Les auteurs mettent en évidence l'importance et l'urgence d'un diagnostic précis de toute anomalie de la sphère génitale. Cette prise en charge passe par la collaboration de nombreux spécialistes au sein d'une équipe pluridisciplinaire.

Denys-Drash and Frasier syndromes are rare human disorders that associate nephropathy with gonadal and genital abnormalities. In DDS there is a predisposition to Wilms' tumor. Heterozygous point mutations in the Wilms' tumor, type1 gene (WT1), particularly those altering the zinc finger (ZF) encoding exons, have been reported in most DDS patients, while mutations in intron 9 of the same gene cause FS. This paper describes two cases of DDS, one FS and one patient with Wilm's tumor and intersex genitalia, in which mutations were searched by sequencing the exons 8 and 9 of WT1 gene. Patient 1 carried a missense point mutation in exon 8 (ZF2), converting a CGA-Arg codon to a TGA-stop codon. Patient 2 presented a single nucleotide deletion within exon 9 (ZF3) introducing a premature chain termination at codon 398. Patients 3 and 4 had a C-->T transition at position +4 of the second alternative splice donor site of exon 9 (this mutation was detected in peripheral blood and in tumor derived DNA of patient 3). However, patient 3 had previously developed a Wilms' tumor. This is the first case of Wilms' tumor development in a phenotypically and genetically confirmed case of FS.

The purposes of this program were to determine whether participants gained more comprehensive knowledge about depression and if that knowledge was applied in practice following attendance at a 3-day educational workshop. Twelve programs were conducted in three southwestern states. The majority of the 363 participants were Anglo-White female registered nurses whose ages ranged from 23 to 74 years and who worked in general medical-surgical units, nursing homes, or community health settings. This study was a repeated-measures design to evaluate the effects of depression education on depression knowledge and its clinical application. Participants demonstrated increased depression knowledge and practice application following the program. Knowledge of depression remained stable across postprogram measures. Although application of interventions decreased between 6 weeks and 6 months, assessment skills remained stable. Mental health nurses can improve patient outcomes through programs such as the one described by educating nurses in the detection and management of depression.

Journal Article Detection of growth hormone gene deletions by PCR of the hGH-N gene in isolated growth hormone deficiency Get access Rosalia Ruiz-Pacheco, Rosalia Ruiz-Pacheco 1Institute Natonal de la Santé et de la Recherche MedicaleUnité 58, 34090 Montpellier Search for other works by this author on: Oxford Academic PubMed Google Scholar Gérard Cuny, Gérard Cuny + 2Unité de Biochimie Endocrinienne du Oéveloppement et de la Reproduction, CHRU Lapeyronie34059 Montpellier *To whom correspondence should be addressed at: Service de Pédiatrie 1, Endocrinologie Gynécologie Pédiatriques Hôpital Arnaud de Villeneuve, 34059 Montpellier Cedex, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Serglo Bernasconl, Serglo Bernasconl 3Institut Natonal de la Santé de la Recherche Médicale, Unité 249, et Centre National de la Recherche ScientifiqueLP8402, 34000 Montpellier, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Robert Dumas, Robert Dumas 4Department of Podiatrics, University of Parma43100 Parma, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Gérard Rolzes, Gérard Rolzes 2Unité de Biochimie Endocrinienne du Oéveloppement et de la Reproduction, CHRU Lapeyronie34059 Montpellier Search for other works by this author on: Oxford Academic PubMed Google Scholar Charies Sultan Charies Sultan * 1Institute Natonal de la Santé et de la Recherche MedicaleUnité 58, 34090 Montpellier4Department of Podiatrics, University of Parma43100 Parma, Italy *To whom correspondence should be addressed at: Service de Pédiatrie 1, Endocrinologie Gynécologie Pédiatriques Hôpital Arnaud de Villeneuve, 34059 Montpellier Cedex, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 2, Issue 10, October 1993, Pages 1723–1725, https://doi.org/10.1093/hmg/2.10.1723 Published: 01 October 1993 Article history Received: 17 May 1993 Revision received: 10 August 1993 Accepted: 10 August 1993 Published: 01 October 1993

The effect of 8 months of administration of moderate doses of 25-hydroxycholecalciferol (25 OH D3) on radiologic, biologic, and bone histologic changes was assessed in five children on chronic hemodialysis. Osteomalacia, defined by an increase in the thickness index of the osteoid seams and decrease of the calcification rate, was present on the initial bone biopsy of only one patient and improved with the treatment. Secondary hyperparathyroidism and its prints on bone tissue, noted in all five children, did not improve in the absence of adequate serum phosphorus control. Furthermore, cancellous bone volume diminished in two patients with the administration of 25 OH D3. This activity of the drug could be related to its inhibitory effect of osteoblastic apposition as demonstrated by the decrease in the calcification rates, while the thickness index of the osteoid seams remains normal. Despite the small number of patients studied, these results suggest the importance of limiting the prescription of 25 OH D3 to children suffering from renal osteodystrophy only after having assessed unequivocally an osteomalacic component by histodynamical criteria. Secondary hyperparathyroidism appears not to be improved with moderate doses of 25 OH D3 in the absence of adequate serum phosphorus control.

Two children who presented with Wilm's tumour and severe hypertension are described. The hypertension, which was secondary to excessive renin secretion, regressed after unilateral nephrectomy. In one child the total quantity of renin in the tumour was high and the peripheral plasma renin was also increased. The latter was unaffected by posture or a low salt diet and on angiography there was no compression of the renal arteries. Electron microscopy of the tumour cells showed numerous intra-cytoplasmic granules. In the other child the peripheral renin was only moderated elevated and could be stimulated by changes in posture or a low salt diet. Angiography demonstrated a large tumour that was compressing the renal artery on that side. No renin was detected in the tumour. In this child the inappropriate secretion of renin was probably due to renal parenchyma close to the tumour causing reno-vascular hypertension. The anti-hypertensive effect of propranolol given pre-operatively was excellent.