RESUMO
BACKGROUND: Wolf-Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm of chromosome 4. To establish a genotype-phenotype correlation; we carried out a molecular cytogenetic analysis on two Tunisian WHS patients. Patient 1 was a boy of 1-year-old, presented a typical WHS phenotype while patient 2, is a boy of 2 days presented an hypospadias, a micropenis and a cryptorchidie in addition to the typical WHS phenotype. Both the array comparative genomic hybridization and fluorescence in situ hybridization techniques were used. RESULTS: Results of the analysis showed that patient 2 had a greater deletion size (4.8 Mb) of chromosome 4 than patient 1 (3.4 Mb). Here, we notice that the larger the deletion, the more genes are likely to be involved, and the more severe the phenotype is likely to be. If we analyze the uncommon deleted region between patient1 and patient 2 we found that the Muscle Segment Homeobox (MSX1) gene is included in this region. MSX1 is a critical transcriptional repressor factor, expressed in the ventral side of the developing anterior pituitary and implicated in gonadotrope differentiation. Msx1 acts as a negative regulatory pituitary development by repressing the gonadotropin releasing hormone (GnRH) genes during embryogenesis. We hypothesized that the deletion of MSX1 in our patient may deregulate the androgen synthesis. CONCLUSION: Based on the MSX1 gene function, its absence might be indirectly responsible for the hypospadias phenotype by contributing to the spatiotemporal regulation of GnRH transcription during development.
RESUMO
AIMS: To describe the transport of sick neonates to a tertiary care hospital and evaluate their condition at arrival and outcome. METHODS: A multicenter, prospective cohort study was performed in 7 NICUs in Tunisia from 1st april to 31 July 2015.Demographic parameters, transport details and clinical features at arrival were recorded. All neonates were followed up till discharge or death. RESULTS: A total of 239 consecutive neonates were enrolled in the study representing 5.7% of all admitted infants. Maternal risk factors were present in 26% of neonates admitted. Sex-ratio was 1.46. Preterm infants represented 24% of transported babies. Seventeen percent of neonates had severe respiratory distress and 10% had hemodynamic troubles. Referred hospital was not informed in 24% of cases. Regarding the transport mode, 113 newborns (47.5%) were transported in ambulance accompanied by a nurse. Documentation during transfert was present in 14% of cases. Five babies expired on arrival despite resuscitation. Rate mortality was 8.4%. CONCLUSION: Transporting neonates in developing countries is a challenge. Organized transport services in Tunisia are not always available. So, in cases of at-risk pregnancy, it is safer to transport the mother prior to delivery than to transfer the sick baby after birth.
Assuntos
Recém-Nascido , Transporte de Pacientes , Adulto , Índice de Apgar , Feminino , Maternidades/organização & administração , Maternidades/normas , Maternidades/estatística & dados numéricos , Humanos , Lactente , Mortalidade Infantil , Recém-Nascido Prematuro , Unidades de Terapia Intensiva Neonatal/organização & administração , Unidades de Terapia Intensiva Neonatal/normas , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Masculino , Complicações do Trabalho de Parto/epidemiologia , Complicações do Trabalho de Parto/terapia , Transferência de Pacientes/organização & administração , Transferência de Pacientes/normas , Transferência de Pacientes/estatística & dados numéricos , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/terapia , Encaminhamento e Consulta/organização & administração , Encaminhamento e Consulta/normas , Encaminhamento e Consulta/estatística & dados numéricos , Centros de Atenção Terciária/estatística & dados numéricos , Transporte de Pacientes/normas , Transporte de Pacientes/estatística & dados numéricos , Tunísia/epidemiologia , Adulto JovemRESUMO
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.