RESUMO
Five cases of Roberts syndrome (RS) in four nuclear families are reported and the wide range of phenotypic variation among them is described. This is in contrast with the remarkable uniformity of the cytogenetic findings. Indirect immunofluorescence with seric antibodies from patients with CREST, revealed that the centromeric structures are normal in RS thus confirming J. German's assumption that the chromatid repulsion is confined to the heterochromatin. The authors quantified the phenomenon of centromeric heterochromatin separation (as occasionally revealed by C-bands in normal subjects) in obligate heterozygotes and possible heterozygotes for RS. The results are indicative of the possibility to screen for heterozygotes. The nosology of RS and related syndromes is discussed in view of the cytogenetic findings and the natural history of the disease.
Assuntos
Anormalidades Múltiplas/genética , Triagem de Portadores Genéticos , Variação Genética/genética , Feminino , Humanos , Cariotipagem , Masculino , Linhagem , Fenótipo , SíndromeRESUMO
Between december 1983 and april 1989, percutaneous retrograde sclerotherapy of varicocele was successfully performed on 364 patients. A 5% solution of sodium morrhuate and benzylic alcohol (Varicocid) was administered through a coaxial balloon catheter inserted into the spermatic vein. 10 of the patients had relapses after surgery. Long-term follow-up was available for 268 patients (73.6%). Three of them had incomplete relapses after sclerotherapy. In terms of spermatologic improvement, sclerotherapy appeared to be effective in the treatment of varicoceles. In our experience, sclerotherapy is a safe effective procedure to be preferred to surgery in the management of varicocele.
Assuntos
Álcoois Benzílicos/uso terapêutico , Escleroterapia/métodos , Morruato de Sódio/uso terapêutico , Varicocele/terapia , Adolescente , Adulto , Criança , Pré-Escolar , Seguimentos , Humanos , Injeções Intravenosas , Masculino , Pessoa de Meia-Idade , Flebografia , Recidiva , Contagem de Espermatozoides , Motilidade dos Espermatozoides , Varicocele/diagnósticoRESUMO
Since December 1983, percutaneous transvenous retrograde sclerotherapy of the internal spermatic vein was performed successfully, without complications in 37 patients. The administration of the sclerosing agent through a coaxially balloon catheter specifically inserted into the spermatic vein caused therapeutic hardening. The effectiveness of the treatment was endorsed by subsequent checks by clinical and radiological examinations.
