New Born Screening of Hemoglobinopathies in a Center Tunisian Population.

Sickle cell diseases, ß-thalassemia, and other hemoglobinopathies are common in Africa. Their distribution differs from one region to another. There are higher frequencies in Western and Northern Africa. Their clinical complications presented a real public health problem in each country. For this, early treatment can improve the severity of these diseases. Hemoglobinopathies targeted by screening are associated with SCD, ß, and α thalassemia. Our study aim is to report our experience with newborn screening for hemoglobinopathy in Tunis. The 156 newborn's cord blood was collected at the time of childbirth in the center region (Farhat Hached Hôspital). We opted for hemoglobin exploration to achieve maximum efficiency and effectiveness in screening. After that, all patients suspected to have hemoglobinopathies are affected by molecular investigation. Our findings showed the presence of some hemoglobinopathies such as ß-thalassemia and α-thalassemia with the following frequencies: 12% and 0.33%. The molecular results show the presence of HBB: c.93-21G>A, IVS-I-110G>A, HBBc. -106G>A -56G>C, HBBc.404T>C, Hb Yaounde described for the first time in Tunisia and α 3,7 . In conclusion, newborn screening diagnoses neonates with different examples of hemoglobinopathies, which will be beneficial not only for the care of the child but also for genetic counseling of the potential risk's parents.

[Assessment of quality of sexual life in women after breast cancer treatment: about 100 cases]. / Evaluation de la sexualité chez des femmes atteintes d'un cancer du sein après traitement: à propos de 100 cas.

Breast cancer is the most common neoplastic disease in women. Several treatment strategies are used: chemotherapy, radiotherapy, surgery and hormone therapy. Each of these treatments may affect sexual health of patients in the short or long term. The purpose of our study is to assess the quality of sexual life in women after breast cancer treatment. We made a quantitative descriptive estimate of 100 sexual active patients followed up for non-metastatic breast cancer, met during their consultations with a gynaecologist at the Farhat Hached hospital in Sousse. Data collection was carried out using an information sheet and two validated scales: RSS (relation Ship and sexual) and BESAA (Body EsteemScale for adolescents and Adults) to assess the quality of sexual life and body image. The average age of patients was 53.8 years. About half of patients (48%) had impaired sexuality due to the disease. The frequency of intercourse, sexual desire and the ability to reach orgasm were decreased in 65. 45, and 54 patients, respectively. The overall score for the three body image dimensions was 49.4. Women aged between 35 and 39 years were significantly more afraid of sexual intercourse (p=0.002) and less of sexual frequency (p=0.004). Adequate and enhanced training focused on the management of women with cancer and their sexual problems and multidisciplinary approach can improve women's psychological status.

Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother.

The caudal regression syndrome is defined as total or partial agenesis of the sacrum and lumbar spine, frequently associated with other developmental malformations (orthopedic, neurological, genito-urinary, gastrointestinal…). Prenatal diagnosis is possible through fetal ultrasound (US) and magnetic resonance imaging (MRI). A case of fetal caudal regression syndrome with omphalocele from a diabetic mother is presented, demonstrating the sonographic, MRI, CT and X-Ray features diagnostic. We will also discuss neonatal findings, risk factors and prognosis of this condition.

[Adnexal torsion during the second trimester of pregnancy: about two cases]. / Torsion d'annexe au second trimestre de la grossesse, à propos de deux cas.

Acute pelvic pain during pregnancy makes the differential diagnosis more challenging. We here report two cases of adnexal torsion during the second trimester of pregnancy in order to draw attention to this diagnosis and to highlight the importance of early treatment to avoid irreversible damages due to ischemia which can be fertility-threatening. The first patient, G1P0, 20 weeks pregnant, initially presented with appendix syndrome. Exploration with a small McBurney incision showed a right ovarian necrosis, hence ovariectomy was performed. The postoperative course was uneventful. The second patient, G2P2, 26 weeks pregnant, presented to the emergency departments with acute left iliac fossa pain. Laparotomy revealed the torsion of a hydatid of Morgagni whose necrotic appearance due to twisting required hydatid ablation. No postoperative complications were noted in the two patients. Adnexal torsion is an emergency condition that should not be ignored in the case of acute pelvic pain in pregnant women. Conservative treatment represents the gold standard and proper management is necessary to avoid possible maternal and fetal complications.