[Neonatal screening of G6PD deficiency in Tunisia]. / Depistage neonatal du deficit en G6PD en Tunisie.

The Glucose-6-phosphate dehydrogenase (G6PI) deficiency is the most common enzymopathy worldwide. WHO had classified Tunisia among countries that are moderately affected by this affection. However, no mass-screening reflecting the real incidence was realized. The aim of this study is to determine the prevalence of this enzymopathy and its molecular basis in Tunisia. A total of 1102 neonates, born in CMNT center of Maternity and of Neonatology of Tunis during the going periods from April, 2005 till May, 2005 and from June, 2006 till September, 2006, have been enclosed in the study. The samplings included 953peripheral venous blood and 149 blood cordon. Among 1102 samplings, only 976 were of use to the screening. In our mass-screening, we consider all newborns that were born in the CMNT during the period of study and were included in the screening. A dosage of the enzymatic activity was realized using spectrophotometric method. G6PD electrophoresis and molecular study by PCR/RFLP were realized for the overdrawn newborn children. Among 976 screening neonates, 43 individuals (4.4%) were found to be G6PD deficient by quantitative enzyme assay. Newborn affected were distributed in 23 boys and 20 girls (sex ratio of 1.15). The electrophoretic mobility and the molecular biology were realized for the affected newborn. Molecular characterization of 30 G6PD deficient neonates revealed that the G6PD A- was the most common and was detected in 20 of 43 individuals (66.7%), followed by G6PD Mediterranean that was detected in 6 (13.3%). At least, 4 other unknown mutations were not able to be determined by PCR/RFLP (n=4). In conclusion G6PD deficiency is frequent in our country, justifying a systematic neonatal screening, to avoid the arisen of grave consequences of this affection. The African variant is the most frequent in our country followed by the Mediterranean one.

[Twin pregnancy with single fetal death: etiology, management and outcome]. / Grossesse gémellaire avec mort foetale in utero d'un jumeau : étiologies, prise en charge et pronostic.

INTRODUCTION: Intra-uterine fetal death (IUFD) of one twin is a relatively frequent complication of twin pregnancy. Prognosis of the surviving twin seems to be the main problem. Management is not consensual and suffers from the lack of guidelines. OBJECTIVES: To report the main involved etiologies, assess the surviving co-twin outcome and discuss strategies of management. PATIENTS AND METHODS: Retrospective study of 33 twin pregnancies complicated by single intrauterine fetal death after 26 weeks of gestation, admitted in the department "A" of obstetrics and gynecology of the Tunisian center of maternity and neonatalogy from January 2000 to October 2008. RESULTS: Prevalence was 2.98%. Chorionicity was precised for 28 GG; 67.9% (n=19) were bichorionic (BC) and 32.1% (n=9) monochorionic (MC). The mean gestational age at the time of fetal death diagnosis was 31 weeks+2 days. Main involved pathologies in case of BC pregnancy were: intrauterine growth restriction (36.8%), pre-eclampsia (21%) and gestational diabetes (15.8%) and in case of MC pregnancy: twin-to-twin transfusion syndrome (44.4%). Prematurity rate was 85.2%. IUFD of the second twin occurred in one case and neonatal death in six cases. Tranfontanellar ultrasound on the seventh day of life found cerebral abnormalities in six liveborns. CONCLUSION: Surviving co-twin prognosis was mainly compromised by prematurity and its consequences.

Stenotrophomonas maltophilia responsible for respiratory infections in neonatal intensive care unit: antibiotic susceptibility and molecular typing.

OBJECTIVE: The aim of this study was to investigate the molecular epidemiology of Stenotrophomonas maltophilia strains responsible for respiratory infection in a neonatal intensive care unit (NICU) in Tunis City, isolated during 22 months (December 2003-September 2005). MATERIALS AND METHODS: Twelve strains of S. maltophilia isolated from tracheal aspirates of distinct infants and two environmental strains were tested for antibiotic susceptibility and genotyped by pulsed-field gel electrophoresis (PFGE) method. RESULTS: Unlike a large heterogeneity demonstrated by the antibiotyping method, PFGE identified two concomitant outbreaks consisting of nine, including an environmental strain (clone A), and four strains (clone B), respectively; a distinguishable strain was classified in a unique pattern (PFGE type C). The long-term dissemination of these strains is a characteristic feature of these outbreaks. Improvement of hygienic conditions attributed to a markedly decrease in their isolation frequencies. Concomitant outbreaks and long period persistence of S. maltophilia in NICU is an important finding of this study. CONCLUSION: Identification of two clonal strains of S. maltophilia responsible of respiratory infection. Epidemic strains are hardly eradicated when colonization is established.

[Nosocomial respiratory infection due to an imipenem-resistant Pseudomonas aeruginosa O: 12 strain in a Tunis's neonatal intensive care unit]. / Epidémie d'infection respiratoire à Pseudomonas aeruginosa O: 12 résistante à l'imipénème dans une unité de réanimation néonatale à Tunis.

OBJECTIVE: Investigation of an outbreak caused by an imipenem-resistant Pseudomonas aeruginosa strain and research of its hospital reservoir. PATIENTS AND METHODS: Nine strains isolated from protected tracheal specimens during 14 weeks (October 2004 to January 2005) from 8 infants, and one strain from vacuum interrupter were studied. Epidemiological study was investigated by determination of antibiotics susceptibility, serotyping and Pulsed-field gel electrophoresis (PFGE). RESULTS: Strains were of O:12 serotype, they have the same antibiotype characterised by imipenem resistance. Strains were indistinguishable or closely related as determined by PFGE. The common source of P. aeruginosa O:12 strains was not determined, however eradication of the epidemic strain was obtained by amelioration of hygiene conditions and the change of disinfectors. CONCLUSION: Outbreak of respiratory infections due to an imipenem-resistant P. aeruginosa O:12. The common source of the epidemic strain was not determined.

[Diagnosis of holoprosencephalia. Report of 17 cases]. / Diagnostic de l'holoprosencephalie. A propos de 17 cas.

OBJECTIVE: To establish the epidemiologic profile of holoprosencephalia and determine benefits of ultrasound and foetopathologic examination to the diagnostic. METHODS AN MATERIAL: [corrected] Retrospective study about 17 cases of holoprosencephalia observed in CMNT between Janaury 1992 and September 2000. RESULTS: Ultrasound diagnosis was made in 13 cases (75%). Ultrasound criteria were; absence of median structure of the brain and unique ventricule. The prognosis was always bad. Foetopathologic examination revealed 7 cases of lobar holoproencephalia and 10 of semi lobar. Fascial dysmorphia were noted in 82% of cases. CONCLUSION: The foetopathology and genetic counselling looking for fascial, dysmorphia in family's members gives a good evaluation of recurrences.

[Fetal pathology study of 88 cases of letal spina bifida]. / Etude foeto-pathologique de 88 cas de spina bifida létaux.

Lethal spina bifida continue to be frequent in Tunisia; we report 88 cases of letal spina bifida: 1.05 per thousand births. This pathology was more frequent with women. The up letal spina bifida situated is predominant with female and the dow spina bifida situated is frequent with male. We have noted an association with anencephalia (46 cases) and hydrocephaly (21 cases). Prevention is based on obstetric health care and hygiene dietetic advices to avoid alimentary deficit.