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1.
Genet Mol Res ; 14(4): 12386-93, 2015 Oct 16.
Article de Anglais | MEDLINE | ID: mdl-26505388

RÉSUMÉ

Intervertebral disc degeneration is the main cause of lumbago disease, in which the extracellular matrix structure and moisture in the nucleus pulposus is lost continuously. In this study, we aimed to detect differential expression of silence mating type information regulation 2 homolog 1 (SIRT1) and matrix metalloproteinase-1 (MMP-1) in human intervertebral disc nucleus pulposus cells and to explore the effects of SIRT1 and MMP-1 on the development of the intervertebral disc degeneration. Intervertebral disc nucleus pulposus specimens from 41 patients who underwent lumbar protrusion resection at HuiZhou Municipal Central Hospital, during the period from October 2011 to December 2013, were studied in comparison with 23 control cases from patients who underwent fractured lumbar resection. In degenerated human intervertebral disc nucleus pulposus cells, the expression of SIRT1 is decreased and MMP-1 is increased compared with that of the control cells. Resveratrol could reverse these effects, thereby increasing the expression of SIRT1 (0.87 ± 0.07 vs 0.54 ± 0.04), Coll2α1 (0.90 ± 0.08 vs 0.38 ± 0.01), and aggrecan (0.69 ± 0.07 vs 0.42 ± 0.05) and decreasing the expression of MMP-1 (0.61 ± 0.03 vs 0.93 ± 0.08). These results suggest that resveratrol could possibly reverse the process of intervertebral disc degeneration and thus could be applied as a potential drug for the disease.


Sujet(s)
Régulation de l'expression des gènes/effets des médicaments et des substances chimiques , Matrix metalloproteinase 1/génétique , Sirtuine-1/génétique , Stilbènes/pharmacologie , Adulte , Sujet âgé , Agrécanes/métabolisme , Cellules cultivées , Collagène de type II/métabolisme , Femelle , Humains , Immunohistochimie , Techniques in vitro , Mâle , Matrix metalloproteinase 1/métabolisme , Adulte d'âge moyen , Réaction de polymérisation en chaîne , Resvératrol , Sirtuine-1/métabolisme , Jeune adulte
2.
Hum Reprod ; 26(12): 3450-5, 2011 Dec.
Article de Anglais | MEDLINE | ID: mdl-21930534

RÉSUMÉ

BACKGROUND: The aim of this study was to investigate the frequency of gonadal tumors among patients with Turner syndrome (TS) carrying Y-derivative sequences in their chromosomal constitution. METHODS: Six out of 260 patients with TS were selected based on mosaicism of the entire Y chromosome; 10 were included because Y-derivative sequences have been detected by PCR with specific oligonucleotides (sex-determining region on the Y, testis specific-protein, Y and DYZ3) and further confirmed by FISH. The 16 patients were subjected to bilateral gonadectomy at ages varying from 8.7 to 18.2 years. Both histopathological investigation with hematoxylin and eosin (H&E) and immunohistochemical analysis with anti-octamer-binding transcription factor 4 (OCT4) antibody were performed. RESULTS: Gonadal neoplasia was not detected in any of the 32 gonads evaluated by H&E; however, four gonads (12%) from three patients (19%) had positive OCT4 staining in 50-80% of nuclei, suggesting the existence of germ cell tumors (gonadoblastoma or in situ carcinoma). CONCLUSIONS: Evaluation of the real risk of development of gonadal tumors in TS patients with Y-derivative sequences in their chromosomal constitution may require a specific histopathological study, such as immunohistochemistry with OCT4.


Sujet(s)
Épithélioma in situ/génétique , Chromosomes Y humains/composition chimique , Gonadoblastome/génétique , Facteur de transcription Oct-3/métabolisme , Syndrome de Turner/génétique , Adolescent , Épithélioma in situ/complications , Épithélioma in situ/anatomopathologie , Enfant , Chromosomes Y humains/génétique , Femelle , Gonadoblastome/complications , Gonadoblastome/anatomopathologie , Humains , Immunohistochimie , Appréciation des risques , Syndrome de Turner/complications , Syndrome de Turner/anatomopathologie
3.
J Endocrinol Invest ; 33(10): 691-5, 2010 Nov.
Article de Anglais | MEDLINE | ID: mdl-20354352

RÉSUMÉ

BACKGROUND: The majority of anthropometric assessments in Turner syndrome (TS) patients has focused on height. AIM: To analyze body proportions in young adult TS patients either treated or not treated with rhGH, and to compare them with a group of age-matched healthy women. SUBJECTS AND METHODS: Standing height, sitting height, weight, foot and leg lengths, arm span, head circumference, biliac and biacromial diameters were measured in 52 non-treated TS patients, 30 treated with rhGH and 133 healthy women. RESULTS: Age at the start of rhGH therapy varied from 7.8 to 15.1 yr (10.0±1.3 yr), the duration of treatment from 2.8 to 8.2 yr (3.7±1.5 yr) and the mean recombinant human GH (rhGH) dose was 0.42 mg/kg/week (from 0.32 to 0.50 mg/kg/week). Nontreated patients did not show any difference in anthropometric variables when compared with the treated ones, except for hand length (p=0.02) and height (p=0.05), which were increased in the treated group. All anthropometric variables, except head circumference, were different when comparing TS patients (either treated or not) with age-matched healthy women. CONCLUSION: Brazilian TS patients either treated or not with rhGH showed almost no differences in terms of their body proportions. This result is probably due to the late age at the start of treatment, and/or the short period of rhGH administration. Hand length was different between the groups, showing the importance of including the extremities in body proportion assessment during rhGH treatment of TS patients.


Sujet(s)
Mensurations corporelles/effets des médicaments et des substances chimiques , Hormone de croissance humaine/pharmacologie , Hormone de croissance humaine/usage thérapeutique , Syndrome de Turner/traitement médicamenteux , Syndrome de Turner/physiopathologie , Adolescent , Adulte , Taille/effets des médicaments et des substances chimiques , Poids et mesures du corps , Études cas-témoins , Enfant , Femelle , Études de suivi , Tête/anatomie et histologie , Santé , Humains , Jeune adulte
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