[Prenatal diagnosis of abdominal wall defects]. / Diagnostic anténatal des anomalies de la paroi abdominale antérieure.

Anterior abdominal wall defects (AAWD) correspond to a wide spectrum of congenital defects affecting 6.3/10,000 pregnancies. They have in common a closure defect of the anterior abdominal wall and can be fatal or expose the fetus and the neonate (NN) to many complications. This study was based on a retrospective study of 22 cases of AAWD collected between May 2009 and December 2014. Its purpose was to specify the importance of prenatal ultrasonography in the diagnosis and prognosis assessment of these defects. These 22 AAWDs consisted in 13 cases of omphalocele (including four cases of Beckwith-Wiedemann syndrome), four of gastroschisis, one of pentalogy of Cantrell, three of vesical exstrophy and one of cloacal exstrophy. Prenatal ultrasonography provided the diagnosis of 14 of these defects with a changing sensitivity with the gestational age varying from 17% in the first trimester to 71.4% and 77.8% in the second and third trimesters, respectively. The relevance of this examination was improved when performed by an imaging specialist. The prenatal diagnosis of these defects indicated an amniocentesis in eight cases, allowing the diagnosis of two cases of trisomy 18. It also motivated a therapeutic termination of the pregnancy (TTP) in ten cases. Prenatal ultrasonography allowed better prenatal follow-up and planning of the delivery of the continued pregnancies. It indicated an emergency C-section in only one case by showing intestinal complications of gastroschisis. Four NNs died (two cases of omphalocele and two of gastroschisis), three of which postoperatively and the prenatal diagnosis did not improve survival. Prenatal ultrasonographic diagnosis provided a precise morphological study determining the type of the AAWD, a complete malformation assessment, and the prognosis factors. This resulted in adequate multidisciplinary pre and postnatal care, including a rigorous ultrasound follow-up, a TTP in case of associated defects, and emergency delivery once the complications of poor diagnosis are detected.

Sanjad-Sakati syndrome in a Tunisian child.

Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and mental retardation associated with seizures and a characteristic physiognomy. SSS molecular pathology has been shown to be due to mutations in the TBCE gene on chromosome 1q42-q43. All affected patients of Arab origin are homozygous for a 12-bp (155-166del) deletion in exon 3 of this gene. We report on a Tunisian child with SSS who was homozygous for the 155-166del mutation. Our findings provide additional support of the common (155-166del) deletion founder effect in exon 3 of the TBCE gene in Arab patients. It is very likely that this mutation originated in the Middle East and was introduced in Tunisia by the Banu Hilal invaders.

[Evaluation of administration errors of injectable drugs in neonatology]. / Évaluation des erreurs d'administration des médicaments injectables en néonatologie.

OBJECTIVE: Use of injectable drugs in newborns represents more than 90% of prescriptions and requires special precautions in order to ensure more safety and efficiency. The aim of this study is to gather errors relating to the administration of injectable drugs and to suggest corrective actions. METHODS: This descriptive and transversal study has evaluated 300 injectable drug administrations in a neonatology unit. Two hundred and sixty-one administrations have contained an error. Data are collected by direct observations of administrative act. RESULTS: Errors observed are: an inappropriate mixture (2.6% of cases); an incorrect delivery rate (33.7% of cases); incorrect dilutions (26.7% of cases); error in calculation of the dose to be injected (16.7% of cases); error while sampling small volumes (6.3% of cases); error or omission of administration schedule (1% of cases). CONCLUSION: These data have enabled us to evaluate administration of injectable drugs in neonatology. Different types of errors observed could be a source of therapeutic inefficiency, extended lengths of stay or iatrogenic drug. Following these observations, corrective actions have been undertaken by pharmacists and consist of: organizing training sessions for nursing; developing an explanatory guide for dilution and administration of injectable medicines, which was made available to the clinical service. Collaborative strategies doctor-nurse-pharmacist can help to reduce errors in the medication process especially during his administration. It permits improvement of injectable drugs use, offering more security and better efficiency and contribute to guarantee ideal therapy for patients.

[Respiratory disorders among late-preterm infants in a neonatal intensive care unit]. / Morbidité respiratoire des prématurés tardifs dans une unité de soins intensifs néonatale.

INTRODUCTION: The rate of infants born at 34-36 weeks of gestation has increased over the last 20 years. These babies are at higher risk of morbidity, particularly respiratory, than full-term infants are. The purpose of this study was to describe the respiratory morbidity of late-preterm infants and identify risk factors. PATIENTS AND METHODS: This was a descriptive, single-center study including 273 late-preterm infants born in a tertiary care hospital between July 2009 and December 2010. RESULTS: Of the mothers who delivered, 53.9% had morbidity. The cesarean-section delivery rate before labor was 20.9%; the main indication was fetal growth restriction (34%). Sixty-four percent of newborns had morbidity during their hospitalization and 23.1% suffered from respiratory distress. Mechanical ventilation was needed in 4.4% of the infants. Respiratory distress was mainly caused by early-onset sepsis or transient tachypnea. Ten infants presented with respiratory distress syndrome, of whom seven received a surfactant. Neonatal respiratory distress risk factors were gestational age, sex, and prelabor cesarean section (P<0.05). CONCLUSION: Late-preterm infants have an increased risk of respiratory disorders requiring ventilation. Elective cesarean should be limited if possible during this period.

High frequency of autoimmunization among transfusion-dependent Tunisian thalassaemia patients.

BACKGROUND: Limited data are available on the frequency of RBC alloimmunization and autoimmunization in transfusion-dependent Tunisian ß thalassaemia patients. MATERIALS AND METHODS: We analyzed the clinical and transfusion records of 130 patients (57 females and 73 males; mean age 119 months; range 12-11 months) with ß thalassaemia major and who had regular blood transfusions for periods ranging from 12 to 311 months. RESULTS: Of the 130 patients, ten (7.7%) developed RBC alloantibodies. The most common alloantibodies were directed against antigens in the Rh systems. Erythrocyte-autoantibodies as determined by a positive direct antiglobulin Coombs test, developed in 52(40%) patients with and without underlying RBC alloantibodies, thereby causing autoimmune haemolytic anaemia in eleven patients (21%). CONCLUSIONS: Autoimmunization to erythrocyte antigens is a frequent complication in patients with ß thalassaemia major. Several factors might have contributed to the high autoimmunization rate observed in this study, including non phenotypic blood exposure and alloantibody formation prior to positive Coombs test.

[HFE gene mutations in Tunisian major beta-Thalassemia and iron overload]. / Mutations du gène HFE chez des beta-thalassémiques majeurs tunisiens et surcharge en fer.

OBJECTIVES: In this study we have determined the allele frequency of HFE mutations H63D and C282Y in a group of Tunisian beta-thalassemia major patients. These two mutations are implicated in hereditary hemochromatosis among Caucasians. In this study we wanted to correlate these mutations with the iron status in major beta-thalassemia patients. DESIGN AND METHODS: Fifty Tunisian major beta-thalassemia were screening for the C282Y and H63D by digestion of polymerase chain reaction products (RFLP). Serum ferritin level was measured by immunoenzymatic microparticular essay. RESULTS: The allele frequency of H63D mutation was 17%. C282Y mutation was not present in our studied patients. No statistically significant difference of serum ferritin level was found between major beta-thalassemia with and without HFE mutations. CONCLUSION: Our results suggest that H63D mutation is so frequent in Tunisian major beta-thalassemia patients than in the general population and that the coinheritance of H63D mutation does not influence the severity of iron overload in these patients.

[Quality control of platelet concentrates: experience of Sousse (Tunisia) blood centre]. / Contrôle de qualité des concentrés plaquettaires: expérience du centre de transfusion de Sousse (Tunisie).

The aim of this prospective study was to control the quality of platelet concentrates prepared in Sousse blood centre: standard platelet concentrates (SPC) and apheresis platelet concentrates (APC) in order to detect anomalies and apply corrections. The quality control included three parameters: pH, volume, cells count: platelets, residual white blood cells (WBC) and red blood cells (RBC). The SPC pH was measured with pH meter, samples were obtained at the end of shelf-life by the destructive method. The control of SPC cells count was determined with a Beckman coulter, samples were collected by the stripping method. The APC quality control was assessed in the same conditions than those described for SPC but samples were collected by the transfer method. Quality control results were compared to Europe standards. During a period of six months (July-December 2002), 475 SPC (16% of the production) and 36 APC (60% of the production) were controlled. More than 95% of the SPC meet standards in regard to pH, volume and residual WBC count. However, the number of platelets and residual RBC meet standards respectively in 58% and 42% of SPC. All the APC meet standards for the three quality parameters. In conclusion, in order to improve the quality of our SPC, in regard to the number of platelets and residual RBC, two actions are respectively necessary to satisfy requirements: collecting the appropriate volume of whole blood and controlling the separation technique.