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1.
Arch Pediatr ; 24(10): 917-924, 2017 Oct.
Artigo em Francês | MEDLINE | ID: mdl-28890277

RESUMO

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.


Assuntos
Parede Abdominal/anormalidades , Parede Abdominal/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Feminino , Humanos , Gravidez , Estudos Retrospectivos , Adulto Jovem
2.
Arch Pediatr ; 22(9): 951-5, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26231322

RESUMO

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.


Assuntos
Anormalidades Múltiplas/genética , Éxons , Face/anormalidades , Transtornos do Crescimento/genética , Hipoparatireoidismo/genética , Recém-Nascido Prematuro , Deficiência Intelectual/genética , Chaperonas Moleculares/genética , Mutação , Osteocondrodisplasias/genética , Convulsões/genética , Anormalidades Múltiplas/diagnóstico , Biomarcadores/metabolismo , Feminino , Transtornos do Crescimento/diagnóstico , Humanos , Hipoparatireoidismo/diagnóstico , Recém-Nascido , Deficiência Intelectual/diagnóstico , Osteocondrodisplasias/diagnóstico , Nascimento Prematuro , Convulsões/diagnóstico , Tunísia
3.
Ann Pharm Fr ; 73(6): 461-70, 2015 Nov.
Artigo em Francês | MEDLINE | ID: mdl-25990871

RESUMO

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.


Assuntos
Erros de Medicação/estatística & dados numéricos , Neonatologia/normas , Esquema de Medicação , Composição de Medicamentos , Feminino , Humanos , Recém-Nascido , Injeções , Masculino , Sistemas de Medicação no Hospital , Soluções Farmacêuticas , Serviço de Farmácia Hospitalar , Estudos Prospectivos
4.
Arch Pediatr ; 21(2): 157-61, 2014 Feb.
Artigo em Francês | MEDLINE | ID: mdl-24377873

RESUMO

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.


Assuntos
Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Síndrome do Desconforto Respiratório do Recém-Nascido/epidemiologia , Causalidade , Cesárea/estatística & dados numéricos , Estudos Transversais , Feminino , Idade Gestacional , Humanos , Masculino , Gravidez , Complicações na Gravidez/epidemiologia , Surfactantes Pulmonares/uso terapêutico , Respiração Artificial/estatística & dados numéricos , Estudos Retrospectivos , Fatores de Risco , Sepse/epidemiologia , Fatores Sexuais , Centros de Atenção Terciária , Tunísia , Revisão da Utilização de Recursos de Saúde/estatística & dados numéricos
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