Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature.

We report on a case of dup(16p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16p13.1 p13.

[Acute osteomyelitis in a child with homozygous sickle cell anemia. Difficulty in early diagnosis].

Febrile painful edema of a limb segment in Black children should suggest a bone complication (infarct or osteomyelitis) of a homozygous sickle cell anemia. The possibility of an early diagnosis can be improved by scintigraphy since the appearance of radiologic signs is delayed in relation to functional symptomatology onset. The risk of an infectious graft, particularly from Salmonella in children under 2 years, on a bone infarct makes it essential to combine routine antibiotic therapy with the orthopedic treatment, to provide resolution of the very often quite impressive lesions.

[Perinatal symptomatology of severe neuromuscular diseases. Apropos of 11 cases].

The neonatal diagnosis of neuro-muscular diseases is difficult. From a series of 11 neonates presenting with such diseases, ante and postnatal semiology has been studied. During pregnancy, hydramnios (7/11) and decreased active movements were the most frequent symptoms.

[Antenatal diagnosis of 2 cases of cytomegalic inclusion disease].

On the occasion of 2 case reports, the authors emphasize the present possibility of evoking cytomegalovirus infection during pregnancy from virologic and serologic data. Such data may lead to change the evolution of such pathologic pregnancies.

[A study of the perfusion of the ventilated alveolar areas in hyaline membrane disease].

Thirty-three neonates presenting with hyaline membrane disease were investigated with simultaneous measurements of PACO2 and PaCO2, in order to establish the percentage (q) of the ventilated alveolar areas with little or no perfusion. Results show that during the acute phase of the disease, mean values for q are 40%. Highest figures are related with the most severe distress.

[Bilateral pulmonary hypoplasia in neonates: a clinical and pathological review apropos of 17 cases].

17 neonates presenting with bilateral hypoplasia of the lungs are reported. Histologic examination of the 13 neonates who died before the 24th hour of life showed 2 histologic types: a "fetal" type, similar to the pulmonary histology of 16-20 weeks fetuses, and a "miniature" type, with reduced dimensions, of harmonious aspect. The association of pulmonary hypoplasia with other fetal malformations suggests a different pathophysiologic mechanism for each type.

[Heart disorders following perinatal anoxia (author's transl)].

Various types of ischemic myocardial dysfunction can be observed after perinatal anoxia. Seven such cases are reported: 2 patients with cardiogenic shock due to left ventricle myocardial infarction; 2 patients with transient tricuspid insufficiency; 3 patients with transient myocardial ischemia in the course of a severe respiratory illness.

[Simultaneous assessment of intra-pulmonary right-to-left shunting and of aADCO2 in 5 neonates with refractory hypoxemia (author's transl)].

Five neonates with refractory hypoxemia (aortic PO2 less than or equal to 6.7 KPa despite FiO2 = 1 and efficient artificial ventilation) were investigated in order to determine the principal mechanism of hypoxemia. PO2 values were measured (under FiO2 = 1) in a pulmonary vein, the left auricle and the aorta.

[The diagnostic value of the EEG in peri- and intraventricular haemorrhage in the newborn (author's transl)].

EEGs were performed in 39 newborns with intraventricular haemorrhage (IVH) who subsequently died and compared with a series of 37 neonates who did not have an IVH. Abnormalities were more common in the IVHgroup. The most significant findings were the presence of electrical storms and that it was not possible to assess the gestational age.

[Hyaline membrane disease in full-term neonates (author's transl)].

Eleven full term neonates with respiratory distress syndrome resembling hyaline membrane disease (HMD) are reported. Gestational ages awere assessed from the history and by clinical and EEG criteria. The diagnosis of HMD was made when clinical and radiological signs, usually present in premature infants, were found together with an abnormal lecithin/sphingomyelin ratio in the tracheal aspirate during the first 60 hours.

[Twin pregnancy, indomethacin and neonatal cyanosis (author's transl)].

Two twins born to a mother who had been treated with Indomethacin at the end of pregnancy presented with variable but transitory hypoxemia. Blood Indomethacin determination suggested that this disorder was iatrogenic in origin. Clinical, experimental and pharmacological data in the literature support the hypothesis that this condition was due to pulmonary arterial hypertension.

[Pulmonary and bone maturation. Study of 36 neonates (author's transl)].

Pulmonary surfactant deficiency was diagnosed in 36 newborn infants by measuring low L/S ratios in sequential tracheal aspirated samples. A distal femoral epiphysis was seen in knee X-rays in 25 of these 36 infants. It is concluded that fetal pulmonary maturity cannot be judged in utero by the presence of ossific centres at the knee, although there is a statistical correlation between gestational age and maturity of the bones.

[Umbilical artery catheterization by cut-down study in 34 newborn infants].

In some newborns with vital distress, conventional umbilical artery catheterization cannot be performed: in our series, this occurred in 34 out of 248 attempts. In 28 of these 34 infants, catheterization succeeded when hypogastric cut-down of an artery was carried out. Two of the 6 failures were due to a minor complication at the time of the cut-down, while two others occurred in infants presenting a single umbilical artery.

[Laboratory diagnosis of hyaline membrane disease and amniotic fluid inhalation. A study of 100 neonates with respiratory distress].

The aim of this study of 100 newborns with respiratory distress in the first 24 hours was to evaluate the diagnostic reliability of sequential L/S ratio testing of the fluid retrieved through tracheal suctioning in identifying hyaline membrane disease and that of calculating the urinary meconial index (UMI) for the first mictions in identifying amniotic fluid aspiration. The L/S ratio was found to be low (< 2) during the first 3 days in 90% of the cases of hyaline membrane disease; this good correlation shows that the technique employed here can reliably be used to diagnose clinically and radiologically atypical forms of this disease (12%). The UMI was found to be abnormally elevated (> 1) in all the cases of severe meconial aspiration.