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  • 1
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 523 (1988), S. 0 
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Chemical Physics Letters 191 (1992), S. 142-148 
    ISSN: 0009-2614
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0428
    Keywords: Keywords Obesity ; genetic ; body mass index ; neuropeptide Y ; neuropeptide Y receptors ; leptin.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Synthesis and release of neuropeptide Y (NPY) are both regulated by leptin binding to its hypothalamic receptor mediating some of the effects of leptin on food intake. Moreover, NPY administration is a powerful stimulant of feeding behaviour. Thus, we investigated the potential implication of NPY, NPY-Y1 and -Y5 subtype receptors [rNPY-Y1/-Y5] in the development of human obesity. Two complementary genetic approaches were used: 1) linkage analyses between obesity and polymorphic markers located nearby NPY and rNPY-Y1/-Y5 genes (respectively on chromosomes 7p15.1 and 4q[31.3–32]) in 93 French Caucasian morbidly obese families; 2) single strand conformation polymorphism (SSCP) scanning of the coding region of the NPY and rNPY-Y1 genes performed in 50 unrelated obese patients ascertained on the basis of a body mass index of 27 kg/m2 or more and a family history of obesity. No evidence of linkage between morbid obesity or obesity-related quantitative traits and NPY and rNPY-Y1/Y5 regions was found in this population. Moreover, SSCP scanning revealed no mutation in the coding region of NPY and rNPY-Y1 genes among obese subjects. These results suggest that NPY and NPY-Y1/Y5 receptors are unlikely to be implicated in the development of human morbid obesity, at least in the French Caucasian population. [Diabetologia (1997) 40: 671–675]
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-0428
    Keywords: Keywords Type II (non-insulin-dependent) diabetes mellitus ; gene ; inwardly rectifier potassium channel ; mutation.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The K+ inwardly rectifier channel (KIR) is one of the two sub-units of the pancreatic islet ATP-sensitive potassium channel complex (IKATP), which has a key role in glucose-stimulated insulin secretion and thus is a potential candidate for a genetic defect in Type II (non-insulin-dependent) diabetes mellitus. We did a molecular screening of the KIR6.2 gene by single strand conformational polymorphism (SSCP) and direct sequencing in 72 French Caucasian Type II diabetic families. We identified three nucleotide substitutions resulting in three amino acid changes (E23K, L270V and I337V), that have also been identified in other Caucasian Type II diabetic subjects. These variants were genotyped in French cohorts of 191 unrelated Type II diabetic probands and 119 normoglycaemic control subjects and association studies were done. The genotype frequencies of the L270V and I337V variants were not very different between Type II diabetic subjects and control groups. In contrast, analysis of the E23K variant showed that the KK homozygocity was more frequent in Type II diabetic than in control subjects (27 vs 14 %, p = 0.015). Analyses in a recessive model (KK vs EK/EE) tended to show a stronger association of the K allele with diabetes (p = 0.0097, corrected p-value for multiple testing 〈 0.02). The data for the E23K variant obtained here and those obtained from three other Caucasian groups studied so far were combined and investigated by meta-analysis. Overall, the E23K variant was found to be significantly associated with Type II diabetes (0.001 ≤p≤ 0.0016, corrected p-values for multiple testing p≤ 0.01). This study shows that KIR6.2 polymorphisms are frequently associated with Type II diabetes in French Caucasians. Furthermore, a meta-analysis combining different Caucasian groups suggests an significant role of KIR6.2 in the polygenic context of Type II diabetes. [Diabetologia (1998) 41: 1511–1515]
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-0428
    Keywords: KeywordsPOMC ; Proopiomelanocortin ; obesity ; leptin.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. The region 2p21–23, containing the proopiomelanocortin gene (POMC), was reported to be linked to leptin concentrations in Mexican-American, French and African-American cohorts. A polyhormone peptide, POMC is expressed in brain, gut, placenta and pancreas. The POMC mutations are responsible for rare cases of early-onset obesity. Thus we examined the contribution of the POMC locus to obesity in French families. Methods. Single and multipoint linkage studies were done between obesity, obesity associated-phenotypes (leptin values and z-score of the body mass index) and three newly mapped markers surrounding POMC in 264 affected sib-pairs from French obese families. Mutation screening of the exons and intron/exon junctions of the POMC gene was realised by direct sequencing. Association studies were done in 379 unrelated obese patients and 370 non-obese non-diabetic subjects. Results. Linkage analysis confirmed the trend towards linkage between polymorphic markers around POMC and variations of leptin concentrations and z-score (maximum lod score at D2S2337 = 2.03). Mutation screening of the POMC gene in the French Caucasian cohort identified two previously reported polymorphisms. None of these variants was associated with obesity, diabetes or serum leptin and lipid concentrations. Conclusion/interpretation. Our results indicate that mutations in the POMC gene do not contribute to the variance of obesity associated phenotypes, at least in French Caucasians. Given the replicated evidence of linkage between leptin values and the chromosome 2p21–23 region in different populations, it is likely that functional variant(s) in the POMC regulating sequences or in an unknown gene in this region explains this linkage. [Diabetologia (2000) 43: 1554–1557]
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-0428
    Keywords: Keywords Genetics ; MODY ; glucokinase gene ; HNF-1α ; HNF-4α ; HNF-1β ; IPF1 ; transcription factors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Maturity-onset diabetes of the young (MODY) is a heterogeneous subtype of non-insulin-dependent diabetes mellitus characterised by early onset, autosomal dominant inheritance and a primary defect in insulin secretion. To date five MODY genes have been identified: hepatocyte nuclear factor-4 alpha (HNF-4 α/MODY1/TCF14) on chromosome 20 q, glucokinase (GCK/MODY2) on chromosome 7 p, hepatocyte nuclear factor-1 alpha (HNF-1 α/MODY3/TCF1) on chromosome 12 q, insulin promoter factor-1 (IPF1/MODY4) on chromosome 13 q and hepatocyte nuclear factor-1 beta (HNF-1 β/MODY5/TCF2) on chromosome 17cen-q. We have screened the HNF-4 α, HNF-1 α and HNF-1 β genes in members of 18 MODY kindreds who tested negative for glucokinase mutations. Five missense (G31D, R159W, A161T, R200W, R271W), one substitution at the splice donor site of intron 5 (IVS5nt + 2T→A) and one deletion mutation (P379fsdelT) were found in the HNF-1 α gene, but no MODY-associated mutations were found in the HNF-4 α and HNF-1 β genes. Of 67 French MODY families that we have now studied, 42 (63 %) have mutations in the glucokinase gene, 14 (21 %) have mutations in the HNF-1 α gene, and 11 (16 %) have no mutations in the HNF-4 α, IPF1 and HNF-1 β genes. Eleven families do not have mutations in the five known MODY genes suggesting that there is at least one additionnal locus that can cause MODY. [Diabetologia (1998) 41: 1017–1023]
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    International orthopaedics 1 (1977), S. 87-94 
    ISSN: 1432-5195
    Keywords: Hip ; Prosthesis ; Arthroplasty
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Dans les arthroplasties totales de la hanche, l'auteur utilise depuis Avril 1970, des prothèses de sa conception, dont la cupule et la tête sont en alumine et la queue en métal. Près de 800 prothèses ont été placées, la plupart avec ciment, d'autres sans ciment. Depuis Avril 1971, il utilise des cotyles non cimentés et depuis 1975, des queues en titane non cimentées. La tolérance biologique de l'alumine est excellente. Les caractéristiques du titane en font un matériau de choix dans la fabrication des queues de prothèses. Mais la technique d'implantation sans ciment névessite un soin particulièrement rigoureux lors de la pose de ces prothèses et les résultats cliniques et radiologiques d'une série de 143 cas, avec un recul de 1 à 4 ans, sont exposés.
    Notes: Summary The author uses his own prosthesis for hip replacement arthroplasty. The hemispherical cup and the femoral head are made of Alumina (Aluminium oxide), which is well tolerated biologically and mechanically. Cement is not necessary. Since 1975 the femoral stem made of a Titanium alloy, has also been inserted in the femoral shaft without cement. The technical procedure requires great skill. Clinical and radiological results of 143 operated hips with a follow-up period between one and four years are reported.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Hoboken, NJ : Wiley-Blackwell
    Journal of Biomedical Materials Research 22 (1988), S. 1203-1232 
    ISSN: 0021-9304
    Keywords: Chemistry ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Medicine , Technology
    Notes: The purpose of this article was to review the laboratory and clinical performances since 1970 of a total hip prosthesis using alumina-alumina combination. The chemical and physical properties of dense alumina ceramic were studied in relation to biocompatibility, mechanical strength, and surface properties. Through the examination of 35 retrieved implants, it was found that the long-term success of alumina-alumina total hip replacement depends on both the ceramic microstructure (small grain size with uniform distribution, minimum porosity, absence of inclusions) and implant geometry (sphericity deviation ±1 μm, radius tolerance between components 7-10 μm). Alumina component wear and fractures have disappeared with the use of high-performance materials and severe manufacturing quality control. Examination of human biopsies from well-fixed prostheses showed that alumina particles deposits increase with time with only a low-grade macrophagic reaction. When loosening occurred, an inflammatory reaction appeared; this reaction was less striking than with loose metal-polyethylene prostheses, however. The long-term behavior of cementless alumina cup fixation depends upon initial positioning and stability; survivorship analysis of the cemented ceramic cups showed an 88% survival probability after 8 years with a 1.6% average annual probability of revision. The percentage of surviving was 100% after 8 years in patients who were less than 50 years old. Aseptic loosenings occurring at the cup-cement interface were assumed to be related to stress protection secondary to the high rigidity of the ceramic leading to a weakening of the spongious bone supporting the cement mantle. Good bone stock quality as well as high-quality ceramic appear to be the prerequisites for durable fixation of alumina sockets.
    Additional Material: 18 Ill.
    Type of Medium: Electronic Resource
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