Alpha thalassemia allelic frequency in Lebanon.

BACKGROUND: Hemoglobinopathies are the most common reported monogenic disorders worldwide. It is well established that Mediterranean and Arab countries are high risk areas for thalassemia in general, and for alpha thalassemia in particular. Reports of alpha thalassemia gene mutations from the Lebanese population are limited. PROCEDURE: We investigated the spectrum of alpha thalassemia mutations in a sample of 70 unrelated Lebanese families. Six different mutations of alpha thalassemia gene were identified. RESULTS: The most prevalent mutations were the single gene deletion -α(3.7) (43%) and the non-gene deletion α2 IVS1 [-5nt] (37%). The double deletional determinant -(MED) was detected only in 14% of thalassemic chromosomes. CONCLUSION: We determined the mutational spectrum of alpha thalassemia which might be used in the future for molecular investigations of the disease in susceptible patients in our population.

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.

Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations in EVC and EVC2 genes. Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in the EVC2 gene, c.2653C>T (p.(Arg885(*))) and c.2012_2015del (p.(Leu671(*))) in exons 15 and 13, respectively, with the latter being reported for the first time. Conclusion. Although EvC has been largely described in the medical literature, clinical features of this syndrome vary. While more research is required to explore other genes involved in EvC, early diagnosis and therapeutic care are important to achieve a better quality of life.

Intimate Partner Violence in a Lebanese Population Attending Gynecologic Care: A Cultural Perspective.

Occurrence of intimate partner violence (IPV) against women in the Lebanese society has been largely ignored by local legal and religious authorities. Our aim is to estimate the prevalence of IPV among married Lebanese women, and investigate perception of abuse, referral patterns, and measures taken to deal with abusive situations. In this cross-sectional study, married women aged 20 to 65 presenting to the American University of Beirut Medical Center for gynecological care were interviewed on various forms of IPV. Out of 100 women invited to participate, 91 consented to take part in the survey of whom 37 (40.67%) gave a history of physical abuse, 30 (33.0%) of sexual abuse, 59 (64.8%) of verbal abuse, and 17 (18.7%) of emotional abuse. Spouse-imposed social isolation was reported in 20 (22.0%) women, and economic abuse in 30 (33.0%). Reasons for deciding to stay in an abusive relationship were "lack of any family or social support" (40.5%), "lack of financial resources" (40.5%), and "fear that the partner may take away the children" (37.8%). Women expressed satisfaction with their spouse's treatment irrespective of the existence of various forms of violence. A significant increase in the risk of weapon use against wife was correlated with decreased monthly income of the household, whereas a protective effect was conferred by an increased number of children. This study highlights the need for routine screening in health care settings for better identification of victims of violence. The selective conventional perception of abuse and the reactive normalization of violence observed indicate the necessity for culturally informed interventional strategies to complement screening.

Accidental Electric Shock during Pregnancy: Reflection on a Case.

Objectives Data on fetal effects following accidental electric shock during pregnancy are scarce. We report on a case of accidental maternal electric shock associated with benign fetal arrhythmia in a woman at 28 weeks' gestation. Study Design Case report. Results Although electrocution involving low-voltage, low-frequency current has been associated with fatal cardiac arrhythmias and conduction abnormalities, two protective parameters in the present case likely reduced the fetal injury: the dry skin at the site of current entry and the hand-to-hand pathway of current flow. Conclusion Because the pathophysiology of electric injury is altered during pregnancy, assessment of fetal well-being should be prompted no matter how trivial an incident may appear.

Abdominal Wall Desmoid during Pregnancy: Diagnostic Challenges.

Background. Desmoids are benign tumors, with local invasive features and no metastatic potential, which have rarely been described to be pregnancy associated. Case. We described the rapid growth of an anterior abdominal wall mass in a 40-year-old pregnant woman. Due to its close proximity to the enlarged uterus, it was misdiagnosed to be a uterine leiomyoma by ultrasound examination. Final tissue diagnosis and radical resection were done at the time of abdominal delivery. Conclusion. Due to the diagnostic limitations of imaging techniques, desmoids should always be considered when the following manifestations are observed in combination: progressive growth of a solitary abdominal wall mass during pregnancy and well-delineated smooth tumor margins demonstrated by imaging techniques. This case emphasizes the importance of entertaining uncommon medical conditions in the differential diagnosis of seemingly common clinical manifestations.