[Ventricular repolarisation disorders and long QT syndrome: clinical and genetic study in 10 paediatric cases]. / Troubles de la repolarisation ventriculaire et syndrome du QT long: étude clinique et génétique à propos de 10 cas pédiatriques.

We report 10 paediatric cases of ventricular repolarisation disorders and long QT syndrome, which differed in their mode of revelation, from asymptomatic forms to syncope events or heart arrest. Diagnosis is based on electrophysiological explorations and exhaustive genetic investigation. It allows a well-codified preventive and therapeutic action according to the genotype.

[Factor XIII deficiency in a newborn]. / Déficit en facteur XIII chez un nouveau-né.

Factor XIII deficiency is an uncommon inherited disorder which is characterized by umbilical cord bleeding and an unusually high incidence of intracranial hemorrhage. We report here a case of Factor XIII deficiency in a child that presented a caput. succedaneum as the first manifestation of the disease and then an umbilical cord bleeding. The importance of performing a quantitative FXIII assay in the presence of strong clinical suspicion is strengthened because of the normality of the standard screening tests and the important therapeutic consequences.

[Botulism in a neonate]. / Toxi-infection botulique chez un nouveau-né.

Botulism was suspected in a 17-day-old breastfed infant who developed over 2 days progressive muscular weakness and hypoventilation. The patient also presented with pupil dilation and light unresponsiveness. The electroencephalogram was normal. Full recovery was obtained after 85 days of artificial ventilation. Diagnosis was confirmed by the presence of the botulin toxin B in the patient serum. The source of the infection was not identified.

Effect of intermittent positive pressure ventilation on diastolic ventricular filling patterns in premature infants.

Eleven preterm newborn infants had a Doppler echocardiographic examination of their ventricular filling patterns during intermittent positive pressure ventilation. Peak velocity during early ventricular filling (VE) and during atrial systole (VA) and diastolic velocity-time integral of early (IE) and late (IA) ventricular filling caused by atrial contraction were measured. The ratios of VE/VA and IE/IA were also calculated. Diastolic peak velocities, as well as the diastolic velocity-time integral of early and late ventricular filling measured through the mitral valve were significantly higher during inspiration. The peak of the wave representing the velocity during atrial systole (A) was always higher than the peak of the wave representing the velocity of early ventricular filling (E). As a result, the ratio of these two variables (E/A) was always less than 1, showing no significant variation from inspiration to expiration. The flow patterns into the right ventricle were the opposite of those observed through the mitral valve. During inspiration, a significant decrease (p less than 0.001) in peak and time integral velocities of both the early ventricular filling and atrial systole waves was observed. Heart rate did not vary with respiration. It is concluded that during positive pressure ventilation, inspiration decreases right ventricular filling and enhances left ventricular filling. Opposite changes are recorded during expiration. Early and late phases of diastolic filling are equally affected. These changes are different from those observed during spontaneous breathing and should be taken into account in the assessment of diastolic ventricular function in preterm infants requiring assisted ventilation.

Nosocomial colonization of premature babies with Klebsiella oxytoca: probable role of enteral feeding procedure in transmission and control of the outbreak with the use of gloves.

OBJECTIVE: To investigate the persistence of colonization of premature babies by Klebsiella oxytoca, with special emphasis on the mode of transmission of the bacterium and evaluation of Standard Precautions to stop the epidemic. DESIGN: Retrospective analysis of cases and prospective study of systematic bacteriological samples (stools and throat) from babies, healthcare workers (HCWs), and environment, with genotyping of strains by arbitrarily primed polymerase chain reaction. SETTING: A premature baby unit (PBU) and a neonatal intensive care unit in the university hospital of Saint-Etienne, France. RESULTS: An outbreak of K oxytoca was suspected in two pediatric wards after the occurrence of a fatal bacteremia in a newborn hospitalized in the PBU and the colonization of other babies 2 months later. Retrospective analysis showed that 24 babies' digestive tract had been colonized. No environmental reservoir was recovered in the units nor in enteral feeding. No K oxytoca was isolated from HCW samples. Genotyping confirmed the presence of epidemic strains, although independent clones were responsible for infections or colonizations in each of the two units. The chronology and the site of babies' colonization (isolation of K oxytoca in stools before throat) were determined during a prospective study and suggested that enteral feeding procedures could be the source of contamination. Therefore, use of gloves during this practice by HCWs was recommended and, after readjustment of Standard Precautions, stopped the outbreak. CONCLUSION: To prevent cross-contamination among high-risk babies, careful attention must be paid to Standard Precautions. Bacteriological surveillance of the digestive tract of neonates could help to check compliance with these guidelines

Assessment of fetal pulmonic stenosis by ultrasonography.

This study was designed to determine (1) the value of Doppler echocardiography in depicting the presence of a fetal pulmonary stenosis, (2) its reliability in the assessment of the severity of the lesion, and (3) the usefulness of additional markers from the left side of the heart as criteria of severity. Fourteen pregnant ewes were included in this study (gestational age, 90 to 120 days). Banding of the fetal main pulmonary artery created mild (n = 3), moderate (n = 3), and severe (n = 5) stenosis. Three lambs were sham operated. Intrauterine fetal Doppler echocardiographic data obtained 15 days after surgery were compared with preoperative values. Peak velocities recorded through the band increased linearly from baseline in the groups with mild and moderate stenosis but did not show any further increase in the group with severe stenosis. Compared with the sham-operated group, right ventricular output in the group with stenosis was either similar or reduced significantly. The increase in right ventricular free wall thickness was significantly greater in the groups with stenosis compared with that of the sham-operated group; the correlation with the degree of severity was r = 0.65 and p < 0.05. A A stronger positive correlation was found between the severity of stenosis and aortic valve diameters: r = 0.82 and p < 0.01. The strongest correlation was found for right ventricular/left ventricular outputs (r = 0.92; p < 0.001). Thus Doppler peak velocities through the obstruction can help detect pulmonic stenosis but are not reliable for the assessment of its severity during fetal life. Other ultrasound measurements such as the size of the aortic anulus and especially the ratio of right ventricular/left ventricular output could be used as sensitive markers of the severity of stenosis.

The procedures of hygiene to control hospital-acquired diarrhoea in paediatric wards: a multicentre audit.

An audit was carried out in paediatric wards to study the compliance of healthcare workers (HCWs) to the procedures recommended for the control of hospital-acquired diarrhoea. Thirty-two paediatric wards in the southeast of France participated on a voluntary basis in this prospective observational study after completing a self-administered questionnaire recording measures of hygiene. All the observations were made by the same investigator and focused on preventive procedures: use of single room, handwashing, hand disinfection, overclothing, single-use gloves and masks. Two hundred and seventy patient-HCW contacts were observed, including mainly diapering, temperature measurement, collection of blood sample and catheter care. The isolation of patients in a single room and use of gowns by HCWs were significantly associated with diarrhoea. Whereas handwashing before care was performed by HCWs in more than 95% of all the procedures, the compliance in the use of disposable gloves by HCWs was only of 39.4% for technical procedures (including those with potential exposure to blood) and 20.3% for diapering or temperature measurement. A substantial agreement between reported and observed measures of hygiene was observed for handwashing before contact and hand disinfection with antimicrobial soap before contact. In contrast, this agreement was moderate for use of single room, handwashing after contact, overclothing and wearing disposable gloves after a diaper change. Despite the excellent compliance of HCWs to handwashing, clearer recommendations for the indication and use of disinfectants and disposable gloves are urgently needed.

Circulatory changes induced by isovolumic increase in red cell mass in fetal lambs.

AIM: To verify whether extra uterine changes in total peripheral vascular resistance and cardiac output, caused by raised haematocrit, occur in fetal life and if they can be documented using conventional ultrasound techniques. METHODS: An exchange transfusion with packed red cells was performed on five fetal lambs at 140 days of gestation (weight 3.44, SD 0.48 kg); three others were used as controls. The haematocrit was raised from 44 +/- 3 to 64 (SD2)%. RESULTS: Body temperature, blood gas, and pH remained within normal limits. Blood viscosity increased from 5.3 (0.3) to 9.6 (1.6) cps. Combined cardiac output fell to 30% of its initial value. The pulsatility index (PI) remained unchanged in the umbilical artery (0.66, SD 0.1) and descending aorta (1.3, SD 0.3). A significant positive correlation was found between haematocrit and PI only in the carotid artery (r = 0.67, p < 0.01). CONCLUSION: In the fetus, as in adults, an increase in blood viscosity is associated with a fall in cardiac output. However, the low resistance and the relative inertia of the placental vascular bed blunt the velocimetric changes that could be induced in the lower body vascular system by an increase in resistance. Such changes were observed only in the carotid artery. These results could be of interest in the Doppler monitoring of human fetuses at risk of an abnormal increase in their haematocrit.

Shoshin beriberi: an unusual complication of prolonged parenteral nutrition.

After 4 weeks of total parenteral nutrition (TPN), a 12-yr-old girl exhibited an acute heart failure with high cardiac output, anuria, and severe lactic acidosis. The clinical, hemodynamic, and biological data suggested the diagnosis of shoshin beriberi which was proved by the low erythrocyte transketolase activity with elevated "TPP effect" and by the dramatic improvement of the patient after thiamin administration. Thiamin deficiency and severe neurological disorders have been described during long-term parenteral nutrition. To our knowledge, this is the first report of the cardiovascular complication of this vitamin deprivation in long-term TPN.

[Enterovirus infections in children under three months of age]. / Les infections à entérovirus du nourrisson de moins de trois mois.

Enterovirus infections in childhood (echoviruses, coxsackie viruses A and B, unclassified enteroviruses) are varied, nonspecific and benign (except for poliovirus infections). However, in infants, they may lead to severe neurological or cardiac lesions. In neonates, enterovirus infections are difficult to distinguish from late-onset bacterial infection. Maternal-fetal or postnatal transmission can induce early spontaneous abortions or severe neonatal infections. Diagnosis is usually based on viral cultures and, in recent years, on PCR techniques. At the present time, no potential effective drug is available: intravenous immunoglobulins, immunization or anti-proteases may be of interest.

[Heterozygous protein C deficiency: apropos of 2 cases with cerebral venous thrombosis in the neonatal period]. / Déficit hétérozygote en protéine C: à propos de deux cas avec thromboses veineuses cérébrales en période néonatale.

UNLABELLED: Thrombotic accidents in the newborn, particularly cerebrovascular accidents, are reported in case of abnormalities in the coagulation system and rarely in heterozygous protein C deficiency; a low protein C level could be either physiological or acquired. CASE REPORT: Two cases of heterozygous protein C deficiency are reported in neonates. Severe neurologic distress was associated with bloody cerebrospinal fluid, and hemorrhagic lesions due to cerebral sinovenous occlusion were visualised by cerebral imaging. The course was severe. One case was associated with renal thrombosis. Mutation in the 168 proline/leucine was detected by molecular biology in the neonates and their mothers. In one case a treatment with protein C had no beneficial effect. CONCLUSION: Cerebral sinus venous thrombosis has to be sought by magnetic resonance imaging in the case of neurologic distress with profound cerebral hemorrhage in the newborn. A low level of protein C has to be interpreted with caution. The diagnosis of a heterozygous deficiency status can only be made through molecular biology. The effect of treatment with protein C concentrate is questionable.

[Intestinal volvulus in extremely premature infants]. / Volvulus du grêle et grande prématurité.

UNLABELLED: Volvulus with or without malrotation are infrequent in the extremely premature newborn. CASE REPORTS: Intestinal volvulus in seven premature newborns are reported with abdominal distention, bright and tense skin without visible bowel loops and spiraled bowel loops on the abdominal X-ray. Intestinal resection was avoided due to early diagnosis. We identified abdominal wall massages as a risk factor, because no new cases have occurred since interdiction of these practices. CONCLUSIONS: Symptoms and radiologic findings are relatively specific for excluding the diagnosis of necrotizing enterocolitis in premature newborns. Abdominal nursing could be the incriminating factor.

[Zinc deficiency in mucoviscidosis]. / Carence en zinc au cours de la mucoviscidose.

UNLABELLED: Zinc deficiencies can induce dermatitis in subjects presenting cystic fibrosis. CASE REPORT: A patient, Clement, presented with a digestive form of cystic fibrosis. At four months of age, he presented a dermatitis similar to acrodermatitis enteropathica. Early clinical diagnosis and treatment led to a rapid response to zinc sulfate therapy. DISCUSSION: Less intestinal absorption, malnutrition, and diet are just some of the numerous reasons for the zinc deficiency in this case. Biological support is not necessary to begin the treatment.

[Varicella complicated with necrotizing fasciitis caused by group A hemolytic Streptococcus]. / Varicelle compliquée d'une fasciite nécrosante à streptocoque hémolytique du groupe A.

UNLABELLED: Chickenpox has a high risk of invasive group A streptococcal disease and necroziting fasciitis. CASE REPORT: A five-year-old girl, during chickenpox treated with ibuprofen, developed sepsis and edematous and necrotic lesions of the pelvis and the abdominal wall. The child improved with surgical treatment and adjunction of clindamycin to the antibiotic therapy. CONCLUSION: We review the optimal medical and surgical treatment of necrotizing fasciitis and discuss the role of chickenpox and non steroidal antiinflammatory agents in this disease.

[Anticardiolipin antibodies, cerebral ischemia and adrenal hemorrhage in a newborn infant]. / Anticorps anticardiolipine, ischémie cérébrale et hémorragie surrénalienne chez un nouveau-né.

BACKGROUND: Anticardiolipin antibodies, usually associated with vascular thrombosis in systemic lupus erythematosus, have been recently found associated with strokes in childhood, and acute adrenal hemorrhage in the adult. CASE REPORT: A 3 day-old fullterm newborn suffering from cerebrovascular ischemia and bilateral massive hemorrhage was found to have anticardiolipin antibodies detected during the neonatal period and 7 months later. There was no evidence of pathology in the mother or perinatal asphyxia. However, anticardiolipin antibodies were present in the mother 5 and 15 weeks after delivery. CONCLUSION: Association of anticardiolipin antibodies and vascular thrombosis has never been reported in the neonate. Persistence of such antibodies favor the hypothesis that they are not transmitted by the mother; they could represent an early manifestation of primary antiphospholipid syndrome.

[Neonatal screening of congenital hypothyroidism with TSH measurement in dried blood spots on filter paper. A two years experience (author's transl)]. / Dépistage néonatal de l'hypothyroïdie congenitale par le dosage de la TSH sur tache de sang séché. Expérience de 2 ans dans la région Rhône-Alpes.

Systematic screening for congenital hypothyroidism was started in Lyon in september 1976. This screening was coupled with PKU, using the same dried blood samples on filter paper obtained on the 5th day of life. TSH levels were determined by radioimmunoassay adapted for dried blood samples (Kit Abbott). In 24 months, 56 176 samples were analyzed. The critical level calling for control was successively raised from from 20 to 30, now 40 microUI/ml of serum. A high level of TSH was found in 307 children (0,55%). Pathological deliveries were found in most of these infants (neonatal injury, cesarean, section forceps or ocytocic perfusion, neonatal icterus) and a second or a third measurement showed normal TSH level. Congenital hypothyroidism, was found detected in 18 infants: 12 ectopic gland, 5 athyreosis and 1 dyshormonogenesis. Treatment was begun at a mean age of 38 days (29 to 50 days).

[The relationship between palmitic acid and stearic acid on the pharyngeal secretions of the newborn (author's transl)]. / Le rapport acide palmitique sur acide stéarique dans les sécrétions pharyngées du nouveau-né.

The authors report on their study of the ratio of palmitic acid to stearic acid (P/S) in the pharyngeal secretions of the newborn before the sixth hour of life. Four groups of infants were studied: 78 infants used as controls who hac no respiratory distress, 36 with hyaline membrane disease, 16 with transitory respiratory distress and 5 with perinatal asphyxia. The aetiological diagnosis of the respiratory distress was based on clinical as well as radiological and biological criteria. The P/S ratio is always less than 3 with hyaline membrane disease and above 3 in asphyxias. In the control group and the group with transitory respiratory distress the ratio ranged between 1.3 and 14 which was evidence of false negative results, probably attributable to treatment with cortisone given to the mother in premature labour in a certain number of cases. Study of the P/S ratio in amniotic fluid and in the pharyngeal secretions of 27 children born by Caesarean operation embodies a contradiction in the results the newborns in whom the ratio in the amniotic fluid was greater than 3 never had respiratory distress although the ratio studied at the same time in the pharyngeal secretions was low and sometimes less than 3.

[Neonatal screening for congenital hypothyroidism by measuring TSH in dried blood samples. Two years experience in the method (author's transl)]. / Dépistage néonatal de l'hypothyroïdie congénitale par le dosage de la TSH sur tache de sang séché.

Systematic screening for congenital hypothyroidism was started in Lyon in September 1976. This screening was coupled with PKU screening, using the same dried blood samples in filter paper obtained on the 5 th day of life. TSH levels were determined by radioimmunoassay adapted for dried blood samples (Kit Abbott). In 24 months, 56 176 samples were analyzed. The critical level calling for control was successively raised from 20 to 30 now 40 muUl/ml of serum. A high level of TSH was found in 307 children (0.55 p. 100). Pathological deliveries were found in most of these infants (neonatal injury, cesarean section, forceps or ocytocic perfusion, neonatal icterus) and a second or a third measurement showed normal TSH level. Congenital hypothyroidism, was detected in 18 infants: 12 ectopic gland, 5 athyreosis and 1 dyshormonogenesis. Treatment was begun at a mean age of 38 days (29 to 50 days). Despite a short follow-up the psychomotor development of the infants seems to be normal in all cases but one (one athyreosis with a neonatal injury and a malformative syndrome).

[Thrombocytopenia due to materno-fetal allo-immunization. Report of a familial case]. / Thrombocytopénie par allo-immunisation materno-foetale. A propos d'une observation familiale.

The diagnosis of fetomaternal alloimmune thrombocytopenia (FMAT) was made in a newborn with thrombocytopenia and intracranial hemorrhage. The first child of the family was severely affected with neurodevelopmental sequelae secondary to intracranial hemorrhage. According to the maternal HPA phenotype, close to 100% of subsequent pregnancies could be expected to be affected as the homozygous state was observed in both platelet systems. Another infant was born after a poorly followed pregnancy and was affected as was his elder brother. Prednisolone was given during another pregnancy. A thrombocytic newborn without intracranial hemorrhage was delivered by prudent cesarian section. The infant received platelet transfusion (maternal platelets). We present case histories of FMAT, and stress the conditions for prenatal diagnosis and management.