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J Amiel

Publications and source records attributed to J Amiel.

139 records · Page 8Linked to original sources
PubMed1979

[Malignant tumour of the testis abdominal cryptorchism revealed by torsion of the spermatic cord and diagnosed by arteriography (author's transl)].

The authors present a case of torsion of an intra-abdominal choriocarcinoma of the testis, in which the pre-operative diagnosis was made by aortic arteriography. The association of the two remains rare, as a review of literature proved. The orchidopexy if it does not tend to prevent the possibility of malignant change gives an easier follow-up and an earlier diagnosis.

Adolescent↗
PubMedDate not supplied

Prenatal diagnosis of sporadic Apert syndrome: a sequential diagnostic approach combining three-dimensional computed tomography and molecular biology.

Apert syndrome is characterized by coronal craniosynostosis, midfacial hypoplasia, symmetrical syndactyly of the hands and feet described as 'mitten-like' with varying degrees of mental retardation. It results from a mutation of the fibroblast growth factor-2 (FGFR2) gene. In the absence of a family history, prenatal diagnosis may be difficult based on sonography alone. We report a case in which the prenatal diagnosis of Apert syndrome was suspected by ultrasonography, established by three-dimensional computed tomography scan (3DTS) and confirmed by the detection of a mutation on amniotic cells. This underscores the usefulness of a sequential diagnostic approach combining 3DTS and molecular biology in cases in which sonography alone is not con- clusive.

Acrocephalosyndactylia↗
PubMedDate not supplied

[Endoscopic internal urethrotomy. Retrospective studies of 132 cases].

The authors report a series of 132 patients with urethral stricture all treated by the same surgical technique between 1979 and 1984: direct vision internal urethrotomy. 62% of good results were obtained after a single operation with a follow-up ranging between 18 months and 5 years. There was no mortality and the morbidity was considered to be 5%. The authors indicate that the results were more favourable when the operation was performed in a solitary, short (less than 2 cm) non-infected stricture of the proximal urethra. The duration of postoperative catheterization was 10 days; catheterization for a longer period did not provide any significant advantage. The poor results (38%) were reported in cases of extensive strictures situated in the distal urethra or in patients with a history of urethral surgery. These cases were treated by repeated internal urethrotomy; 32% were cured after a second urethrotomy, while the others required maintenance sessions of urethral dilatation or even a urethroplasty procedure.

Adolescent↗
PubMedDate not supplied

Hydronephrosis after aortofemoral bypass graft. A prospective study.

This prospective study was designed to determine the frequency and natural history of hydroureteronephrosis (HUN) after placement of an aortobifemoral vascular graft. A total of 30 patients were evaluated by the study protocol, which included: pre and postoperative biological kidney function tests, preoperative and early postoperative (14th day) intravenous pyelograms and a late (mean 18th month) urologic examination by renal ultrasonic tomography. Four asymptomatic, early cases of HUN were observed in the 57 ureters examined (7%); all four complications regressed in less than 30 days. No cases of symptomatic early or late HUN were observed in this series. Asymptomatic early HUN was a frequent complication in our series (7%) but its benign course does not justify systematic screening. These asymptomatic complications contrast with the symptomatic cases of early or late HUN reported in the literature which necessitated urologic and vascular investigations.

Aged↗
PubMedDate not supplied

[CAMDEX: a new psychogeriatric interview].

"The Cambridge Mental Disorders of the Elderly" (CAMDEX) is a new structured interview developed for diagnostic of dementia and other psychogeriatric disorders frequent in the old age. The CAMDEX is composed of three main sections: 1) A clinical interview structured to obtain from the patient a systematized information about his present condition, his antecedents and his familiar history. 2) A short neuropsychological battery formed by several cognitive tests. 3) A structured interview to obtain independent information about relative or another informing person about the present state of the patient, his antecedents and his familiar history. The good results obtained by the original version of CAMDEX, as in clinical works as in epidemiological ones, have determined their translation and fitting in our environment. The present work shows the changes that have been necessary to insert in the original version in order that this interview may be used in our geriatric population.

Aged↗
PubMedDate not supplied

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Four susceptibility genes have recently been identified in HSCR, namely the RET proto-oncogene, the glial cell line-derived neurotrophic factor (GDNF), the endothelin B receptor (EDNRB) and the endothelin-3 genes (EDN3). Homozygosity for EDN3 mutations has been previously shown to cause the Shah-Waardenburg syndrome, a combination of HSCR with features of the Waardenburg syndrome. Here, we report on heterozygous EDN3 missense mutations in isolatec HSCR. The present data give further support to the role of the endothelin signaling pathway in the development of neural crest-derived enteric neurons. They also suggest the possibility that either recessive or weakly penetrant dominant alleles could occur at the EDN3 locus, depending on the nature of the mutation.

Endothelin-3↗