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).

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.

[Latex allergy in 16 children].

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.

[Epidemiologic study of the cystic fibrosis gene in the Champagne-Ardenne region].

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.

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.

[Contributions of the measurement of TSH, T4 and thyroglobulin, of 99m Tc scintigraphy and of cervical ultrasonography to the early diagnosis of congenital hypothyroidism].

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.

[Cerebellar ataxia preceding cutaneous symptoms in chickenpox].

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].

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.

[Familial esophageal leiomyomatosis associated with Alport's syndrome in a 9-year-old boy].

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.

[Localized form of xanthogranulomatous pyelonephritis in a child. Case report].

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.

[Supero-inferior ventricles and hearts with crossed circulation. Apropos of 2 cases. Review of the literature].

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.

[Biliary lithiasis in cystic fibrosis. Study of the bile salts in the serum and in the bile in one case (author's transl)].

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.

[Echocardiographic aspects of the atrio-ventricular canal].

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.