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R Bouvier

Publications and source records attributed to R Bouvier.

At least 55 records · Page 3Linked to original sources
PubMed2000

[Pseudotumoral subacute osteomyelitis: a series of 41 children].

PURPOSE OF THE STUDY: To confirm that subacute osteomyelitis in children is a real entity, and give the main characteristics of this disease MATERIAL AND METHODS: We reviewed 41 cases as well as the litterature. RESULTS: Pain without fever was the only constant symptom. The erythrocyte sedimentation rate was increased slightly. XRays were the most important investigation, showing a geode in the metaphysis or more rarely in the epiphysis evoking a benign bone tumor in a child. DISCUSSION: The treatment was most often surgical: scraping permits the isolation of the microbe in 50 per cent of cases (staphylococcus most often) and usualy leady to recovery. CONCLUSION: This form of osteomyelitis is relatively frequent and must be discussed in front of a cystic tumoral image of the child's long bone.

Adolescent↗
PubMed2000

Bilateral cystic pleuropulmonary blastoma in early infancy.

We report 2 cases of multifocal cystic (type 1) pleuropulmonary blastoma, diagnosed during the first 6 months of life. This rare entity must be recognized before evolution into the prognostically unfavorable type 2 or type 3 pleuropulmonary blastoma.

Female↗
PubMed2000

[Prevention of renal carcinoma: the nutri-genetic approach].

The development of renal cell carcinoma (RCC) has been associated with both genetic and environmental factors, with somatic and germline mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and with tobacco smoking, obesity, long term exposure to some nutrients, pollutants, and industrial solvents such as trichloroethylene. Intra and interfamilial variability of expression of germline mutations in the VHL gene and variable susceptibility to carcinogens in the sporadic forms strongly suggest the involvement of conditional modifier genes. In order to identify sub groups of individuals at increased risk because of susceptibility genotypes, we have collected a series of 460 patients who developed an RCC and 79 families with the von Hippel Lindau disease. To collect clinical and mutational data for correlation analysis we have developed a unique tool the Universal Mutation Database. Comparison of the spectrum of germline and somatic mutations in the VHL gene showed that: 1) in sporadic RCC mutations lead more often to truncated proteins (83%), while the remaining mutations (17%), include 3/4 of transversions and 1/4 of transitions. This high proportion of transversions supports the involvement of carcinogens the impact of which is conditioned by the genetic variability of xenobiotic metabolizing enzymes; 2) whereas in familial cases missense mutations are more common; this difference allowed us to define a prognostic factor for the occurrence of RCC in a VHL context. In order to look for genotypes conferring a higher risk we genotyped the RCC patients for 8 different genes (50 genotypes). A significant relationship was observed for several combinations of alleles including CYP1A1 ("variant"), NAT2 and NAT1 (slow) and GSTM1 (null allele). Associations between specific mutational profiles and at risk genotypes at different tumoral stages should allow us to: 1) define more precisely the nature of specific patterns of mutations in relation with the deficiency or overexpression of such or such enzymes in presence of particular carcinogens; 2) demonstrate that certain combinations of genotypes confer a particular risk to develop a specific type of tumor in VHL patients. Thus tracking of potentially carcinogenic substances, through their footprints and through identification of conditionally detrimental genotypes of genes participating in their detoxification should permit a better prevention through an appropriate nutrition adapted to each individual.

Acetylation↗
PubMed1999

Candidate genetic modifiers of individual susceptibility to renal cell carcinoma: a study of polymorphic human xenobiotic-metabolizing enzymes.

The steady increase in sporadic renal cell carcinoma (RCC) observed in industrialized countries supports the notion that certain carcinogens present in the environment (tobacco smoke, drugs, pollutants, and dietary constituents) may affect the occurrence of RCC. Many of the enzymes dealing with such environmental factors are polymorphic and may, therefore, confer variable susceptibility to RCC. This case-control study was designed to test for an association between genetic polymorphism of enzymes involved in xenobiotic metabolism and the risk of sporadic RCC. Genomic DNA was obtained from 173 patients with RCC and 211 controls of Caucasian origin. We used PCR-RFLP to investigate polymorphism for the most common alleles at two cytochrome-P450 mono-oxygenases (CYP1A1 and CYP2D6), one NAD[P]H:quinone oxidoreductase (NQO1), three glutathione S-transferases (GSTM1, GSTT1, and GSTP1), and one N-acetyltransferase (NAT2) loci. The CYP1A1 (m) "variant" genotype, which contains at least one copy of the CYP1A1 variant alleles, was found to be associated with a 2.1-fold [95% confidence interval (CI), 1.1-3.9] increase in the risk of RCC. There was also a higher risk of RCC for subjects with the CYP1A1 (m) variant genotype combined with any of the following genotypes: GSTT1 (+) "active" [odds ratio (OR), 2.3; 95% CI, 1.2-4.5], GSTP1 (m) variant (OR, 2.4; 95% CI, 1.0-5.4), or NAT2 (-) "slow acetylator" (OR, 2.5; 95% CI, 1.1-5.5). A significant association was also found for the GSTM1 (-) "null" and GSTP1 (m) genotypes combined with either NAT2 (-) (OR, 2.6; 95% CI, 1.2-5.8) or CYP1A1 (m) (OR, 3.5; 95% CI, 1.1-11.2). The CYP2D6 (-) "poor metabolizer " and the NQO1 (-) "defective" genotypes were not clearly associated with a higher risk of RCC. Our data demonstrate for the first time a significant association between a group of pharmacogenetic polymorphisms and RCC risk. These positive findings suggest that interindividual variation in the metabolic pathways involved in the functionalization and detoxification of specific xenobiotics is an important susceptibility factor for RCC in Caucasians.

Adult↗
PubMed1999

Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.

To investigate the nature of somatic von Hippel-Lindau (VHL) mutations, we analyzed 173 primary sporadic human renal cell carcinomas for mutations of the VHL tumor suppressor gene, using polymerase chain reaction (PCR) and single-strand conformational polymorphism analysis (SSCP) of DNA. We detected abnormal SSCP pattern in 73 samples. After sequencing, we identified microdeletions in 58% of cases, microinsertions in 17%, nonsense mutations in 8%, and missense mutations in 17%. Among these mutations, 50% correspond to new mutations. VHL mutations were found only in the nonpapillary renal cell carcinoma (RCC) subtype, as previously reported. To compare somatic and germline mutations, we used the VHL database, which includes 507 mutations. The study of mutational events revealed a significant difference between somatic and germline mutations with mutations leading to truncated proteins observed in 78% of somatic mutations vs only 37% in germline mutations (P < 0.001). We postulated that a specific pattern of VHL mutations is associated with sporadic RCC. This pattern corresponds to mutations leading mainly to truncated proteins with few specific missense mutations. We then analyzed the occurrence of RCC in VHL families, based on the nature of mutations. We observed RCC in at least one member of the VHL families in 77% of cases with mutations leading to truncated proteins versus 55% in cases with missense mutations (P < 0.05). Thus, mutations resulting in truncated proteins may lead to a higher risk of RCC in VHL patients.

Adult↗
PubMed1999

Tubular ectasia of the rete testis: a potential pitfall in scrotal imaging.

Tubular ectasia of the rete testis (TERT) is a benign entity due to dilation of the tubules of the rete testis. Most of the time it is discovered incidentally on scrotal sonograms and may be misinterpreted as malignant. This article outlines the diagnostic criteria of TERT, its possible causes, its incidence and its potential evolution. Recognizing this entity owing to its characteristic clinical, sonographic and, if necessary, MRI features is important to avoid unnecessary surgery or biopsies.

Diagnosis, Differential↗
PubMed1999

Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis.

Few cases of infantile liver disease associated with mitochondrial DNA (mtDNA) depletion have been reported. Most of the patients died before 1 year of age of severe liver failure. We describe a new case, a 28-month-old child, presenting with cholestasis at age 2 months, complicated by progressive portal and lobular liver fibrosis. Growth and psychomotor development are undisturbed. There is no clinical evidence of either myopathy or neurological involvement. Metabolic investigation in plasma revealed an abnormal oxido-reduction status after fasting and after carbohydrate-rich meals. Light microscopy performed on liver biopsies revealed steatosis, abnormal hepatocytes with an "oncocytic" appearance and extensive fibrosis. Electron microscopic investigation showed an increased number of mitochondria with rare or enlarged cristae. Biochemical studies of liver biopsies showed that the respiratory chain activities containing mtDNA-encoded subunits were severely decreased (complexes I, III and IV). In contrast, the complex II activity was normal and the citrate synthase activity was greatly increased. Southern blotting analysis revealed that the ratio of mtDNA to nuclear DNA in liver was only 15% and 20% of the mean control value at ages 12 and 21 months, respectively. For this mtDNA depletion syndrome which is clinically expressed in the liver, a liver transplantation is discussed.

Child, Preschool↗
PubMed1999

Isolated deficient alpha6beta4 integrin expression in the gut associated with intractable diarrhea.

BACKGROUND: An infant born with pyloric atresia had development of intractable diarrhea and was found to have total epithelial detachment of gastric and small and large bowel mucosa. She had no skin abnormalities. Parental consanguinity and pyloric atresia in a sibling who died without autopsy suggest an inherited origin for this disorder. The purpose of this study was to examine defects in intestinal and skin cell adhesion. METHODS: Histologic, immunohistochemical, and ultrastructural characteristics of the skin and gut of the patient were compared with that of normal control subjects. Distribution of adhesion molecules was determined. RESULTS: Immunofluorescent analysis of the digestive mucosa showed alpha6beta4 integrin expression deficiency at the epithelial cell-lamina propria junction. Ultrastructural examination of the digestive mucosa revealed a complete epithelial detachment with a cleavage plane lying between the lamina densa and the basal pole of the enterocytes. Consistent with the absence of skin blistering, integrin alpha6beta4 was expressed at the dermal-epidermal junction. Electron micrographs of skin biopsy specimens showed the presence of normal hemidesmosomes and the absence of dermal-epidermal dysadhesion. CONCLUSION: It was postulated that this patient had protracted diarrhea related to epithelial detachment of the digestive mucosa as a consequence of a deficiency of an integrin alpha6beta4 isoform specific to the gut.

Antigens, Surface↗
PubMed1999

Differential RNA expression of the pS2 gene in the human benign and malignant prostatic tissue.

PURPOSE: The pS2 trefoil protein has been detected in close association with neuro-endocrine differentiation in prostate cancer and prostatic intraepithelial neoplasia. These preliminary results have suggested that pS2 is a candidate as a specific marker for prostate cancer tissue. To ascertain the specificity of pS2 in prostate cancer tissue, we have used an RT-PCR method from prostate biopsies provided from human malignant and benign prostatic hyperplasia (BPH) tissue. MATERIALS AND METHODS: Prostate biopsies were obtained from transrectal biopsies from 153 patients with an abnormal DRE or a PSA more than 4 ng./ml. or symptoms of BPH and a PSA more than 4 ng./ml. Total RNA was extracted from fresh frozen specimens of tissue samples. Detection of pS2 transcript compared with GADPH transcripts was done using RT-PCR. RESULTS: Biopsy results showed that 108 patients had prostate cancer (average Gleason score 6.39+/-0.74) and 45 patients had BPH. PS2 RT-PCR results showed that PS2 RNA expression was negative in 83% of the BPH cases. Conversely, 92% of prostate cancer specimens were positive (Chi-square: 86.09, p<0.001). There was no correlation with tumor stage or the Gleason score. Comparing the expression of pS2 in BPH and localized prostate cancer, we found a sensitivity of 92% and a specificity of 82%. CONCLUSIONS: On this large sample of prostate biopsies from patients at risk of having prostate cancer, pS2 was demonstrated as an interesting marker significantly associated with prostate cancer. Further work on the expression of pS2 according to differentiation and hormonal status is in progress.

Estrogens↗
PubMed1999

Local control of prostate cancer by transrectal high intensity focused ultrasound therapy: preliminary results.

PURPOSE: We conducted a phase I/II study to evaluate the efficacy of transrectal high intensity focused ultrasound in the treatment of localized prostate cancer and to assess associated complications. The efficacy of a new high intensity ultrasound device was evaluated using post-treatment prostate specific antigen (PSA) levels and histological results from prostate biopsies as end points. MATERIALS AND METHODS: A total of 113 transrectal high intensity focused ultrasound sessions were performed in 50 patients with localized prostate cancer, who were not suitable candidates for radical prostatectomy. Of these patients 2 underwent salvage ultrasound treatment for locally recurrent cancer following definitive radiation therapy. Mean plus or minus standard deviation patient age, PSA and prostate volume were 70.7+/-4.54 years, 9.61+/-7.42 ng./ml. and 37.3+/-19.1 cc. The 2 different high intensity ultrasound prototypes were successfully used, and the latter prototype included several safety devices to reduce morbidity. Median followup was 24 months (range 3 to 46). Control parameters were changes in PSA and random control sextant biopsies at 1 to 3, 3 to 12, 12 to 24, 24 to 36 and 36 to 48 months. RESULTS: For the evaluation of therapy patients were divided into 4 groups. Group 1 (complete response) included 28 patients (56%) with no residual cancer and PSA less than 4 ng./ml. (mean 0.93), group 2 (biochemical failure) 3 patients (6%) with no residual cancer and PSA greater than 4 ng./ml. (mean 6.22), group 3 (biochemical control) 9 patients (18%) with residual cancer (mean positive biopsy 1.1 of 6) and PSA less than 4 ng./ml. (mean 0.90), and group 4 (failures) 10 patients (20%) with residual cancer (mean positive biopsies 1.9 of 6) and PSA greater than 4 ng./ml. (mean 8.9). Of the 10 cases in group 4 hormone therapy was required in 3 and radiotherapy in 5. Complication rate with the first prototype device was 50% and it decreased to 17% with the second prototype. CONCLUSIONS: Morbidity associated with high intensity focused ultrasound treatment is currently minimal. Local control of the localized prostate cancer was observed in groups 1, 2 and 3 (80%). Repeat sessions were deferred in groups 2 and 3 based on changes in PSA. These preliminary data suggest that high intensity focused ultrasound represents a valid alternative treatment strategy for patients with localized prostate cancer who are unsuitable for surgery.

Aged↗
PubMed1999

A new lethal syndrome of exomphalos, short limbs, and macrogonadism.

We report a new lethal multiple congenital abnormality (MCA) syndrome of exomphalos, short limbs, nuchal web, macrogonadism, and facial dysmorphism in seven fetuses (six males and one female) belonging to three unrelated families. X rays showed enlarged and irregular metaphyses with a heterogeneous pattern of mineralisation of the long bones. Pathological examination showed adrenal cytomegaly, hyperplasia of Leydig cells, ovarian stroma cells, and Langherans cells, and renal microcysts. We suggest that this condition is a new autosomal recessive MCA syndrome different from Beckwith-Wiedemann syndrome, especially as no infracytogenetic deletion or uniparental disomy of chromosome 11 was found.

Abnormalities, Multiple↗
PubMed1999

[Recommendations for reforming prostatic specimens. Les Membres du Sous-Comité Prostate du Comité de Cancerologie de l'Association Française d'Urologie].

The purpose of these recommendations proposed by the members of the < >, is to provide an informative report for the clinician and the pathologist, in the management of patients with prostate cancer. These recommendations are common to the ADSAP and UICC recommendations on prostate cancer. Standardized forms are recommended to be included in every report.

Biopsy↗
PubMed1998

Gastric necrosis in newborns: a report of 11 cases.

Eleven neonates ranging in gestational age from 34 to 40 weeks presented with gastric necrosis. The 4 full-term neonates showed sudden-onset hemorrage and "coffee-ground" vomiting; in the 7 premature babies the initial clinical finding was abdominal distention. The criteria for diagnosis were: perinatal distress in prematures and transient neonatal respiratory distress in full-term babies. Radiographic evidence of gastric distention was typical and preceded clinical signs of hematemesis and gastric perforation. Surgery was performed in 8 patients; 3 received medical treatment. At surgery 1 total and 3 subtotal gastrectomies and 4 segmental gastric resections were performed. Three of these patients died post-operatively as a consequence of multiorgan failure; a second look was necessary in one patient 1 week after surgery because of prepyloric perforation due to ulcers. Biopsy specimens taken from the site of perforation demonstrated extensive necrosis; ulceration was disseminated in the surrounding gastric mucosa; no signs of phlogosis were detected. The diagnosis, treatment, and physiopathologic considerations are reviewed.

Biopsy↗
PubMed1998

Autoimmune enteropathy in infants. Pathological study of the disease in two familial cases.

In two brothers with autoimmune enteropathy there was total villous atrophy in the small intestine and marked lymphoid cell infiltration in the lamina propria of the entire digestive tract, discovered at autopsy in one of these patients. In addition, the pancreas showed diffuse interstitial infiltration by lymphocytes. The liver was enlarged, with extensive haematopoiesis and cholestasis. Similar lesions in the digestive tract were noticed in the second boy, but on immunosuppressive therapy his diarrhoea gradually disappeared. When he was 16 months of age, percutaneous biopsies showed moderately aggressive chronic hepatitis and a focal interstitial lymphoid infiltrate in the kidney. After 3 years of immunosuppressive therapy (prednisone, cyclosporin), the child ate well and total parenteral nutrition was discontinued. The intestinal lesions had regressed but fibrotic lesions of the liver persisted.

Anti-Inflammatory Agents↗