Identification of the putative ancestral allele of bovine single-nucleotide polymorphisms.

Identifying the action of natural selection from patterns of standing genetic variation has long been of interest to the population genetic community. Thanks to the availability of large single-nucleotide polymorphism (SNP) data sets for many species and of high-throughput SNP genotyping methods, whole-genomic surveys to detect selective sweeps are now possible. Knowing the ancestral allele increases the power to detect selection. We present here a comparative genomic approach to determine the putative ancestral allele of bovine SNPs deposited in public databases. We analysed 19,551,488 SNPs and identified the putative ancestral allele for 14,339,107 SNPs. Our predicted ancestral alleles were in agreement with ancestral alleles detected by genotyping outgroup species for 97% SNPs from the BovineSNP50 BeadChip. This comparison indicates that our comparative genomic-based approach to identify putative ancestral alleles is reliable.

Mycophenolate mofetil in renal transplant recipients with cyclosporine-associated nephrotoxicity: a preliminary report.

BACKGROUND: There is a great concern over cyclosporine (CsA) nephrotoxicity in renal transplant recipients, and the effects of conversion from CsA to azathioprine (AZA) remain controversial. Large studies have demonstrated that mycophenolate mofetil (MMF), the morpholinoethyl ester of mycophenolic acid, is superior to AZA as a posttransplant immunosuppressant. METHODS: Six patients with isolated biopsy-proven CsA nephrotoxicity were converted from CsA-AZA to MMF. RESULTS: Mean follow-up was 12+/-2 months. No patient experienced acute rejection. The mean serum creatinine concentration decreased from 225+/-58 to 159+/-66 micromol/L (P<0.0005). Hyperlipidemia and blood pressure improved after CsA withdrawal. CONCLUSION: In a selected transplant population with biopsy-proven CsA nephrotoxicity, CsA withdrawal with a concomitant switch from AZA to MMF seems to be safe and allows a significant improvement of renal function.

Fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French family.

A French family with hereditary renal amyloidosis (HRA) was studied. The disease presented in 7 of the 8 affected individuals with proteinuria or the nephrotic syndrome. The age of onset was in the fifth decade of life. There is currently no sign of extrarenal involvement in any affected individual. However, the nephropathy in this family is progressive and led to terminal renal failure in 4 patients. Immunohistochemistry studies of glomerular amyloid deposits suggested that the amyloid protein was the fibrinogen A alpha chain. Direct DNA sequencing revealed a G 4993 T transversion and subsequently Arg 554 Leu mutation in the fibrinogen A alpha chain. This is the first description of this fibrinogen A alpha chain mutation in Europe. This family is of French descent and cannot be related to the previously reported Peruvian/Mexican and African-American kindreds.

Influence of cigarette smoking on P53 gene mutations in bladder carcinomas.

BACKGROUND: The aim of this study was to analyse the influence of cigarette smoking on bladder carcinomas. PATIENTS AND METHODS: 98 cases of bladder cancers were examined by single strand conformation polymorphism analysis of exons 5 to 9, followed by DNA direct sequencing. RESULTS: The incidence of p53 gene mutations was not significantly influenced by habitual smoking. However, the p53 mutation spectrum of current smokers differed significantly from the pattern for non-smokers and ex-smokers. Differences between the two populations included multiple mutations in the current-smokers and an absence in non- and ex-smokers (p<0.01), with the predominance of G:C to A:T transitions at CpG sites in non-smokers (60.0%) in comparison with current smokers (7.6%) (p<0.02). Moreover, G:C to T:A and G:C to C:G transversions were found solely in current smokers. CONCLUSION: It would appear that, in current-smokers, the spectrum of p53 gene mutations is related to tobacco-smoke carcinogens and that the habit of smoking increases the extent of DNA damage.

Glomerular lesions in juvenile cystinosis: report of 2 cases.

We report glomerular lesions in 2 siblings presenting a juvenile cystinosis. Kidney biopsy in one of them showed focal, segmental, mesangial proliferative and hyalinosis lesions, and the second showed segmental juxtahilar hyalinosis in one third of glomeruli. Neither of the 2 patients displayed a Toni-Debre-Fanconi syndrome. In one of the patients, cystine crystals were found by means of electronic microscopy. The first patient developed chronic renal failure and a kidney transplantation was performed. No recurrence of the cystine deposits was observed in the graft. Pedigree of the described family seems to be in accordance with an autosomal dominant pattern of inheritance.

[Protocol for the pathologic examination of cystectomy and cystoprostatectomy specimens. Proposal for a standardized form]. / Protocole d'étude anatomopathologique des pièces de cystectomie et de cystoprostatectomie.

We present practice guidelines for the examination of bladder specimens removed for bladder cancer and propose an example of standardized form for their reporting. This approach takes place in looking for better quality and facilitates use of the morphologic data.

Metanephric adenoma of the kidney. A clinicopathologic, immunohistochemical and electron microscopic study of two cases. / L'adénome métanéphrique du rein. Une étude anatomoclinique, immunohistochimique et ultrastructurale de deux cas.

We report two cases of metanephric adenoma in 40 and 48 year-old women. These rare kidney tumors were composed of cuboidal epithelial cells forming tubules, glomeruloid structures and sheets. Ultrastructural and immunohistochemical studies revealed that the tumor cells are similar to epithelial cells of developing nephrons. These features differentiate the metanephric adenoma from tubulo-papillary renal carcinoma, nephroblastoma, and cortical adenoma. According to its invariably benign course, the metanephric adenoma treatment could be restricted to a simple tumorectomy.

[Erdheim-Chester disease. Apropos of a case with autopsy findings]. / La maladie d'Erdheim-Chester. A propos d'un cas avec étude autopsique.

Erdheim-Chester's Disease is a very uncommon variety of non-Langerhans histiocytosis of unknown etiology, which characteristically affects long bones bilaterally and symmetrically in adults. It may be accompanied by visceral foci of variable localization and extension determining prognosis. Bone scintigraphy is characteristic enough to evoke the disease but histologic examination of a peripheral specimen is required to confirm the diagnosis: spumous histiocytes CD68+, PS100+/-, CD1a-. We describe a case revealed by a severe lung disease with detailed autopsy.

[Hand-Schüller-Christian disease with tumor localization in the posterior fossa]. / Maladie de Hand-Schüller-Christian avec localisation tumorale dans la fosse postérieure.

A 19-year-old girl had been suffering since the age of 4 from Hand-Schüller-Christian disease. The condition was diagnosed by biopsy of a cranial bone lacuna. Later on, she developed diabetes insipidus and bilateral exophthalmos, both being typical signs of Hand-Schüller-Christian disease. At the age of 14, an intracranial tumour in the posterior cerebral fossa was discovered by computerized tomography, but in view of her parent's refusal of surgery, she was operated upon only 4 years later for obstructive hydrocephalus with intracranial hypertension. Two years after this operation, she presented with neurological signs of compression of the medulla oblongata, including tetraparesis and respiratory disorders, and the tumour was resected. Following a brief improvement she died of major hydroelectrolytic disorders due to her irreducible unstable diabetes insipidus. A review of the literature on Hand-Schüller-Christian disease and its rare association with intracranial tumours is analysed. The occurrence of such tumours raise important therapeutic problems and make the prognosis considerably worse.

[Laryngeal leishmaniasis in a patient from the Jura. Unusual cause of epitheloid and giant cell granulomatosis]. / Leishmaniose laryngée chez un Jurassien. Cause insolite de granulomatose épithélioïde et giganto-cellulaire.

A case of laryngeal leishmaniasis in a patient living in eastern France is reported. Mucosal leishmaniasis appears to be frequent in the New World but rare in the Old World, where only 9 cases have been published, including 3 from France. In this particular patient, there probably was some relationship between the laryngeal lesion and an unexplained malaria-like fever contracted in Algeria 19 years before. This case provides evidence that leishmaniasis is one single nosological entity throughout the world, its different clinical forms (cutaneous, mucosal, visceral) merely reflecting the adaptation of the parasite to its environment.

[Epididymal cysts in adolescents]. / Les kystes de l'épididyme chez l'adolescent.

Epididymal tumours are uncommon in children and adolescents and are usually benign. Epididymal cyst is exceptionally reported in the literature, although it is certainly underdiagnosed. The authors report 3 cases of epididymal cyst in 3 children, 12, 14 and 16 years of age. These children presented with an uncomfortable scrotal mass and were treated by excision of the cyst in every case. The aetiology of epididymal cysts is unclear. It is probably a congenital abnormality related to hormonal disorders during embryonic life. Physical examination is very important, but not sufficient for the diagnosis and must be completed by scrotal ultrasonography, which shows an echo-free cystic epididymal structure. Despite ultrasonography, the differential diagnosis of other scrotal cystic masses and even some solid epididymal tumours, which may present all of the sonographic characteristics of a cyst, must be considered. The treatment of symptomatic epididymal cyst in children must be surgical. For asymptomatic cysts diagnosed by sonography, clinical follow-up to document stability of the mass is justified.

[Unusual variety of bladder urothelial carcinoma: "nest type" microlobular carcinoma: report of an anatomoclinical case and review of the literature]. / Une variété rare de carcinome urothélial de la vessie: le carcinome microlobulaire "à type de nids": à propos d'un cas anatomo-clinique avec revue de la littérature.

We report a case of nested cell carcinoma, an uncommon transitional tumor. These tumors are composed of regular cuboidal transitional cells forming small nests with minimal cytologic atypia. Despite the benign course, this tumor resembling proliferation of Brunn's nests or inverted papilloma, must be considered as an aggressive transitional tumor. Thus, morphologic criteria are needed to make the diagnosis. Because of its aggressive behaviour, the surgical therapy depends on the tumor's infiltration.

[Uretero-vesical implantation after failure of endoscopic treatment of reflux: anatomical and histological study of 61 resection specimens from 40 children]. / Réimplantation urétéro-vésicale après échec du traitement endoscopique d'un reflux: étude anatomique et histologique de 61 pièces de résection chez 40 enfants.

OBJECTIVE: To evaluate the anatomy and histology of the ureterovesical junction resected during secondary surgical reimplantation for persistent reflux after failure of initial endoscopic treatment by polytetrafluoroethylene (Teflon) in 27 cases and polydimethylsiloxane (Macroplastique) in 13 cases. MATERIAL AND METHOD: 61 ureterovesical junctions from 40 children were studied histologically. The mean age of the patients at the time of the operation was 4.1 years (range: 1 to 15 years). The mean interval between endoscopic injection and surgical reimplantation was 15.3 months (range: 2 to 54 months). RESULTS: Persistent reflux was not correlated with the anatomical situation of the implant, which was found to be in a satisfactory position in 52.4% of cases. Both of the substances used induced a giant-cell macrophage reaction which colonized the implant and triggered new vessel formation. Macroplastique appeared to be associated with a more intense inflammatory reaction than Teflon. Despite the difference in particle size, the two substances induced a macrophage phenomenon characterized by microfragmentation into 6 micron particles. No conclusions can be drawn concerning distant migration, but this study showed rarefaction of particles which were replaced by fibrosis, the density of which was correlated with the age of the implant. CONCLUSION: Extinction of the local reaction induced by the products used in this study appears to be long and the end of this process is unknown, which justifies prolonged surveillance of children treated for reflux by endoscopic submeatal injection.

[Experimental study of nephrotoxicity: effects, on the newborn rat kidney, of aminoglycoside administration during gestation]. / Etude expérimentale d'une néphrotoxicité: effets, sur le rein du rat nouveau-né, de l'administration d'aminoglycosides durant la gestation.

Treatment of the pregnant rat with aminoglycosides provokes nephrotoxicity in the newborn. This study compares the effects of three antibiotics belonging to this group: gentamicin (same day dose administered in one or two injections according to the groups), sisomicin and dibekacin, all administered during the last phase of gestation. Newborns were tested the day after birth, creatinine clearance was measured and then the kidneys were removed for histopathological examination. Functional variations (diuresis, creatinine clearance) and histological alterations of glomerula and tubules were observed. Slight differences suggest that, depending on the antibiotic used, intra-cellular nephrotoxic mechanisms are not completely identical. The modifications which occur after the administration of aminoglycosides, lead us to believe that further studies on the possible fetal nephrotoxic effects of drugs taken by mothers during gestation should be undertaken.

[Glomus tumor of the sciatic nerve]. / Tumeur glomique du nerf sciatique.

Nervous glomus tumor is an exceptional lesion, as only one case has been reported in the literature. A case of sciatic nerve glomus tumor is described. Because of the intra-neural location of the tumor with complete loss of the fascicular structures, the tibial nerve was resected and grafted. Light microscopy clearly demonstrated a glomus tumor; the histological features of these cells are typical of this lesion.