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1.
J Neonatal Surg ; 5(4): 60, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27896168

RESUMEN

Duodenal atresia is rarely associated with situs inversus abdominus. We report a case of duodenal atresia associated with small bowel atresia of apple peel type and situs inversus abdominus.

2.
Arch Pediatr ; 23(9): 908-12, 2016 Sep.
Artículo en Francés | MEDLINE | ID: mdl-27369101

RESUMEN

BACKGROUND: The reliability of blood glucose monitoring in neonatology is not always confirmed. The aim of this study was to evaluate the reliability of blood glucose measurements made with three different devices in newborns. PATIENTS AND METHODS: The study was prospective, conducted in a medical and neonatal intensive care department over a period of 4 months. Capillary glucose level was measured with three different glucometers and compared with venous glucose level determined using the hexokinase method. An ANOVA and Scheffe test were used for the correlation analysis. RESULTS: Three hundred and nine infants were included, with a mean age of 55h and a mean term of 39 weeks of gestation. Mean blood glucose in the laboratory was 0.62±0.15g/L, 0.71±0.17g/L for Accu-Chek(®) Active, 0.80±0.17g/L for Accu-Chek(®) Performa, and 0.83±0.12g/L for Bionime. An ANOVA showed statistically significant differences between the measurements made by glucometers compared to the reference blood glucose levels, and the Scheffé method showed that glucometers overestimated the real plasma glucose levels. CONCLUSION: None of the devices used in this study was satisfactory. However, an estimation of blood glucose taking into consideration this numerical overestimation would allow early detection of hypoglycemia.


Asunto(s)
Análisis Químico de la Sangre/instrumentación , Glucemia/análisis , Sistemas de Atención de Punto , Capilares , Humanos , Recién Nacido , Estudios Prospectivos
3.
Pathol Biol (Paris) ; 63(3): 113-6, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25910686

RESUMEN

OBJECTIVE: The present study is aimed at performing the molecular characterization of a Tunisian family with piebaldism. METHODS: As the proband and her mother showed a severe phenotype, we first chose to screen exons 10, 11, 12, 13, 16, 17 and 18 of the KIT proto-oncogene by direct sequencing. RESULTS: Direct sequencing analysis showed a C to T substitution at 1939 in exon 13 (c.1939C>T) in heterozygous state in the patient and her mother. The mutation was not found in their unaffected family members or normal controls. CONCLUSION: Our results provide additional support that mutations in the tyrosine kinase domain of the KIT gene are responsible for the severe form of piebaldism.


Asunto(s)
Mutación Missense , Piebaldismo/genética , Mutación Puntual , Proteínas Proto-Oncogénicas c-kit/genética , Sustitución de Aminoácidos , Dominio Catalítico , Exones/genética , Femenino , Humanos , Lactante , Masculino , Fenotipo , Estructura Terciaria de Proteína , Proto-Oncogenes Mas , Análisis de Secuencia de ADN , Túnez
4.
Arch Pediatr ; 22(4): 387-9, 2015 Apr.
Artículo en Francés | MEDLINE | ID: mdl-25727474

RESUMEN

The onset of Graves disease during pregnancy exposes the neonate to the risk of hyperthyroidism. The newborn must be monitored and treatment modalities known to ensure early treatment of the newborn. We report on the case of an infant born at term of a mother with Graves disease discovered during pregnancy. He was asymptomatic during the first days of life, before declaring the disease. Neonatal hyperthyroidism was confirmed by hormonal assays. Hyperthyroidism was treated with antithyroid drugs and propranolol with a satisfactory clinical and biological course. Neonatal hyperthyroidism should be systematically sought in infants born to a mother with Graves disease. The absence of clinical signs during the first days of life does not exclude the diagnosis. The duration of monitoring should be decided according to the results of the first hormonal balance tests.


Asunto(s)
Enfermedad de Graves , Hipertiroidismo/etiología , Complicaciones del Embarazo , Femenino , Humanos , Hipertiroidismo/diagnóstico , Hipertiroidismo/tratamiento farmacológico , Recién Nacido , Masculino , Embarazo
5.
Arch Pediatr ; 21(2): 157-61, 2014 Feb.
Artículo en Francés | MEDLINE | ID: mdl-24377873

RESUMEN

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.


Asunto(s)
Unidades de Cuidado Intensivo Neonatal/estadística & datos numéricos , Síndrome de Dificultad Respiratoria del Recién Nacido/epidemiología , Causalidad , Cesárea/estadística & datos numéricos , Estudios Transversales , Femenino , Edad Gestacional , Humanos , Masculino , Embarazo , Complicaciones del Embarazo/epidemiología , Surfactantes Pulmonares/uso terapéutico , Respiración Artificial/estadística & datos numéricos , Estudios Retrospectivos , Factores de Riesgo , Sepsis/epidemiología , Factores Sexuales , Centros de Atención Terciaria , Túnez , Revisión de Utilización de Recursos/estadística & datos numéricos
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