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Biomedical subjects

R Bouvier

Publications and source records attributed to R Bouvier.

At least 19 recordsLinked to original sources

Prenatal presentation of cervical congenital neuroblastoma.

OBJECTIVE: To describe a cervical neuroblastoma revealed in the prenatal period. METHOD: We were recently confronted with a case of fetal solid neck mass suggestive of teratoma, which proved postnatally to be a neuroblastoma. Combining this case with a review of recent literature, we have evaluated the diagnostic tools required for increased precision in the prenatal diagnosis and perinatal management of fetal solid neck masses. RESULTS: Detailed ultrasound and MRI of fetal neck and liver, in conjunction with amniocentesis for measurement of homovanillic acid levels, should enable fetal medical practitioners to consider the diagnosis of fetal cervical neuroblastoma. CONCLUSION: Fetal cervical neuroblastoma is an extremely rare condition that has not been previously reported, but should be considered in the presentation of fetal solid neck masses.

Adult↗

[Polyarteritis nodosa revealed by acute cholecystitis].

UNLABELLED: Acute cholecystitis revealing polyarteritis nodosa is classic but rare in adulthood. We report two cases observed during childhood. CASE REPORTS: The association of a persistent inflammatory syndrome, positive antineutrophil cytoplasm antibodies and of a vasculitis with fibrinoïd necrosis led to the diagnosis in two pediatric patients. CONCLUSION: The diagnosis of polyarteritis nodosa is difficult and often delayed. Cholecystectomy can help to such a diagnosis in the presence of acute cholecystitis.

Child↗

Detection of bladder dysplasia using 5-aminolaevulinic acid-induced porphyrin fluorescence.

OBJECTIVE: To report results of a clinical investigation on the detection of bladder dysplasia and in situ carcinoma by using fluorescence induced by 5-aminolaevulinic acid (ALA). PATIENTS AND METHODS: The study included 50 patients with a primary bladder lesion, who had a bladder instillation of 50 mL of 3% ALA solution >or= 1 h before transurethral resection of the tumour. Random biopsies were taken using white-light cystoscopy, then using blue light to induce fluorescence; positive zones were noted and biopsied. The primary lesion was then resected. The frequency of dysplasia detected by ALA-induced fluorescence was evaluated, as was the risk of recurrence with a follow-up of >or= 2 years. RESULTS: In all patients the tumours were positive; in 21 fluorescence distant from the tumour was detected. The pathological report of the biopsies showed 11 cases of dysplasia, six of carcinoma in situ and four of inflammatory lesions. In 29 patients there was no fluorescence and quadrant biopsies were normal in all but three with moderate dysplasia. Within the minimum follow-up patients with bladder dysplasia detected by ALA-induced fluorescence had a higher risk of recurrence. CONCLUSION: ALA-induced fluorescence of the bladder significantly enhanced the detection of dysplasia and in situ carcinoma. However, this technique requires further investigation using well-characterized instrumentation and study protocols to determine any effect on treatment choice.

Aminolevulinic Acid↗

Microarchitectural and physical changes during fetal growth in human vertebral bone.

The ossification process in human vertebra during the early stage of its formation was studied by X-ray diffraction (XRD) and X-ray microtomography (microCT) at the European Synchrotron Radiation Facility (ESRF), Grenoble, France. Twenty-two samples taken from vertebral ossification centers of human fetal bone (gestational age ranging between 16 and 26 weeks) were investigated. The analysis of three-dimensional images at high spatial resolution (approximately 10 and approximately 2 microm) allows a detailed quantitative description of bone microarchitecture. A denser trabecular network was found in fetal bone compared with that of adult bone. The images evidenced a global isotropic structure clearly composed of two regions: a central region (trabecular bone) and a peripheral region (immature bone). XRD experiments evidenced hydroxyapatite-like crystalline structure in the mineral phase at any fetal age after 16 weeks. Interestingly, the analysis of XRD patterns highlighted the evolution of crystalline structure of mineralized bone as a function of age involving the growth of the hydroxyapatite crystallites.

Adult↗

[Standards, options, and recommendation for external radiotherapy of prostatic cancer: evaluation of the effect of dosage].

CONTEXT: The "Standards, Options and Recommendations" (SOR) collaborative project was initiated in 1993 by the Federation of the French Cancer Centres (FNCLCC), with the 20 French Regional Cancer Centres, several French public university and general hospitals, as well as private clinics and medical speciality societies. Its main objective is the development of serviceable clinical practice guidelines in order to improve the quality of health care and the outcome of cancer patients. The methodology is based on a literature review, followed by critical appraisal by a multidisciplinary group of experts. Draft guidelines are produced, then validated by specialists in cancer care delivery. OBJECTIVES: Produce clinical practice guidelines for the radiotherapy of prostate cancer using the methodology developed by the Standards, Options and Recommendations project. METHODS: The FNCLCC and the French Urology Association (AFU) designated the multidisciplinary group of experts. Available data were collected by a search of Medline and lists selected by experts in the group. A first draft of the guidelines was written, they validated by independent reviewers. RESULTS: The main recommendations are: 1/ a minimal dose of 70 Gy must be used, whatever the prognostic factors; 2/ it appeared that patients with favourable prognostic indicators (stage T1-2, PSA < or = 10 micrograms/L and Gleason score < or = 6) do not benefit from a dose escalation effect for doses over 70-74 Gy; 3/ patients with intermediate prognosis are the ones who benefit most from the dose escalation effect over 74 Gy, provided they receive exclusive radiation therapy; 4/ whenever possible, patients should be included in controlled trials designed to assess the effects of dose escalation and hormonotherapy.

Humans↗

Human fetal bone development: histomorphometric evaluation of the proximal femoral metaphysis.

Quantitative data on metaphyseal bone histology during early human development are scarce. In the present study the proximal femoral metaphysis of 35 fetuses and newborns (gestational age 16-35 weeks) was analyzed by histomorphometry. Averaged over the entire metaphyseal area, the relative amount of bone and cartilage was higher in the third compared to the second trimester. Osteoid thickness increased with gestational age, whereas indices of bone resorption decreased. The relative amount of cartilage decreased with increasing distance from the growth plate, whereas the relative amount of bone increased. This was due to trabecular thickening, which occurred at an estimated rate of 3 microm/day in areas close to the growth plate. Despite this rapid rate of net bone gain, osteoid indices were relatively low, indicating that mineralization occurred very rapidly after bone deposition. These observations suggest that modeling, not remodeling, is the predominant mechanism responsible for the development of femoral metaphyseal cancellous bone in utero.

Analysis of Variance↗

Carcinoid tumors of the appendix in children.

We report ten cases of carcinoid tumor of the appendix observed in children from 1988 to 1996. The patients included six females and four males with an average age of 13 years at presentation. They were admitted after complaining of pain in the lower abdominal quadrant. In eight children who presented with symptoms of acute appendicitis, the tumor was located at the tip of the appendix. Diagnosis was performed after appendicectomy (AE) and pathologic examination, which revealed a tumor slightly under 1 cm in size. Two other children were admitted with clinical signs of peritonitis due to larger tumors measuring more than 2 cm on the base of the appendix. One patient underwent a cecectomy, the other a right hemicolectomy. For all patients follow-up was 3 years, and all recovered fully. According to these findings and a review of the literature, we suggest conservative surgical procedures in children. More than 70% of these tumors are localized at the tip of the appendix and represent an incidental pathologic finding during AE; AE alone is curative. Patients with a bulky tumor of the appendicular base measuring 2 cm and invading the serosa and mesoappendix without metastases may be treated with a cecectomy; ileocecal resection may be indicated in cases where the tumor has infiltrated tissue beyond the cecum with localized metastases and in patients with incomplete gross resection. Right hemicolectomy is questionable in this age group and restricted to rare conditions.

Adolescent↗

Lupus nephritis in a child with AIDS.

Concomitant acquired immunodeficiency syndrome (AIDS) and lupus nephritis is an exceptional feature in white patients. A white boy with maternofetal human immunodeficiency virus (HIV) infection had no medical follow-up until he presented at 12 years of age with a nephrotic syndrome, macrohematuria, renal failure, pancytopenia, and low CD4(+) cell count. A renal biopsy revealed severe lupus nephritis (World Health Organization class IV) with specific immune deposits in the absence of any clinical sign of systemic lupus erythematosus or specific autoantibodies at the time of diagnosis. The treatment consisted of methylprednisolone pulses followed by oral prednisone; antiretroviral triple therapy was started a few weeks later, which contributed to clinical and biologic improvement. To our knowledge, this is the first case report of lupus-like nephritis in a white child with AIDS, whose outcome might be improved significantly by a combination of steroids and antiretroviral therapy.

AIDS-Associated Nephropathy↗

[Collagen gastritis, an unusual cause of anemia in children. Report of 2 cases].

UNLABELLED: When a child presents a severe anemia or resistant to iron supplementation, an upper gastrointestinal endoscopy has to be realized to find special causes. CASE REPORTS: We report observations of two patients, respectively 11 and 12 years old, who were admitted to hospital for a severe microcytic, hypochromic, aregenerative anemia (hemoglobin less than 50 g/L) due to an iron deficiency. The two children's history did not reveal a deficient diet, gastrointestinal tract disorder, ingested toxic or gastrotoxic drugs, or exteriorized hemorrhage. Upper gastrointestinal endoscopy showed a macroscopic pattern of gastritis. The stomach biopsies revealed subepithelial collagenous deposits. CONCLUSION: The collagenous gastritis involves lesions similar to those described in the small intestine (collagenous sprue) and colon (collagenous colitis). The pathogenic factors of the three entities are presently unknown, but they are often associated with autoimmune pathology. These two observations are the third and the fourth pediatric cases described.

Anemia↗

[Pigmented villonodular synovitis. Diffuse and localized forms in children].

UNLABELLED: Pigmented villonodular synovitis (PVS) is characterized by a locally aggressive synovial proliferation that engenders progressive destruction of cartilage and bone. Two cases, a diffuse and a localized form, are reported. CASE REPORT: 1) A 9.9-year-old boy followed up for a popliteal cyst presented with chronic arthritis of the left knee. Aspiration yielded a bloody synovial fluid. MRI showed a heterogeneous synovial process with decreased signal in both T1- and T2-weighted images. The diagnosis of PVS was made on histology of an excisional biopsy. A complete open synovectomy was then performed. 2) A 13.8-year-old boy had a palpable mass on the internal side of the right patellofemoral joint. MRI showed a heterogenous mass with areas of hypointensity on all spin echo sequences corresponding to hemosiderin deposits suggestive of PVS. Surgical excision of a reddish-brown circumscribed lesion was performed. Diagnosis of PVS was made at surgery and confirmed by histologic examination. CONCLUSION: PVS diagnosis is frequently delayed due to nonspecific symptoms. Bloody fluid aspiration and MRI are valuable tools for early diagnosis. Treatment is surgical: extensive synovectomy for the diffuse form, excision of the lesion for the localized form.

Adolescent↗

[Meconium periorchitis. Two case reports].

CASE REPORTS: Two cases of meconium periorchitis respectively in a ten-day- and a five-month-old infant are reported. The presenting symptom was a scrotal mass, isolated in one case and associated with pain and inflammation in the other case. Intraoperative histological diagnosis allowed conservative surgery in one case. COMMENTS: About 40 cases of scrotal manifestations of an intrauterine perforation of the gastrointestinal tract are reported in the literature. In cases with associated intraperitoneal calcifications, the diagnosis is easy and surgical exploration may be avoided, spontaneous resolution being the rule. However, in half of the cases, a scrotal mass is the only manifestation and raises the question of a testicular tumor. CONCLUSION: Unfamiliarity with this unusual entity may lead to unnecessary orchiectomy.

Diagnosis, Differential↗

Does nephroblastomatosis influence the natural history and relapse rate in Wilms' tumour? A single centre experience over 11 years.

The presence of multifocal or diffuse nephrogenic rests (NRs) in one or both kidneys is termed nephroblastomatosis (Nbm). Nbm may be a predisposing factor for Wilms' tumour (WT). The aim of this retrospective study was to evaluate the impact of Nbm on the outcome of WT in children. We assessed the outcome of 81 children with Wilms tumours and practical implications of Nbm in the treatment and follow-up. All the pathology slides have been reviewed in 1997. 63 had WT without Nbm (group A) and 18 had WT associated with Nbm (group B). There was no statistical difference between the two groups according to the age at diagnosis and histology. Clinical abnormalities were more frequent in group B (33 versus 8%). There was no statistical difference between the percentage of stage IV in both groups, but bilaterality (stage V) was present only in the group B. Relapse was observed in 20/81 patients (25%): 11 (17%) in group A and 9 (50%) in group B. Mean delay of relapse was longer (25 months) in group B than in group A (10 months). For the whole population, with a median follow-up of 9 years, the event-free survival (EFS) and the overall survival (OS) probabilities were respectively 74%+/-10 and 83%+/-9 at 120 months. The difference in EFS between groups A (82+/-9%) and B (38%+/-29) was significant (P=0.004). The discovery of Nbm in the non-tumoral part of the kidney with WT can be an adverse factor and in particular favours the subsequent development of a new Wilms tumour. It justifies separate follow-up guidelines.

Adolescent↗

[Standards, Options, and Recommendations for brachytherapy in patients with prostate cancer: efficacy and toxicity].

CONTEXT: The "Standards, Options and Recommendations" (SOR) collaborative project was initiated in 1993 by the Federation of the French Cancer Centres (FNCLCC), with the 20 French Regional Cancer Centres, several French public university and general hospitals, as well as private clinics and medical specialty societies. Its main objective is the development of serviceable clinical practice guidelines in order to improve the quality of health care and the outcome of cancer patients. The methodology is based on a literature review, followed by a critical appraisal by a multidisciplinary group of experts. Draft guidelines are produced, then validated by specialists in cancer care delivery. OBJECTIVES: Produce clinical practice guidelines for the brachytherapy of prostate cancer using the methodology developed by the Standards, Options and Recommendations project. METHODS: The FNCLCC and the French Urology Association (AFU) first designated the multidisciplinary group of experts. Available data were collected by a search of Medline and lists selected by experts in the group. A first draft of the guidelines was written, they validated by independent reviewers. RESULTS: The main recommendations are: 1/Brachytherapy with permanent seeds alone is a possible curative treatment for prostate cancer patients with the following prognosis factors: tumour stage T1 or T2a (TNM 1992), Gleason score < or = 6 and PSA < 10 micrograms/L. 2/Combined treatment with brachytherapy and hormonal therapy could be more efficient than brachytherapy alone for prostate cancer patients with Gleason score > 7 and/or PSA > 10.3/Combination of brachytherapy and external beam radiation therapy can be proposed to prostate cancer patients with intermediate prognosis. 4/Before and after seed implantation, risks of infection must be prevented by appropriate antibiotic therapy (recommendation). 5/Brachytherapy must not be performed within 2 months of transurethral prostate resection. 6/The height of the urethra receiving more than 200% of the prescribed dose must be reported. The portion of the rectum receiving 100 and 120% of the prescribed dose must be limited to 10 and 5 mm length, respectively.

Antineoplastic Agents, Hormonal↗

Expression of hMLH1 and hMSH2 and assessment of microsatellite instability in testicular and mediastinal germ cell tumours.

The aim of this study was to investigate DNA mismatch repair deficiency in male germ cell tumours. We analysed the expression of two mismatch repair proteins, human mutL homologue 1 (hMLH1) and human mutS homologue 2 (hMSH2), and evaluated the frequency of microsatellite instability with 10 mononucleotide and two dinucleotide repeat sequences, in 39 paired tumour/normal DNA samples obtained from 17 testicular and two mediastinal germ cell tumours. In all 19 cases, hMLH1 and hMSH2 both showed nuclear immunolocalization in invasive and testicular in-situ tumours. In non-neoplastic seminiferous tubules, hMLH1 was expressed only in premeiotic germ cells, while hMSH2 was seen in all stages of spermatogenesis. Genetic analysis of dinucleotide markers revealed loss of heterozygosity in one of two testicular yolk sac tumours at D18S58 and an allelic shift at D2S123 in two of three testicular embryonal carcinomas, while none of the 12 seminomas exhibited a genetic abnormality at these loci. No abnormalities were demonstrated with the 10 mononucleotide markers. The two mediastinal germ cell tumours showed no genetic instability or allelic loss with all 12 markers. We suggest that genetic alterations as assessed by microsatellite analysis in germ cell tumours may reflect tissue maturation and phenotypic differentiation rather than tumour progression. In addition, we suggest that hMLH1 and hMSH2 genes may not be implicated in the genesis of germ cell tumours.

Adaptor Proteins, Signal Transducing↗

Collagenous gastritis: a report of six cases.

Collagenous gastritis is an exceptional entity with eight cases documented to date characterized by the presence of a thick subepithelial collagen band associated with an inflammatory infiltrate of the gastric mucosa. The aim of our study was to describe the clinical and histologic characteristics of six new cases of collagenous gastritis. All cases showed a subepithelial collagen band that averaged 30 microm but often measured up to 120 microm. This finding was almost always accompanied by mixed chronic inflammation in the lamina propria and by surface epithelial damage of varying severity. Our study seems to delineate two subsets in patients with collagenous gastritis: 1) collagenous gastritis occurring in children and young adults presenting with severe anemia, a nodular pattern on endoscopy, and a disease limited to the gastric mucosa without evidence of colonic involvement, and 2) collagenous gastritis associated with collagenous colitis occurring in adult patients presenting with chronic watery diarrhea. These findings highlight the fact that subepithelial collagen deposition may be a generalized disease affecting the entire gastrointestinal tract.

Adult↗

Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma.

The von Hippel-Lindau (VHL) tumour suppressor gene is commonly mutated in renal cell carcinoma of clear cell type (CCRCC). We investigated the possible relationship between VHL mutations in sporadic CCRCC and polymorphism of genes encoding enzymes involved in carcinogen metabolism: two cytochrome P450 monooxygenases (CYP1A1 and CYP2D6), one NAD[P]H:quinone oxidoreductase (NQO1), three glutathione S-transferases (GSTM1, GSTT1 and GSTP1) and two arylamine N-acetyltransferases (NAT1 and NAT2). We analysed DNA from tumour and nontumoural kidney tissue from 195 CCRCC patients. Single VHL mutations were identified in 88 patients and double mutations were present in two patients. Nine of 18 transversions were GC to TA, four were AT to TA, four were GC to CG and one was AT to CG. Ten of 19 transitions were GC to AT and nine were AT to GC. We also identified 53 frameshifts and two GC to AT at CpG. An excess of transversions was observed in a subset of patients with active GSTT1 [GSTT1 (+) genotype] and probably defective NAT1 (NAT1 S/R variant genotype). All 18 transversions were in GSTT1 (+) patients, whereas only 76% of transitions (P = 0.05) and 81% of the other mutations (P = 0.06) occurred in this genotype. We found that 28% of the transversions were in the NAT1 S/R genotype versus 12% of the transitions (P = 0.40) and 4% of the other mutations (P = 0.01). This suggests that pharmacogenetic polymorphisms may be associated with the type of acquired VHL mutation, which may modulate CCRCC development.

Acetyltransferases↗

Transrectal high intensity focused ultrasound for the treatment of localized prostate cancer: factors influencing the outcome.

OBJECTIVES: Efficacy evaluation of high intensity focused ultrasound (HIFU) treatment for localized prostate cancer and identification of the factors affecting the outcome. PATIENTS AND METHODS: 102 patients with prostate cancer stage T1-T2 and noncandidates for radical prostatectomy have been treated with HIFU (Ablatherm, EDAP-Technomed). The disease progression (failure) was strictly defined by any positive sample at control biopsies, whatever the prostate-specific antigen (PSA) level, or by 3 consecutive increases in PSA levels in case of negative biopsies. RESULTS: At inclusion, patients' baseline characteristics were (mean +/- standard deviation): age 70.8 (+/-6.13) years, PSA 8.38 (+/-4.8) ng/ml, prostate volume 33.3 (+/-16.71) cm3. The population mean follow-up was 19 months (3-76 months). The overall success rate was 66%. Statistically significant variations of the overall success with a more favorable outcome were observed when (1) the initial PSA level was < or =10 ng/ml (73 vs. 50%, p = 0.02), (2) the Gleason score was < or =6 (81 vs. 46%, p<0.001) and (3) the pretreatment sextant biopsy evidenced 1-4 positive samples (68 vs. 40%, p = 0.01). CONCLUSION: Results observed after HIFU treatment in localized prostate cancer are now challenging those obtained after radiation therapy. The success rate is influenced by disease-related prognostic factors.

Aged↗