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3.
Arch Pediatr ; 13(8): 1132-4, 2006 Aug.
Article in French | MEDLINE | ID: mdl-16797947

ABSTRACT

We report a rare case of mother-infant pair with Staphylococcal Toxic Shock Syndrome (TSS). A term neonate was born by caesarean section for maternal septic syndrome during per-partum. He presented with respiratory distress complicated by pulmonary hypertension, skin rash, and multiple organ system involvement. Staphylococcus aureus was isolated from placenta, surface swabs and gastric aspirate. He received adapted antibiotics, respiratory support by high frequency ventilation and NO. The mother had shock, skin rash and inflammatory syndrome. Outcome was good in both cases. The isolate produced enterotoxin C and L. Shock, exanthematous disease and multi-organ involvement complicating a staphylococcal infection in neonate must lead to suspect a TSS.


Subject(s)
Chorioamnionitis/diagnosis , Infectious Disease Transmission, Vertical , Pregnancy Complications, Infectious/diagnosis , Shock, Septic/transmission , Anti-Bacterial Agents/therapeutic use , Drug Therapy, Combination , Enterotoxins/isolation & purification , Female , Humans , Infant, Newborn , Male , Pregnancy , Pregnancy Complications, Infectious/drug therapy , Shock, Septic/diagnosis , Shock, Septic/drug therapy , Staphylococcus aureus/isolation & purification , Treatment Outcome
4.
Am J Hum Genet ; 69(5): 1134-40, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11567214

ABSTRACT

Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene have recently been reported in 12 patients affected by neuropathologically proved Alexander disease. We searched for GFAP mutations in a series of patients who had heterogeneous clinical symptoms but were candidates for Alexander disease on the basis of suggestive neuroimaging abnormalities. Missense, heterozygous, de novo GFAP mutations were found in exons 1 or 4 for 14 of the 15 patients analyzed, including patients without macrocephaly. Nine patients carried arginine mutations (four had R79H; four had R239C; and one had R239H) that have been described elsewhere, whereas the other five had one of four novel mutations, of which two affect arginine (2R88C and 1R88S) and two affect nonarginine residues (1L76F and 1N77Y). All mutations were located in the rod domain of GFAP, and there is a correlation between clinical severity and the affected amino acid. These results confirm that GFAP mutations are a reliable molecular marker for the diagnosis of infantile Alexander disease, and they also form a basis for the recommendation of GFAP analysis for prenatal diagnosis to detect potential cases of germinal mosaicism.


Subject(s)
Brain Diseases/genetics , Brain Diseases/physiopathology , Glial Fibrillary Acidic Protein/genetics , Mutation/genetics , Adolescent , Adult , Age of Onset , Base Sequence , Brain/abnormalities , Brain/metabolism , Brain Diseases/mortality , Brain Diseases/pathology , Child , Child, Preschool , Exons/genetics , Genotype , Glial Fibrillary Acidic Protein/chemistry , Humans , Infant , Infant, Newborn , Magnetic Resonance Imaging , Mosaicism/genetics , Phenotype , Protein Structure, Tertiary , Seizures/complications , Seizures/genetics , Seizures/pathology , Seizures/physiopathology
6.
Arch Pediatr ; 2(10): 1007-12, 1995 Oct.
Article in French | MEDLINE | ID: mdl-7496457

ABSTRACT

In many cases the traditional neurological examination of high risk newborns for neurological problems secondary to perinatal difficulties does not identify easily the absence or the presence of cerebral palsy before walking. To help the neuromoteur follow up in these children, the authors suggest a complementary neuromotor examination that is successful only in normal infants. This examination is done in front of a mirror in the presence of the parents in order to increase the attention of the child, whose participation is necessary for a successful examination. Two motor responses are evaluated: the lateral support on, alternately, right and left superior limbs, and the lateral abduction reaction of the hip of each limb. When normal these two motor responses allow an early affirmation of integrity of motor paths if the examination is performed under carefully controlled conditions.


Subject(s)
Cerebral Palsy/prevention & control , Neurologic Examination/methods , Humans , Infant , Motor Activity , Risk Factors
7.
Arch Pediatr ; 2(10): 941-7, 1995 Oct.
Article in French | MEDLINE | ID: mdl-7496471

ABSTRACT

BACKGROUND: Traditional neurological examination of newborns at risk for cerebral palsy (CP) is based on periodic assessment of normal milestones so that the diagnosis of CP can be very late. A complementary neuromotor evaluation based on two motor series has been proposed in order to make possible an early affirmation of integrity of motor paths. POPULATION AND METHODS: Eight hundred and seventy three infants including 371 preterms had been admitted to a neonatal intensive care unit from 1990 to 1992. Then, they were examined as outpatients by a multidisciplinary team. They were especially tested for lateral support on right and left superior limbs, alternately, and for lateral abduction reaction of each hip. RESULTS: Absence of manifestations of CP was noted in 87% of infants with a corrected age of 4 months; a correct prediction of future normal walking was made for all babies. Both tests could not be correctly performed by those babies who lately developed manifestations of CP. CONCLUSIONS: These two simple tests appear to be accurate to early predict normality.


Subject(s)
Cerebral Palsy/prevention & control , Follow-Up Studies , Humans , Infant , Infant, Newborn , Infant, Premature , Neurologic Examination/methods , Prognosis , Risk Factors
9.
Rev Prat ; 39(24): 2128-32, 1989 Oct 21.
Article in French | MEDLINE | ID: mdl-2683002

ABSTRACT

Neonatal anaemias are frequent. Their mechanism is the same before and after birth, consisting of haemorrhage, haemolysis or abnormal red cell production. These anaemias are serious and may be life-threatening or disabling due to hypovolaemia and tissue hypoxaemia in the foetus or newborn, and to the risk of a possible hyperbilirubinaemia after birth. Blood transfusion in neonates must comply with very strict rules owing to the immunological characteristics of that period of life.


Subject(s)
Anemia, Neonatal , Anemia, Neonatal/diagnosis , Anemia, Neonatal/etiology , Anemia, Neonatal/therapy , Female , Fetal Diseases/diagnosis , Fetal Diseases/therapy , Humans , Infant, Newborn , Pregnancy
10.
Eur J Pediatr ; 148(5): 470-2, 1989 Feb.
Article in English | MEDLINE | ID: mdl-2920756

ABSTRACT

We report a case of congenital neuropathy taking a rapidly fatal clinical course. Ultrastructural features of the peripheral nerve were unusual with sparsity of myelinated fibres, lack of "onion bulb" formation and presence of axonal damage. This case is compared with previously reported cases of early infantile neuropathy.


Subject(s)
Axons/ultrastructure , Muscle Hypotonia/pathology , Nerve Fibers, Myelinated/ultrastructure , Humans , Infant , Male
13.
Arch Fr Pediatr ; 39(8): 595-600, 1982 Oct.
Article in French | MEDLINE | ID: mdl-7159157

ABSTRACT

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. In such cases, major pulmonary hypoperfusion is associated with extrapulmonary right to left shunts, as shown by a PO2 gradient between a pulmonary vein and the aorta. Later on, q values improve progressively. The importance of the reduction of the perfusion of the ventilated alveolar areas and its hemodynamic consequences suggest that in severe cases with hyaline membrane disease a pulmonary vasodilatator treatment could be prescribed, before the stage of refractory hypoxemia.


Subject(s)
Hyaline Membrane Disease/physiopathology , Pulmonary Alveoli/physiopathology , Ventilation-Perfusion Ratio , Female , Humans , Infant, Newborn , Male , Time Factors
14.
Arch Fr Pediatr ; 39(7): 423-8, 1982.
Article in French | MEDLINE | ID: mdl-7149888

ABSTRACT

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. Recovery may be possible in children with the "miniature" type.


Subject(s)
Asphyxia Neonatorum/etiology , Bronchopulmonary Dysplasia/diagnosis , Lung/pathology , Abnormalities, Multiple/physiopathology , Bronchopulmonary Dysplasia/complications , Bronchopulmonary Dysplasia/physiopathology , Humans , Infant, Newborn , Prognosis
15.
Arch Fr Pediatr ; 39(2): 101-4, 1982 Feb.
Article in French | MEDLINE | ID: mdl-7073429

ABSTRACT

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.


Subject(s)
Cardiomyopathies/etiology , Hypoxia/complications , Infant, Newborn, Diseases/etiology , Myocardial Infarction/etiology , Tricuspid Valve Insufficiency/etiology , Humans , Infant, Newborn
16.
Arch Fr Pediatr ; 38 Suppl 1: 867-73, 1981 Dec.
Article in French | MEDLINE | ID: mdl-7036932

ABSTRACT

A double blind controlled study of the therapeutic effect of clofibrate, an inductor of bilirubin glucuronyl transferase, was performed in neonates born at term and presenting with physiologic jaundice. 47 children were treated with a single oral dose of clofibrate. 46 control children were given corn oil alone. Results show that mean plasma bilirubin levels are significantly lower in the treated group as compared with the control group, from the 16th hour of treatment, if there is no ABO incompatibility. Clofibrate treatment also resulted in a shorter duration of jaundice and a restricted use of phototherapy. No undesirable side-effect was observed.


Subject(s)
Clofibrate/therapeutic use , Jaundice, Neonatal/drug therapy , ABO Blood-Group System , Blood Group Incompatibility , Clinical Trials as Topic , Clofibrate/administration & dosage , Double-Blind Method , Female , Humans , Infant, Newborn , Male
17.
Arch Fr Pediatr ; 38(2): 101-7, 1981 Feb.
Article in French | MEDLINE | ID: mdl-7235826

ABSTRACT

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. They were used to distinguish intra-pulmonary shunts from extra-pulmonary shunts (though foramen ovale and/or ductus arteriosus). Simultaneous measurements of PACO2 and PaCO2 were used to assess the percentage of the ventilation output reaching hypoperfused areas. In cases with extra-pulmonary shunt, when this percentage is over 30%, pulmonary hypertension is likely. The use of both methods is useful for selecting those patients who might benefit from tolazoline.


Subject(s)
Hypoxia/physiopathology , Infant, Newborn, Diseases/physiopathology , Pulmonary Circulation , Blood Gas Analysis , Catheterization , Female , Humans , Hypoxia/drug therapy , Infant , Infant, Newborn , Male , Partial Pressure , Tolazoline/therapeutic use
18.
Arch Fr Pediatr ; 37(6): 377-80, 1980 Jun.
Article in French | MEDLINE | ID: mdl-7425787

ABSTRACT

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. In the majority of newborns all organs should be mature after 37 weeks gestation but, development may be delayed. Thus the lungs in the full term infants may occasionally have an immature surfactant system.


Subject(s)
Hyaline Membrane Disease/diagnosis , Female , Gestational Age , Humans , Infant, Newborn , Male , Pregnancy , Respiratory Distress Syndrome, Newborn/etiology , Retrospective Studies
19.
Arch Fr Pediatr ; 37(5): 317-9, 1980 May.
Article in French | MEDLINE | ID: mdl-7469707

ABSTRACT

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.


Subject(s)
Cyanosis/chemically induced , Diseases in Twins , Indomethacin/adverse effects , Infant, Newborn, Diseases/chemically induced , Adult , Female , Humans , Infant, Newborn , Pregnancy
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