enzyme [GGT]. Alkaline Phosphatase [Alk. Phase] and Prothrombin time [Pt]. These parameters were done in the cord blood and at the fifth day of life. The results showed a clear evidence of hyperbilirubinemia in the newborn infants with increased incidence in those born after oxytocin administration specially with large doses and in premature babies. The hyperbilirubinemia was accompanied by significant increase in reticulocytic count, osmotic fragility and autohemolysis with absence of haptoglobin. Also with evidence of disturbed liver functions. The explanation of the findings and their correlations with oxytocin effect have been discussed