Reverse hybridization StripAssay detection of beta-thalassemia mutations in northeast Egypt.

Aim: beta-Thalassemias are widely distributed in Mediterranean and Middle Eastern countries. Reverse hybridization StripAssay method is reported to be rapid, simple, reproducible and less expensive. The aim of this study is to evaluate reverse hybridization StripAssay method for detection of beta-thalassemia mutations in Egyptian children.

Essential thrombocythemia with myelofibrosis transformed into acute myeloid leukemia with der(1;15)(q10;q10): case report and literature review.

Translocations involving chromosomes 1 and 15 are uncommon in hematologic malignancies. So far, only 42 cases have been reported with t(1;15) as a reciprocal or complex chromosomal abnormalities. We herein report the first case in the literature, to our knowledge, of a 44-year-old female with essential thrombocythemia and severe myelofibrosis who developed acute myeloid leukemia (AML-M4) with der(1;15)(q10;q10) after 13 years of treatment.

Decitabine maintains hematopoietic precursor self-renewal by preventing repression of stem cell genes by a differentiation-inducing stimulus.

The cytosine analogue decitabine alters hematopoietic differentiation. For example, decitabine treatment increases self-renewal of normal hematopoietic stem cells. The mechanisms underlying decitabine-induced shifts in differentiation are poorly understood, but likely relate to the ability of decitabine to deplete the chromatin-modifying enzyme DNA methyltransferase 1 (DNMT1), which plays a central role in transcription repression.

Successful pregnancy involving a man with chronic myeloid leukemia on dasatinib.

Dasatinib is a highly potent Bcr-Abl inhibitor that is approved for the treatment of imatinib-resistant or -intolerant chronic myeloid leukemia (CML). The potential effects of dasatinib on sperm counts, sperm function, and fertility have not been studied yet. There is only one report in the medical literature of successful pregnancies while patients were taking dasatinib, thus making our case the second report.

Histopathologic patterns of testicular biopsies in infertile azoospermic men with varicocele.

In azoospermic infertile men with varicocele, testicular biopsy revealed histopathologic patterns that varied from disorganized spermatogenesis with low or moderate sperm scores to early (primary spermatocytes stage) or late (spermatid stage) arrested spermatogenesis or germ cell aplasia and Sertoli cells only. Diagnostic testicular biopsy can be helpful for accurate management of azoospermic infertile men with varicoceles before surgical repair.

Relationship of reactive oxygen species levels in day 3 culture media to the outcome of in vitro fertilization/intracytoplasmic sperm injection cycles.

Objective: To examine the relationship of early human embryonic development parameters to day 3 reactive oxygen species (D-3 ROS) levels in culture media.

Design: Prospective study.

Setting: Tertiary care hospital.

The association between leukocytes and sperm quality is concentration dependent.

Background: To evaluate the association between leukocytes (polymorphonuclear granulocytes -PMNL) and semen parameters at different leukocyte concentrations.

Methods: This was a retrospective clinical study at a university hospital andrology clinic. Semen samples from infertile men were analyzed for sperm morphology and motility according to seminal leukocytes (PMNL) concentration (category A: >0 to <0.

First report on HLA-DPB1 gene allelic distribution in the general Lebanese population.

Aims: Interest in the importance of the HLA-DPB1 gene has increased lately, especially in transplantation outcomes in addition to other HLA CII molecules. This is the first study that assesses HLA-DPB1 typing among healthy Lebanese individuals.

Methods: The HLA-DPB1 alleles were detected using the polymerase chain reaction/sequence-specific priming method and our study included 130 individuals.

Long-term outcome of adult acute lymphoblastic leukemia in Lebanon: a single institution experience from the American University of Beirut.

Background And Objectives: The most important studies about outcome of acute leukemia come from developed countries, whereas most of the patients with this disease are in developing countries. We report predictive and prognostic factors in patients with acute lymphoblastic leukemia (ALL) in a tertiary care center in a developing country.

Patients And Methods: We retrospectively reviewed the records of adult patients with acute leukemia who were referred to the American University of Beirut Medical Center between 1996 and early 2006.

Semen characteristics and sperm DNA fragmentation in infertile men with low and high levels of seminal reactive oxygen species.

Objective: To examine sperm motility, total antioxidant level (TAC), DNA fragmentation, and medical history in infertile men with high seminal high reactive oxygen species (ROS).

Design: Prospective study.

Setting(s): Tertiary care hospital.

Reactive oxygen species levels are independent of sperm concentration, motility, and abstinence in a normal, healthy, proven fertile man: a longitudinal study.

In a longitudinal study over a period of 21 months, we demonstrated that seminal reactive oxygen species (ROS) levels are independent of sperm concentration, motility, and abstinence duration within a healthy sperm donor, although some variations were observed in ROS levels. We suggest that fluctuation in seminal ROS values may be related to physiologic or transient changes in spermatogenesis.

Tris(1,10-phenanthroline)cobalt(II) bis-(perrhenate) monohydrate.

In the title compound, [Co(C(12)H(8)N(2))(3)][ReO(4)](2)·H(2)O, the Co(II) atom is coordinated by three 1,10-phenanthroline ligands in a distorted octa-hedral arrangement. In the crystal, the components are linked by O-H⋯O, C-H⋯O and aromatic π-π stacking [shortest centroid-centroid separation = 3.659 (5) Å] inter-actions.

Bis(2-amino-3-nitro-pyridinium) dihydrogen-diphosphate.

The structure of the title compound, 2C(5)H(6)N(3)O(2) (+)·H(2)P(2)O(7) (2-), contains infinite (H(2)P(2)O(7) (2-))(n) layers stacked perpendicular to the a axis. The 2-amino-3-nitro-pyridinium cations are arranged in pairs and are anchored between these layers, linking them by N-H⋯O and C-H⋯O hydrogen-bonding and electrostatic inter-actions between anionic and cationic species to form a three-dimensional network.

2-Amino-3-nitro-pyridinium perchlorate.

The title compound, C(5)H(6)N(3)O(2) (+)·ClO(4) (-), is comprised of discrete perchlorate anions and 2-amino-3-nitro-pyridinium cations. The anion has a typical tetra-hedral geometry while the cation presents a nearly planar [maximum deviation = 0.007 (8) Å] pyridinium ring.

2-Amino-3-nitro-pyridinium perrhenate.

In the title mol-ecular salt, (C(5)H(6)N(3)O(2))[ReO(4)], the cations and tetrahedral anions are linked by trifurcated N-H⋯(O,O,O) and bifurcated N-H⋯(O,O) hydrogen bonds, as well as weak C-H⋯O inter-actions. This results in alternating corrugated inorganic and organic layers in the crystal.

Potential biological role of poly (ADP-ribose) polymerase (PARP) in male gametes.

Maintaining the integrity of sperm DNA is vital to reproduction and male fertility. Sperm contain a number of molecules and pathways for the repair of base excision, base mismatches and DNA strand breaks. The presence of Poly (ADP-ribose) polymerase (PARP), a DNA repair enzyme, and its homologues has recently been shown in male germ cells, specifically during stage VII of spermatogenesis.

JAK2 V617F mutation detection: laboratory comparison of two kits using RFLP and qPCR.

Aim: The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis with an increased demand for testing using molecular techniques. The latter are diversified and all aim to simplify the methods employed for detection.

Materials And Methods: In this study, two detection kits were compared: one using polymerase chain reaction (PCR)-restriction fragment length polymorphisms (RFLP) (JAK2 Activating Mutation assay; InVivoScribe Technologies, San Diego, CA) and the other using real-time quantitative PCR (JAK2 MutaScreen Kit assay; Ipsogen, Marseilles, France).

Concomitant occurrence of kimura disease and mycosis fungoides in a Lebanese woman: significance and response to rituximab.

Kimura disease (KD) is a rare condition that predominantly affects young middle-aged Asian men. It is classically characterized by tumors in the head and neck region with associated eosinophilia and elevated serum immunoglobulin E levels. The exact pathogenesis of this condition remains unknown.

Distribution of cytokine gene polymorphisms in the general Lebanese population: the first report.

Context: Cytokines are polypeptide regulatory molecules that play a significant role in inflammatory and regulatory responses of the immune system. Several cytokine gene polymorphisms have been studied to date and have been found to be associated with distorted cytokine production or activity by affecting transcriptional regulation and with vulnerability to a variety of infectious and autoimmune diseases as well as to transplant rejection.

Results: We studied 106 healthy Lebanese individuals using polymerase chain reaction/sequence-specific priming technique to detect 22 single-nucleotide polymorphisms within 13 cytokine genes: IL1alpha 889-T/C, IL1beta 511-T/C, IL1beta +3962-T/C, IL1R pst1 1970-T/C, IL1RA mspa1 11100-T/C, IL4Ralpha 1902-G/A, IL12 1188-C/A, IFNgamma 874-A/T, TGFbeta codon 10-C/T, TGF-beta codon 25-G/C, TNFalpha 308-A/G, TNFalpha 238-A/G, IL2 166-G/T, IL2 330-T/G, IL4 1098-T/G, IL4 590-T/C, IL4 33-T/C, IL6 174-C/G, IL6 nt565-G/A, IL10 1082-G/A, IL10 819-C/T, and IL10 592-A/C.

Massive pulmonary embolism associated with Factor V Leiden, prothrombin, and methylenetetrahydrofolate reductase gene mutations in a young patient on oral contraceptive pills: a case report.

Factor V Leiden (Factor V G1691A), prothrombin gene mutation G20210A, and homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene are known to predispose venous thromboembolism (VTE). We present herein a rare case of a young woman heterozygous for these mutations and taking oral contraceptive pills for less than 2 months, diagnosed to have massive deep venous thrombosis and bilateral pulmonary embolism. The patient was managed for 10 days in the hospital and discharged home on oral anticoagulants.

Adult T-cell leukemia/lymphoma in the Middle East: first report of two cases from Lebanon.

Background: Adult T-cell leukemia/lymphoma (ATL) is an aggressive lymphoproliferative disorder caused by human T-cell leukemia virus type I (HTLV-I). HTLV-I is endemic in southern Japan, the Caribbean, Central and South America, certain areas of Africa, and the southeastern United States. In the Middle East, North East Iran, particularly the region of Mashhad, has been recognized as an endemic region.

Killer cell immunoglobulin-like receptor genotypes in Behçet's disease patients: any role for the 3DP1*001/002 pseudogene?

Aims: Genotypic profiles of the natural killer cell immunoglobulin-like receptors (KIR) have been reported to vary among different ethnic groups and variable clinical entities. This study represents the second report on its distribution among patients with Behçet's disease (BD). We studied 43 unrelated Lebanese Behçet's patients, had their DNA typed using sequence-specific primer technique for the presence of 16 KIR genes and pseudogenes loci, and compared them to the general Lebanese population.