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1.
Contemp Nurse ; 59(4-5): 344-361, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37540738

RESUMEN

BACKGROUND: As Artificial Intelligence and social robots are increasingly used in health and social care, it is imperative to explore the training needs of the workforce, factoring in their cultural background. OBJECTIVES: Explore views on perceived training needs among professionals around the world and how these related to country cultures. DESIGN: Cross-sectional, descriptive, mixed-methods international online survey. METHODS: Descriptive statistical analysis explored the ranking across countries and relationships with three Hofstede cultural dimensions. Thematic analysis was conducted on the open-ended text responses. RESULTS: A sample of N = 1284 participants from eighteen countries. Knowing the capabilities of the robots was ranked as the top training need across all participating countries and this was also reflected in the thematic analysis. Participants' culture, expressed through three Hofstede's dimensions, revealed statistically significant ranking differences. CONCLUSIONS: Future research should further explore other factors such as the level of digital maturity of the workplace. IMPACT STATEMENT: Training needs of health and social care staff to use robotics are fast growing and preparation should factor in patient safety and be based on the principles of person- and culture-centred care.


Asunto(s)
Robótica , Humanos , Inteligencia Artificial , Estudios Transversales , Personal de Salud , Cultura
2.
J Prev Alzheimers Dis ; 8(4): 477-482, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34585223

RESUMEN

BACKGROUND: Recent biomarker studies demonstrated that the central nervous system (CNS) environment can be observed from peripherally-derived samples. In a previous study, we demonstrated significant hypomethylation of the BRCA1 promoter region in neuronal cells from post-mortem brains of Alzheimer's disease patients through neuron-specific methylome analysis. Thus, we investigate the methylation changes in the BRCA1 promoter region in the blood samples. OBJECTIVES: To analyze the methylation level of the BRCA1 promoter in peripheral blood from AD patients and normal controls. DESIGN, SETTING, PARTICIPANTS: Genomic DNA samples from peripheral blood were obtained from the J-ADNI repository, and their biomarker data were obtained J-ADNI from the National Bioscience Database Center. Genomic DNA samples from an independent cohort for validation was obtained from Niigata University Hospital (Niigata, Japan). Amyloid positivity was defied by visual inspection of amyloid PET or a CSF Aß42 value ≤ 333 pg/mL at the baseline. MEASUREMENTS: Methylation level of the BRCA1 promoter was analyzed by pyrosequencing. RESULTS: Compared to normal controls, methylation of the BRCA1 promoter in AD patients was not significantly changed; however, in AD patients, it showed a positive correlation with AD risk factors. CONCLUSIONS: Our data confirmed the importance of cell-type specific methylome analysis and also suggested that environmental changes in the CNS can be detected by observing the peripheral blood, implying that the peripheral BRCA1 methylation level can be a surrogate for AD.


Asunto(s)
Enfermedad de Alzheimer/sangre , Enfermedad de Alzheimer/genética , Proteína BRCA1/genética , Metilación de ADN , Regiones Promotoras Genéticas , Anciano , Enfermedad de Alzheimer/líquido cefalorraquídeo , Amiloide , Biomarcadores/sangre , Biomarcadores/líquido cefalorraquídeo , Femenino , Humanos , Japón , Masculino , Tomografía de Emisión de Positrones , Factores de Riesgo
3.
J Prev Alzheimers Dis ; 8(4): 503-512, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34585226

RESUMEN

BACKGROUND: Models that can predict brain amyloid beta (Aß) status more accurately have been desired to identify participants for clinical trials of preclinical Alzheimer's disease (AD). However, potential heterogeneity between different cohorts and the limited cohort size have been the reasons preventing the development of reliable models applicable to the Asian population, including Japan. OBJECTIVES: We aim to propose a novel approach to predict preclinical AD while overcoming these constraints, by building models specifically optimized for ADNI or for J-ADNI, based on the larger samples from A4 study data. DESIGN AND PARTICIPANTS: This is a retrospective study including cognitive normal participants (CDR-global = 0) from A4 study, Alzheimer Disease Neuroimaging Initiative (ADNI), and Japanese-ADNI (J-ADNI) cohorts. MEASUREMENTS: The model is made up of age, sex, education years, history of AD, Clinical Dementia Rating-Sum of Boxes, Preclinical Alzheimer Cognitive Composite score, and APOE genotype, to predict the degree of amyloid accumulation in amyloid PET as Standardized Uptake Value ratio (SUVr). The model was at first built based on A4 data, and we can choose at which SUVr threshold configuration the A4-based model may achieve the best performance area under the curve (AUC) when applied to the random-split half ADNI or J-ADNI subset. We then evaluated whether the selected model may also achieve better performance in the remaining ADNI or J-ADNI subsets. RESULT: When compared to the results without optimization, this procedure showed efficacy of AUC improvement of up to approximately 0.10 when applied to the models "without APOE;" the degree of AUC improvement was larger in the ADNI cohort than in the J-ADNI cohort. CONCLUSIONS: The obtained AUC had improved mildly when compared to the AUC in case of literature-based predetermined SUVr threshold configuration. This means our procedure allowed us to predict preclinical AD among ADNI or J-ADNI second-half samples with slightly better predictive performance. Our optimizing method may be practically useful in the middle of the ongoing clinical study of preclinical AD, as a screening to further increase the prior probability of preclinical AD before amyloid testing.


Asunto(s)
Enfermedad de Alzheimer , Pruebas de Estado Mental y Demencia/estadística & datos numéricos , Síntomas Prodrómicos , Anciano , Encéfalo , Femenino , Humanos , Japón , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Neuroimagen , Estudios Retrospectivos , Estados Unidos
5.
Science ; 368(6486): 67-71, 2020 04 03.
Artículo en Inglés | MEDLINE | ID: mdl-32193363

RESUMEN

The Hayabusa2 spacecraft investigated the small asteroid Ryugu, which has a rubble-pile structure. We describe an impact experiment on Ryugu using Hayabusa2's Small Carry-on Impactor. The impact produced an artificial crater with a diameter >10 meters, which has a semicircular shape, an elevated rim, and a central pit. Images of the impact and resulting ejecta were recorded by the Deployable CAMera 3 for >8 minutes, showing the growth of an ejecta curtain (the outer edge of the ejecta) and deposition of ejecta onto the surface. The ejecta curtain was asymmetric and heterogeneous and it never fully detached from the surface. The crater formed in the gravity-dominated regime; in other words, crater growth was limited by gravity not surface strength. We discuss implications for Ryugu's surface age.

7.
Waste Manag ; 74: 168-176, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29326005

RESUMEN

Although combination of denitritation and methanogenesis for wastewater treatment has been widely investigated, an application of this technology to solid waste treatment has been rarely studied. This study investigated an anaerobic-aerobic batch system with simultaneous denitritation-methanogenesis as an effective treatment for marine biofoulings, which is a major source of intermittently discharged organic solid wastes. Preliminary NO2--exposed sludge was inoculated to achieve stable methanogenesis process without NO2- inhibition. Both high NH4+-N removal of 99.5% and high NO2--N accumulation of 96.4% were achieved on average during the nitritation step. Sufficient CH4 recovery of 101 L-CH4 kg-COD-1 was achieved, indicating that the use of NO2--exposed sludge is effective to avoid NO2- inhibition on methanogenesis. Methanogenesis was the main COD utilization pathway when the substrate solubilization occurred actively, while denitritation was the main when solubilization was limited because of substrate shortage. The results showed a high COD removal efficiency of 96.0% and a relatively low nitrogen removal efficiency of 64.4%. Fitting equations were developed to optimize the effluent exchange ratio. The estimated results showed that the increase of effluent exchange ratio during the active solubilization period increased the nitrogen removal efficiency but decreased CH4 content in biogas. An appropriate effluent exchange ratio with high anaerobic effluent quality below approximately 120 mg-N L-1 as well as sufficient CH4 gas quality which can be used as fuel for gas engine generator was achieved by daily effluent exchange of 80% during the first week and 5% during the subsequent 8 days.


Asunto(s)
Incrustaciones Biológicas , Eliminación de Residuos Líquidos , Reactores Biológicos , Desnitrificación , Nitrógeno , Aguas del Alcantarillado
9.
J Neurophysiol ; 116(5): 2152-2162, 2016 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-27559139

RESUMEN

Previous neurophysiological studies performed in macaque monkeys have revealed complex somatosensory responses in the secondary somatosensory area (SII), such as large receptive fields (RFs), as well as bilateral ones. However, systematic analyses of neurons with large RFs have not been performed. In the present study, we recorded single-unit activities in SII of awake macaque monkeys to investigate systematically large RFs by dividing the whole body into four body regions (head, trunk, forelimb, and hindlimb). Recorded neurons were classified into two types, according to whether the RFs were confined to one body region: single (n = 817) and combined (n = 282) body-region types. These two types were distinct in terms of the percentage of bilateral RFs: 55% in the single-region type and 90% in the combined type, demonstrating that two types of RF enlargement occur simultaneously in the combined type, namely, RF convergence from different body regions and RF convergence from both hemibodies. Among the combined-type RFs, two tendencies of RF convergence were found: 1) the distal parts of the limbs (i.e., hand and foot) and the mouth are interconnected, and 2) the trunk RFs extend continuously toward the distal parts of the limb and head to cover the entire body surface. Our distribution analysis on unfolded maps clarified that neurons having RFs with these two tendencies were distributed within specific subregions in SII.


Asunto(s)
Mapeo Encefálico/métodos , Neuronas/fisiología , Corteza Somatosensorial/fisiología , Animales , Electrodos Implantados , Miembro Anterior/fisiología , Cabeza/fisiología , Miembro Posterior/fisiología , Macaca , Masculino , Estimulación Física/métodos , Torso/fisiología
10.
Zookeys ; (605): 37-52, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27551211

RESUMEN

A new species of Leptostraca, Nebalia terazakii sp. n. is described and figured. The species was sampled from the coral reefs of Pulau Payar Marine Park, Langkawi, Malaysia. There are 32 existing species of Nebalia but Nebalia terazakii sp. n. can be distinguished from the other known species of Nebalia by the following combination of characters: the rostrum is 1.89 times as long as wide and the eyes have no dorsal papilla or lobes. Article 4 of the antennular peduncle has one short thick distal spine. The proximal article of the endopod of maxilla 2 is shorter than the distal, a feature peculiar to Nebalia terazakii sp. n., the exopod of maxilla 2 is longer than article 1 of the endopod, the posterior dorsal borders of the pleonites 6 to 7 are provided with distally sharp denticles, anal plate with prominent lateral shoulder and finally, the terminal seta of the caudal rami is 1.17 times the length of the entire rami.

11.
Mymensingh Med J ; 24(1): 44-51, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25725667

RESUMEN

This study was conducted to find out Spinocerebellar Ataxias (SCA) by genetic analysis from those patients presenting with Parkinsonism in the Neurology department of Mymensingh Medical College Hospital, Bangladesh. A sample of about 5ml blood was collected by venipuncture in EDTA tube after having informed consent from each patients and healthy individual, with due Institutional Ethical committee approval for genetic study of 7 healthy people and 9 patients. The neurological disorder along with a complete physical and/or psychological, as well as family history and demographic data was recorded with a prescribed questionnaire by the neurologists of Mymensingh Medical College Hospital. Extraction of genomic DNA from the venous blood using Flexi Gene DNA kit (Qiagen, Japan) was performed in Faculty of Veterinary Science, Bangladesh Agricultural University, Mymensingh, Bangladesh. The extracted DNA was stored, accumulated and then were sent to Division of Clinical Genetics, Department of Medical Genetics, Osaka University Medical School, Suita, Osaka 565 0871, Japan for PCR and further analysis. PCR amplification of the CAG repeat was performed for the SCA1, SCA2, SCA3, SCA6 loci using primers SCA1N-F1 and SCA1N-R1, SCA2-F1 and SCA2-R1, MJDF1 and MJDR1, SCA6-F1 and SCA6-R1, respectively. SCA1 PCR of both healthy individual and suspected Parkinsons Disease (PD) patients DNA was found 250 bp (no. of CAG repeats=36). SCA2 PCR products reveal the DNA products of about 150 bp (no. of CAG repeats=23) except one patient that was suspected and it was sequenced and revealed 175bp (no. of CAG repeats=30). SCA3 PCR product size of both healthy individual and patient DNA was within 250 (no. of CAG repeats=11) to 300 bp (no. of CAG repeats=28) except one patient which was about 320 bp and its CAG repeats was about 34. SCA6 PCR product size of both healthy individual and patient DNA was about 150 bp (no. of CAG repeats=16).


Asunto(s)
Pruebas Genéticas , Enfermedad de Parkinson/genética , Ataxias Espinocerebelosas/genética , Ataxina-3 , Ataxinas , Canales de Calcio/genética , Diagnóstico Diferencial , Humanos , Proteínas del Tejido Nervioso/genética , Proteínas Nucleares/genética , Proteínas Represoras/genética , Repeticiones de Trinucleótidos
12.
Free Radic Res ; 48(12): 1409-16, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25179439

RESUMEN

We here described the antioxidant effects of carnitine supplementation on 14-3-3 protein isoforms in the aged rat hippocampus detected using the fully automated two-dimensional chip gel electrophoresis system (Auto2D). This system was easy and convenient to use, and the resolution obtained was more sensitive and higher than that of conventional two-dimensional polyacrylamide gel electrophoresis (2-D PAGE). We separated and identified five isoforms of the 14-3-3 protein (beta/alpha, gamma, epsilon, zeta/delta, and eta) using the Auto2D system. We then examined the antioxidant effects of carnitine supplementation on the protein profiles of the cytosolic fraction in the aged rat hippocampus, demonstrating that carnitine supplementation suppressed the oxidation of methionine residues in these isoforms. Since methionine residues are easily oxidized to methionine sulfoxide, the convenient and high-resolution 2-D PAGE system can be available to analyze methionine oxidation avoiding artifactual oxidation. We showed here that the Auto2D system was a very useful tool for studying antioxidant effects through proteomic analysis of protein oxidation.


Asunto(s)
Proteínas 14-3-3/metabolismo , Envejecimiento , Antioxidantes/farmacología , Carnitina/farmacología , Hipocampo/metabolismo , Proteínas 14-3-3/química , Animales , Automatización , Electroforesis en Gel Bidimensional , Masculino , Isoformas de Proteínas/química , Isoformas de Proteínas/metabolismo , Proteómica , Ratas , Ratas Endogámicas F344
13.
Cell Death Dis ; 5: e1007, 2014 Jan 16.
Artículo en Inglés | MEDLINE | ID: mdl-24434515

RESUMEN

Abnormal reflexes associated with spasticity are considered a major determinant of motor impairments occurring after stroke; however, the mechanisms underlying post-stroke spasticity remain unclear. This may be because of the lack of suitable rodent models for studying spasticity after cortical injuries. Thus, the purpose of the present study was to establish an appropriate post-stroke spasticity mouse model. We induced photothrombotic injury in the rostral and caudal forelimb motor areas of mice and used the rate-dependent depression (RDD) of Hoffmann's reflex (H-reflex) as an indicator of spastic symptoms. To detect motoneuron excitability, we examined c-fos mRNA levels and c-Fos immunoreactivity in affected motoneurons using quantitative real-time reverse transcription PCR and immunohistochemical analysis, respectively. To confirm the validity of our model, we confirmed the effect of the anti-spasticity drug baclofen on H-reflex RDDs 1 week post stroke. We found that 3 days after stroke, the RDD was significantly weakened in the affected muscles of stroke mice compared with sham-operated mice, and this was observed for 8 weeks. The c-fos mRNA levels in affected motoneurons were significantly increased in stroke mice compared with sham-operated mice. Immunohistochemical analysis revealed a significant increase in the number of c-Fos-positive motoneurons in stroke mice compared with sham-operated mice at 1, 2, 4, and 8 weeks after stroke; however, the number of c-Fos-positive motoneurons on both sides of the brain gradually decreased over time. Baclofen treatment resulted in recovery of the weakened RDD at 1 week post stroke. Our findings suggest that this is a viable animal model of post-stroke spasticity.


Asunto(s)
Infarto Cerebral/complicaciones , Neuronas Motoras/fisiología , Debilidad Muscular/fisiopatología , Reflejo Anormal , Animales , Baclofeno/administración & dosificación , Modelos Animales de Enfermedad , Humanos , Masculino , Ratones , Ratones Endogámicos C57BL , Neuronas Motoras/química , Neuronas Motoras/efectos de los fármacos , Debilidad Muscular/tratamiento farmacológico , Debilidad Muscular/etiología , Proteínas Proto-Oncogénicas c-fos/genética , Proteínas Proto-Oncogénicas c-fos/metabolismo
14.
Benef Microbes ; 4(2): 187-93, 2013 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-23271065

RESUMEN

The intestinal microbiota composition of 92 volunteers living in Japan was identified following the consumption of 'identical meals' (1,879 kcal/day) for 3 days. When faecal samples were analysed by terminal restriction fragment length polymorphism with several primer-restriction enzyme systems and then clustered, the patterns could be divided into 2 clusters. Contribution tests and partition modelling showed that OTU211 of the 35f-MspI system and OTU237 of the 35f-AluI system were key factors in the distribution of these groups. However, significant differences among these groups in terms of body mass index and age were not observed.


Asunto(s)
Biodiversidad , Ingestión de Alimentos , Comidas , Metagenoma/efectos de los fármacos , Adulto , Análisis por Conglomerados , Dermatoglifia del ADN , Heces/microbiología , Experimentación Humana , Humanos , Japón , Masculino , Persona de Mediana Edad , Polimorfismo de Longitud del Fragmento de Restricción , Adulto Joven
15.
Arch Virol ; 158(1): 201-6, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22965580

RESUMEN

A quasi-spherical virus was isolated from a cultivated Amazon lily plant (Eucharis grandiflora) that could be mechanically transmitted to healthy E. grandiflora plants, subsequently producing mild mosaic or mottle symptoms on the leaves. The purified virus consisted of three quasi-spherical particles about 20 nm wide and 70, 40 and 30 nm in length, containing three segmented genomes of 3,169, 2,507 and 2,530 nucleotides, respectively. Sequence analysis showed that the newly isolated virus is related to pelargonium zonate spot virus, a member of the genus Anulavirus. We propose that the virus should be designated as Amazon lily mild mottle virus (ALiMMV).


Asunto(s)
Bromoviridae/genética , Bromoviridae/aislamiento & purificación , Lilium/virología , Enfermedades de las Plantas/virología , Bromoviridae/clasificación , Genoma Viral , Datos de Secuencia Molecular , Filogenia , Hojas de la Planta/virología
16.
J Environ Manage ; 110: 267-75, 2012 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-22813759

RESUMEN

Seasonal variations in the physical and chemical characteristics of leachate taken from Benowo landfill in Indonesia, including factors likely to inhibit anaerobic digestion, were investigated to determine the impacts on the stability of anaerobic treatment. To evaluate the biodegradability of the leachate, a continuous experiment was conducted by changing the organic loading rate (OLR). Chemical oxygen demand (COD) ranged between 2621 and 16,832 mg L(-1), and COD in the dry season was twice the level in the rainy season owing to reduced rainwater input and significant evaporation. COD, pH, and the concentrations of ammonium ion, and metals in the leachate were within acceptable ranges for decomposition by anaerobic digestion. However, the Na(+) and Cl(-) in the leachate are high enough to inhibit anaerobic digestion. From chemical investigation of leachate at six monitoring wells in Benowo, food waste accumulation and seawater intrusion might cause high salinity in the leachate. In the continuous experiment, COD removal efficiency was maintained at 40% regardless of OLR, suggesting that at least 40% of the leachate contained biodegradable substances. Based on these results, issues surrounding the biological treatment of saline and refractory substances in landfill leachate were discussed. It is suggested that high salinity and refractory substances in the leachate are common issues during the leachate treatment by anaerobic digestion as the implications for similar landfills in other countries around the world.


Asunto(s)
Bacterias Anaerobias/metabolismo , Reactores Biológicos/microbiología , Eliminación de Residuos , Contaminantes Químicos del Agua/metabolismo , Anaerobiosis , Biodegradación Ambiental , Cromatografía de Gases , Indonesia , Estaciones del Año , Clima Tropical , Contaminantes Químicos del Agua/química
17.
Lett Appl Microbiol ; 55(2): 135-40, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22642647

RESUMEN

AIMS: To evaluate the protective effects of oral administration of milk fermented with a Lactococcus strain against influenza virus (IFV) infection in a mouse model. METHODS AND RESULTS: Milk fermented with exopolysaccharide-producing Lactococcus lactis subsp. cremoris (L. cremoris) FC was orally administered to BALB/c mice for 12 days. Mice were intranasally infected with IFV A/New Caledonia/20/99 (H1N1) on day 8, and survival was determined for 14 days after IFV infection. Survival rate and body weight loss after IFV infection in the L. cremoris FC fermented milk-administered group were significantly improved compared with those in the control group. In the unfermented milk-administered group, survival rate was not improved, whereas body weight loss was slightly improved compared with that in the control group. The mean virus titre in the lung of the L. cremoris FC fermented milk-administered group 3 days after infection was significantly decreased compared with that in the control group. CONCLUSIONS: These results suggest that oral administration of milk fermented with L. cremoris FC protects mice against IFV infection. SIGNIFICANCE AND IMPACT OF THE STUDY: These results demonstrate that oral administration of milk fermented with exopolysaccharide-producing Lactococcus strains might protect host animals against IFV infection.


Asunto(s)
Subtipo H1N1 del Virus de la Influenza A , Lactococcus lactis/metabolismo , Leche , Infecciones por Orthomyxoviridae/inmunología , Probióticos/administración & dosificación , Administración Oral , Animales , Femenino , Fermentación , Pulmón/patología , Pulmón/virología , Ratones , Ratones Endogámicos BALB C , Leche/metabolismo , Leche/microbiología , Tasa de Supervivencia
18.
Plant Dis ; 96(4): 515-521, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30727415

RESUMEN

A polymerase chain reaction (PCR)-based molecular method to detect Phomopsis sclerotioides in soil was developed using a species-specific primer pair. To improve sensitivity of the detection, three PCR techniques were used; namely, nested PCR using the primer pair internal transcribed spacer (ITS)1 and ITS4, time-release PCR using two different DNA polymerases (recombinant Taq and AmpliTaq Gold), and fluorescent PCR to obtain fluorescent-labeled PCR products that can be analyzed by capillary electrophoresis. The latter two techniques were combined and termed nested time-release fluorescent (NTRF)-PCR. The minimum concentration of DNA required to obtain species-specific PCR products successfully was 50 fg/µg. Using the NTRF-PCR method, the fungus could be detected in sandy soil that was artificially infested at a density of 10 CFU/g. The pathogen was detected in most soil samples collected from commercial cucumber fields in which visual disease symptoms had appeared, and even in samples collected from fields where visual disease symptoms had not appeared. To prevent the invasion and establishment of root-inhabiting pathogens such as P. sclerotioides, it is critical to detect the fungus in soil as soon as possible after its introduction into a cucumber-growing region.

19.
Mymensingh Med J ; 19(4): 510-4, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20956890

RESUMEN

The study was conducted to find out Huntington's disease (HD) by genetic analysis from those presenting with parkinsonism in the Neurology department of Mymensingh Medical College & Hospital. A sample of about 5ml blood was collected by veni puncture in EDTA tube with informed consent from 9 patients & 7 healthy individuals after approval of the institutional ethics committee for genetic study. The neurological disorder along with a complete history and physical findings were recorded in a prescribed questionnaire by the neurologists of Mymensingh Medical College & Hospital. Extraction of genomic DNA from the venous blood using FlexiGene DNA kit (Qiagen, Japan) was performed in Faculty of Veterinary Science, Bangladesh Agricultural University, Mymensingh, Bangladesh. The extracted DNA was stored and accumulated and then these DNA were sent to Division of Clinical Genetics, Department of Medical Genetics, Osaka University Medical School, Suita, Osaka 565 0871, Japan for PCR and further analysis. PCR amplification of the CAG repeat in the 1T15 gene was performed with primers HD1 and HD3. HD PCR products revealed the DNA product of about 110bp (no. of CAG repeats=21) to 150bp (no. of CAG repeats=34) in both healthy individual and suspected PD patient DNA.


Asunto(s)
Pruebas Genéticas , Enfermedad de Huntington/genética , Trastornos Parkinsonianos/genética , Humanos , Reacción en Cadena de la Polimerasa , Repeticiones de Trinucleótidos
20.
Neurology ; 75(6): 508-12, 2010 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-20697102

RESUMEN

OBJECTIVE: A genome-wide association study (GWAS) in the Japanese population identified 2 new Parkinson disease (PD) susceptibility loci on 1q32 (PARK16) (OMIM 613164) and BST1. We analyzed single nucleotide polymorphism (SNPs) located at the GWAS-linked loci (PARK16, PARK8, PARK1, and BST1) in a Chinese population and also conducted a meta-analysis in Asians by pooling 2 independent replication studies from Japan. METHODS: We conducted an analysis of 13 SNPs associated with PD GWAS-linked loci in 2 case-control cohorts comprised of 1,349 ethnic Chinese subjects. RESULTS: PARK16, PARK8, and PARK1 loci but not BST1 were found to be associated with PD. PARK16 SNPs were associated with a decreased risk while PARK1 and PARK8 SNPs were associated with an increased risk of PD. A pooled analysis of our Chinese cohorts and 2 Japanese replication cohorts involving 1,366 subjects with PD and 16,669 controls revealed robust association with these 3 loci and also BST1. There was a trend toward a stronger protective effect of SNPs at the PARK16 locus in sporadic PD compared to familial cases and in older compared to younger subjects. CONCLUSIONS: Our study reaffirms the role of GWAS-linked loci in PD in Asian subjects and the strength of association is similar between Chinese and Japanese subjects. Efforts to elucidate the associated gene within PARK16 locus are warranted.


Asunto(s)
Sitios Genéticos/genética , Predisposición Genética a la Enfermedad/genética , Estudio de Asociación del Genoma Completo/métodos , Enfermedad de Parkinson/genética , ADP-Ribosil Ciclasa/genética , Antígenos CD/genética , Pueblo Asiatico/genética , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Proteínas Ligadas a GPI , Humanos , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/diagnóstico , Polimorfismo de Nucleótido Simple/genética , Proteínas Serina-Treonina Quinasas/genética , alfa-Sinucleína/genética
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