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Biomedical subjects

S Samperiz

Publications and source records attributed to S Samperiz.

10 recordsLinked to original sources
PubMed2005

Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature.

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by coarse facies, diaphragmatic hernia, distal limb hypoplasia and malformations of the cardiovascular, gastrointestinal, genitourinary and central nervous systems. Diaphragmatic hernia is a leading diagnostic feature in Fryns syndrome, recorded in more than 80% of cases. We report a newborn with clinical features of Fryns syndrome except the diaphragmatic hernia. Cases of Fryns syndrome without diaphragmatic hernia are reviewed. Even in the absence of diaphragmatic hernia, pulmonary anomalies are described in Fryns syndrome, especially pulmonary hypoplasia. Fetal mice, exposed to nitrofen, have a high incidence of congenital diaphragmatic hernia and other malformations similar to that seen in Fryns syndrome. Nitrofen might target molecular mechanisms similar to those involved in Fryns syndrome.

Abnormalities, Multiple↗
PubMed2004

Peritoneal needle suction for intestinal perforation in the preterm neonate.

UNLABELLED: A few years ago, most intestinal perforations in the premature newborn appeared within the clinical context of necrotising enterocolitis (NEC). Since then, we have observed an increase in the number of isolated perforations appearing outside typical NEC. The fact that the perforations are more often isolated, and the healing capabilities of the premature intestine, led us to propose peritoneal needle suction (PNS) alone as first treatment for intestinal perforations in the premature neonate. MATERIALS AND METHOD: The charts of 6 consecutive premature infants presenting with intestinal perforations treated initially by PNS alone were reviewed. RESULTS: The patients' median birth weight was 1030 g, with a median gestational age of 27 weeks. In 5 out of 6 infants (83 %), PNS achieved complete exsufflation without recurrence of the pneumoperitoneum and complete intestinal healing, allowing complete enteral feeding 30 to 71 days after perforation. One infant with recurrent pneumoperitoneum after 3 PNS and peritoneal drainage was operated. All infants survived. CONCLUSION: We believe that for early perforations of the premature neonate, the poor diffusion of the infection and the frequent capacity of the perforation to close and subsequently heal without scars, favour a minimally invasive management using PNS.

Humans↗
PubMed2002

Antenatal diagnosis and management of a vallecular cyst.

Vallecular cysts are rare. It is important to be aware of their presence as they can cause upper airway obstruction. We describe a case of congenital vallecular cyst diagnosed at 28 weeks of gestation. This early diagnosis enabled us to plan careful perinatal management. We believe that, in cases of suspected oropharyngeal tumors, elective delivery should be carried out in a tertiary referral center in which emergency ventilation and tracheostomy are possible.

Adult↗
PubMed2002

[Prenatal diagnosis at 25 weeks gestation and neonatal management of a vallecular cyst].

Due to the anatomical location, vallecular cyst is a rare but well-recognized cause of upper airway obstruction and death in newborn. This cyst can be accurately diagnosed by echography in utero and by MR imaging. Prenatal diagnosis allows for early consultation with surgical specialist, so that the time and place of the delivery can be addressed for neonatal preoperative planning. We report the first prenatal diagnosis of a vallecular cyst at 25 weeks of gestation. At birth, the cyst was drained and then marsupialized. We believed that, in cases of oropharyngeal tumors discovered in utero, elective delivery should be realised in a tertiary referral center in which emergency ventilation and tracheostomy are possible.

Adult↗
PubMed2000

[Feingold syndrome].

BACKGROUND: Feingold syndrome is a combination of hand and foot anomalies, microcephaly, tracheo-esophageal fistula, esophageal/duodenal atresia, short palpebral fissures and developmental delay. The most frequent physical findings are clinodactyly of the second and fifth fingers with absent or hypoplastic middle phalanges, and syndactyly of the toes. Inheritance is autosomal dominant (MIM number 164280) with full penetrance concerning hand anomalies, variable expressivity and great intrafamilial variability. CASE REPORT: We report the case of an African boy with duodenal atresia, microcephaly, brachymesophalangy of the second and fifth fingers, unilateral thumb hypoplasia, bilateral syndactyly of toes 2-3 and amesophalangy of the toes. Karyotype was normal. No other member of the family was affected. A fresh mutation is possible. CONCLUSION: Brachymesophalangy affecting mainly the second and fifth fingers and amesophalangy of the lateral toes are cardinal clinical findings in Feingold syndrome. These clinical findings define the syndrome of brachydactyly A4-Temtamy type (MIM 112800), suggesting that brachydactyly A4 would be a partially expressed Feingold syndrome. The incidence of esophageal/duodenal atresia is 29%, including all the known cases. All karyotypes of reported patients were normal.

Abnormalities, Multiple↗
PubMed1997

[Early continuous positive pressure in the labor room].

BACKGROUND: Indication for intubation and mechanical ventilation in premature infants may be reduced by initiating continuous positive airway pressure (CPAP) in delivery room. POPULATION AND METHODS: Immediately after birth, respiratory support with CPAP was given to all infants with gestational age less than 32 weeks. In case of apnea or progressing symptoms with hypoxemia or carbonic acidosis, with PCO2 increasing to more than 60 mmHg, infants were treated with nasotracheal intubation and ventilation. RESULTS: One hundred and fifty one infants, with mean gestational age 29.6 +/- 1.9 weeks and mean birth weight 1,326 +/- 378 g were delivered in the obstetrical department of Marseille. In delivery room, 63% were treated with CPAP, and only 13% with nasotracheal intubation. The need for subsequent mechanical ventilation was reduced to 40% of the population. Surfactant therapy was used in 17% of this cohort. Two infants were given surfactant and extubated. Three of 14 deaths (9.2%) were caused by respiratory disease. CONCLUSIONS: Early CPAP reduces the indication of mechanical ventilation in premature infants. Incidence of pulmonary complications such as pneumothorax or bronchopulmonary dysplasia is low among those infants who require mechanical ventilation later. Early CPAP takes place in a general policy to decrease neonatal morbidity.

Delivery Rooms↗
PubMed1995

[Validation trial of a neonatal prophylactic antibiotic protocol in the delivery room].

Maternofetal infection occurs in 1 to 10 of every 1,000 newborns. Prognosis is poor and an extremely rapid the clinical course is sometimes observed. The situation suggests that widespread use of antibiotics and more than 90% of the newborns receiving antibiotics are not infected. A prospective study based on simple, recognized criteria predictive of maternal-fetal infection was conducted in 3,392 deliveries to evaluate the effect of an antibiotic prophylaxy protocol. Specificity, sensitivity, positive and negative predictive value were evaluated for each of the eleven criteria retained with the goal of increasing sensitivity and decrease the use of unnecessary antibiotics. Among the 3,392 infants delivered from January 1989 to December 1990, 286 (8.4%) newborns entered the study and were given mezlocillin (150 mg/kg/12 h). This treatment was stopped at 48 hours of life if the infant was not infected. RESULTS. Infection was confirmed in 48 of 3,392 infants (1.4%). All were in the risk group: 48/286 (16.7%). The germs the most often found were group B Streptococcus (n = 16), Escherichia coli (n = 8) and Listeria monocytogenes (n = 3). Nine criteria were well correlated with maternal-fetal infection. The two most important criteria were maternal pyrexia above 39 degrees C and Apgar score below 7 to 5 min (poor neonatal adaptation), with a 99% and 90% and a positive predictive value of 80% and 37% respectively. Inversely, Two criteria were poorly correlated with maternal-fetal infection: labour duration above 12 hours and instrumental extraction (positive predictive value from 10% to 17%).(ABSTRACT TRUNCATED AT 250 WORDS)

Bacterial Infections↗
PubMed1992

[Neonatal hyperchloremia related to bromide poisoning].

Hyperchloremia may reveal bromism during the neonatal period. The authors report on two cases of neonatal bromism. The first case concerns triplets without clinical signs although the children and their mother displayed hyperchloremia. In the other case a 6 week old infant displayed neurological abnormalities associated with hyperchloremia and elevated plasma bromide levels.

Adult↗