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.

[Perinatal varicella: fetal and neonatal risks and management]. / La varicelle périnatale: risques et prise en charge fœtale et néonatale.

The occurrence of clinical varicella during pregnancy is rare but it may pose maternal and fetal risks. Perinatal maternal varicella may result in potentially severe neonatal varicella, especially when maternal eruptions occur between 5 days before and 2 days after delivery. We report eight cases of newborns of mothers with varicella in the peri-partum period in order to synthesize the current state of knowledge on the risk of contracting virus as well as to develop treatment protocol. We conducted a descriptive study at the Maternity and Neonatology Center, Sousse, over a period of 10 years. Eight newborns were included in the study. Prenatal diagnosis was made in 7 mothers. Only a woman developed varicella 3 days after delivery. Five newborns were symptomatic on admission. All newborns had typical varicella skin lesions, three of them had respiratory distress associated. Treatment was based on newborn isolation, local skin care and Acyclovir therapy. Patients evolution was favorable. The occurrence of varicella infection during pregnancy remains possible in the countries where vaccination is still not accessible to all. The risk of maternal and fetal complications justifies specific and well codified treatment.

Incidence of congenital heart disease in newborns after pulse oximetry screening introduction.

INTRODUCTION: Congenital heart defects are the most common congenital malformations in the newborn with an estimated incidence ranging between 6-9 ‰. In Tunisia, this incidence reaches 1.9 ‰. This can be explained by misdiagnosed cases. In fact, the diagnosis is based mainly on clinical examination which allows making the diagnosis only in 50 in 75 % of the cases. Several studies showed the interest of pulse oximetry oximeter in the screening of cyanogenic and duct dependent congenital heart diseases. The Objective of our work is to determine the incidence of congenital heart diseases screened by physical examination coupled with the measure of transcutaneous saturation Methods:  forward-looking and descriptive Study, concerning all the births of the central maternity of Sousse, during a period of 12 months. We have measured transcutaneous saturation of all the newborn children in association to routine physical, examination. This study aimed to screen congenital heart disease and then calculate their incidence. RESULTS: during the period of the study 10447 newborn children had been born in the central maternity of Sousse. Among whom, 26 had a congenital heart defect. The incidence of the neonatal cardiac malformations in our current study was found in 2.77 ‰ of alive births. It was about 1.1 ‰ of newborns in a similar study practised in 2009 (Chi2=76.2 et p<10-4). The heart disorder was diagnosed following the grip taking of the only percutaneous saturation in 5 newborn children and following the clinical examination in 21. CONCLUSION: the measure of the transcutaneous saturation in the first day of life is a little expensive and specific method for the early screening of the duct dependent cardiac malformations.

[Role of lymphatic scintigraphy and surgery in congenital chylothorax]. / Intérêt de la scintigraphie lymphatique et place de la chirurgie dans les chylothorax congénitaux.

Chylothorax is defined as accumulation of lymphatic fluid in the pleural space. Chylothorax in the neonatal period can be classified into three distinct categories: congenital chylothorax (CC), syndromic or malformative chylothorax (MC) and postoperative chylothorax (CO). Although rare, chylothorax is the most common cause of pleural effusions in the neonatal period. Making a positive diagnosis is easy by examination of the pleural fluid, but its mechanism and especially the integrity of thoracic duct and its collateral branches is sometimes difficult to determine. Lymphoscintigraphy is the test of choice in etipathogenic diagnosis. This diagnostic tool can be coupled, if possible, to SPECT-CT (single photon emission tomography / computed tomography) providing more specific anatomical informations. Tratment of chylothorax is based on the drainage of the pleural fluid, the suppression of dietary fats and on parenteral nutrition. Surgery is recommended in the case of medical treatment failure. We report the case of a newborn with unilateral chylothorax who did not respond to medical treatment. Lymphoscintigraphy allowed to diagnose etiopathogenic mechanism underlying chylothorax and therefore to direct surgical treatment.

[Severe community acquired pneumonia due to Staphylococcus aureus in children. About two cases]. / Pneumonies staphylococciques graves de l'enfant. A propos de deux observations.

The staphylococcal pneumonia is the prerogative of the infant but rare cases were observed in the childhood. We report the observation of two children aged respectively of six years and three years and a half having presented a particular form of severe staphylococcal pneumonia apart from any context of immunodepression. The identification of the particular strains producing toxins Like the Panton and Valentine leukocidin constitutes the first stage of the comprehension of this atypical form of pneumonia. Through these observations and with a review of literature we underline the specific clinical and biological aspects of this form.