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Biomedical subjects

A Fabre

Publications and source records attributed to A Fabre.

At least 19 recordsLinked to original sources

An oligonucleotide microarray for mouse imprinted genes profiling.

Genomic imprinting is an epigenetic phenomenon unique to mammals that causes some genes to be expressed according to their parental origin. It results in developmental asymmetry in the function of the parental genomes. We describe here a method for the profiling of imprinted genes based on the development of a mouse imprinting microchip containing oligonucleotides corresponding to 493 genes, including most of the known imprinted genes (IG = 63), genes involved in epigenetic processes (EPI = 15), in metabolism (= 147), in obesity (= 10) and in neurotransmission (= 256) and housekeeping reference genes (= 2). This custom oligonucleotide microarray has been constructed to make data analysis and handling more manageable than pangenomic microarrays. As a proof of concept we present the differential expression of these 493 genes in different tissues (liver, placenta, embryo) of C57BL6/J mice fed different diets. Appropriate experimental strategies and statistical tools were defined at each step of the data analysis process with regard to the different sources of constraints. Data were confirmed by expression analyses based on quantitative real-time PCR. These oligochips should make it possible to increase our understanding of the involvement of imprinted genes in the timing of expression programs, tissue by tissue, stage by stage, in response to nutrients, lifestyles and other as yet unknown critical environmental factors in a variety of physiopathological situations, and in animals of different strains, ages and sexes. The use of oligonucleotides makes it possible to expand this microchip to include the increasing number of imprinted genes discovered.

Animals↗

Sudden adult death syndrome and other non-ischaemic causes of sudden cardiac death.

OBJECTIVE: To evaluate non-atherosclerotic cardiac deaths in the UK population aged over 15 years including elderly patients and to highlight the concept of the structurally normal heart in sudden death. METHODS: Pathological data were collected prospectively for sudden adult deaths referred by UK coroners. RESULTS: 453 cases of sudden death from 1994 to 2003 (278 men (61.4%) and 175 women (38.6%), age range 15-81 years) were reviewed. Males predominated in both age groups (< or = 35 years, > 35 years). More than half of the hearts (n = 269, 59.3%) were structurally normal. In the other 40.7%, cardiac abnormalities were noted, which included: (1) cardiomyopathies (23%) such as idiopathic fibrosis, left ventricular hypertrophy, hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic right ventricular dysplasia; (2) inflammatory disorders (8.6%) including lymphocytic myocarditis and cardiac sarcoidosis; (3) non-atheromatous abnormalities of coronary arteries (4.6%); (4) valve diseases; and (5) miscellaneous and rare causes. CONCLUSION: The concept of the structurally normal heart in sudden death and the need for histological examination to detect underlying disease is highlighted. Relatives need to be referred for cardiological and genetic screening in cases of normal hearts found at necropsy.

Adolescent↗

[Not Available].

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Journal Article↗

[Not Available].

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Journal Article↗

[Giant diverticulum of the sigmoid colon with jejunal fistula].

An 80-year-old woman with sigmoïd diverticula was treated by corticosteroid for Horton disease. She presented abdominal pain, and abdominal mass in left iliac fossa. Radiological examinations revealed a colo-jejunal fistula. At laparotomy it was a giant diverticulum of colon sigmoid with fistula in the jejunum. The pathogeny of giant diverticulum and the role of corticosteroid are discussed.

Aged↗

[A case of right liver atrophy].

The authors report a case of right liver atrophy. This rare anomaly was suspected during post-operative period on abnormalities of cholangiogram. This biliary tract anomaly was diagnosed by CT scan. This congenital abnormality may be associated with biliary tract abnormalities, portal hypertension and other congenital abnormalities.

Aged↗

Measurement and determinants of the natural history of liver fibrosis in hepatitis C virus infection: a cross sectional and longitudinal study.

INTRODUCTION: The rate of development of liver fibrosis in hepatitis C virus (HCV) infection varies between individuals. This accounts for the variation in duration of progression to cirrhosis. The aims of this study were: (1) to determine whether fibrosis progresses linearly through the grading scales and (2) to identify factors which influence the rate of fibrosis. METHODS: HCV infected patients who had undergone at least one liver biopsy were identified. Biopsies were scored using the modified HAI (Ishak) and METAVIR systems, which were compared. Patients were treatment naïve at first biopsy. Demographic features were examined for their relationship to fibrosis rate (defined as fibrosis stage/infection duration) using univariate and multivariate analysis. A subgroup of patients with two biopsies was examined to test the assumption that fibrosis progresses in a linear fashion. RESULTS: A total of 917 patients were included. Male sex (p<0.00001), older age at infection (p</=0.00001), and viral genotype non-1 (p=0.005) were all associated with a rapid rate of fibrosis. On multiple linear regression they accounted for 29.5% of the variability in fibrosis rate (r(2)=0.295). METAVIR and Ishak scores were highly correlated (r=0.935, p<0.0001). In 137 patients who had two biopsies, the predicted probability for an increase of 1 on the fibrosis score was too low to assess linearity. CONCLUSIONS: Demographic features account for a minority of fibrosis rate variability. The Ishak and METAVIR scoring systems are equivalent. Linearity of fibrosis progression cannot be assessed in biopsies only a few years apart.

Adult↗

Influence of insecticide treatments on ant-hemiptera associations in tropical plantations.

In this survey conducted in southern Cameroon, we compared ant-Hemiptera associations on plantations treated with insecticides, on plantations 2 years after insecticide treatments ceased, and on control lots that never received insecticide treatments. By eliminating arboreal-nesting ants, insecticides favored the presence of "ecologically dominant" ground-nesting, arboreal-foraging species that occupied the tree crowns. The reinstallation of arboreal ants was slow as 2 yr after insecticide treatment ceased differences with the control lots were significant. This intermediary period also illustrated that arboreal ants can found and develop colonies on trees occupied by ground-nesting species. Certain arboreal species were more frequent during this intermediary period than on the control lots, showing that the period of installation in the trees was followed by competition between arboreal ants. We confirm that ground-nesting ants tend a wide range of hemipteran families, including well known agricultural pests, whereas arboreal ants, particularly dominant species, were mostly associated with Coccidae and Stictococcidae that do not pose problems to the supporting trees. A tree effect was also noted for both ant and hemipteran distribution. We concluded that because of insecticide use, ground-nesting ants pose problems through their associated Hemiptera. On the contrary, dominant arboreal ants, strong predators, benefit their supporting trees by excluding ground-nesting species and tending mostly nonpest Hemiptera. Nevertheless, certain of them, carpenter species or species likely to tend Pseudococcidae, have to be eliminated through integrated management.

Animals↗

Intraductal acinar cell carcinoma of the pancreas.

We describe a purely intraductal acinar cell carcinoma involving branch ducts of the pancreas in a 74-year-old man, which presented as recurrent episodes of acute pancreatitis. Endoscopic ultrasound examination revealed an intraductal mass bulging into the main pancreatic duct suggesting, pre-operatively, an intraductal mucinous papillary tumour. Gross examination showed several dilated branch ducts that contained haemorrhagic tumour material without any solid or true cystic formation within the pancreatic parenchyma. Using histology, a purely intraductal acinar cell carcinoma was observed, involving branch ducts only, associated with foci of carcinoma in situ in adjacent exocrine parenchyma. The main pancreatic duct was free of disease except for its communication with a cancerous branch duct. A concomitant neuroendocrine microadenoma was incidentally found during slide screening. Immunohistochemistry performed on the intraductal proliferation confirmed zymogen secretion with positive staining for alpha-1 anti-chymotrypsin and anti-trypsin and the persistence of diastase-periodic acid-Schiff positive granules in the apical pole of the tumour cells. Neuroendocrine markers were negative in the acinar cell carcinoma and positive in the neuroendocrine microadenoma. To our knowledge, this is the first report of an intraductal acinar cell carcinoma of the pancreas involving branch ducts and sparing the main pancreatic duct.

Aged↗

Krukenberg tumor: a clinico-pathological study of 15 cases.

Krukenberg tumor clinically mimics primary ovarian cancer. We report a series of 15 cases of Krukenberg tumor. The patients' age range from 13 to 71 years. Most ovarian tumors (14/15) were bilateral. A primary digestive tumor was diagnosed pre-operatively in 3 cases, per-operatively in 3 cases and post-operatively in 4 cases. No primary tumor was identified in the 5 other cases. Histological diagnosis of Krukenberg tumor is usually easy either on paraffin or frozen sections. Mucin stains are helpful. Two main histological types were found in our series : the classic form with sarcoma-like storiform tumoral stroma and an alternative cellular-acellular pattern. Mucinous carcinoid was microscopically challenged in two cases. Most patients died within 2 years (median survival 14 months). Nor surgery, neither chemotherapy is efficient but bilateral oophorectomy should be proposed in post-menopausal women with gastric linitis removed surgically.

Adolescent↗

[Disseminated mucormycosis in AIDS].

Mucormycosis is a rare often fatal opportunistic condition. It mainly occurs in immunocompromised subjects but rarely in AIDS patients. An eighteen-year-old HIV+ man from Zaire died rapidly from disseminated mucormycosis with pulmonary, cardiac, renal, hepatic, splenic and gastric involvement. Fungi were observed in all these organs with a particular vascular trophism. Rhizopus orizae was identified on cultures. Rapid microscopic diagnosis, in the localized stage, could improve the poor prognosis of this infection.

AIDS-Related Opportunistic Infections↗

Loss of heterozygosity of the Wilms' tumor suppressor gene (WT1) in in situ and invasive breast carcinoma.

The Wilms' tumor suppressor gene (WT1), a nuclear transcription factor, regulates the expression of the insulin-like growth factor (IGF) and transforming growth factor (TGF) systems, both of which are implicated in breast tumorigenesis. WT1 allelic integrity was examined by loss of heterozygosity (LOH) studies in formalin-fixed, paraffin-embedded (FFPE) ductal carcinoma in situ (DCIS, n = 20) and fresh frozen primary invasive breast carcinomas (n = 24). Loss of heterozygosity (LOH) at the WT1 locus (11p13) was examined by PCR evaluation of an Hinf1 restriction fragment length polymorphism (RFLP) and correlated to tumor stage (in situ and invasive). After identification of the heterozygous/informative breast lesions, 1 of 12 (8.3%) DCIS (high-grade micropapillary) and 3 of 14 (21.4%) of infiltrating carcinomas (high grade) showed loss of one allele, suggesting that LOH of the WT1 locus is a rare genetic event in early breast cancer, becoming more common in invasive and in high-grade lesions.

Breast Neoplasms↗

[Flaps of the gastrocnemius muscles].

The authors expose different techniques and maneuvers used for dissection of gastrocnemius flaps with reference to the data reported in the literature and to the anatomical vascular basis. The use of muscular and myocutaneous gastrocnemius flaps and some modifications of the standard surgical technique aiming to gain more versatility are described, so that, the range of these flaps can be planned to cover the greatest part of the lower extremity of the leg.

Humans↗

[The styloid bone and carpal protuberance].

Dorsal carpal protuberance of the wrist is frequently caused by the presence of a styloideum bone. We report a case illustrating this pathophysiological hypothesis. This pathology is often confused with synovial cyst emphasizing the importance of a lateral view of the hand in 30 degrees supination. Computed tomography sections are also helpful showing the exact nature of the protuberance. A cuneiform resections of the joint line can leave to complete symptom relief.

Adult↗