Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries.

Background: Diagnosis of monogenic diabetes has important clinical implications for treatment and health expenditure. However, its prevalence remains to be specified in many countries, particularly from South Europe, North Africa and Middle-East, where non-autoimmune diabetes in young adults is increasing dramatically.

Aims: To identify cases of monogenic diabetes in young adults from Mediterranean countries and assess the specificities between countries.

A Report on the Education, Employment and Marital Status of Thalassemia Patients from a Tertiary Care Center in the Middle East.

Very few reports in the literature have focused on the psychosocial status of patients with thalassemia. The aim of this study was to report on the education, employment, and marital status of thalassemia patients in Lebanon and potential influencing factors. A total of 228 patients from the Chronic Care Center, Hazmieh, Lebanon, were incorporated for the data analysis.

Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes.

Beta-thalassemia can present with a wide spectrum of phenotypes determined by the coinheritance of α-thalassemia, hereditary persistence of fetal hemoglobin, and polymorphic variants in the BCL11A, HMIP, and HBB clusters. The codon 29 (cd29) mutation in the beta gene has been associated with a broad diversity of thalassemia phenotypes, possibly through genetic modifiers determining the genotype-phenotype relationship. In this study, we evaluated the effect of 10 single nucleotide polymorphisms (SNPs) on β-thalassemia severity in a group of 21 Lebanese patients bearing the cd29 mutation.

Long-term safety and efficacy of deferasirox in young pediatric patients with transfusional hemosiderosis: Results from a 5-year observational study (ENTRUST).

Background: Children with red blood cell disorders may receive regular transfusions from an early age and consequently accumulate iron. Adequate iron chelation therapy can prevent organ damage and delayed growth/development. Deferasirox is indicated for treatment of pediatric patients with chronic iron overload due to transfusional hemosiderosis; however, fewer than 10% of patients in the registration studies were aged 2 to less than 6 years.

One-year results from a prospective randomized trial comparing phlebotomy with deferasirox for the treatment of iron overload in pediatric patients with thalassemia major following curative stem cell transplantation.

Background: Iron overload is well documented in patients with β-thalassemia major, and patients who have undergone hematopoietic stem cell transplantation (HSCT) remain at risk as a result of pre- and immediate post-HSCT transfusions.

Procedure: This is a prospective, randomized, 1-year clinical trial that compares the efficacy and safety of the once-daily oral iron chelator deferasirox versus phlebotomy for the treatment of iron overload in children with β-thalassemia major following HSCT.

Results: Patients (aged 12.

Exploring the Relationship Between Mild Traumatic Brain Injury Exposure and the Presence and Severity of Postconcussive Symptoms Among Veterans Deployed to Iraq and Afghanistan.

Objective: The aim of this study was to describe the association between mild traumatic brain injury (mTBI) and persisting postconcussive symptoms according to symptom category, number, and severity.

Design: The study design was observational.

Participants: The study sample comprised veterans (≥18 years of age) deployed in Operation Enduring Freedom and Operation Iraqi Freedom (OEF/OIF) conflicts who had not received any treatment for mTBI in the 30 days preceding study enrollment.

Preventing thalassemia in Lebanon: successes and challenges in a developing country.

Thalassemia continues to be a major health burden. The chronicity of the disease and the high cost of life-long treatment make prevention strategies crucial in the management of this disease. In this article, we revisit different successful prevention strategies, and underline the Lebanese model.

Predicting levels of independence with expressing needs and ideas 1 year after severe brain injury.

Purpose/objective: Severe brain injury (BI) is a catastrophic event often evolving into a complex chronic and severely disabling condition making activity participation possible only with sustained caregiving. One aspect of building sustainable caregiving is early provision of information about expected outcomes germane to patients and their caregivers. An analysis was conducted to determine whether 2 levels of independence with expressing needs and ideas 1-year after severe BI could be predicted using variables available early after injury.

Medical comorbidities in disorders of consciousness patients and their association with functional outcomes.

Objective: To identify, for patients in states of seriously impaired consciousness, comorbid conditions present during inpatient rehabilitation and their association with function at 1 year.

Design: Abstracted data from a prospective cross-sectional observational study with data collection occurring January 1996 through December 2007.

Setting: Four inpatient rehabilitation facilities in metropolitan areas.

Predictive value of the Disorders of Consciousness Scale (DOCS).

Objective: To examine the predictive validity of measures of neurobehavioral change derived from the Disorders of Consciousness Scale (DOCS) for predicting return to consciousness 4, 8, and 12 months after severe brain injury (BI).

Design: Prospective observational predictive validity study

Setting: Inpatient rehabilitation hospitals and postrehabilitation residence

Participants: A total of 113 persons with a mean age of 38 +/- 17.8 years who were unconscious for >28 days consecutively after severe BI; 73% (83/113) with traumatic BI and 27% (30/113) with other BI.

Adjusting the basal insulin regimen of patients with type 1 diabetes mellitus receiving insulin pump therapy during the Ramadan fast: A case series in adolescents and adults.

Background: Ramadan, the ninth month of the Islamic lunar calendar, is the holy month of fasting for adolescent and adult Muslims. Observance of Ramadan is considered obligatory for every healthy adult Muslim. During this time, Muslims refrain from eating, drinking, smoking, and administering oral or parenteral medications from sunrise to sunset daily for 28 to 30 days.

Acceptance of preimplantation genetic diagnosis for beta-thalassemia in Lebanese women with previously affected children.

Objective: The aim of the study was to assess the rate of acceptance of preimplantation genetic diagnosis (PGD) as an alternative to prenatal diagnosis in Lebanese women with previously affected children with homozygous beta-thalassemia.

Methods: Women with a previously affected child attending a non governmentally funded thalassemia care center between 1 June 2005 and 31 May 2007 were offered a genetic counseling session. This was followed by administering a questionnaire through direct interview.

Cystic fibrosis: a new mutation in the Lebanese population.

Background: Cystic fibrosis is the most common autosomal recessive disorder in Caucasians. Little has been reported on its occurrence in Arab and Lebanese populations where mutation distribution seems to differ from that of Europeans. We report on the occurrence of a frameshift mutation 4016insG in two Lebanese Muslim siblings, products of consanguineous parents.

Beta-thalassemia: the Lebanese experience.

Beta-thalassemia is a hereditary anemia that is quite prevalent in Lebanon. Most patients with beta-Thalassemia are treated and followed up mostly at a multidisciplinary center, located in the suburban area of Beirut: the Chronic Care Center (CCC), operational since 1994. We will review the experience with beta-Thalassemia accumulated through this institution.

Efficacy and tolerability of peginterferon alpha-2a with or without ribavirin in thalassaemia major patients with chronic hepatitis C virus infection.

Thalassaemia patients with genotype 1 or 4 chronic hepatitis C virus (HCV) infection were randomised to receive peginterferon alpha-2a 180 mg/week ribavirin for 48 weeks. Primary efficacy variable was sustained viral response (SVR) at 72 weeks. Thirty-two patients were evaluated; 20 enrolled.

Molecular basis of oculocutaneous albinism type 1 in Lebanese patients.

Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme. A large number of mutations have been identified worldwide, providing insight into the pathogenesis of the disorder. We performed ophthalmic and dermatological exams on 30 Lebanese subjects with oculocutaneous albinism, then screened for mutations in the tyrosinase gene in an effort to establish the molecular basis of the disorder in our population and correlate it with phenotypic findings.

Complex translocation (8;12;21): a new variant of t(8;21) in acute myeloid leukemia.

Variants of the t(8;21)(q22;q22) involving chromosomes 8, 21, and other chromosomes account for approximately 3% of all t(8;21)(q22;q22) in acute myeloid leukemia (AML) patients. In this paper, we report a case of AML-M2 with a t(8;12;21)(q22;p12 approximately p13;q22) associated with chromosomal abnormalities, including loss of the Y chromosome and trisomy 8q22 approximately qter. Using a dual-color fluorescence in situ hybridization (FISH) analysis with ETO and AML1 probes, we demonstrated an ETO/AML1 fusion signal on the derivative chromosome 8.

Accurate and rapid prenatal diagnosis of the most frequent East Mediterranean beta-thalassemia mutations.

Beta-thalassemia is the most common genetic disorder in the Lebanese population. Of the 200 different mutations in the beta-globin gene that leads to thalassemia, the IVSI-110 (29.87%), IVSI-6 (20.

No association between the -1031 polymorphism in the TNF-alpha promoter region and type 1 diabetes.

Tumor necrosis factor alpha (TNF-alpha) is an important immunomodulator and is believed to be involved in the development or progression of type 1 diabetes. In the following study, we evaluated TNF-alpha promoter polymorphisms at positions -863 and -1031 and their association with type 1 diabetes in a group of 210 diabetic patients from Lebanon. Our results show that in our population, the C allele is predominant at position -863, whereas the A allele is very rare (2%).

The codons 8/9 (+G) mutation found for the first time in the Lebanese population.

Thalassemia is a common inherited disease in the Mediterranean region. We here report a mutation new to the Lebanese population: the insertion of a G nucleotide at codons 8/9 [(+G) AAG-TCT (Lys-Ser) --> AAG-G-TCT (beta0)] of the beta-globin gene in a thalassemic patient with a mild phenotype. We discuss the possible factors that play a role in alleviating the severity of the disease in this case.

Beta-globin gene cluster haplotypes and HbF levels are not the only modulators of sickle cell disease in Lebanon.

Sickle cell disease (SCD) is an inherited autosomal recessive disorder of the beta-globin chain. Despite the fact that all subjects with SCD have the same single base pair mutation, the severity of the clinical and hematological manifestations is extremely variable. This study examined for the first time in Lebanon the correlation between the clinical manifestation of SCD and the beta-globin gene haplotypes.

Efficacy and side effects of deferiprone (L1) in thalassemia patients not compliant with desferrioxamine.

We report our experience with deferiprone (L1) (DFP) in 17 thalassemic patients, followed up in one center in Lebanon, who were initially on desferrioxamine and then shifted to DFP at a dose of 50-75 mg/kg/day as the sole chelator during 1-year follow-up. All 17 patients were compliant with therapy and there was no change in physical examination over the study period. Eight patients (47.