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Biomedical subjects

M Broyer

Publications and source records attributed to M Broyer.

At least 73 records · Page 4Linked to original sources
PubMed1997

Distinctive clinicopathologic features associated with regressive primary CD30 positive cutaneous lymphomas: analysis of 6 cases.

A distinct group of cutaneous lymphomas has been described on the basis of CD30 antigen expression by at least 75% of the tumoral cells. When confined to the skin, these CD30 positive cutaneous lymphomas seem to be associated with a better prognosis than CD30 negative counterparts and spontaneous regression may even occur. We observed a spontaneously regressive evolution in 6 out of 9 CD30 positive primary cutaneous large cell-lymphomas diagnosed during a 5-year period. Clinicopathological data of regressive cases were analysed. The mean age of patients was 56.5 years. They were 3 males and 3 females. Skin lesions were solitary nodule or plaque measuring from 1.5 cm to 11 cm in diameter. Histologically, the lesions were classified as pleomorphic, medium and large cell (5 cases) or large cell anaplastic lymphoma (1 case) according to the updated Kiel classification. Delay for spontaneous regression varied from 1 to 6 months. Three of the 6 patients had cutaneous relapses, followed by a spontaneous regression. All patients remained disease-free with an overall median follow-up of 30 months. Histologically, some distinctive signs such as epidermal pseudo-epitheliomatous hyperplasia, epidermotropism, edema, dermal vascular hyperplasia, seemed to be more frequently associated with spontaneously regressive evolution.

Adult↗
PubMed1997

Varicella and zoster in children after kidney transplantation: long-term results of vaccination.

OBJECTIVE: To determine the long-term prevalence of varicella infection and herpes zoster after kidney transplantation and to assess the effectiveness of varicella immunization with the Oka attenuated strain. METHODS: This study involved 704 children and adolescents who received a kidney graft in our institution from 1973 to 1994 and had routinely been given varicella vaccine beginning in 1980 in preparation for transplantation. RESULTS: After vaccination 62% of these patients still had varicella/zoster (VZ) antibodies at 1 year and 42% after 10 years. After transplantation the incidence of varicella was significantly lower, 26/212 (12%), in patients who received immunization than in those who did not and had no history of varicella, 22/49 (45%). The disease was also significantly less severe in the vaccinated patients (three deaths among naive patients vs none among vacciness). In the vaccinees, varicella infection was observed only in those who did not develop or lost VZ antibodies; in addition, 21 patients of this subgroup had an asymptomatic seroconversion. Four of the 415 patients with a history of varicella had another episode of benign varicella after grafting. Herpes zoster was observed in 76 of the 704 patients included in the study. The prevalence differed according to VZ status at the time of grafting: 13% in patients with a history of varicella, 7% in the vacciness, and 38% in the naive patients at grafting who developed varicella. Three rejection episodes occurred in association with a varicella episode and four with a zoster episode, but graft function was only transiently impaired, and as a whole varicella or zoster did not significantly affect graft function or survival. CONCLUSION: Naive VZ patients with a kidney graft are at risk to develop severe varicella and this may be effectively prevented by available immunization.

Adrenal Cortex Hormones↗
PubMed1997

Cyclosporine in the therapy of steroid-resistant idiopathic nephrotic syndrome.

Steroid-resistant nephrotic syndrome with either minimal changes or focal and segmental glomerular sclerosis on initial biopsy is a severe condition as more than 50% of patients with the disease progress to end-stage renal failure within 10 years. We recently identified a distinct form of idiopathic nephrotic syndrome with an autosomal recessive mode of inheritance and were able to map the gene on the long arm of chromosome 1. The absence of recurrence of the disease after renal transplantation suggest a primary defect in a glomerular basement membrane protein. Several reports suggest that cyclosporine is effective in a proportion of patients with steroid-resistant idiopathic nephrotic syndrome, particularly when used in combination with corticosteroids. There are also data suggesting that high doses of cyclosporine may be necessary in patients with severe hypercholesterolemia. However, cyclosporine treatment should be carefully monitored in view of the high risk of nephrotoxicity, as shown by the results of repeat renal biopsies. The beneficial role of cyclosporine in recurrent steroid-resistant nephrotic syndrome is still debated. Preliminary observations suggest that the early use of intravenous cyclosporine may be effective in these patients.

Cyclosporine↗
PubMed1996

[Use of related live donors in renal transplantation].

Collecting pertinent information is first step in assessing the use of living-related kidneys for transplantation. Current bioethics legislation in France limits kidney donation to first-degree family members and spouses in emergency situations. Severe penalties are inflicted for use of other donors or sale of organs. Further valuable information can be obtained from reports in the literature on complications in donors and on the advantages of living donor organs. The proportion of live donors in France is small (3.5% from 1984 through 1993) indicating that transplantation teams prefer cadaver organs except in pediatric cases. The proportion of live donor organs transplanted in northern Europe and North America is much higher. A quick survey of French teams show that opinions and practices vary. Questions still under debate include how to guarantee freedom to refuse or accept, a freedom directly related to correct information. Several propositions have been made in an attempt to harmonize management. First, an information sheet could be distributed during the early discussions, outlining the advantages and disadvantages of live organ donation. A list of complementary examinations could also be established to identify possible contraindications for nephrectomy and define exclusion criteria. A similar procedure adopted by all transplantation teams could be based on these propositions presented in the appendix. Potential donors could then benefit from uniform protection.

Family↗
PubMed1996

Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population.

Congenital nephrotic syndrome of the Finnish type (CNF) is inherited as an autosomal recessive trait. The biochemical basis of the disease is unknown, although a lesion in the glomerular basement membrane is strongly suggested. Recently, the CNF locus was assigned to chromosome 19q12-q13.1 on the basis of linkage analysis in Finnish families. The high incidence of the disease in Finland, as well as the demonstration of linkage disequilibrium in the Finnish study, strongly suggests a founder effect based on a common ancient mutation in this population. We confirm linkage of the CNF locus to the same chromosomal region in seven non-Finnish CNF families without evidence of linkage disequilibrium. Our results show that the same gene seems to be affected in both Finnish and non-Finnish CNF populations. However, in the latter the mutation-carrying chromosomes descend from different ancestors without evidence of a founder effect.

Africa, Northern↗
PubMed1996

Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine.

Of the 26 cystinotic patients over 19 years of age followed in our institution, 7 developed CNS complications at a mean age of 23 years. Two forms were observed. The first, associating cerebellar and pyramidal signs, mental deterioration and finally pseudo-bulbar palsy, may be called cystinosis encephalopathy. The other form resembled a stroke-like episode with coma and hemiplegia or milder symptoms. Hydrocephalus was rare and not associated with clinical symptoms in this series. Cysteamine was administered for longer than 6 months to 4 of the patients with encephalopathy. Two had an almost complete disappearance of their symptoms including the gross abnormalities of MR imaging in one; one improved partially and remained stable, and one continued to deteriorate but was suspected of non-compliance. These results suggest that cysteamine may be an effective treatment of cystinosis encephalopathy and encourage prescription of this drug in cystinosis in order to prevent this complication.

Adolescent↗
PubMed1996

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.

Juvenile nephronophthisis (NPH) is a genetically heterogeneous disorder representing the most frequent inherited cause of chronic renal failure in children. We recently assigned a gene (NPH1) to the 2q13 region which is responsible for approximately 85% of cases. Cloning this region in a yeast artificial chromosome contig revealed the presence of low copy repeats. Large-scale rearrangements were detected in 80% of the patients belonging to inbred or multiplex NPH1 families and in 65% of the sporadic cases. Surprisingly, these rearrangements seem to be, in most cases, large homozygous deletions of approximately 250 kb involving an 100 kb inverted duplication. This suggests a common genetic disease-causing mechanism, which could be responsible for the highest frequency of large rearrangements reported in an autosomal recessive trait. Our findings are also of major clinical interest, as they permit the diagnosis in the majority of sporadic cases without the need for kidney biopsy.

Base Sequence↗
PubMed1996

Enterovirus in sudden unexpected deaths in infants.

BACKGROUND: Conventional approaches to virus detection failed to provide convincing evidence of a viral etiology in sudden unexplained deaths in infants (SUDI). Many viruses may not have been detected by the routinely used methods; among them enteroviruses (EV) have seldom been found in SUDI. METHODS: In this study EV were sought directly in stools, in pharyngeal and tracheal samples and in myocardial and lung tissues, by using a nested PCR; they were also sought indirectly by detecting IgM antibodies with a new capture immunoassay. Twenty-four SUDI cases were divided into two groups: Group I, certainly associated with; or Group II, not associated with clinical, biologic or histologic signs of viral infection. RESULTS: EV were found in stools but their prevalence was not significantly different between Group I and Group II (20 and 22.2%, respectively). On the contrary EV were detected in respiratory tract and/or lung samples in 53.8% of infants of Group I and in none of Group II. Anti-EV IgM antibodies were detected in 55.5% of infants of Group I and in none of Group II. CONCLUSIONS: These results indicate that EV infection may be specifically associated with the subgroup of SUDI with viral signs, raising the question of its role in this condition.

Base Sequence↗
PubMed1996

Results and side-effects of treating children with growth hormone after kidney transplantation--a preliminary report. Pharmacia & Upjohn Study Group.

The effect of growth hormone (GH) therapy on renal function was investigated in 203 children who had undergone kidney transplantation. In addition, the efficacy of GH in stimulating growth as well as other aspects of safety were assessed. The patients were randomized to receive either GH. 1 IU/kg/week, administered subcutaneously once daily, or no treatment during the first year (controls). During the second year, all patients received GH. The change in growth velocity and delta height SD score during the first year of GH treatment was statistically significant compared with controls (p < 0.0001). During the second year, those patients who received GH during the first year continued to show an increased rate of growth compared with that during the pretreatment period; however, the mean growth rate was lower than that in the first year of treatment. The mean change in glomerular filtration rate did not differ between the treated and control groups during the first year of the study. However, acute rejection episodes tended to be more frequent during GH treatment, particularly in those patients who had a history of more than one episode. Close monitoring of renal function is therefore recommended.

Body Height↗
PubMed1996

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.

Infantile nephropathic cystinosis is an autosomal recessive disorder characterized biochemically by an abnormally high intracellular content of free cystine in different organs and tissues due to a transport defect of cystine through the lysosomal membrane. Affected children present with the Fanconi syndrome and usually develop progressive renal failure within the 1st decade of life. Measurement of free cystine in purified polymorphonuclear leukocytes provides an accurate method for diagnosis and detection of heterozygous carriers. In order to localize the gene locus for cystinosis we performed linkage analysis in 18 cystinosis families. However, since 17 of these were simplex families, we decided to include the phenotypes of the heterozygous carriers previously determined by their leukocyte cystine content in the linkage analysis. This approach allowed us to obtain highly significant results, confirming the localization of the cystinosis gene locus recently mapped to the short arm of chromosome 17 by the Cystinosis Collaborative Research Group. Crucial recombination events allowed us to refine the interval of the cystinosis gene to a genetic distance of 1 cM. No evidence of genetic heterogeneity was found. Our results demonstrate that the use of the previously determined phenotypes of heterozygous carriers in linkage analysis provides a reliable method for the investigation of simplex families in autosomal recessive traits.

Chromosome Mapping↗
PubMed1996

Management of oxalosis.

Oxalosis is the final stage of primary hyperoxaluria type I (PHI) when reduction of GFR produces oxalate accumulation. It involves bones, arteries, eyes, heart, nerves, etc. The management of oxalosis starts with prevention of nephrocalcinosis and renal failure by diluting urine and by inhibiting oxalate crystal formation either by increasing the urinary citrate or the urinary pyrophosphate. At endstage renal disease (ESRD) there is no dialysis modality for avoiding the progression of oxalosis. Combined liver/kidney transplantation (LKT) represents the most effective approach. The European PHI transplant registry recently reported 64 LKT with a five-year patient survival of 80% and progressive healing of oxalosis. Four children who received LKT in our unit are reported, all of whom are alive with a follow-up of three months to five years. Bone disease completely healed in one case after three years, but retinal deposits persisted despite improvement of visual acuity. A special perioperative protocol must be applied for protecting the graft from oxalate released from the stores. Laboratory follow-up including oxalemia and urinary crystal volume helps to adjust the individual prescriptions. This intensive management must be continued as long as oxalate stores persist.

Combined Modality Therapy↗
PubMed1996

Long-term (15-25 years) outcome of childhood hemolytic-uremic syndrome.

The short-term prognosis of the "typical", "post-enteropathic" form of infantile HUS is usually good, with a complete recovery of renal function. However, the extent of the renal damage observed on some biopsies may raise concern for the long-term prognosis. Therefore, we studied the outcome of 29 patients affected with classical HUS in infancy or early childhood and followed-up for 15-28 years (m = 18 yrs). Initial renal symptoms ranged from a moderate renal failure with normal diuresis to a 12-day anuria: 21 children had to be treated by peritoneal dialysis. Twenty-five patients underwent a renal biopsy shortly after recovery: lesions of glomerular thrombotic microangiopathy (TMA) were found in 14 patients, and patchy cortical necrosis was diagnosed in the other 11. At latest examination 10 patients had no renal abnormality, 12 had residual renal symptoms (hypertension in 7, proteinuria in 4 and midly reduced GFR in 1), 3 were in chronic renal failure (CRF), and 4 had reached end-stage renal failure (ESRF) 16-24 years after onset; 2 of these latter 4 had a normal GFR at 10-year examination. The long-term evolution was not correlated with the initial clinical severity but appeared well correlated with the extent of the histological damage: 10 of the 11 patients with cortical necrosis have either ESRF (4), CRF (3) or renal sequelae (3), and 4 of the 5 patients with TMA involving more than 50% of glomeruli present with moderate sequelae, whereas the 9 patients with TMA involving less than 50% of glomeruli are symptom-free or have mild sequelae. Thus, the risk of renal failure 20 years after a seemingly cured childhood HUS is not negligible, and renal histology is the best indicator of long-term prognosis.

Age of Onset↗