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Biomedical subjects

G Defawe

Publications and source records attributed to G Defawe.

At least 19 recordsLinked to original sources

[Comparative study of results of pH-metry in function of its indication in infants].

A 24 hour pH-metry was performed in children younger than 3 months divided in 4 groups: group 1: 37 infants who presented an apparent life-threatening event (ALTE), group 2: 45 infants with an ALTE and chronic digestive symptoms (recurrent vomiting), group 3: 33 infants with digestive symptoms only, group 4: 32 sudden infant death syndrome (SIDS) siblings. The percent duration of oesophageal pH below 4 (% pH < 4) was measured during 24 hours and 12 nocturnal hours (8 PM-8 AM). In addition the mean duration of nocturnal episodes of reflux (MDNR) was calculated (duration of pH < 4 per 12 nocturnal hours/number of reflux episodes). No significant difference was found in the 4 groups for % pH < 4. Nocturnal reflux was present in all groups (40% in group 1, 55% in group 2, 49% in group 3 and 63% in group 4). The MDNR was higher in group 1 (12.3 +/- 7.8 min) vs group 2 (6.8 +/- 5.1 min) and group 3 (6.7 +/- 3.2 min) (P < 0.05). High MDNR did not appear to be related to an history of ALTE since the MDNR in group 2 was identical to group 3. Nocturnal pH metry profile failed to show a relationship between gastro-oesophageal reflux and ALTE.

Circadian Rhythm↗

[Torticollis in children: do not forget the Sandifer syndrome].

We report a case of Sandifer syndrome with chronic torticollis and gastroesophageal reflux (GER). The infant exhibited regurgitations and vomiting from birth. Torticollis with a permanent tilt of the head towards the right developed at age six months. At 16 months, persistence of the vomiting and abnormal attitude of the head and neck led to a CT scan that outruled a brain tumor. Esophageal pH recordings disclosed severe gastroesophageal reflux (pH less than 4 for 46% of the time over 24 hours) and endoscopy showed ulcerated peptic esophagitis. Surgical treatment of the GER ensured both resolution of the reflux and disappearance of the torticollis, establishing the causal relationship between the former and latter manifestations.

Female↗

[Truncus arteriosus: an autosomal recessive disease?].

Truncus arteriosus is an uncommon heart malformation; it is not reported that recurrence is high; nevertheless authors report three families with two or more cases; in the third there is a very high consanguinity (two uncle-niece marriages). The authors compare the situation with hypoplastic left heart and think that some cases of truncus arteriosus would have an autosomal recessive inheritance. That is an another argument for suggesting an echocardiographic survey of the pregnancies in these families.

Consanguinity↗

["Genetic emergencies" in a pediatric intensive care service].

Case histories from the pediatric reanimation department (intubated children of 0 to 15) and neonatology of Renne's hospital are reviewed for the years 1987 and 1988. Among 1.555 admissions (486 in reanimation, 1069 in neonatology), 63, that is 4%, concerned the clinical geneticist. The distribution may be done in 32 malformations and genetic syndromes, 8 chromosomal defects, 6 neuro-muscular diseases, 6 metabolic diseases, 3 cystic fibrosis, 3 spina bifida, 5 varied diseases. The advice of the genetic counsellor was requested 8 times for an urgent case, and to arrive at a decision about a reanimation, 7 times before the death of a patient for the management of diagnostic techniques: biopsy, blood or urines sent to a specialized center.

Emergency Service, Hospital↗

Percutaneous catheterization of the axillary vein in neonates.

Percutaneous catheterization of the axillary vein in low-birth weight neonates was performed successfully 217 times (226 attempts). In this report, the authors emphasize the facility of this method and its few complications compared to other methods of central venous catheterization.

Asepsis↗

[Prone position and unexpected sudden infant death].

The authors have discovered that in all the epidemiological surveys, 80 to 90% of SIDS happen when the infant is lying prone and at the age of 2 or 3 months when the infant is able to turn his head. Comparing the position of infants who died of SIDS with that generally pertaining to infants in the region, they found a good correlation between SIDS and the prone position. It seems that SIDS is a multifactorial syndrome in which asphyxia has been abandoned too readily in favour of other causes which have not been proven. They would like similar surveys to be carried out. Pending the results of these studies and taking into account the other disadvantages of the prone position, they recommend a return to laying the baby on his side in a traditional fashion.

Asphyxia↗

Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases.

An association between trisomy 11p15 and Beckwith-Wiedemann syndrome is described in two brothers. The first presented at birth with gigantism and macroglossia, umbilical hernia and abdominal distention, hypoglycemia and atresia of the pulmonary artery, leading to the diagnosis of Beckwith-Wiedemann syndrome. Facial dysmorphism also included: a hypoplastic midface, hypertelorism, and a short nose with a flattened bridge. The karyotype showed a trisomy 11p15 with a monosomy 18p11, due to a t(11;18)(p154;p111)pat. His brother, born a year later, showed the same signs. The association between trisomy 11p15 and Beckwith-Wiedemann syndrome is in certain cases well established.

Beckwith-Wiedemann Syndrome↗

[Toward a reduction of perinatal mortality].

Having studied perinatal mortality in Ille-et-Vilaine from 1972 onwards, the authors have come to realise how out of date the present method of working out perinatal mortality is because it only takes account of late intra-uterine death and early neonatal mortality of infants weighing at least 1 kilogram. The old method does not take notice of the changes that have occurred because of the progress that has taken place in obstetrics and neonatology such as the survival of an increasing number of newborn that weigh less than 1,000 grams or of the fact that the distinction between early and late neonatal death seems to be less and less valid. It does not add up to the total of "lost pregnancies". Furthermore, it does not make it possible to compare our figures with those published in foreign countries. The authors therefore feel that a new definition of perinatal mortality should be made, and this should satisfy the four following requirements: It should include on the one hand all fetuses and newborn that weigh at least 500 grams and on the other hand it should include early and late mortality and even mortality that occurs after the neonatal period. It should take into account the problem of false still-births. It should take into account fetal malformations and abnormalities that have called for therapeutic abortions because they are among the principal causes of perinatal mortality. It should study all the statistics and publications on this subject.

Abortion, Therapeutic↗

[The extemporaneous histological examination of the umbilical cord. A reliable procedure for evaluating the risk of neo-natal infection (author's transl)].

The authors report a study carried out on a consecutive series of 184 placentas of immature or small-for-dates newborn for whom a concomitant examination of the umbilical cord was carried out, with the purpose of finding out whether there was infection of the cord which was defined expressly as a true umbilical blood-vessel infection. The 27 cases of infection which were found were classified using a method with 5 values of 0 to 5 given to two sections of the cord that were sectioned. The one was near the placenta, the other near the fetus. Then the findings were compared with the clinical picture of infection in the infant and with bacteriological tests carried out on the digestive tract and on the meconium. This comparison shows how reliable this examination was in prognosing the risk of neo-natal infection and it would appear in screening out neo-natal infection by adding raised values for infection in the cord.

Bacterial Infections↗