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W Schnedl

Publications and source records attributed to W Schnedl.

78 records · Page 5Linked to original sources
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Microdissection and reverse painting reveals a microdeletion 6(q26qter) in a de novo r(6) chromosome.

Ring chromosomes 6 are rare constitutional abnormalities with inconsistent phenotypic and clinical features. One of the reasons for this variability is the cytogenetically undetectable loss of chromosomal material from the telomeric segments at 6p or 6q. We have therefore used fluorescence in situ hybridization (FISH) to analyse a ring chromosome 6 that was detected in a newborn boy with dysmorphic features. Reverse painting of the microdissected ring chromosome onto normal metaphase spreads revealed a small deletion of the terminal region of the long arm, 6(q26qter). Moreover, the simple all-telomeric sequence (TTAGG)n was lost, whereas the p-specific subtelomeric sequence was still present. Our findings confirm that microdeletions occur during the formation of r(6) chromosomes and, therefore, are an important determinator of the associated phenotype.

Adult↗
PubMedDate not supplied

Complications and surgical interventions during 4 years of biliary extracorporeal shockwave lithotripsy.

BACKGROUND/AIMS: Extracorporeal shockwave lithotripsy (ESWL) of renal concrements, a revolutionary therapeutic concept, was introduced into clinical routine in the early 1980s. In this study, complications and surgical interventions of biliary extracorporeal shockwave lithotripsy were investigated. MATERIAL AND METHODS: Two hundred-eighty patients with gallbladder stones underwent extracorporeal shockwave lithotripsy during a 4 year (January 1990-December 1993) investigation period. Two hundred four patients were female, and 76 patients were male with a mean age of 48 years. All patients were symptomatic. Selection was carried out following the "Munich criteria" and the selection rate was 15.3% of all referred patients (n = 1831). One hundred eighty-eight patients had solitary stones, 92 patients presented with multiple stones (maximum 3 stones), with an average of 1.7 stones and a mean stone volume of 2.4 cm3 and stone diameter of 16.5 mm. Shockwave lithotripsy was performed with a second generation electrohydraulic lithotriptor with a mean of 2.1 sessions. Mean duration of one session was 50 min, 1331 discharges were applied on average with a mean power of 22.7 kV. RESULTS: Analgesia, with Alfetanil (mean 2.3 mg), was necessary in 68% of all treatment sessions. Fragmentation could be achieved in 81% of the cases, stone clearance was observed in 172 cases (66.4%) out of 258 patients after 12 months. Twenty-two patients were treated in 1993 and are still under observance. Side effects such as colic after treatment were observed in 88 cases (31.4%). In seven cases, severe complications such as impaction of fragments in the papilla of Vater followed by serochemical pancreatitis were seen. An urgent endoscopic sphincterotomy was necessary in these 7 cases (2.5%). Within 4 weeks after shockwave treatment in 4 cases 1.4% emergency cholecystenomy had to be performed. Elective cholecystectomy was done in 16 patients (5.7%). There were no deaths observed during the investigation period. CONCLUSION: Based on the results of our series, we do not recommend biliary ESWL in patients with stone volumes exceeding 14 cm3 (3cm), the high fragment volume after sufficient fragmentation by shockwaves indicates long term oral dissolution therapy. The probability of complications will be increased by the presence of larger fragments.

Adult↗