Search PubMed⌕ Search

Biomedical subjects

R Bouvier

Publications and source records attributed to R Bouvier.

At least 19 recordsLinked to original sources
PubMed2007

hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities.

Rhabdoid tumours (RTs) are rare but highly aggressive tumours of childhood. Their rarity and their miscellaneous locations make the diagnosis particularly challenging for pathologists. Central nervous system and peripheral RTs have been associated with biallelic inactivation of the hSNF5/INI1/SMARCB1 (hSNF5/INI1) tumour suppressor gene. Immunohistochemistry (IHC) with a monoclonal anti-hSNF5/INI1 antibody has recently been proposed as an efficient diagnostic tool for RTs. We have conducted a retrospective study of 55 tumours referred to our institution with a suspicion of RT. This analysis included pathological review, IHC with anti-hSNF5/INI1 antibody, and molecular investigation using quantitative DNA fluorescent analysis and sequencing of the nine exons of hSNF5/INI1. The molecular lesion could be detected in 37 of the 39 cases exhibiting negative staining for hSNF5/INI1. In the two discrepant cases, the lack of detection of genetic abnormality was probably owing to the presence of a high number of non-tumour cells in the samples. This indicates that hSNF5/INI1 IHC is very sensitive and highly specific for the detection of hSNF5/INI1 loss-of-function. Among the 38 cases with typical RT histological features, six failed to exhibit hSNF5/INI1 mutation and stained positive for hSNF5/INI1. This strongly supports the evidence of a second genetic locus, distinct from hSNF5/INI1, associated with RT. Conversely, seven tumours with histological features poorly compatible with RT stained negative for hSNF5/INI1; they nevertheless exhibited an age of onset and a clinical behaviour similar to RT. This suggests that hSNF5/INI1 inactivation is not strictly limited to typical RT but characterizes a wider family of hSNF5/INI1-deficient tumours. Consequently, we believe that anti-hSNF5/INI1 IHC should be performed widely, even when the pathological characteristics are not typical. The molecular investigation should be performed in infants when a rhabdoid predisposition syndrome is suspected.

Adult↗
PubMed2005

Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family.

We report on a family of three consecutive fetuses affected by type IV glycogen storage disease (GSD IV). In all cases, cervical cystic hygroma was observed on the 12-week-ultrasound examination. During the second trimester, fetal hydrops developed in the first pregnancy whereas fetal akinesia appeared in the second pregnancy. The diagnosis was suggested by microscopic examination of fetal tissues showing characteristic inclusions exclusively in striated fibers, then confirmed by enzymatic studies on frozen muscle. Antenatal diagnosis was performed on the third and fourth pregnancies: cervical cystic hygroma and low glycogen branching enzyme (GBE) activity on chorionic villi sample (CVS) were detected in the third pregnancy whereas ultrasound findings were normal and GBE activity within normal range on CVS in the fourth pregnancy. Molecular analysis showed that the mother was heterozygous for a c.1471G > C mutation in exon 12, leading to the replacement of an alanine by a tyrosine at codon 491 (p.A491T); the father was heterozygous for a c.895G > T mutation in exon 7, leading to the creation of a stop codon at position 299 (p.G299X). GSD IV has to be considered in a context of cervical cystic hygroma with normal karyotype, particularly when second trimester hydrops or akinesia develop. Enzymatic analysis of GBE must be performed on CVS or amniotic cells to confirm the diagnosis. Characteristic intracellular inclusions are specific to the disease and should be recognized, even in macerated tissues after fetal death. Genetic analysis of the GBE gene may help to shed some light on the puzzling diversity of GSD IV phenotypes.

Adult↗
PubMed2005

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

BACKGROUND: Sialic acid storage diseases (SASDs) are caused by the defective transport of free sialic acid outside the lysosome. Apart from the Salla presentation in Finland, SASD is a very rare form of lysosomal storage disease (LSD) with approximately 35 cases, all diagnosed after birth, having been reported worldwide. We report a series of 12 French patients with very early manifestations, including eight fetuses diagnosed in utero. RESULTS: Ultrasound examination, fetal autopsy, or clinical examination showed prominent ascites, rarely progressing to complete hydrops, and highlighted the early severity of bone disease. Dramatic increase of free sialic acid in various biological samples confirmed the diagnosis in all cases. Storage staining affinities and storage distribution in placenta and fetal organs allowed differential diagnosis from other LSDs but cannot differentiate between SASD, sialidosis, and galactosialidosis. Fourteen different mutations were identified, showing the molecular heterogeneity of SASD in the French population. We found that the previously described p.Y306X mutation generated two different transcripts, and we identified seven novel mutations: three deletions (del exon 7, del exons10+11 and c.1296delT), one splice site mutation (c.1350+1G-->T) one nonsense mutation (p.W339X), and two missense mutations (p.R57C and p.G127E). CONCLUSIONS: The severity of our patients' genotypes is in agreement with their phenotypes but not with the importance and early appearance of the very frequent in utero manifestations. Minimal fetal disease in some patients and a reported case of heterogeneity of fetal involvement within a family suggest that factors other than the genotype influence fetal manifestations.

Female↗
PubMed2005

[MURCS association: a challenging diagnosis].

MURCS association includes Mullerrian duct aplasia-hypoplasia (MU), renal malformations (R) and cervicothoracic somite dysplasia (CS). This rare disease (1/50 000 females) is sporadic and of unknown aetiology. The reported case is the first one with additional esophageal atresia and ovarian mature teratoma. Esophageal atresia first led to the diagnosis of VACTERL association, which is more frequent and well known, showing that the identification of such malformative association may be challenging. The presence of mullerrian abnormality has allowed the diagnosis of MURCS association, as there is no mullerrian hypoplasia in VACTERL association. Therefore the association of isolated or combined renal and cervical malformation with VACTERL features should lead to the search for mullerrian abnormalities.

Abnormalities, Multiple↗
PubMed2005

[Development of the human adrenal glands].

The human adrenal is an endocrine gland located at the superior part of the kidney. Composed of the adrenal cortex of mesoblastic origin and the adrenal medulla of neuroectoblastic origin, the human fetal adrenal grows considerably during the first three months of development. From 12 to 18 weeks of development (WD), the weight of the adrenals increases seven-fold. The gland's weight doubles from 18 to 28 WD and from 28 to 36 WD. At birth, the two adrenals weigh on average 10 g. At the 8th week, two zones are individualized in the adrenal cortex: the definitive zone and the fetal inner zone. At the second trimester, according to ultrastructural and biochemical studies, a third zone, called the transition zone, is individualized between the definitive zone and the fetal inner zone. The definitive zone persists, but the origin of the three zones (glomerular, fascicular and reticular) of adult adrenal cortex is not known. The fetal inner zone regresses from the 5th month of gestation and disappears totally one year after birth. At the 8th week, the immature neuroblasts migrate to the definitive zone, then to the fetal inner zone to compose the adrenal medulla, which develops essentially after birth and during the first year. Before the 10th week, the human fetal adrenal is able to produce steroid hormones, in particular dehydroepiandrosterone sulfate (DHEA-S); the secretion of cortisol remains discussed. The development of the human fetal adrenal is complex and is under the control of hormones (ACTH, LH and betaHCG), growth factors (ACTH essentially) and transcription factors (essentially SF1 and DAX-1). Knowledge of morphological and molecular phenomena of this development permits to understand the pathophisiology of congenital adrenal deficiencies.

Adrenal Cortex↗
PubMed2005

[Histological and molecular study of fetal human adrenal cortex (12-36 wk)].

Histological and functional characteristics of the fetal human adrenals was studied in 119 normal fetuses aged 12 to 36 weeks development (WD). Immunocytochemical detection of steroidogenesis enzyme (3beta-HSD and P450 c21) and evaluation of cell proliferation using two nuclear markers (Ki-67 and PCNA) were performed in 70 of them. The human fetal adrenal cortex is composed of two morphologically distinct zones: the definitive peripheral zone and the fetal inner zone. From the 12th WD, we observed expression of an adherence protein (NCAM) and two steroidogenesis enzymes (3beta-HSD and P450 c21) in the definitive zone cells, attesting to the capacity of these cells to synthesize mineralocorticoids and/or cortisol. In the fetal zone, only P450 c21 immunoreactivity was detected. From the 14th WD, a transitional zone between the definitive zone and the fetal zone was identified by immunocytochemistry, with expression of 3b-HSD from the 21st WD. Only cells of the definitive zone proliferated from the 12th to 25th WD. The indexes of proliferation of PCNA and Ki-67, 40% and 25% respectively, decreased gradually and were lower than 1% at the 25th WD.

3-Hydroxysteroid Dehydrogenases↗
PubMed2005

[Conjunctival tumors in children. A histopathologic study of 42 cases].

PURPOSE: The aim of this study was to describe the clinicopathological characteristics of 42 conjunctival tumors surgically removed in children. PATIENTS AND METHODS: Records of all conjunctival tumors surgically removed in children during the 11-year period 1990-2001 were collected from the records of the Department of Ophthalmology, Edouard Herriot Hospital, Lyon. In all cases, the tumor was resected with no additional treatment. Sections of all cases were reviewed by the same pathologist. RESULTS: A total of 42 cases (40 patients) were included in the study. The mean age of the subjects at the time of surgical excision was 10 years, with a range of 1-17 years; 45% were male. The most frequent indication for tumor removal was suspected growth. The clinical diagnosis was accurate in 91% of cases. The tumor was localized at the limbus in 57% of cases. Most tumors were pigmented nevi, accounting for 83% of the lesions. The histopathological diagnoses in decreasing order of frequency were: nevi (35), angioma (2), dermolipoma (2), dermoid (1), papilloma (1), and squamous cell carcinoma (1). In one case, the histological study revealed squamous cell carcinoma in a child suffering from xeroderma pigmentosum. CONCLUSIONS: This retrospective study suggests that malignancy of pigmented conjunctival lesions is extremely rare in children. Although squamous cell carcinoma is rare in children, surgical excision and histological study are necessary when a conjunctival lesion is associated with xeroderma pigmentosum or immunodeficiency.

Adolescent↗
PubMed2003

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↗
PubMed2003

[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↗
PubMed2003

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↗
PubMed2003

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↗
PubMed2002

[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↗
PubMed2002

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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

[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↗
PubMed2001

[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↗