Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Three subtypes have been described: TRPS I, caused by mutations in the TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS III, a form with severe brachydactyly, due to short metacarpals, and severe short stature, but without exostoses. To investigate whether TRPS III is caused by TRPS1 mutations and to establish a genotype-phenotype correlation in TRPS, we performed extensive mutation analysis and evaluated the height and degree of brachydactyly in patients with TRPS I or TRPS III. We found 35 different mutations in 44 of 51 unrelated patients. The detection rate (86%) indicates that TRPS1 is the major locus for TRPS I and TRPS III. We did not find any mutation in the parents of sporadic patients or in apparently healthy relatives of familial patients, indicating complete penetrance of TRPS1 mutations. Evaluation of skeletal abnormalities of patients with TRPS1 mutations revealed a wide clinical spectrum. The phenotype was variable in unrelated, age- and sex-matched patients with identical mutations, as well as in families. Four of the five missense mutations alter the GATA DNA-binding zinc finger, and six of the seven unrelated patients with these mutations may be classified as having TRPS III. Our data indicate that TRPS III is at the severe end of the TRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene.

Temperature-controlled high frequency ablation for creation of transmyocardial channels: in vivo validation of a novel method.

OBJECTIVE: We investigated the feasibility and short-term effects of a novel procedure to create intramyocardial channels by means of high frequency (HF) ablation in a rabbit in vivo model. METHODS: A flexible catheter ending in a cylindrical electrode (diameter 0.7 mm) with a sharpened tip was used for HF energy application following transmyocardial insertion. Power-controlled or energy-controlled energy applications were performed in 16 anesthetized rabbits after thoracotomy with a follow-up for 3 h. Assessment of myocardial channels and the necrotic zone was performed by morphometric quantification in serial sections. The ferret diameter was used to compare channel dimensions and the extent of necrosis. RESULTS: Thirty-nine power-controlled and 54 temperature-controlled HF applications were performed. The shape of identified channels was round in 71% and 69% had a lumen patency of > or =2/3 of the channel. Ferret diameter of the channels was 414 +/- 180 microm and of the necrotic zone 3,558 +/- 1,200 microm. In temperature-controlled applications, channel dimensions were strongly influenced by the maximum tissue temperature and the duration of energy delivery (T(max): p = 0.0006; duration: p = 0. 003). Channel and necrosis dimensions correlated better with biometric parameters in temperature-controlled compared with power-controlled applications. CONCLUSION: Mechanically created transmyocardial channels can be stabilized by HF heating of the surrounding tissue. A high percentage of these channels remain patent. The channel dimensions are closely correlated with maximum temperature and duration of energy delivery in a temperature-controlled application mode.

[Effect of the diagnosis and prevention of exercise-induced bronchial obstruction on sports participation by asthmatic school children]. / Der Einfluss von Diagnose und Prophylaxe der anstrengungsinduzierten Bronchialobstruktion auf die sportlich Aktivität asthmatischer Schulkinder.

To assess the sport activities and the previous management of asthmatic children with an exercise-induced bronchial obstruction (EIB), we studied 124 children, aged 8-17 years, with a history of EIB, which was confirmed in a free-running exercise test. Participation in school sports was regular in 38% of the children, irregular in 45% and absent in 17%. Participation in sports outside the school was even lower: In 26% regularly, 18% irregularly and absent in 56%. 17% of all children were not active in any sport. EIB had previously been diagnosed in 38 (31%) children, and 20 (16%) of these had received an appropriate prophylactic medication. Children who received prophylaxis participated significantly more often in school sports (p less than 0.01) and in other sports (p less than 0.05), compared with those who had been diagnosed but had not received prophylaxis. After exercise, peak expiratory flow decreased by a mean of 41% of the preexercise values, but following a prophylactic administration of 0.2 mg Salbutamol-aerosol it decreased only by 2%. A complete protection of EIB was achieved in 94% of the children and the mean %-protection was 95%. The protective effect of 2 mg DNCG-aerosol in 21 children was significantly lower (53%, p less than 0.05) than that of salbutamol and a complete protection was achieved in only 71% (p less than 0.025) of the children.

[The pure visceral form of Niemann-Pick disease in children. Review of the literature apropos of a case]. / La forme viscérale pure de la maladie de Niemann-Pick chez l'enfant. Revue de la littérature à propos d'un cas.

The fortuitous discovery of a pulmonary miliary pattern in a asymptomatic child led the authors to the diagnosis of Niemann-Pick disease.