[Echocardiographic aspects of the atrio-ventricular canal]. / Aspects échocardiographiques du canal atrio-ventriculaire

The authors report their experience of echocardiography in cases of atrio-ventricular canal in the light of 9 cases which were studied by time-movement and 2-dimensional echography. In cases if ostium primum, the essential findings are: diastolic juxtaposition of the mitral valve to the left side of the septum, its multiple-echo appearance during systole, and the abnormal movement of the ventricular septum. In cases of complete atrio-ventricular canal, two main types are found. In the first, the echos of the atrio-ventricular valve are confused with those of the interventricular septum during diastole; in diastole, the septum disappears, one valve moves anteriorly into the right ventricle, and the other moves posteriorly into the left ventricle. In the second type, the appearances are those of a single valve which is situated within the left ventricle during systole, and which 'crosses' the interventricular septum to gain the right ventricle during diastole. The interpretation of these findings is difficult. It becomes clearer, however, when it is realised that the plane of incidence of the ultrasonic waves is not perpendicular to the plane of movement of the atrio-ventricular valve. The authors' conculsion is that echocardiography is a method of diagnosings atrio-ventricular canal defects, bud does not allow the anatomical type to be defined.

[Supero-inferior ventricles and hearts with crossed circulation. Apropos of 2 cases. Review of the literature]. / Ventricules superposés et coeurs à circulations croisées. A propos de deux observations. Revue de la littérature.

Two cases of supero-inferior heart are reported. Segmental analysis of the first case showed: situs solitus, atrioventricular (left sided loop) and ventriculoarterial discordance, resulting in a corrected transposition with the aorta in L malposition. The second malformation arose on a situs inversus, atrioventricular concordance (left sided loop) and double outlet right ventricle. The right ventricle was on the right and above the left ventricle giving an appearance of paradoxal discordance. The atrioventricular connections determined a plane of cleavage between right and left circulations in the supero-inferior ventricles and an appearance of crossed circulations in the second case. Hypoplasia of the inflow tract, of the right ventricular sinus is almost constant in this type of spatial orientation of the ventricles. The embryological hypoplasias are suggestive of an abnormality in the rotation of the cardiac tube in a frontal plane for the superimposed ventricles and abnormal rotation secondary to ventricular septation in the hearts with crossed circulations. The different classifications proposed in the literature are discussed with respect to these cases.

[Epidemiologic study of the cystic fibrosis gene in the Champagne-Ardenne region]. / Etude épidémiologique du gène de la mucoviscidose dans la région Champagne-Ardenne.

Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder among Caucasians and is caused by abnormalities in the cystic fibrosis transmembrane conductance regulator gene (CFTR). CFTR gene encodes a chloride channel that regulates secretion in many exocrine tissues especially pancreatic and pulmonary tissues. The clinical presentation of cystic fibrosis is highly variable with isolated CAVD (congenital absence of vas deferens) and/or typical pancreatic and pulmonary manifestations. Over 500 mutations in the CFTR gene have been described and vary among different geographic locations. The severity of clinical manifestations and specially the pulmonary disease is poorly correlated with genotype. It is interesting to collect clinical and genetical data by analysing a larger cohort of CF patients. These results are likely to improve our understanding of the physiopathology of CF and the genetic counselling; particular biochemical defect could lead to more specific treatments in the future. From our 110 patients selected in Champagne-Ardenne country, we analysed the entire coding sequence of CFTR gene and detected 95% of CF mutations and in fact, 89.5% if we include the CAVD patients; 59.4% of CF mutations were detected for these patients. Three new mutations have been here reported. We found numerous CF mutations with a large distribution throughout the gene. Nevertheless, three exons are mainly involved: 10, 11 and 21. Relationships between the genotype and phenotype are difficult to assess.

[Latex allergy in 16 children]. / Allergie au latex chez 16 enfants.

BACKGROUND: Latex allergy is now well-known in adults and children. It represents the first cause of anaphylactic operating shock in pediatrics. POPULATION: A diagnosis of latex allergy was made in 16 children (five girls and 11 boys), aged 2 to 15 years, because of evoking signs and symptoms, from simple urticaria to Quincke edema in presence of latex. The revealing factor was wheezing in balloons in 13 out of the 16 patients. An atopic past history was frequent. Previous eventually sensitizing surgical operations were present in five patients; associated food allergy existed in four. Skin tests were positive in nine out of 12 patients, as well as latex specific IgE (13 out of 16). The diagnosis was made with a labial provocation test in one patient. CONCLUSION: Latex allergy can be severe and requires that patients avoid any contact with rubber objects, especially gloves. A detailed medical certificate should be given to the family in view of any medical, surgical or dental intervention.

[Contributions of the measurement of TSH, T4 and thyroglobulin, of 99m Tc scintigraphy and of cervical ultrasonography to the early diagnosis of congenital hypothyroidism]. / Contribution des dosages de TSH, de T4 et de thyroglobuline, de la scintigraphie au 99m Tc et de l'échographie cervicale au diagnostic précoce de l'hypothyroïdie congénitale.

Over 10 years, extending from 1978, 200,000 newborns of the Champagne-Ardennes Region have been tested within the screening program for congenital hypothyroidism. Congenital hypothyroidism was diagnosed in 96 infants (28 boys, 68 girls): 73 thyroid dysgenesis (50 ectopic glands and 23 undetectable thyroid tissue) and 23 thyroid dyshormonogenesis (14 permanent and 9 transient defects). Our local frequency was 1/2,600, significantly higher than the French and European frequencies. There was a marked shortening of the age at diagnosis during the 10 year period (mean age: 45 days between 1978 and 1980, 18 days in 1987). The TSH measurement was found to be the most sensitive tool for the diagnosis. Scintigraphy and more recently ultrasonography were performed in order to characterize the anatomical variety. For the last year, the following protocol was used: high frequency ultrasonography at first, then 123I or 99 m Tc scintigraphy (using parallel colimator and digital acquisition) depending on whether the thyroid gland was seen on ultrasound or not. Treatment of thyroid dyshormonogenesis was withdrawn after 5 years for reassessment.

[Localized form of xanthogranulomatous pyelonephritis in a child. Case report]. / Forme localisée de la pyélonéphrite xanthogranulomateuse chez l'enfant. A propos d'un cas.

The authors report the case of a 4 1/2-year-old boy with a localized xanthogranulomatous pyelonephritis. Review of the literature shows that this rare condition is often misdiagnosed before surgery, a preoperative diagnosis of Wilms' tumor being proposed instead of the exact one which is of benign prognosis. The pathogenesis is unknown.

[Cerebellar ataxia preceding cutaneous symptoms in chickenpox]. / Ataxie cérébelleuse précédant les signes cutanés au cours d'une varicelle.

The authors describe a case of cerebellar ataxia developing 8 days before the exanthema of varicella. Evolution was quickly favorable. On the occasion of this rare observation, the pathophysiology of the neurological complications of varicella are discussed.

[Congenital nephrotic syndrome associated with congenital toxoplasmosis]. / Syndrome néphrotique congénital associé à une toxoplasmose congénitale.

The authors report the case of a 1 month-old infant presenting with congenital toxoplasmosis associated with nephrotic syndrome and microscopic hematuria. Percutaneous renal biopsy showed a diffuse mild increase in mesangial cells and matrix, but immunofluorescence was negative. Electron microscopy revealed the presence of extensive fusion of foot processes. A review of the nephropathy of congenital toxoplasmosis is presented. Outcome seems to be favorable under steroid therapy. The pathophysiology of nephropathy is discussed, as well as the relationships or coincidence between congenital toxoplasmosis and nephrotic syndrome.

Changes in serum lipoprotein(a) levels in children with corticosensitive nephrotic syndrome.

Variations in lipoprotein(a) [Lp(a)] levels were evaluated during the course of the nephrotic syndrome in 20 children (17 males, 3 females, aged 2-16 years), to evaluate the use of this parameter in the prognosis and monitoring of the disease. One patient was in relapse, 12 in remission, and 7 alternated between remission and relapse. Results were compared with those obtained in a control population of 100 age-matched children. Lp(a) was measured by a previously described immunonephelometric technique. Serum Lp(a) levels were increased in children with relapsing nephrotic syndrome compared with controls (median value of 419 mg/l vs. 86 mg/l). The median Lp(a) level in patients with nephrotic syndrome in remission was different from controls (270 mg/l under steroid therapy and 163 mg/l without steroid therapy), but remained within the reference range. Of the patients in relapse, 66% had Lp(a) levels above the generally accepted limit for cardiovascular risk of 300 mg/l, compared with 16% of controls, 44% of patients with nephrotic syndrome in remission under steroid therapy, and 18% of patients with nephrotic syndrome in remission without steroid therapy. In 2 patients, Lp(a) was measured repeatedly and was significantly higher during the acute phase of the disease (up to sixfold basal level). Changes in Lp(a) levels correlated with cholesterol levels, but the kinetics and the extent of variations were different. These data suggest that measurement of Lp(a) is useful for monitoring the nephrotic syndrome in children, particularly for detecting complications.

[Biliary lithiasis in cystic fibrosis. Study of the bile salts in the serum and in the bile in one case (author's transl)]. / Lithiase biliaire au cours de la mucoviscidose. Etude des sels biliaires dans le sérum et la bile chez une malade.

Biliary lithiasis was discovered in a girl aged 11 suffering from Cystic Fibrosis and who underwent partial small bowel resection for meconium ileus. A cholecystectomy was performed at 15. Examination of the stones showed that they were composed of cholesterol and chemical examination of the bile showed an increase of phospholipids and a decrease in bile salts. There was also a modification of the ratio (Formula: see text) in the serum and the bile. All those factors contribute to the insolubility of cholesterol and to the formation of lithiasis. For all those reasons, the authors recommend a regular radiologic surveillance of the gallbladder in Cystic Fibrosis.

[Familial esophageal leiomyomatosis associated with Alport's syndrome in a 9-year-old boy]. / Léiomyomatose oesophagienne familiale associée à un syndrome d'Alport chez un garçon de 9 ans.

The authors describe a family in which the mother and one son are affected by oesophageal leiomyomatosis and nephritis with haematuria. The mother also presents hypertrophy of vulva and clitoris, and her son has perceptive deafness and congenital cataract. In the medical literature only 15 cases of oesophageal leiomyomatosis in children and adolescents could be found. The association with Alport's syndrome was first described by Torres and Guarner in 1983.

Revisited physicochemical and transport properties of respiratory mucus in genotyped cystic fibrosis patients.

We investigated the physicochemical and transport properties of sputum samples collected in physiotherapy from a well-documented group of 27 cystic fibrosis (CF) patients with identified CF genotypes. Sputum samples were characterized ex vivo for their water content, surface properties (surface tension and contact angle), rheologic properties (viscosity and elastic modulus), and transport properties (mucociliary and cough transport). These data were analyzed in relation to the clinical status of the patients (FEV1, FVC, Shwachman score, Brasfield score, nutritional status), their genotype, and the degree of infection of their sputa (leukocyte and Pseudomonas aeruginosa counts). We observed negative and significant correlations between mucociliary transport and elastic modulus of the patients' sputum (r = -0.63, p < 0.01), and between the cough transport and contact angle of the sputum (r = -0.81, p < 0.0001), respectively. The P. aeruginosa count was also significantly correlated with the sputum water content (r = -0.53, p < 0.02) as well as with the cough transport of the sputum (r = -0.62, p < 0.01). In CF patients with a sputum leukocyte count > 2,000/mm3, the sputum water content (p < 0.02), FEV1 (p < 0.05) and FVC (p < 0.02) were significantly lower than those of CF patients with a leukocyte count < or = 2,000/mm3. CF patients with a homozygous delta F 508 genotype had significantly greater values of sputum water content (p < 0.05), and cough-transport capacity (p < 0.05) than did heterozygous patients. No correlation was observed between the sputum properties and any of the clinical data. These results suggest that the control of infection should be emphasized in CF, since it can directly or indirectly modulate the degree of hydration, and therefore the physicochemical and transport properties, of airway secretions.

Dose-dependent in vitro effect of recombinant human DNase on rheological and transport properties of cystic fibrosis respiratory mucus.

Recombinant human deoxyribonuclease (rhDNase) has been demonstrated to reduce the viscosity of purulent cystic fibrosis (CF) respiratory mucus, to improve pulmonary function and to reduce the risk of respiratory tract infectious exacerbations, but its effect on mucus transportability has not so far been investigated. The dose-dependent effect of rhDNase was analysed in vitro on mucus transport rate (tr) by ciliary activity and by simulated cough (cough transport (ct)), as well as on mucus viscosity and surface properties. Purulent CF sputa (n = 15) were incubated for 30 min at 37 degrees C with either rhDNase at three different concentrations (final concentrations 0.2, 2 or 20 micrograms.ml-1 of mucus) or placebo. No significant dose-dependent effect of rhDNase on the mucociliary transport rate was observed when the samples wer statistically analysed together. However, in the larger group of mucus samples (n = 11) with a low initial mucociliary transport rate, the latter was improved at each rhDNase concentration (tr0.2 = 0.69, tr2 = 0.88 and tr20 = 0.87) as compared to placebo (trp = 0.58). In the smaller group of mucus samples (n = 4) with high initial transport rate, a decrease in mucociliary transport rate was observed, particularly at the highest concentration rhDNase assayed, i.e. 20 micrograms.ml-1 of mucus (tr20 = 0.58) as compared to placebo (trp = 0.86). The mucus cough transport was increased by rhDNase (ct0.2 = 25 mm, ct2 = 27.5 mm and ct20 = 31 mm) as compared to placebo (ctp = 23.5 mm).(ABSTRACT TRUNCATED AT 250 WORDS)