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1.
Genet Mol Res ; 5(4): 696-712, 2006 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-17183480

RESUMEN

To study rapidly evolving male specific Y (MSY) genes we retrieved and analyzed nine such genes. VCY, HSFY and RBMY were found to have functional X gametologs, but the rest did not. Using chimpanzee orthologs for XKRY, CDY, HSFY, PRY, and TSPY, the average silent substitution is estimated as 0.017 +/- 0.006/site and the substitution rate is 1.42 x 10(-9)/site/year. Except for VCY, all other loci possess two or more pseudogenes on the Y chromosome. Sequence differences from functional genes show that BPY2, DAZ, XKRY, and RBMY each have one pseudogene for each one that is human specific, while others were generated well before the human-chimpanzee split, by means of duplication, retro-transposition or translocation. Some functional MSY gene duplication of VCY, CDY and HSFY, as well as X-linked VCX and HSFX duplication, occurred in the lineage leading to humans; these duplicates have accumulated nucleotide substitutions that permit their identification.


Asunto(s)
Evolución Molecular , Seudogenes/genética , Caracteres Sexuales , Cromosoma Y/genética , Animales , Proteínas de Unión al ADN/genética , Factores de Transcripción del Choque Térmico , Humanos , Masculino , Proteínas Nucleares/genética , Pan troglodytes , Proteínas de Unión al ARN/genética , Factores de Transcripción/genética
2.
Genet. mol. res. (Online) ; 5(4): 696-712, 2006. tab, ilus
Artículo en Inglés | LILACS | ID: lil-482086

RESUMEN

To study rapidly evolving male specific Y (MSY) genes we retrieved and analyzed nine such genes. VCY, HSFY and RBMY were found to have functional X gametologs, but the rest did not. Using chimpanzee orthologs for XKRY, CDY, HSFY, PRY, and TSPY, the average silent substitution is estimated as 0.017 +/- 0.006/site and the substitution rate is 1.42 x 10(-9)/site/year. Except for VCY, all other loci possess two or more pseudogenes on the Y chromosome. Sequence differences from functional genes show that BPY2, DAZ, XKRY, and RBMY each have one pseudogene for each one that is human specific, while others were generated well before the human-chimpanzee split, by means of duplication, retro-transposition or translocation. Some functional MSY gene duplication of VCY, CDY and HSFY, as well as X-linked VCX and HSFX duplication, occurred in the lineage leading to humans; these duplicates have accumulated nucleotide substitutions that permit their identification.


Asunto(s)
Masculino , Animales , Humanos , Cromosoma Y/genética , Evolución Molecular , Seudogenes/genética , Caracteres Sexuales , Factores de Transcripción/genética , Pan troglodytes , Proteínas Nucleares/genética , Proteínas de Unión al ADN/genética , Proteínas de Unión al ARN
3.
Int J Clin Pract ; 57(2): 103-5, 2003 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-12661792

RESUMEN

Medicinal leeches (Hirudo medicinalis) have been used in medicine for thousands of years to treat a wide range of ailments. Nowadays, leeches are used successfully for only a few conditions, notably in the field of reconstructive or microsurgery, to salvage tissue flaps and skin grafts whose viability is threatened by venous congestion. The anticoagulant properties of hirudin, contained in leech saliva, may lead to wider therapeutic applications in the prevention and treatment of thromboembolic disease. Optimal care is needed when applying leeches, because their use can be complicated by serious bacterial infections.


Asunto(s)
Sanguijuelas , Aplicación de Sanguijuelas/métodos , Terapia Recuperativa/métodos , Animales , Predicción , Terapia con Hirudina , Humanos , Aplicación de Sanguijuelas/efectos adversos , Aplicación de Sanguijuelas/tendencias , Sepsis/microbiología , Tromboembolia/prevención & control
5.
Postgrad Med J ; 78(916): 71-5, 2002 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-11807186

RESUMEN

Chronic subdural haematoma is predominantly a disease of the elderly. It usually follows a minor trauma. A history of direct trauma to the head is absent in up to half the cases. The common manifestations are altered mental state and focal neurological deficit. Neurological state at the time of diagnosis is the most important prognostic factor. Morbidity and mortality is higher in the elderly but outcome is good in patients who undergo neurosurgical intervention.


Asunto(s)
Hematoma Subdural Crónico , Accidentes por Caídas , Factores de Edad , Anciano , Encéfalo/diagnóstico por imagen , Traumatismos Craneocerebrales/complicaciones , Epilepsia/etiología , Hematoma Subdural Crónico/diagnóstico , Hematoma Subdural Crónico/etiología , Hematoma Subdural Crónico/cirugía , Humanos , Neumocéfalo/etiología , Complicaciones Posoperatorias , Pronóstico , Recurrencia , Factores de Riesgo , Tomografía Computarizada por Rayos X
6.
Age Ageing ; 28(2): 99-102, 1999 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-10350403

RESUMEN

OBJECTIVES: to study the diagnostic accuracy for parkinsonism and Parkinson's disease in a community-based sample of subjects on anti-parkinsonian medication. METHODS: computerized prescribing records in general practice were used to create a community-based disease register for Parkinson's disease. Subjects were examined to establish the likely diagnosis using recommended clinical diagnostic criteria. RESULTS: of 402 cases, parkinsonism was confirmed in 74% and clinically probable Parkinson's disease in 53%. The commonest causes of misdiagnosis were essential tremor, Alzheimer's disease and vascular pseudo-parkinsonism. Over one-quarter of subjects did not benefit from anti-parkinsonian medication. CONCLUSIONS: there is difficulty in diagnosing parkinsonism and Parkinson's disease in elderly subjects and we suggest early referral of those suspected of having parkinsonism for specialist assessment.


Asunto(s)
Enfermedad de Parkinson/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Humanos , Persona de Mediana Edad , Reproducibilidad de los Resultados
7.
Age Ageing ; 26(4): 309-13, 1997 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-9271295

RESUMEN

OBJECTIVE: to determine what practising geriatricians in Wales do to continue their education; what they would prefer to do; and what their views are on study leave, resources and funding. DESIGN: questionnaire survey. SETTING: the principality of Wales. PARTICIPANTS: hospital-based, career-grade geriatricians. RESULTS: the overall response rate from a total of 56 questionnaires was 87%. More than half [26 (53%)] of the respondents stated they were able to take only half of their study leave entitlement of 10 days a year. Twenty-five (51%) considered this to be due to service commitment. Geriatricians regarded attendance at routine hospital meetings [47 (96%)] and specialist society meetings [45 (92%)], reading books and journals [49 (100%)] and discussion with colleagues [44 (90%)] as their preferred methods of keeping up to date. Most respondents [44 (90%)] said that the resources and funding required to underpin the system of continuing medical education (CME) should be provided by the employing authority. CONCLUSIONS: the many barriers to the continuing education of geriatricians in Wales include service commitments and funding constraints. Geriatricians placed great emphasis on the traditional CME methods such as reading books and journals, attending meetings and conferences and discussion with colleagues and were reluctant to use technology-based educational methods. The results of this study have implications for the way in which geriatricians fulfil CME obligations in the future and provide directions for the planners of CME.


Asunto(s)
Educación Médica Continua/tendencias , Geriatría/educación , Adulto , Anciano , Actitud del Personal de Salud , Curriculum , Femenino , Organización de la Financiación , Humanos , Masculino , Persona de Mediana Edad , Instrucciones Programadas como Asunto , Gales/epidemiología
8.
Int J Qual Health Care ; 7(4): 407-10, 1995 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-8820217

RESUMEN

We investigated the quality of diagnostic coding in relation to cerebrovascular disease (CVD) in a computerized clinical information system by comparing the codes on the computer printout, obtained from casemix database on 166 patients with a diagnosis of cerebrovascular disease, with the codes allocated by the investigators after examining the case notes. Overall, the diagnostic coding was incorrect in 44 (26%) cases. These inaccuracies included 9 (5%) patients who did not have CVD and 35 (21%) patients who were incorrectly coded as "acute but ill-defined stroke". The inadequacy of information in discharge letters was the main reason for such discrepancies (21 cases). There is a need for adequate education and training of doctors and coding clerks and for a constant dialogue between them if the deficiencies in coding are to be rectified and the value of hospital information system in the audit, costing and health care planning is to be improved.


Asunto(s)
Trastornos Cerebrovasculares/clasificación , Registros Médicos/clasificación , Anciano , Anciano de 80 o más Años , Trastornos Cerebrovasculares/diagnóstico , Grupos Diagnósticos Relacionados/estadística & datos numéricos , Femenino , Investigación sobre Servicios de Salud , Hospitales Públicos , Humanos , Masculino , Sistemas de Registros Médicos Computarizados , Persona de Mediana Edad , Control de Calidad , Medicina Estatal , Gales
10.
Gerontology ; 41(6): 326-31, 1995.
Artículo en Inglés | MEDLINE | ID: mdl-8586289

RESUMEN

This study investigated, by questionnaire, the attitudes of geriatricians, speech therapists, dieticians, and nurses towards feeding by percutaneous endoscopic gastrostomy (PEG). The final response rate from a total of 199 questionnaires sent to this group was 75%. According to 95 (64%) of the respondents, the decision to use PEG feeding was reached by a multidisciplinary team approach and commonly involved carers as well as the patients. The quality of life was the single most important factor influencing this decision. PEG feeding was felt to be indicated in non-dysphagia-related malnutrition by 98 (66%) and in dementia with rejection of oral feeding by 69 (47%) of the respondents. It was felt by 39 (55%) of the nurses and by 32 (42%) of the other professionals that patients with dementia in long-term care who are established on nasogastric feeding should be converted to PEG feeding. This raises several ethical and resource issues.


Asunto(s)
Actitud del Personal de Salud , Nutrición Enteral/métodos , Gastrostomía , Trastornos Nutricionales/terapia , Humanos , Cuidados a Largo Plazo/métodos , Cuidados a Largo Plazo/psicología , Calidad de Vida , Encuestas y Cuestionarios
15.
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