Recent advances in chronic lymphocytic leukemia.

Chronic lymphocytic leukemia (CLL) was largely considered to be a disease of slow progression, standard treatment with Chlorambucil and having almost similar prognosis. With the introduction of molecular methods for understanding the disease pathophysiology in CLL there has been a remarkable change in the approach towards the disease. The variation in B-cell receptor response and immunoglobulin heavy chain variable region (IGHV) mutation, genetic aberration and defect in apoptosis and proliferation has had an impact on therapy initiation and prognosis.

Prediction of outcomes for emergency cervical cerclage in the presence of protruding membranes.

The aim of our study is to verify whether some maternal features are related to pregnancy outcomes of emergency cerclage when membranes are protruding through the dilated cervix. We present a retrospective review of 20 cases of emergency cervical cerclage performed over a 3-year period at Al Wasl hospital, a tertiary level centre in Dubai. Analysis shows presence of membrane prolapse with infection causing rupture of membranes, to be the strongest predictor of poor outcome.

Serum ferritin levels and endocrinopathy in medically treated patients with β thalassemia major.

The association between iron overload indices and pathology of the heart and liver in transfusion-dependent patients with β thalassemia major (TM) has been extensively studied. Nonetheless, data on endocrine disease remains limited. This was a cross-sectional study of 382 TM patients treated with regular transfusions and desferrioxamine at the Thalassemia Center in Dubai, UAE.

A profile of cases of gestational trophoblastic neoplasia at a large tertiary centre in dubai.

Objectives. To study (1) the prevalence of different types of gestational trophoblastic neoplasia (GTN) in the local and nonlocal population of women at Al Wasl Hospital, a tertiary level referral centre for northern Emirates, (2) the safety of cervical preparation before uterine evacuation, (3) the role of repeat uterine evacuation in curing these cases, and (4) the percentage of cases ultimately requiring chemotherapy. Material and Methods.

Monochorionic twins discordant for congenital heart disease: a referral center's experience and possible pathophysiologic mechanisms.

Objective: To describe the spectrum of cardiac defects in monochorionic (MC) twins discordant for congenital heart disease (CHD) in a referral center population.

Method: Retrospective study of all twin gestations undergoing echocardiography between 2000 and 2009 at our institution.

Results: A total of 356 twin pairs were evaluated during the study period, 202 for suspected twin-twin transfusion syndrome (TTTS) and the remainder for other indications.

Idiopathic stroke in a normal parturient.

A 34-year-old Chinese woman was admitted to the labour suite for induction of labour. She had no history of hypertension, vascular disease or coagulapathy. She was induced for less fetal movement at 38 weeks of gestation.

A survey of folic acid use in primigravid women.

A convenience sample of 320 consecutive primigravid women attending the antenatal clinic of a large Sydney tertiary referral hospital were invited to take part in a survey of folic acid use in pregnancy. The aim of the survey was to determine the number of primigravid women who commenced taking folic acid supplementation at least 1 month prior to conception. In addition the survey sought information on women's source of knowledge about the need for folic acid in pregnancy and whether their pregnancy was planned or unplanned.

Heterotopic pregnancy: a growing diagnostic challenge.

This report describes a 26-year-old female who presented at 5 weeks of gestation with intrauterine pregnancy after gonadotrophin stimulation and intrauterine insemination. The patient complained of abdominal pain, abdominal distension and nausea diagnosed as moderate ovarian hyper-stimulation syndrome (OHSS) with early pregnancy and was treated accordingly. The patient was readmitted at 7 and 9 weeks of gestation with persistent left lower abdominal pain.

Gestational gigantomastia.

A case of massive hypertrophy of the breasts in pregnancy was seen in our institution, which is a tertiary referral centre for the United Arab Emirates region with a delivery rate of 7000/year. It is a very rare condition (1 in 100000) and the only case seen in our hospital over the past 20 years. No similar case has been reported from the United Arab Emirates or Gulf regions, to our knowledge.

Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.

Two common classes of deletions are described in the literature in individuals with Prader-Willi/Angelman syndrome (PWS/AS): one between breakpoint 1 (BP1) to BP3 and the other between BP2 to BP3 of the PWS/AS critical region on chromosome 15q11-->q13. We present here a novel observation of an approximately 253-kb deletion between BP1 and BP2 on 15q11.2, in a 3(1/2)-year-old boy, who was referred to us with a clinical suspicion of having Angelman syndrome and presenting with mental retardation, neurological disorder, developmental delay and speech impairment.

New approaches to fluorescence in situ hybridization.

Fluorescence in situ hybridization (FISH) is a nonisotopic labeling and detection method that provides a direct way to determine the relative location or copy number of specific DNA sequences in nuclei or chromosomes. With recent advancements, this technique has found increased application in a number of research areas, including cytogenetics, prenatal diagnosis, cancer research and diagnosis, nuclear organization, gene loss and/or amplification, and gene mapping. The availability of different types of probe and the increasing number of FISH techniques has made it a widespread and diversely applied technology.

Molecular heterogeneity of beta-thalassemia in the United Arab Emirates.

The beta-thalassemia alleles in 313 national patients of the United Arab Emirates (UAE) have been characterized using PCR-based DNA-diagnostic techniques including DNA sequencing. A total of 212 patients had homozygous beta-thalassemia and the remaining 101 were compound heterozygotes. More than half of the patients were homozygous for the IVS-I-5 (G-->C) mutation followed by the sickle cell gene.

Genotype-phenotype correlation of sickle cell disease in the United Arab Emirates.

We have identified the beta s-globin gene haplotypes of 85 patients with sickle cell disease attending the Dubai Thalassemia Center and assessed the influence of haplotype, alpha-thalassemia, and fetal hemoglobin on the clinical presentation. Identification of the beta s haplotypes was based on mutation analyses in the promoter sequences of the G gamma- and A gamma-globin genes. The Arabian-Indian haplotype was found in 52% of the beta s chromosomes, whereas the remaining were the Bantu and Benin haplotypes.

Recurrent spontaneous perforation of intestinal lymphoma.

The possibility of intestinal lymphoma should be kept in mind when operating upon an immunodeficient child with an intestinal perforation without apparent reason; the phenomenon can recur during the post-operative period without being recognized early.

A postoperative follow-up study of infantile coarctation of the aorta.

Follow-up investigations were performed in 16 patients operated on for coarctation during infancy. The follow-up period ranged from 4.5 to 11 years (median 5.