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1.
Zhonghua Yi Xue Za Zhi ; 102(48): 3842-3848, 2022 Dec 27.
Artigo em Chinês | MEDLINE | ID: mdl-36540921

RESUMO

Objective: To investigate the role and significance of ultrasound-guided inferior parathyroid gland (IPTG) localization in searching and protecting parathyroid glands before thyroid surgery. Methods: A randomized controlled trial study was conducted. A total of 306 patients (433 cases of lateral parathyroidectomy) who underwent primary thyroidectomy and central lymph node dissection in Beijing Tongren Hosipital from March to October 2021 were enrolled. In order to locate IPTG more quickly and effectively, new IPTG classification and the definition of quadrant position were carried out. The patients were divided into the study group (n=228) and the control group (n=205). The study group underwent ultrasound-guided IPTG examination before operation and measured the distance between the IPTG and the lower pole of the thyroid and the midline of the trachea. During the operation, the IPTG was found and protected depending on the localization. The control group did not use any auxiliary preoperative positioning method. The distribution ratio of IPTG and the coincidence rate between intraoperative validation and ultrasound localization were calculated. Results: There were 306 patients enrolled in the final analysis (95 males and 211 females), with a median age of 41 years old (18-70). Type Ⅱ and Ⅲ IPTG accounted for 77.2% (176/228) of the total cases. The total coincidence rate ranged from 72.8% to 79.4% in different IPTG groups. Type Ⅲ and quadrant 2 IPTG had the highest coincidence rate [92.4% (73/79) and 92.9% (79/85), respectively]. The study group had better in situ retention rate [82.0% (187/228) vs 73.2% (150/205), χ2=4.896, P=0.027] and less implantation rate [8.8% (20/228) vs 16.1% (33/205), χ2=5.393, P=0.020] than those of the control group. The in situ retention rate were better in type Ⅲ IPTG group, compared with those of the control group [94.9% (74/78) vs 77.4% (48/62), χ2=7.898, P=0.005]. There was no permanent hypoparathyroidism in two groups and the temporary hypoparathyroidism rate was 32.0% (24/75) and 34.6% (18/52), respectively (χ2=0.095, P=0.758). Conclusion: Ultrasound-guided IPTG localization examination has important implications for searching and protecting IPTG during operation, which can significantly increase in situ retention rate of IPTG and decrease the implantation rate.


Assuntos
Hipoparatireoidismo , Neoplasias da Glândula Tireoide , Masculino , Feminino , Humanos , Adulto , Glândulas Paratireoides , Isopropiltiogalactosídeo , Estudos Retrospectivos , Tireoidectomia/efeitos adversos , Ultrassonografia de Intervenção/efeitos adversos
3.
Zhonghua Nei Ke Za Zhi ; 58(7): 508-513, 2019 Jul 01.
Artigo em Chinês | MEDLINE | ID: mdl-31269567

RESUMO

Objective: Proteus syndrome is a rare disease. The aim of the present study was to analyze the clinical characteristics and gene mutations of Proteus syndrome with a case report and relevant literature review. Methods: Clinical data of the patient with Proteus syndrome were collected in detail and biochemical measurements and radiological examinations were conducted. Tissues from phalanges with lesions were obtained to extract DNA, and Sanger sequencing of AKT1 gene was carried on. The pathogenic mutation was further tested in peripheral blood samples of the patient, his parents and 250 healthy volunteers. Orthopaedic surgery was performed on the affected limbs of the patient. Results: The patient was presented with progressive overgrowth of the right extremity, scoliosis, cerebral connective tissue nevus and lower extremity venous. A heterozygous mutation of AKT1 gene (c. 49G>A) was identified in DNA extracted from the affected bone tissue of the patient, but not be found in genomic DNA of peripheral blood samples from the patient, his parents and 250 healthy volunteers. Movement function of the affected limb improved significantly after the operations. Conclusions: The prominent features of Proteus syndrome are overgrowth of one extremity and cerebral connective tissue nevus. A mosaic somatic mutation of AKT1 gene is one of the pathogenic mutations for Proteus syndrome, and orthopedic surgery may be a good way to improve symptoms of the disease.


Assuntos
Nevo , Síndrome de Proteu/diagnóstico , Proteínas Proto-Oncogênicas c-akt/genética , Voluntários Saudáveis , Humanos , Mutação , Síndrome de Proteu/genética , Radiografia
4.
Pharmacogenomics J ; 19(5): 490-498, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-30287911

RESUMO

The aim of this study was to explore the allelic association between SOST polymorphisms and the variance of clinical effects of alendronate in postmenopausal Chinese women with osteoporosis or osteopenia. In the study, 500 postmenopausal women in Shanghai area with osteoporosis or osteopenia were included. All participants were treated with weekly oral alendronate 70 mg, daily calcium 600 mg and vitamin D 125 IU for 12 months. Nine tagging single-nucleotide polymorphisms (SNPs) in SOST gene were genotyped. Bone mineral density of lumbar spine (L1-L4), left femoral neck and total hip were measured at baseline and after 1 year of treatment, respectively. In the study, 450 subjects completed the 1-year follow-up. The rs865429 was significantly associated with the % change of BMD at the femoral neck (P = 0.007). GG carriers seemed to be at an advantage after treatment of alendronate. Compared with AG and AA heterozygote, GG homozygote had the highest % change of BMD (3.100 ± 2.899%) at femoral neck. The odds ratio (95% confidence) of GG homozygote to be responders at femoral neck was 1.921 (1.211-3.048). Two haplotypes GG and AC constituted by rs865429 and rs851057 were associated with the % change of BMD at femoral neck and total hip, respectively. Therefore, the common variation of SOST gene contribute to the therapeutic response to alendronate treatment in Chinese women with osteoporosis or osteopenia.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Alendronato/uso terapêutico , Conservadores da Densidade Óssea/uso terapêutico , Doenças Ósseas Metabólicas/tratamento farmacológico , Polimorfismo de Nucleotídeo Único , Idoso , Densidade Óssea , Doenças Ósseas Metabólicas/genética , Feminino , Haplótipos , Humanos , Pessoa de Meia-Idade , Pós-Menopausa , Via de Sinalização Wnt/efeitos dos fármacos
5.
Annu Int Conf IEEE Eng Med Biol Soc ; 2019: 5225-5228, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31947036

RESUMO

Cognitive impairment is a common outcome of ischemic stroke. Our previous work has shown that an experimental stroke in the cortex reduces activity in remote hippocampal layers in rats. This study seeks to uncover the underlying functional connections between these areas by analyzing changes to oscillatory activity, signal power, and communication. We induced an ischemic stroke in the left somatosensory cortex of rats and used linear micro-electrode arrays to simultaneously record from cortex and hippocampus under urethane anesthesia at two weeks and one month after stroke. We found significant increase in signal power, as well as an increase in the number of brain state changes in response to stroke. Our results suggest that the cortex modulates the activity and stability of hippocampal oscillations, which is disrupted following cortical stroke that can lead to cognitive impairment.


Assuntos
Disfunção Cognitiva , Hipocampo/fisiopatologia , Acidente Vascular Cerebral , Animais , Córtex Cerebral/patologia , Ratos , Acidente Vascular Cerebral/complicações , Ritmo Teta , Uretana
6.
Zhonghua Yan Ke Za Zhi ; 53(5): 338-343, 2017 May 11.
Artigo em Chinês | MEDLINE | ID: mdl-28494561

RESUMO

Objective: To compare the outcome of pars plana vitrectomy (PPV) with a single-layered inverted internal limiting membrane (ILM) flap versus PPV with ILM peeling for the treatment of macular hole associated retinal detachment (MHRD) in high myopia. Methods: In a retrospective cohort study, PPV with 2 kinds of adjuvant surgical procedures were used in 35 moderately high myopia eyes with MHRD. These eyes were divided into 2 groups: group 1 (17 eyes) receiving PPV and ILM peeling and group 2 (18 eyes) receiving PPV with a single-layered inverted ILM flap. Anatomical reattachment of the retina, macular hole closure, and best-corrected visual acuity (BCVA) were measured at 6 months after surgery. Results: The retina was successfully reattached in all cases. The difference of the retinal reattachment rate between the two groups was not statistically significant (Fisher's exact test, P=1.000). The rate of macular hole closure was 47.1% in group 1 (8 eyes) and 88.9% in group 2 (16 eyes). The difference of the macular hole closure rate between the two groups was statistically significant (Fisher's exact test, P= 0.012). Significant improvement in logarithm of minimal angle of resolution (logMAR) BCVA was achieved in both groups. There was no difference in the initial, final, or improved logMAR BCVA in the 2 groups. Conclusion: Single-layered inverted ILM flap technique effectively helps close the macular hole in moderately high myopia with MHRD. This may prevent the possible redetachment from the macular hole. (Chin J Ophthalmol, 2017, 53: 338-343).


Assuntos
Macula Lutea , Miopia/complicações , Descolamento Retiniano/cirurgia , Perfurações Retinianas/cirurgia , Retalhos Cirúrgicos , Feminino , Humanos , Masculino , Retina , Descolamento Retiniano/complicações , Perfurações Retinianas/complicações , Estudos Retrospectivos , Tomografia de Coerência Óptica , Acuidade Visual , Vitrectomia
7.
Osteoporos Int ; 28(1): 211-218, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27468899

RESUMO

This study evaluated the levels of bone turnover markers (BTMs) and investigated relationships between them and bone mineral density (BMD) in postmenopausal women in China suburban district. The prevalence of osteoporosis was 25.03 % at lumbar spine and 6.23 % at femoral neck, and BTMs were negatively correlated with BMDs. INTRODUCTION: The aims of this study were to evaluate the levels of bone turnover markers (BTMs), including serum N-terminal procollagen of type I collagen (P1NP), beta C-terminal cross-linked of type I collagen (ß-CTX), 25-hydroxyvitamin D [25(OH)D], and parathyroid hormone (PTH), and to investigate relationships between these markers and bone mineral density (BMD) as well the prevalence of osteoporosis in postmenopausal women of suburban district. METHODS: A population of 4822 postmenopausal women aged 55-69 years old (62.22 ± 6.75) from the suburban district was recruited voluntarily. BMD was measured at the lumbar spine, femoral neck, and total hip using dual-energy X-ray absorptiometry; 2251 women in this group had the serum BTMs 25(OH)D and PTH tested. RESULTS: The prevalence of osteoporosis was 25.03 % at lumbar spine and 6.23 % at femoral neck. The median (interquartile range) values of serum P1NP, ß-CTX, 25(OH)D, and PTH were 59.3 ng/mL (44.7-75.52), 0.370 ng/mL (0.280-0.490), 23.0 ng/mL (17.1-30.5), and 31.4 pg/mL (24.9-39.7), respectively. Serum P1NP and ß-CTX levels presented significantly negative correlations with BMDs at the all the sites (Betastd = -0.098 to -0.208, respectively, P < 0.001), whereas PTH levels were negatively correlated with BMDs of the femoral neck and total hip (Betastd = -0.062 and -0.054, P < 0.01, respectively). Serum 25(OH)D had positive associations with BMDs at total hip (Betastd = 0.051, P < 0.01). CONCLUSIONS: The BMD of postmenopausal women in China suburban area is higher than that in downtown area, and over 60 % of the participants had their serum 25(OH)D level over 20 ng/mL. BTMs were negatively correlated with BMDs, suggesting that BTMs are reliable factors for early declines in BMD.


Assuntos
Densidade Óssea/fisiologia , Remodelação Óssea/fisiologia , Hormônio Paratireóideo/sangue , Pós-Menopausa/sangue , Vitamina D/análogos & derivados , Idoso , Biomarcadores/sangue , Doenças Ósseas Metabólicas/sangue , Doenças Ósseas Metabólicas/diagnóstico , Doenças Ósseas Metabólicas/epidemiologia , Doenças Ósseas Metabólicas/fisiopatologia , China/epidemiologia , Colágeno Tipo I/sangue , Estudos Transversais , Feminino , Colo do Fêmur/fisiopatologia , Articulação do Quadril/fisiopatologia , Humanos , Vértebras Lombares/fisiopatologia , Pessoa de Meia-Idade , Osteoporose Pós-Menopausa/sangue , Osteoporose Pós-Menopausa/diagnóstico , Osteoporose Pós-Menopausa/epidemiologia , Osteoporose Pós-Menopausa/fisiopatologia , Fragmentos de Peptídeos/sangue , Peptídeos/sangue , Pós-Menopausa/fisiologia , Prevalência , Pró-Colágeno/sangue , Saúde Suburbana/estatística & dados numéricos , Vitamina D/sangue
8.
Osteoporos Int ; 27(5): 1805-15, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26733379

RESUMO

UNLABELLED: Our objective was to investigate the associations between polymorphisms in Wnt pathway genes and peak bone mineral density (BMD) and body composition in young Chinese men. Our study identified that WNT5B and CTNNBL1 for both BMD and body composition, and WNT4 and CTNNB1 gene polymorphisms contribute to the variation in BMD and body composition in young Chinese men, respectively. INTRODUCTION: Our objective was to investigate the associations between polymorphisms in WNT4, WNT5B, WNT10B, WNT16, CTNNB1, and CTNNBL1 genes and peak bone mineral density (BMD), lean mass (LM), and fat mass (FM) in young Chinese men. METHODS: Using SNPscan(TM) kits, 51 single-nucleotide polymorphisms (SNPs) located in the 6 genes were genotyped in a total of 1214 subjects from 399 Chinese nuclear families. BMD, total lean mass (TLM), and total fat mass (TFM) were measured using dual energy X-ray absorptiometry (DXA). The associations between the 51 SNPs and peak BMD and body composition [including the TLM, percentage lean mass (PLM), TFM, percentage fat mass (PFM), and the body mass index (BMI)] were analyzed through quantitative transmission disequilibrium tests (QTDTs). RESULTS: For peak BMD, we found significant within-family associations of rs2240506, rs7308793, and rs4765830 in the WNT5B gene and rs10917157 in the WNT4 gene with the lumbar spine BMD (all P < 0.05). We detected an association of rs11830202, rs3809269, rs1029628, and rs6489301 in the WNT5B gene and rs2293303 in the CTNNB1 gene with body composition (all P < 0.05). For the CTNNBL1 gene, six SNPs (rs6126098, rs6091103, rs238303, rs6067647, rs8126174, and rs4811144) were associated with peak BMD of the lumbar spine, femoral neck, or total hip (all P < 0.05). Furthermore, two of the six SNPs (rs8126174 and rs4811144) were associated with body composition. CONCLUSIONS: This study identified WNT5B and CTNNBL1 for peak BMD and body composition in males from the Han Chinese ethnic group, and the results suggest a site-specific gene regulation. The WNT4 and CTNNB1 gene polymorphisms contribute to the variation in peak BMD and body composition, respectively.


Assuntos
Povo Asiático/genética , Composição Corporal/genética , Densidade Óssea/genética , Polimorfismo de Nucleotídeo Único , Via de Sinalização Wnt/genética , Absorciometria de Fóton/métodos , Adulto , Idoso , Composição Corporal/fisiologia , Índice de Massa Corporal , Densidade Óssea/fisiologia , Feminino , Colo do Fêmur/fisiologia , Estudos de Associação Genética , Genótipo , Haplótipos , Humanos , Desequilíbrio de Ligação , Vértebras Lombares/fisiologia , Masculino , Pessoa de Meia-Idade , Núcleo Familiar , Via de Sinalização Wnt/fisiologia
9.
J Neurosci Methods ; 256: 220-31, 2015 Dec 30.
Artigo em Inglês | MEDLINE | ID: mdl-26296286

RESUMO

BACKGROUND: To dissect the intricate workings of neural circuits, it is essential to gain precise control over subsets of neurons while retaining the ability to monitor larger-scale circuit dynamics. This requires the ability to both evoke and record neural activity simultaneously with high spatial and temporal resolution. NEW METHOD: In this paper we present approaches that address this need by combining micro-electrocorticography (µECoG) with optogenetics in ways that avoid photovoltaic artifacts. RESULTS: We demonstrate that variations of this approach are broadly applicable across three commonly studied mammalian species - mouse, rat, and macaque monkey - and that the recorded µECoG signal shows complex spectral and spatio-temporal patterns in response to optical stimulation. COMPARISON WITH EXISTING METHODS: While optogenetics provides the ability to excite or inhibit neural subpopulations in a targeted fashion, large-scale recording of resulting neural activity remains challenging. Recent advances in optical physiology, such as genetically encoded Ca(2+) indicators, are promising but currently do not allow simultaneous recordings from extended cortical areas due to limitations in optical imaging hardware. CONCLUSIONS: We demonstrate techniques for the large-scale simultaneous interrogation of cortical circuits in three commonly used mammalian species.


Assuntos
Eletrocorticografia/métodos , Optogenética/métodos , Animais , Artefatos , Percepção Auditiva/fisiologia , Córtex Cerebral/fisiologia , Desenho Assistido por Computador , Impedância Elétrica , Eletrocorticografia/instrumentação , Eletrodos Implantados , Desenho de Equipamento , Potenciais Evocados/fisiologia , Macaca mulatta , Masculino , Camundongos Transgênicos , Inibição Neural/fisiologia , Neurônios/fisiologia , Optogenética/instrumentação , Estimulação Luminosa/métodos , Ratos Long-Evans , Compostos de Estanho
10.
Pharmacogenomics J ; 15(2): 158-64, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25223561

RESUMO

Alendronate is an antiosteoporotic drug that targets the mevalonate pathway. To investigate whether the genetic variations in this pathway affect the clinical efficacy of alendronate in postmenopausal Chinese women with osteopenia or osteoporosis, 23 single-nucleotide polymorphisms (SNPs) in 7 genes were genotyped in 500 patients treated with alendronate for 12 months. Bone mineral density (BMD) was measured at baseline and after 12 months. The rs10161126 SNP in the 3' flanking region of MVK and the GTCCA haplotype in FDFT1 were significantly associated with therapeutic response. A 6.6% increase in BMD in the lumbar spine was observed in the GG homozygotes of rs10161126; AG heterozygotes and AA homozygotes experienced a 4.4 and 4.5% increase, respectively. The odds ratio (95% confidence interval) of G allele carriers to be responders in lumbar spine BMD was 2.06 (1.08-6.41). GTCCA haplotype in FDFT1 was more frequently detected in the group of responders than in the group of non-responders at the total hip (2.6 vs 0.5%, P=0.009). Therefore, MVK and FDFT1 polymorphisms are genetic determinants for BMD response to alendronate therapy in postmenopausal Chinese women.


Assuntos
Alendronato/uso terapêutico , Conservadores da Densidade Óssea/uso terapêutico , Densidade Óssea/efeitos dos fármacos , Ácido Mevalônico/metabolismo , Polimorfismo de Nucleotídeo Único/genética , Pós-Menopausa/efeitos dos fármacos , Pós-Menopausa/genética , Idoso , Alelos , Povo Asiático/genética , Densidade Óssea/genética , Doenças Ósseas Metabólicas/tratamento farmacológico , Doenças Ósseas Metabólicas/genética , Feminino , Haplótipos , Humanos , Vértebras Lombares/efeitos dos fármacos , Vértebras Lombares/metabolismo , Osteoporose/tratamento farmacológico , Osteoporose/genética , Fosfotransferases (Aceptor do Grupo Álcool)/genética
11.
Osteoporos Int ; 25(12): 2797-803, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25103216

RESUMO

UNLABELLED: The bone mineral density (BMD) of a total of 1,379 healthy postmenopausal Chinese women was measured. Ten tagging SNPs of the sclerostin (SOST) gene were genotyped. Our results suggest that the polymorphisms of the rs2023794 and rs74252774 in the SOST gene were associated with BMD of the lumbar spine in postmenopausal Chinese women. INTRODUCTION: The purpose of the study was to determine the associations between polymorphisms of SOST gene and BMD in postmenopausal Chinese women. METHODS: A total of 1,379 independent healthy postmenopausal Chinese women including 703 in our previous study were recruited. The BMD of the lumbar spine 1-4 (L1-4) and left proximal femur including total hip and femoral neck were measured by dual-energy X-ray absorptiometry. Ten tagging SNPs (rs1234612, rs1513670, rs1634330, rs1708635, rs2023794, rs7220711, rs74252774, rs851057, rs851058, and rs865429) of the SOST gene were genotyped. RESULTS: The rs2023794 and rs74252774 and the haplotype ACCATTCT of SOST gene were associated with age and body mass index (BMI) adjusted L1-4 BMD (P values were 0.010, 0.007, and 0.007, respectively) even after performing the Bonferroni multiple-significance-test correction. There was a clear trend in these regions that the CC genotype of the rs2023794 and the TT genotype of the rs74252774 have higher BMD values than other genotypes. The contributions of the rs2023794 and rs74252774 to the phenotypic variation of L1-4 BMD were 0.6 and 0.7 %, respectively. We failed to find any association between the 10 SNPs and 6 haplotypes of the SOST gene and BMD at the hip site in this study. CONCLUSIONS: Our results suggest that the polymorphisms of the rs2023794 and rs74252774 in the SOST gene were associated with BMD of the lumbar spine in a large sample of postmenopausal Chinese women.


Assuntos
Povo Asiático/genética , Densidade Óssea/genética , Proteínas Morfogenéticas Ósseas/genética , Marcadores Genéticos/genética , Polimorfismo de Nucleotídeo Único , Proteínas Adaptadoras de Transdução de Sinal , Idoso , Feminino , Frequência do Gene , Haplótipos , Humanos , Vértebras Lombares/fisiologia , Pessoa de Meia-Idade , Pós-Menopausa/genética , Pós-Menopausa/fisiologia
13.
Osteoporos Int ; 23(7): 1889-97, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22089472

RESUMO

SUMMARY: Association between ten single-nucleotide polymorphisms (SNPs) in the human ALOX12 and ALOX15 genes and variations in peak bone mineral density (BMD) in a large sample of Chinese nuclear families with female offspring using the quantitative transmission disequilibrium test (QTDT). Our results suggest that the genetic polymorphisms in both human ALOX12 and ALOX15 may contribute to variations in the peak BMD of Chinese women. INTRODUCTION: The aim of this study was to investigate whether polymorphisms in the human ALOX12 and ALOX15 genes are associated with variations in peak BMD in Chinese nuclear families with female offspring. METHODS: Each five SNPs in the ALOX12 and ALOX15 genes were genotyped in a total of 1,260 individuals from 401 Chinese nuclear families. The BMD of the lumbar spine, femoral neck and total hip was measured by dual-energy X-ray absorptiometry. We tested whether a single SNP or a haplotype was associated with peak BMD variations using the QTDT. RESULTS: Using QTDT to measure within-family associations in ALOX15, we observed a significant association between rs916055 and BMD in the lumbar spine (p = 0.027 in the permutation 1,000 test). However, in ALOX12, rs312470 was significantly associated with BMD in the femoral neck (p = 0.029 and p = 0.036 in the permutation 1,000 test). The results of a haplotype analysis supported the findings of the single locus test for ALOX15. CONCLUSIONS: Our results suggest that the genetic polymorphisms in both human ALOX12 and ALOX15 may contribute to variations in the peak BMD of Chinese women.


Assuntos
Araquidonato 12-Lipoxigenase/genética , Araquidonato 15-Lipoxigenase/genética , Povo Asiático/genética , Densidade Óssea/genética , Polimorfismo de Nucleotídeo Único , Absorciometria de Fóton , Adulto , Idoso , Feminino , Colo do Fêmur/fisiologia , Frequência do Gene/genética , Genótipo , Haplótipos , Articulação do Quadril/fisiologia , Humanos , Desequilíbrio de Ligação/genética , Vértebras Lombares/fisiologia , Pessoa de Meia-Idade , Adulto Jovem
14.
Int J Obes (Lond) ; 35(3): 378-86, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20697415

RESUMO

OBJECTIVE: Arachidonate 12-lipoxygenase (ALOX12) is a member of the lipoxygenase superfamily, which catalyzes the incorporation of molecular oxygen into polyunsaturated fatty acids. The products of ALOX12 reactions serve as endogenous ligands for peroxisome proliferator-activated receptor γ (PPARG). The activation of the PPARG pathway in marrow-derived mesenchymal progenitors stimulates adipogenesis and inhibits osteoblastogenesis. Our objective was to determine whether polymorphisms in the ALOX12 gene were associated with variations in peak bone mineral density (BMD) and obesity phenotypes in young Chinese men. METHODS: All six tagging single-nucleotide polymorphisms (SNPs) in the ALOX12 gene were genotyped in a total of 1215 subjects from 400 Chinese nuclear families by allele-specific polymerase chain reaction. The BMD at the lumbar spine and hip, total fat mass (TFM) and total lean mass (TLM) were measured using dual-energy X-ray absorptiometry. The pairwise linkage disequilibrium among SNPs was measured, and the haplotype blocks were inferred. Both the individual SNP markers and the haplotypes were tested for an association with the peak BMD, body mass index, TFM, TLM and percentage fat mass (PFM) using the quantitative transmission disequilibrium test (QTDT). RESULTS: Using the QTDT, significant within-family association was found between the rs2073438 polymorphism in the ALOX12 gene and the TFM and PFM (P=0.007 and 0.012, respectively). Haplotype analyses were combined with our individual SNP results and remained significant even after correction for multiple testing. However, we failed to find significant within-family associations between ALOX12 SNPs and the BMD at any bone site in young Chinese men. CONCLUSIONS: Our present results suggest that the rs2073438 polymorphism of ALOX12 contributes to the variation of obesity phenotypes in young Chinese men, although we failed to replicate the association with the peak BMD variation in this sample. Further independent studies are needed to confirm our findings.


Assuntos
Araquidonato 12-Lipoxigenase/genética , Densidade Óssea/genética , Obesidade/genética , Polimorfismo de Nucleotídeo Único/genética , Absorciometria de Fóton , Adulto , Povo Asiático , Distribuição da Gordura Corporal , Índice de Massa Corporal , Genótipo , Humanos , Desequilíbrio de Ligação/genética , Masculino , Pessoa de Meia-Idade , Núcleo Familiar , Obesidade/etnologia
15.
Osteoporos Int ; 21(5): 873-82, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-19644638

RESUMO

UNLABELLED: Association between SNPs in polymorphism in peroxisome [corrected] proliferator-activated receptor-gamma (PPARG) and peak bone mineral density (BMD) variation of women was measured in 401 Chinese nuclear families using quantitative transmission disequilibrium test (QTDT). The peak BMD variation was not attributable to PPARG in our sample. INTRODUCTION: The purpose of this study is to test whether genetic PPARG might play a role in normal variation in peak BMD. METHODS: We genotyped 10 tagging SNPs in PPARG using allele-specific polymerase chain reaction and further test whether these SNPs were associated with peak BMD variation at the lumbar spine and femoral neck of women in 401 Chinese nuclear families using QTDT. Furthermore, the association between these SNPs in PPARG and BMD in 710 postmenopausal Chinese women was measured. RESULTS: Using QTDT for within-family association, we failed to find that single SNP and haplotype were significantly associated with peak BMD at the lumbar spine and femoral neck. Meanwhile, we found that only rs1801282 was significantly associated with BMD at the lumbar spine in postmenopausal women (P = 0.013). CONCLUSIONS: Our present results suggest, for the first time, that the genetic polymorphism in PPARG is not a major contributor to the observed variability in peak BMD at the lumbar spine and femoral neck in Chinese women.


Assuntos
Densidade Óssea/genética , PPAR gama/genética , Polimorfismo de Nucleotídeo Único , Absorciometria de Fóton , Adulto , Idoso , Feminino , Colo do Fêmur/fisiologia , Frequência do Gene , Genótipo , Haplótipos , Humanos , Desequilíbrio de Ligação , Vértebras Lombares/fisiologia , Pessoa de Meia-Idade , Pós-Menopausa/genética , Pós-Menopausa/fisiologia
16.
Osteoporos Int ; 19(1): 39-47, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17703271

RESUMO

UNLABELLED: We identified 17 polymorphisms in myostatin by sequencing, and three informative single nucleotide polymorphisms (SNPs) were selected for further observation for their association with peak BMD of women in 401 Chinese nuclear families. Our results suggest that genetic polymorphisms in myostatin likely play a role in attainment of peak BMD in Chinese women. INTRODUCTION: Myostatin is a TGF-beta family member that is a negative regulator of skeletal muscle growth. MATERIALS AND METHODS: We identified SNPs in myostatin by direct sequencing. Furthermore, using a quantitative transmission disequilibrium test (QTDT). we tested and further test whether SNPs were associated with peak bone mineral density (BMD) variation at the spines and hips of 401 Chinese nuclear families. We identified 17 polymorphisms in myostatin by sequencing. Next, we selected three informative SNPs for further observation of an association with peak BMD of premenopausal women in 401 Chinese nuclear families. RESULTS: Using QTDT for the within-family association, we found significant association between rs2293284 and total hip, femoral neck, and trochanter BMD (all p < 0.05), while rs7570532 was associated with total hip and trochanter BMD (p = 0.034 and p = 0.035, respectively). The within-family association was significant between BMI and +2278G > A (p = 0.022). Subsequent permutations were in agreement with these significant within-family association results. Moreover, analyses of the haplotypes confer further evidence for association of rs2293284 and rs7570532 with hip peak BMD variation. CONCLUSIONS: These results suggest, for the first time, the genetic polymorphisms in myostatin likely play a role in attainment of peak BMD in Chinese women.


Assuntos
Povo Asiático/genética , Densidade Óssea/genética , Polimorfismo de Nucleotídeo Único , Fator de Crescimento Transformador beta/genética , Adulto , China , Feminino , Fêmur/química , Haplótipos/genética , Humanos , Desequilíbrio de Ligação , Vértebras Lombares/química , Miostatina , Núcleo Familiar
17.
J Physiol ; 576(Pt 2): 457-76, 2006 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-16887877

RESUMO

The rodent hippocampal circuit is capable of exhibiting in vitro spontaneous rhythmic field potentials (SRFPs) of 1-4 Hz that originate from the CA3 area and spread to the CA1 area. These SRFPs are largely correlated with GABA-A IPSPs in pyramidal neurons and repetitive discharges in inhibitory interneurons. As such, their generation is thought to result from cooperative network activities involving both pyramidal neurons and GABAergic interneurons. Considering that the hippocampus, subiculum and entorhinal cortex function as an integrated system crucial for memory and cognition, it is of interest to know whether similar SRFPs occur in hippocampal output structures (that is, the subiculum and entorhinal cortex), and if so, to understand the cellular basis of these subicular and entorhinal SRFPs as well as their temporal relation to hippocampal SRFPs. We explored these issues in the present study using thick hippocampal-subicular-entorhinal cortical slices prepared from adult mice. SRFPs were found to spread from the CA1 area to the subicular and entorhinal cortical areas. Subicular and entorhinal cortical SRFPs were correlated with mixed IPSPs/EPSPs in local pyramidal neurons, and their generation was dependent upon the activities of GABA-A and AMPA glutamate receptors. In addition, the isolated subicular circuit could elicit SRFPs independent of CA3 inputs. We hypothesize that the SRFPs represent a basal oscillatory activity of the hippocampal-subicular-entorhinal cortices and that the subiculum functions as both a relay and an amplifier, spreading the SRFPs from the hippocampus to the entorhinal cortex.


Assuntos
Potenciais de Ação/fisiologia , Córtex Entorrinal/fisiologia , Hipocampo/fisiologia , Periodicidade , Animais , Eletroencefalografia , Eletrofisiologia , Interneurônios/fisiologia , Camundongos , Camundongos Endogâmicos C57BL , Neurônios Aferentes/fisiologia , Técnicas de Patch-Clamp , Células Piramidais/fisiologia , Receptores de GABA-A/fisiologia
18.
Environ Int ; 29(2-3): 377-83, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12676230

RESUMO

A coupled numerical model of the atmospheric thermo-hydrodynamics and pollutant photochemical transport is described. This model can be used to study the complex relationships between the chemical and thermo-hydrodynamic processes in the atmosphere of urban areas with an emphasis on photochemical ozone formation. Preliminary numerical results of ozone and other key chemical atmospheric pollutant concentrations and distribution across the Houston-Galveston-Brazoria area using virtual emission data from area and mobile sources are presented.


Assuntos
Poluentes Atmosféricos , Modelos Teóricos , Oxidantes Fotoquímicos , Ozônio , Movimentos do Ar , Cidades , Fotoquímica , Temperatura , Texas
19.
Ross Gastroenterol Zh ; (2): 46-56, 2001.
Artigo em Inglês, Russo | MEDLINE | ID: mdl-11686192

RESUMO

AIM: To construct a single cDNA clone with full-length genome of hepatitis G virus (HGV) could be transcribed and expressed in vitro. METHODS: The 5 initial HGV cDNA fragments of Iw5, Iwq2, Iwh6, Iw3 and Iw3 used in this study were amplified from serum of a Japanese non A-E hepatitis patient. These fragments overlapped and covered the entire genome from 5'-end to 3'-end of HGV cDNA. Overlap extension PCR and ligation methods were used with 12 primers for the construction of a full-length genomic HGV cDNA clone from the subgenomic fragments. RESULTS: A single HGV cDNA clone (pHGVqz) was successfully constructed, physical mapping of the generated pHGVqz found identical to what we expected, and the sequence was deposited with the GenBank under the Accession number AF081782. The analysis of the full-length sequence, which was able to be in vitro transcribed and expressed, showed that this single clone contained 9373 nucleotides (encoding 2873 amino acids), and shared high homologies with other compared HGV isolates. CONCLUSION: A full-length genomic HGV cDNA clone is generated for the first of the kind in this study, it could be expressed and transcripted. This single cDNA clone is expected to be of importance in the investigation on replication and pathogenicity of HGV.


Assuntos
Clonagem Molecular/métodos , DNA Complementar/genética , DNA de Cadeia Simples/genética , Vírus GB C/genética , Genoma Viral , Western Blotting , Primers do DNA/genética , DNA Polimerase Dirigida por DNA/genética , Eletroforese em Gel de Ágar/métodos , Humanos , Técnicas In Vitro , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , RNA Viral/genética
20.
Eur J Neurosci ; 12(11): 4147-52, 2000 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11069611

RESUMO

Schwann cells participate in myelin phagocytosis in the early stage of Wallerian degeneration, prior to the recruitment of macrophages. This is the first report that Schwann cells induce heme oxygenase-1 (HO-1), a 32-kDa heat shock protein, only when they have transformed into myelin-phagocytosing cells from myelinating cells (days 2-3) immediately after crush injury of rat sciatic nerves. Double immunofluorescent labelling for HO-1 and transferrin receptors revealed that HO-1-immunoreactive Schwann cells also expressed transferrin receptors suggesting activation of iron metabolism. The transient induction of HO-1 in Schwann cells may contribute to the adaptive function in an altered environment when the cells have lost contact with axons, and may play a crucial role in the ensuing regeneration.


Assuntos
Heme Oxigenase (Desciclizante)/biossíntese , Bainha de Mielina/fisiologia , Células de Schwann/fisiologia , Nervo Isquiático/fisiologia , Animais , Indução Enzimática , Heme Oxigenase-1 , Masculino , Compressão Nervosa , Ratos , Ratos Wistar , Células de Schwann/enzimologia , Nervo Isquiático/enzimologia , Nervo Isquiático/lesões , Degeneração Walleriana
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