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1.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(5): 736-740, 2023 May 06.
Artículo en Zh | MEDLINE | ID: mdl-37165821

RESUMEN

This study analyzed the anemia status and change trend of 219 835 pregnant women in eight provinces from 2016 to 2020 in the Maternal and Newborn Health Monitoring Program(MNHMP). The results showed that from 2016 to 2020, the anemia rate of pregnant women in eight provinces was 41.27%, and the rates of mild, moderate and severe anemia were 28.56%, 12.59% and 0.12% respectively; the anemia rates in eastern, central and western regions were 41.87%, 36.09% and 44.63% respectively, and the anemia rates in urban and rural areas were 39.87% and 42.23%. From 2016 to 2020, the anemia rate of pregnant women decreased from 44.93% to 38.22%, with an average annual decline of 3.86% (95%CI:-5.84%, -1.85%). The anemia rate among pregnant women of the eastern region (AAPC=-6.16%, 95%CI:-9.79%, -2.38%) fell faster than that among pregnant women of the central region (AAPC=0.71%, 95%CI:-6.59%, 8.57%) and western region (AAPC=-1.53%, 95%CI:-5.19%, 2.28%). From 2016 to 2020, the moderate anemia rate in pregnant women decreased from 14.98% to 10.74%, with an average annual decline of 8.72% (95%CI:-12.90%, -4.34%), with a statistically significant difference (P<0.05); AAPC for mild and severe anemia in pregnant women was 1.56% (95%CI: 3.44%, 0.36%) and 18.86% (95%CI: 39.88%, 9.52%), respectively, without statistically significant difference (P>0.05).


Asunto(s)
Anemia , Mujeres Embarazadas , Recién Nacido , Femenino , Humanos , Embarazo , Prevalencia , Anemia/epidemiología , China/epidemiología , Familia , Población Rural
2.
Zhonghua Yan Ke Za Zhi ; 57(6): 433-439, 2021 Jun 11.
Artículo en Zh | MEDLINE | ID: mdl-34098692

RESUMEN

Objective: To observe the efficacy of macular buckling in the treatment of highly myopic traction maculopathy. Methods: Retrospective case series study. The patients with high myopia who underwent macular buckling at the Zhongshan Ophthalmic Center of Sun Yat-sen University from June 2014 to June 2019 were enrolled, including 136 males and 212 females. The age was (56.68±11.59) years old. The outcomes measured included retinal reattachment rate, foveoschisis recovery rate, macular hole closure rate, postoperative best corrected visual acuity (BCVA), axial length (AL), and complications. The measurements were recorded preoperatively and at 1 month, 6 months, 1 year, 2 years, and 3 years postoperatively. The data was statistically analyzed using paired t test. Results: A total of 378 eyes were included, including 216 eyes with foveoschisis and macular detachment and 162 eyes with macular holes and macular detachment. Among them, 296 eyes underwent macular buckling, and the other 82 eyes underwent macular buckling combined with pars plana vitrectomy. During the follow-up period, 373 eyes (98.68%) achieved retinal reattachment; in patients with foveoschisis, 204 eyes (94.44%) were recovered; in patients with macular holes, 89 eyes (54.09%) achieved closure. All the postoperative results of BCVA were better than the preoperative value (1.459±0.841). BCVA continued to increase from postoperative month 1, remained stable at 1 year, and reached 0.908±0.606 at 3 years (t=6.896, P<0.01). All the postoperative results of AL were shorter than the preoperative value. The AL shortened by (4.423±1.740)mm at one month (t=33.144, P<0.01), increased gradually thereafter, remained stable at 1 year, and shortened by (2.101±1.643) mm at three years (t=6.392, P<0.01). The common complications included transient high intraocular pressure in 98 eyes (25.92%), epiretinal hemorrhage in 67 eyes (17.72%), and vitreous hemorrhage in 9 eyes (2.38%), which all resolved spontaneously within 1 month. In the early postoperative period, all patients had a certain degree of eye movement limitation, and 39 eyes (10.31%) had diplopia which resolved within 6 months without treatment. The strabismus surgery was arranged to treat esotropia in 6 eyes (1.58%). The macular buckle was removed from 1 eye (0.26%) because of the inability to tolerate diplopia. There were 8 eyes (2.11%) requiring a second operation to adjust the position of the buckle. The macular buckle was also removed from 4 eyes (1.05%) due to the implant rejection. Conclusion: Macular buckling can effectively shorten the AL, resolve posterior scleral staphyloma, and improve vision in the treatment of highly myopic traction maculopathy. (Chin J Ophthalmol, 2021, 57: 433-439).


Asunto(s)
Degeneración Macular , Miopía Degenerativa , Desprendimiento de Retina , Perforaciones de la Retina , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Miopía Degenerativa/cirugía , Desprendimiento de Retina/cirugía , Perforaciones de la Retina/cirugía , Estudios Retrospectivos , Curvatura de la Esclerótica , Tracción , Agudeza Visual , Vitrectomía
3.
Neuropathol Appl Neurobiol ; 46(4): 375-390, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-31628877

RESUMEN

AIMS: Accumulating studies have suggested that base excision repair (BER) is the major repair pathway of oxidative DNA damage in neurons, and neurons are deficient in other DNA repair pathways, including nucleotide excision repair and homologous recombination repair. However, some studies have demonstrated that neurons could efficiently repair glutamate- and menadione-induced double-strand breaks (DSBs), suggesting that the DSB repair mechanisms might be implicated in neuronal health. In this study, we hypothesized that BER and nonhomologous end joining (NHEJ) work together to repair oxidative DNA damage in neurons. METHODS: Immunohistochemistry and confocal microscopy were employed to examine the colocalization of apyrimidinic endonuclease 1 (APE1), histone variant 2AX (γH2AX) and phosphorylated p53-binding protein (53BP1). APE1 inhibitor and shRNA were respectively applied to suppress APE1 activity and protein expression to determine the correlation of APE1 and DSB formation. The neutral comet assay was used to determine and quantitate the formation of DSB. RESULTS: Both γH2AX and 53BP1 were upregulated and colocalized with APE1 in the nuclei of rat cortical neurons subjected to menadione-induced oxidative insults. Phospho53BP1 foci were efficiently abolished, but γH2AX foci persisted following the suppression of APE1 activity. Comet assays demonstrated that the inhibition of APE1 decreased the DSB formation. CONCLUSIONS: Our results indicate that APE1 can engage the NHEJ mechanism in the repair of oxidative DNA damage in neurons. These findings provide insights into the mechanisms underlying the efficient repair of oxidative DNA damage in neurons despite the high oxidative burden.


Asunto(s)
Daño del ADN/genética , Reparación del ADN por Unión de Extremidades/genética , Reparación del ADN/genética , ADN-(Sitio Apurínico o Apirimidínico) Liasa/metabolismo , Neuronas/metabolismo , Animales , Células Cultivadas , Estrés Oxidativo/genética , Ratas , Ratas Sprague-Dawley
4.
Phys Rev Lett ; 123(6): 066402, 2019 Aug 09.
Artículo en Inglés | MEDLINE | ID: mdl-31491189

RESUMEN

The momentum dependence of the nematic order parameter is an important ingredient in the microscopic description of iron-based high-temperature superconductors. While recent reports on FeSe indicate that the nematic order parameter changes sign between electron and hole bands, detailed knowledge is still missing for other compounds. Combining angle-resolved photoemission spectroscopy with uniaxial strain tuning, we measure the nematic band splitting in both FeSe and BaFe_{2}As_{2} without interference from either twinning or magnetic order. We find that the nematic order parameter exhibits the same momentum dependence in both compounds with a sign change between the Brillouin center and the corner. This suggests that the same microscopic mechanism drives the nematic order in spite of the very different phase diagrams.

5.
Zhonghua Yi Xue Za Zhi ; 98(29): 2331-2335, 2018 Aug 07.
Artículo en Zh | MEDLINE | ID: mdl-30107691

RESUMEN

Objective: To analyze the risk factors of perioperative complications within 30 days of carotid endarterectomy(CEA) in the treatment of carotid atherosclerosis stenosis(CAS) during 2011-2017, and to discuss the techniques for reducing the perioperative complication rates. Methods: From August 2011 to August 2017, 486 patients with CAS were retrospective included, and 61 of them underwent bilateral CEA, with a total of 547 cases of CEA included. Perioperative complications were collected within 30 days after operation, and the risk factors related to perioperative complications were analyzed by statistical analysis. Results: In total 547 cases, 12 cases had a postoperative stroke, while 1 case died. A total of 7 cases underwent cranial nerve injury, and 5 cases had an incision related complications. In chi-square test analysis, data suggested that there was a significant difference in the incidence of complications in patients with heart disease, preoperative neurological score difference, contralateral carotid serious stenosis or occlusion and intraoperative shunt in CCA/ICA technique application (P<0.05). In the multivariate Logistic regression, it suggested that poor preoperative neurological score and contralateral carotid serious stenosis or occlusion were independent risk factors for perioperative stroke and death. Conclusion: Our results showed that CEA is effective to prevent stroke and treat patients with CAS. Patients with poor preoperative neurological score and contralateral carotid serious stenosis or occlusion may increase the risk of postoperative stroke rates.


Asunto(s)
Endarterectomía Carotidea , Estenosis Carotídea , Humanos , Complicaciones Posoperatorias , Estudios Retrospectivos , Factores de Riesgo , Stents , Accidente Cerebrovascular , Resultado del Tratamiento
6.
Bratisl Lek Listy ; 119(5): 284-288, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29749242

RESUMEN

BACKGROUND: miR-138 is one of the down-regulated miRNAs during acute spinal cord injury. Mixed lineage kinase 3 (MLK3), a key factor of jun N-terminal kinase (JNK)/mitogen-activated protein kinase (MAPK) pathway, is the target of miR-138. The aim of this study was to investigate the role of miR-138 in H2O2-treated BV-2 cells. METHODS: Murine microglia BV-2 cells were treated with H2O2 and tested for cell viability and miR-138 expression. The cells were then transfected with miR-138 agomir or miR-138 antagomir, and treated with 200 µM H2O2 for 24 h. The cellular apoptosis was detected by Aennexin V/PI staining. Expression of miR-138, MLK3, and other factors of JNK/MAPK pathway was detected. RESULTS: After treatment of various concentrations of H2O2, the cell viabilities were reduced, and miR-138 expression was down-regulated. Compared to the control cells, over-expressing miR-138 in BV-2 cells reduced apoptosis rate from 24.2 % to 11.9 %. Western blot further showed that JNK, p-JNK, c-jun, p-c-jun, p38 MAPK, and p-p38 MAPK were down-regulated. Expression of pro-apoptosis factors iNOS and COX-2 were also down-regulated. Transfection of miR-138 antagomir produced the opposite effect of the transfection of miR-138 agomir. CONCLUSION: miR-138 was able to reduce H2O2-induced apoptosis in BV-2 cells. The protective effect was related to the down-regulation of MLK3 proteins and sequentially inhibiting JNK/MAPK signaling pathway (Fig. 3, Ref. 27). Text in PDF www.elis.sk.


Asunto(s)
Apoptosis , MicroARNs , Proteínas Quinasas Activadas por Mitógenos , Animales , Apoptosis/fisiología , Peróxido de Hidrógeno , Quinasas Quinasa Quinasa PAM/metabolismo , Ratones , MicroARNs/fisiología , Proteínas Quinasas Activadas por Mitógenos/metabolismo , Proteina Quinasa Quinasa Quinasa 11 Activada por Mitógeno
7.
Zhonghua Gan Zang Bing Za Zhi ; 26(3): 238-240, 2018 Mar 20.
Artículo en Zh | MEDLINE | ID: mdl-29804398

RESUMEN

Hepatocellular carcinoma (HCC) is one of the most common malignant tumors in China with high morbidity and mortality, and its mortality rate is only lower than that of gastric cancer. It poses a serious threat to patients' life, which needs to be given special concerns by clinicians and patients for active implementation of effective treatment methods. Generally, major operation is the mainstay of management. Radiotherapy has gained its popularity when diagnosed have no indications for surgical therapy. An effective radiotherapy plans promote the remission of hepatocellular carcinoma to improve patients condition, prognosis, and survival rate. Therefore, we conducted this study to know the research progress of radiotherapy for hepatocellular carcinoma.


Asunto(s)
Carcinoma Hepatocelular/radioterapia , Neoplasias Hepáticas/radioterapia , Radioterapia/métodos , China , Humanos , Pronóstico , Resultado del Tratamiento
8.
Epidemiol Infect ; 145(9): 1843-1851, 2017 07.
Artículo en Inglés | MEDLINE | ID: mdl-28351443

RESUMEN

Pig farmers and veterinarians have high prevalence of methicillin-resistant Staphylococcus aureus (MRSA) due to the occupational livestock exposure, while few reported this association on slaughterhouse workers. We conducted this cross-sectional study to explore the phenotypic and molecular characteristics of S. aureus and MRSA in slaughterhouse pig-related workers and control workers in Guangdong Province, China. Participants were interviewed and provided two nasal swabs. Swabs were tested for S. aureus, and isolates were further tested for antimicrobial susceptibility, virulence genes and multi-locus sequence typing. Compared with control workers, pig-related workers have significantly higher prevalence of MRSA carriage (adjusted odd ratio (aOR) 3·70, 95% CI 1·63-8·40). The proportions of MRSA resistant to clindamycin, erythromycin, tetracycline or chloromycetin were significantly higher in pig-related workers than in control workers. The predominant phenotypes of S. aureus were resistant to penicillin, clindamycin, erythromycin and tetracycline. Three MRSA CC9 isolates with livestock-associated characteristics (resistance to tetracycline and absence of immune evasion cluster (IEC) genes) were detected in pig-related workers but not in control workers. For human-associated CCs (CC7, CC59, CC6, and CC188), there was no significant difference in IEC profile or antimicrobial resistance between the groups. These findings reveal that there may be a potential risk for livestock-to-human transmission of LA-MRSA and human-to-human transmission of human-associated MRSA.


Asunto(s)
Antibacterianos/farmacología , Farmacorresistencia Bacteriana , Enfermedades Profesionales/epidemiología , Infecciones Estafilocócicas/epidemiología , Staphylococcus aureus/efectos de los fármacos , Staphylococcus aureus/fisiología , Mataderos , Adolescente , Adulto , China/epidemiología , Femenino , Humanos , Masculino , Staphylococcus aureus Resistente a Meticilina/genética , Staphylococcus aureus Resistente a Meticilina/aislamiento & purificación , Staphylococcus aureus Resistente a Meticilina/fisiología , Persona de Mediana Edad , Enfermedades Profesionales/microbiología , Prevalencia , Infecciones Estafilocócicas/microbiología , Staphylococcus aureus/genética , Staphylococcus aureus/aislamiento & purificación , Adulto Joven
9.
Zhonghua Yu Fang Yi Xue Za Zhi ; 51(8): 698-702, 2017 Aug 06.
Artículo en Zh | MEDLINE | ID: mdl-28763918

RESUMEN

Objective: To investigate the association between single nucleotide polymorphisms (SNP) in cytokine IL6, IL10 genes and the susceptibility to primary hepatic carcinoma(PHC) of Shunde district in Guangdong Province. Methods: Patients from two hospitals in Shunde District of Foshan City were selected from October 2010 to October 2012. Case group inclusion criteria includedprimary liver cancer; local residents of Shunde or living in Shunde for more than 10 years. The control group inclusion criteria included: patients visited ENT, general surgery and physical examination department in the same hospital during the same period; Local residents or living in Shunde for 10 years and above. The control group was matched 1∶1 by gender, and age (±3 years old) with case group. A total of 306 subjects were collected. Questionnaires were used to investigate the information including demographic characteristics, PHC status survey and so on. The venous blood was collected from each subject to extract DNA, and to detect label SNP site and genotype. Hardy-Weinberg equilibrium was detected in the control group by the goodness-of-fit χ(2) test. Multivariate conditional logistic regression was used to estimate the relationship between IL6 (rs1800796), IL10 (rs1800871, rs1800872)genes polymorphisms and susceptibility to PHC. Results: There were 264 males and 42 females both in the case group and the control group, with an average age of (55.84±11.49) and (55.83±11.67) years old respectively (t=0.011, P=0.992). The frequencies of IL6 (rs1800796), IL10 (rs1800871) and IL10 (rs1800872) genotypes in the control group were in accordance with the Hardy-Weinberg equilibrium, which indicated the population was representative (all P values>0.05). Conditional logistic regression analysis showed that compared with the AA genotype and AA+AC genotype of IL10(rs1800872), CC genotype increased the risk of PHC by 2.02 times (OR=3.02, 95%CI:1.21-7.56)and 1.89 times (OR=2.89, 95%CI:1.19-7.04)respectively after the smoking history, eating fish history, drinking history, chronic hepatitis B infection, and family history of liver cancer adjusted. No statistical association was found between SNP in cytokine IL6 (rs1800796) and the susceptibility to PHC (P>0.05). Conclusion: The results indicated that people who carried CC genotype in rs1800872 of IL10 gene have an increasing risk of PHC.


Asunto(s)
Predisposición Genética a la Enfermedad , Interleucina-10/genética , Interleucina-6/genética , Neoplasias Hepáticas/genética , Polimorfismo de Nucleótido Simple , Anciano , Estudios de Casos y Controles , China , Femenino , Humanos , Masculino , Persona de Mediana Edad
10.
Eur J Neurol ; 23(8): 1289-300, 2016 08.
Artículo en Inglés | MEDLINE | ID: mdl-27160373

RESUMEN

BACKGROUND AND PURPOSE: Investigation of the relationship between mitochondrial DNA (mtDNA) variants and Parkinson disease (PD) remains an issue awaiting more supportive evidence. Moreover, an affirming cellular model study is also lacking. METHODS: The index mtDNA variants and their defining mitochondrial haplogroup were determined in 725 PD patients and 744 non-PD controls. Full-length mtDNA sequences were also conducted in 110 cases harboring various haplogroups. Cybrid cellular models, composed by fusion of mitochondria-depleted rho-zero cells and donor mitochondria, were used for a rotenone-induced PD simulation study. RESULTS: Multivariate logistic regression analysis revealed that subjects harboring the mitochondrial haplogroup B5 have resistance against PD (odds ratio 0.50, 95% confidence interval 0.32-0.78; P = 0.002). Furthermore, a composite mtDNA variant group consisting of A10398G and G8584A at the coding region was found to have resistance against PD (odds ratio 0.50, 95% confidence interval 0.33-0.78; P = 0.001). In cellular studies, B4 and B5 cybrids were selected according to their higher resistance to rotenone, in comparison with cybrids harboring other haplogroups. The B5 cybrid, containing G8584A/A10398G variants, showed more resistance to rotenone than the B4 cybrid not harboring these variants. This is supported by findings of low reactive oxygen species generation and a low apoptosis rate in the B5 cybrid, whereas a higher expression of autophagy was observed in the B4 cybrid particularly under medium dosage and longer treatment time with rotenone. CONCLUSIONS: Our studies, offering positive results from clinical investigations and cybrid experiments, provide data supporting the role of variant mtDNA in the risk of PD.


Asunto(s)
ADN Mitocondrial/genética , Variación Genética , Enfermedad de Parkinson/genética , Anciano , Femenino , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo
11.
Genet Mol Res ; 14(4): 15972-80, 2015 Dec 07.
Artículo en Inglés | MEDLINE | ID: mdl-26662389

RESUMEN

The A1298C polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene has been reported to be associated with hepatocellular carcinoma (HCC), but there are conflicting results from previous studies. The present study aimed to investigate the association between this polymorphism and the risk of HCC using a meta-analysis of the published studies. Published literature from PubMed and Embase databases was systematically searched to identify relevant studies before October 2014. The Begg test was used to measure publication bias. Sensitivity analyses were performed to ensure the authenticity of the outcome. The meta-analysis results showed significant association between the MTHFR A1298C polymorphism and HCC risk (CC vs AA: OR = 0.52, 95%CI = 0.33-0.81; CC vs AC: OR = 0.50, 95%CI = 0.32-0.79; dominant model: OR = 1.94, 95%CI = 1.24-3.02; recessive model: OR = 1.00, 95%CI = 0.84-1.18). In the subgroup analysis, significant associations between the MTHFR A1298C polymorphism and HCC risk were found in Asians (CC vs AA: OR = 0.46, 95%CI = 0.27-0.78; CC vs AC: OR = 0.41, 95%CI = 0.24-0.71; dominant model: OR = 2.27, 95%CI = 1.33-3.86; recessive model: OR = 1.03, 95%CI = 0.86-1.24). Our results suggest that the MTHFR A1298C polymorphism might be related to increased risk of HCC in Asians. Further large and well-designed studies are needed to confirm these conclusions.


Asunto(s)
Alelos , Carcinoma Hepatocelular/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Neoplasias Hepáticas/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple , Carcinoma Hepatocelular/epidemiología , Estudios de Casos y Controles , Humanos , Neoplasias Hepáticas/epidemiología , Oportunidad Relativa , Sesgo de Publicación , Riesgo
13.
Genet Mol Res ; 13(4): 10852-62, 2014 Dec 19.
Artículo en Inglés | MEDLINE | ID: mdl-25526205

RESUMEN

The early response to the dehydration 15 (ERD15) gene is widely involved in the processes of signal transduction, programmed cell death, gene transcription, and stress tolerance in plants. In a previous study, the ERD15 gene was shown to be an important regulator of the abscisic acid response and salicylic acid-dependent defense pathway, acting as an important negative regulator of abscisic acid. The complete IbERD15 gene (accession No. KF723428) was isolated by reverse transcription-polymerase chain reaction. The IbERD15 gene contains an open reading frame of 504 bp, encodes a peptide of 167 amino acids, and has a molecular mass of 18.725 kDa. The transcript levels of the IbERD15 gene in a variety of tissues were examined by digital gene expression profiling. The roots of the sweet potato were treated by 3 degrees of polyethylene glycol, and the results indicate that the IbERD15 gene might play an important role in the defense response to drought stress. Moreover, the IbERD15 gene was successfully transformed into yeast cells for analysis of drought tolerance in transgenic yeast.


Asunto(s)
Clonación Molecular/métodos , Ipomoea batatas/genética , Proteínas de Plantas/genética , Estrés Fisiológico , Perfilación de la Expresión Génica , Regulación de la Expresión Génica de las Plantas/efectos de los fármacos , Ipomoea batatas/fisiología , Filogenia , Polietilenglicoles/farmacología , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/crecimiento & desarrollo , Alineación de Secuencia , Análisis de Secuencia de ADN
14.
Eur Rev Med Pharmacol Sci ; 27(1): 122-129, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-36647859

RESUMEN

OBJECTIVE: The aim of this study is to evaluate the effects of positive intervention on the anxiety and the physiological and psychological aspects among preoperative and post-surgical patients with spinal anesthesia. PATIENTS AND METHODS: A randomized trial was conducted with an intervention group (n=58) and a control group (n=59). In the intervention group, the patients were well-informed of the details during spinal anesthesia. Multiple methods were performed to control anxiety before surgery, and nurses were not allowed to discuss the condition during surgery. Anesthesiologists were invited to visit patients to avoid excessive anxiety. RESULTS: The intervention group showed lower scores of State-Trait Anxiety Inventory (STAI) (p<0.05) than the control group 24 hours post-operation. Physiological indices such as systolic blood pressure, low frequency (LF) power, high frequency (HF) power and ration of LF/HF showed better surgery recovery (p<0.05) than the control group. The length of post-anesthesia care unit stay was also significantly shortened in the intervention group (p=0.001) compared with the control group. Positive intervention may alleviate the anxiety in surgical patients receiving spinal anesthesia and improve the physiological and psychological outcomes clinically. CONCLUSIONS: Our results provide evidence indicating that proper intervention can be promoted clinically to improve the satisfaction and quality of life of patients undergoing spinal anesthesia.


Asunto(s)
Anestesia Raquidea , Humanos , Intervención Psicosocial , Calidad de Vida , Ansiedad/prevención & control , Presión Sanguínea/fisiología
15.
Eur J Neurol ; 18(9): 1194-6, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21834905

RESUMEN

BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative diseases. Mutations in the spastin (SPG4) gene are responsible for approximately 40% of autosomal dominant HSP (AD-HSP) and 6.5-18% of sporadic cases. METHODS: Spastin mutations were screened in 11 AD-HSP families and 11 sporadic cases by direct sequencing and MLPA assay. Novel mutations were detected in 100 healthy controls by PCR-RFLP. RESULTS: We identified seven different spastin mutations in five probands and one sporadic patient. Two of seven mutations were novel. The c.458delT was a pathogenic mutation, but the effect of c.1724 G>T remained unknown. CONCLUSIONS: This study allowed us to estimate the frequency of the SPG4 mutations in Chinese at 45% (5/11) in families with AD-HSP and 9% (1/11) in sporadic cases. In addition, our data showed p.T614I was not associated with congenital arachnoid cysts.


Asunto(s)
Adenosina Trifosfatasas/genética , Pueblo Asiatico/genética , Paraplejía Espástica Hereditaria/genética , Adolescente , Adulto , Secuencia de Bases , Niño , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa Multiplex , Linaje , Polimorfismo de Longitud del Fragmento de Restricción , Espastina
16.
Acta Neurol Scand ; 124(6): 361-7, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21303351

RESUMEN

OBJECTIVES: To evaluate cognitive impairment (CI) in rural China using the Chinese version of the Mini-Mental Status Examination (CMMSE) and compare the prevalence of CI using two different cutoff points. MATERIALS & METHODS: A population-based survey was conducted of 2809 people aged 60 years and above in a community of two towns (Huaxin and Xujing) in the Qingpu district, located in the western suburb of Shanghai. Face-to-face interviews were carried out to collect relevant information with questionnaires. The Chinese version of the Mini-Mental State Examination with either a 23/24 cutoff point or a cutoff point varying according to education level (AEL) was used to screen subjects for CI. RESULTS: Among these subjects, the mean age was 70.6 years (SD = 6.6) and ranged from 60 to 92 years and included 1010 (36.0%) men and 1799 (64.0%) women. The mean age was 70.7 years (SD = 6.4) for men and 70.5 years (SD = 6.7) for women. Of the 2809 subjects, 2010 (71.5%) had no formal education, 607 (21.6%) completed 1-6 years of education, and 173 (6.2%) completed more than 6 years of school education. The prevalence of CI was 35.6% (95% CI: 33.8-37.4) for both genders when the cutoff point of 23/24 was used. However, when the cutoff point was altered with respect to different education levels, the prevalence of CI was 7.0%. For each item of the CMMSE, increased years of education correlated with a higher item score, with the exception of the 'Naming' item score. CONCLUSIONS: This study demonstrates that screening of CI using the AEL cutoff scores is feasible in a low-education population. Determining whether the 23/24 cutoff point is suitable for the Chinese people requires future prospective studies in a large Chinese population.


Asunto(s)
Trastornos del Conocimiento/epidemiología , Pruebas Neuropsicológicas , Anciano , Anciano de 80 o más Años , China/epidemiología , Escolaridad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Población Rural/estadística & datos numéricos
17.
Acta Neurol Scand ; 124(4): 264-8, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21158743

RESUMEN

OBJECTIVE - Genome-wide association study (GWAS) has identified a variant in LINGO1 (rs9652490) that increases the risk of essential tremor (ET) among Caucasians. It has been suggested that among Asians, the risk variant is relevant only for the familial forms of ET. We investigated the association of the rs9652490 variant with sporadic and familial ET in a Chinese population and conducted a pooled analysis to compare the potential differential effect between sporadic and familial ET. METHODS - rs9652490 was genotyped by direct sequencing in 117 ET and 160 controls in a Chinese population. Previous published data from another Asian population were included in the meta-analysis. RESULT - There were no significant differences in the minor allele frequency and genotype frequency between ET and controls in our Chinese population. However, in the pooled analysis involving 1201 subjects, patients with ET had a higher proportion of GG genotype compared to controls. Logistic regression analysis revealed that G allele increased the risk of ET via a recessive model. In both familial ET and sporadic ET, the G allele increased the risk via a recessive model. CONCLUSION - While we could not demonstrate a significant association of the rs9652490 variant in our own study, pooled analysis of a much larger cohort revealed for the first time that the variant increased the risk in both familial and sporadic forms of ET among Asians, though the effect was stronger in familial ET.


Asunto(s)
Pueblo Asiatico/genética , Temblor Esencial/etnología , Temblor Esencial/genética , Predisposición Genética a la Enfermedad , Proteínas de la Membrana/genética , Proteínas del Tejido Nervioso/genética , Anciano , Anciano de 80 o más Años , Alelos , Estudios de Casos y Controles , Femenino , Pool de Genes , Estudio de Asociación del Genoma Completo , Genotipo , Hospitales de Enseñanza , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple/genética , Vigilancia de la Población , Riesgo
18.
J Med Genet ; 47(11): 723-8, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20837494

RESUMEN

BACKGROUND: A T-to-C transition at mitochondrial DNA (mtDNA) nucleotide position 16189 can generate a variable length polycytosine tract (poly-C). This tract variance has been associated with disease. A suggested pathogenesis is that it interferes with the replication process of mtDNA, which in turn decreases the mtDNA copy number and generates disease. METHODS: In this study, 837 healthy adults' blood samples were collected and determined for their mtDNA D-loop sequence. The mtDNA copy number in the leucocytes and serum levels of oxidative thiobarbituric acid reactive substance (TBARS) and antioxidative thiols were measured. All subjects were then categorised into three groups: wild type or variant mtDNA with presence of an interrupted/uninterrupted poly-C at 16180-16195 segment. RESULTS: A step-wise multiple linear regression analysis identified factors affecting expression of mtDNA copy number including TBARS, thiols, age, body mass index and the mtDNA poly-C variant. Subjects harbouring a variant uninterrupted poly-C showed lowest mean (SD) mtDNA copy number (330 (178)), whereas an increased copy number was noted in subjects harbouring variant, interrupted poly-C (420 (273)) in comparison with wild type (358 (215)). The difference between the three groups and between the uninterrupted poly-C and the composite data from the interrupted poly-C and wild type remained consistent after adjustment for TBARS, thiols, age and body mass index (p=0.001 and p=0.011, respectively). A trend for decreased mtDNA copy number in association with increased number of continuous cytosine within the 16180-16195 segment was noted (p(trend)<0.006). CONCLUSIONS: Our results substantiate a previous suggestion that the mtDNA 16189 variant can cause alteration of mtDNA copy number in human blood cells.


Asunto(s)
ADN Mitocondrial/genética , Dosificación de Gen , Variación Genética/genética , Poli C/genética , Adulto , Anciano , ADN Mitocondrial/sangre , ADN Mitocondrial/química , Femenino , Humanos , Leucocitos/metabolismo , Modelos Lineales , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADN , Compuestos de Sulfhidrilo/sangre , Sustancias Reactivas al Ácido Tiobarbitúrico/metabolismo
19.
Neuropathol Appl Neurobiol ; 36(4): 312-9, 2010 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-20102518

RESUMEN

AIM: To determine the pathological structures associated with macroautophagy in Alzheimer's disease (AD) and any relationship to disease progression. METHODS: Immunohistochemistry using antibodies to beclin-1, Atg5 and Atg12, early macroautophagy markers and LC3, the mammalian homologue of the later macroautophagy marker Atg8, were localized in formalin-fixed, paraffin-embedded medial temporal lobe sections of AD cases at variable neuritic disease stages. Double immunofluorescence labelling was used to co-localize these macroautophagy markers with Abeta and phospho-tau (AT8) and correlations performed using Spearman rank tests. RESULTS: Atg12 immunoreactivity in AD was either dispersed in the soma and dendrites or concentrated in tau-immunoreactive dystrophic neurites and some neurofibrillary tangles. Fewer Atg12-immunopositive neurones were observed with longer disease durations. Atg12-immunoreactive endothelial cells were found spatially associated with Abeta-positive plaques, with more Atg12-immunoreactive capillary endothelial cells with higher neuritic disease stage. These findings were confirmed by the other autophagy markers beclin-1, Atg5 and LC3. CONCLUSION: The data confirm that macroautophagy occurs in neurones undergoing neuritic degeneration in AD, identified early macroautophagy markers in capillary endothelial cells in close proximity to Abeta plaques, and found that evidence for macroautophagy changes with disease progression.


Asunto(s)
Enfermedad de Alzheimer/metabolismo , Autofagia/fisiología , Células Endoteliales/metabolismo , Neuronas/metabolismo , Lóbulo Temporal/metabolismo , Anciano , Anciano de 80 o más Años , Enfermedad de Alzheimer/patología , Estudios de Casos y Controles , Progresión de la Enfermedad , Células Endoteliales/patología , Femenino , Técnica del Anticuerpo Fluorescente , Humanos , Inmunohistoquímica , Masculino , Ovillos Neurofibrilares/metabolismo , Ovillos Neurofibrilares/patología , Neuronas/patología , Placa Amiloide/metabolismo , Placa Amiloide/patología , Índice de Severidad de la Enfermedad , Lóbulo Temporal/irrigación sanguínea , Lóbulo Temporal/patología
20.
J Fish Dis ; 32(4): 301-10, 2009 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19335609

RESUMEN

An epizootic in pond cultured three striped tigerfish, Terapon jarbua, in Taiwan was caused by Nocardia seriolae. Diseased fish first showed clinical signs and mortalities in February and March 2003. The cumulative mortality within 2 months was 2.4% (1200 of 50 000) and affected fish were 7 months old with total lengths from 18 to 25 cm. Most affected fish were pale and lethargic with haemorrhages and ulcers on the skin. The most significant gross pathological changes were varying degrees of ascites and enlargement of the spleen, kidney and liver. Obvious white nodules, varying in size, were found in these organs. Bacteria were either coccal or filamentous in appearance, with bead-like forms. Isolates from diseased fish were characterized using the API ZYM (Analytical profile index; Bio Mérieux, France) systems and conventional tests and identified as Nocardia sp. The isolate was designated NS127 and was confirmed as N. seriolae by a polymerase chain reaction assay that gave the expected specific 432 bp amplicon. In addition, its 16S rDNA sequence gave 100% sequence identity with N. seriolae. A partial sequence of the 16S rRNA gene, heat shock protein gene and RNA polymerase gene (rpo B) of NS127 and the type strain of N. seriolae BCRC 13745 formed a monophyletic clade with a high sequence similarity and bootstrap value of 99.9%. White nodules induced in experimental fish were similar to naturally infected cases and N. seriolae was re-isolated on brain heart infusion agar. This is the first report of N. seriolae-infection in three striped tigerfish in aquaculture.


Asunto(s)
Enfermedades de los Peces/microbiología , Nocardiosis/veterinaria , Nocardia/fisiología , Perciformes/microbiología , Animales , Enfermedades de los Peces/mortalidad , Enfermedades de los Peces/patología , Proteínas de Choque Térmico/genética , Datos de Secuencia Molecular , Nocardia/clasificación , Nocardia/genética , Nocardia/aislamiento & purificación , Nocardiosis/mortalidad , Nocardiosis/patología , Filogenia , ARN Polimerasa II/genética , ARN Ribosómico 16S/genética
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