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1.
Community Dent Health ; 30(4): 200-3, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24575522

RESUMEN

This paper describes the principles applied and the challenges met while seeking user and other stakeholder perspectives before designing an oral care training package for carers in nursing and residential care facilities. The public health competencies it illustrates include the application of appropriate leadership styles, strategic management, collaborative working and knowledge of research methodology.


Asunto(s)
Cuidadores/educación , Educación en Salud Dental , Capacitación en Servicio/métodos , Personal de Enfermería/educación , Cuidado Dental para Ancianos , Inglaterra , Hogares para Ancianos , Humanos , Capacitación en Servicio/organización & administración , Casas de Salud , Técnicas de Planificación
2.
Community Dent Health ; 29(3): 195-7, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23038933

RESUMEN

Practitioners in Dental Public Health often need to find more cost-efficient ways of providing services, whilst assisting with the personal and professional development of colleagues. This paper gives an example of how these competencies were deployed in relation to an epidemiology programme.


Asunto(s)
Odontología , Personal de Salud , Enfermedades Estomatognáticas/epidemiología , Estudios Epidemiológicos , Evaluación de Resultado en la Atención de Salud , Reino Unido/epidemiología , Recursos Humanos
3.
Artículo en Alemán | MEDLINE | ID: mdl-21887616

RESUMEN

OBJECTIVE: To review four key topics pertaining to the oral health of the United Kingdom (UK): (1) provision of state-funded dentistry, (2) trends in oral health, (3) dental caries prevention, and (4) determinants of dental health. METHODS: Data were abstracted, mainly from peer-reviewed publications in the literature. Information was updated where appropriate. RESULTS: Since the 1948 inception of the National Health Service (NHS) and its General Dental Service (GDS), the system of providing dentistry has evolved in response to changing fiscal and health circumstances. Since the 1970s, the oral health of the population, both children's dental decay experience and the decline adult tooth loss, has improved steadily and substantially. Approaches towards prevention are discussed and the dominant position of water fluoridation highlighted. The determinants of dental health are analysed. CONCLUSION: Dental caries experience of children in the UK and the rest of Europe is highly correlated with national wealth as are two other significant determinants: fluoride toothpaste and sugar consumption. The activity of dental professionals appears to have only a limited influence on levels of oral health. There is reason to believe that UK water fluoridation coverage may broaden.


Asunto(s)
Atención Odontológica/tendencias , Caries Dental/prevención & control , Medicina Estatal/tendencias , Adulto , Niño , Comparación Transcultural , Estudios Transversales , Índice CPO , Caries Dental/epidemiología , Fluoruración/tendencias , Humanos , Salud Bucal/tendencias , Factores Socioeconómicos , Reino Unido
4.
Community Dent Health ; 28(1): 34-9, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21485232

RESUMEN

OBJECTIVE: To estimate the potential reduction in dental caries among 5-6-year-old children in a city in the South West of England after six years of water fluoridation. METHOD: Thirteen out of 35 inner city wards and seven out of 43 outer city wards (sharing the same water supply) having the highest mean dmft of 5-6-year-olds (recorded in a census survey in 2005/6) and/or highest indexes of multiple deprivation (IMD) were the principal focal point. Population demographic data and 5-6-year-old caries prevalence and experience were examined. Mean IMD scores and aggregated, weighted mean values for dmft and caries prevalence were referred to previously published regression analyses of caries levels plotted against IMD for 34 fluoridated (F) and 233 non-fluoridated (NF) health districts in England in order to estimate potential caries reductions. RESULTS: Mean dmft of 5-6-year-olds in the 20 wards with the highest caries levels and/or social deprivation was 2.10 (95% CI 1.87, 2.33) and caries prevalence 49% (95% CI 47%, 52%). In three wards, mean dmft exceeded 2.60. Population of the selected wards was approximately 210,800 with a mean IMD score of 33.70 As a conservative estimate, after six years of fluoridation a caries reduction of > 40% could be expected in 5-6-year-olds for the conurbation overall and for the 20 high caries/high IMD wards, with a gain of 12 percentage points in the absolute proportion caries-free. The overall population of the 78 wards served by the three relevant water treatment works identified was approximately 700,000. CONCLUSIONS: On the basis of current caries levels and population demographics, it appears that a comprehensive fluoridation scheme covering the inner and outer city districts would substantially improve the dental health of the city's children.


Asunto(s)
Caries Dental/prevención & control , Fluoruración , Planificación en Salud/métodos , Niño , Preescolar , Intervalos de Confianza , Índice CPO , Caries Dental/epidemiología , Inglaterra/epidemiología , Predicción , Humanos , Funciones de Verosimilitud , Prevalencia , Carencia Psicosocial , Análisis de Regresión , Medición de Riesgo , Población Urbana
5.
Community Dent Health ; 25(2): 70-8, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18637317

RESUMEN

OBJECTIVE: To investigate, from current cross-sectional data, the relationships between dental caries experience of 12-year-old children in 29 countries of Europe and four independent variables: national wealth (GDP), expressed as purchasing power parity (PPP x 1,000US$)/ capita/year; population per active dentist; sugar consumption, expressed as Kg/capita/year; and volume sales of toothpaste, expressed as litres/capita/year. METHOD: Most of the data were abstracted from relevant websites. Information on toothpaste sales was from personal communication and obtainable for 16 countries of Western Europe only. Relationships were examined using Spearman's rank correlation method. RESULTS: Mean DMFT showed a strong negative association with national GDP (rho = -0.729, p < 0.01), whilst toothpaste sales showed a statistically significant positive association with GDP (rho = 0.599, p < 0.05) as did sugar consumption (rho = 0.575, p < 0.01). Paradoxically, caries experience yielded a strong negative correlation with sugar consumption (rho = -0.561, p < 0.01) such that ranked increases in mean DMFT were significantly associated with decreasing levels of sugar consumption. None of the other rank correlations was statistically significant. CONCLUSIONS: Unavoidable shortcomings of the available data and their incompleteness meant that any conclusions that could be drawn were speculative. A possible explanation for the anomalous association of low mean DMFT with high sugar consumption in Western Europe is that the extensive use of, mainly fluoride containing, toothpaste neutralises the potential damage from high sugar consumption. Use of sugar principally as a commercial food or drink additive in modern times, with potential for buffering of its acidic fermentation products, together with a possibly more rapid oral clearance of sugar in additive form, may also be a contributory factor.


Asunto(s)
Caries Dental/epidemiología , Niño , Estudios Transversales , Índice CPO , Odontólogos/provisión & distribución , Sacarosa en la Dieta/economía , Economía , Europa (Continente)/epidemiología , Humanos , Modelos Lineales , Prevalencia , Pastas de Dientes/economía
6.
Br Dent J ; 203(3): 118, 2007 Aug 11.
Artículo en Inglés | MEDLINE | ID: mdl-17694002
7.
J Inherit Metab Dis ; 30(5): 783-9, 2007 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-17703370

RESUMEN

AIM: This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country. PATIENTS AND METHODS: 24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, platelet count, volume of the liver and spleen, plasma chitotriosidase and the severity score were assessed every 6 months; skeletal radiography and osteodensitometry were also monitored. RESULTS: Eleven patients were splenectomized before start of therapy. Eight patients had anaemia (mean haemoglobin 9.4 g/dl) and 14 patients, of whom 13 were without splenectomy, had thrombocytopenia (mean 65,692/mm3). Haemoglobin values normalized after 6 months and the platelet count increased to 147,818/mm3 after 18 months of treatment. Splenomegaly improved (mean 13.8x to 5.6x normal), hepatomegaly improved (mean 1.4x to 1.06x normal), the severity score decreased (mean 15.9 to 8.4), plasma chitotriosidase levels showed a reduction from 40,956 to 11,266 nmol/h per ml plasma. Bone disease improved clinically in all patients; bone radiography and osteodensitometry showed no further disease progress. We observed a mean weight gain of 4.3 kg, an improvement in quality of life, and the absence of therapeutic adverse events. CONCLUSIONS: Enzyme replacement therapy administered for 18 months in Romanian patients with Gaucher disease type I led to a marked improvement in haematological parameters and hepato- and splenomegaly. In the majority of patients we observed no further progress of bone disease; for an improvement in skeletal disease, a longer treatment period is required.


Asunto(s)
Enfermedad de Gaucher/tratamiento farmacológico , Glucosilceramidasa/uso terapéutico , Adolescente , Adulto , Anemia/tratamiento farmacológico , Anemia/etiología , Enfermedades Óseas/tratamiento farmacológico , Enfermedades Óseas/etiología , Niño , Terapia Combinada , Femenino , Estudios de Seguimiento , Enfermedad de Gaucher/sangre , Enfermedad de Gaucher/complicaciones , Enfermedad de Gaucher/cirugía , Glucosilceramidasa/efectos adversos , Hemoglobinas/metabolismo , Hexosaminidasas/sangre , Humanos , Hepatopatías/tratamiento farmacológico , Hepatopatías/etiología , Masculino , Persona de Mediana Edad , Recuento de Plaquetas , Calidad de Vida , Proteínas Recombinantes/uso terapéutico , Rumanía , Índice de Severidad de la Enfermedad , Esplenectomía , Esplenomegalia/tratamiento farmacológico , Esplenomegalia/etiología , Trombocitopenia/tratamiento farmacológico , Trombocitopenia/etiología , Factores de Tiempo , Resultado del Tratamiento , Aumento de Peso/efectos de los fármacos
8.
J Hosp Infect ; 66(4): 360-8, 2007 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-17655975

RESUMEN

Meticillin-resistant Staphylococcus aureus (MRSA) persists in the hospital environment and conventional cleaning procedures do not necessarily eliminate contamination. A prospective study was conducted on an intensive care unit to establish the level of environmental contamination with MRSA, assess the effectiveness of hydrogen peroxide vapour (HPV) decontamination and determine the rate of environmental recontamination. MRSA was isolated from 11.2% of environmental sites in the three months preceding the use of HPV and epidemiological typing revealed that the types circulating within the environment were similar to those colonising patients. After patient discharge and terminal cleaning using conventional methods, MRSA was isolated from five sites (17.2%). After HPV decontamination but before the readmission of patients, MRSA was not isolated from the environment. Twenty-four hours after readmitting patients, including two colonized with MRSA, the organism was isolated from five sites. The strains were indistinguishable from a strain with which a patient was colonized but were not all confined to the immediate vicinity of the colonized patient. In the eight weeks after the use of HPV, the environment was sampled on a weekly basis and MRSA was isolated from 16.3% sites. Hydrogen peroxide vapour is effective in eliminating bacteria from the environment but the rapid rate of recontamination suggests that it is not an effective means of maintaining low levels of environmental contamination in an open-plan intensive care unit.


Asunto(s)
Descontaminación/métodos , Desinfectantes/farmacología , Contaminación de Equipos/prevención & control , Peróxido de Hidrógeno/farmacología , Staphylococcus aureus/efectos de los fármacos , Staphylococcus aureus/aislamiento & purificación , Recuento de Colonia Microbiana , Infección Hospitalaria/prevención & control , Humanos , Control de Infecciones/métodos , Unidades de Cuidados Intensivos , Resistencia a la Meticilina/efectos de los fármacos , Estudios Prospectivos , Staphylococcus aureus/crecimiento & desarrollo , Volatilización
9.
Br Dent J ; 202(6): E15; discussion 326-7, 2007 Mar 24.
Artículo en Inglés | MEDLINE | ID: mdl-17299424

RESUMEN

OBJECTIVE: The purpose of this ecological study was to investigate the relationship between uptake of orthodontic services and factors that might influence receipt of care at a population level. METHOD: The dental practice board supplied data on claims for courses of active orthodontic treatment from April 2001 to March 2002 for children from the former county of Avon. These data were analysed in relation to deprivation, living in an urban/rural setting and the proportion of the population from a black or minority ethnic group (BME). RESULTS: In Avon, children from deprived and rural areas were significantly less likely to be undergoing an active course of orthodontic treatment. Children from an area with a high proportion BME were significantly more likely to be undergoing treatment. CONCLUSION: This research demonstrates that children from more deprived and rural communities in Avon are less likely to receive orthodontic treatment. This has important policy implications for primary care trusts that have a responsibility to ensure equal access to care for all of their children.


Asunto(s)
Atención Dental para Niños/estadística & datos numéricos , Maloclusión/terapia , Ortodoncia Correctiva/estadística & datos numéricos , Adolescente , Niño , Etnicidad/estadística & datos numéricos , Femenino , Humanos , Masculino , Análisis de Regresión , Población Rural , Factores Socioeconómicos , Población Urbana
10.
Int Dent J ; 56(1): 7-16, 2006 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-16515007

RESUMEN

OBJECTIVE: To examine the provision of dental services by salaried personnel in the countries of Western Europe, together with Australia, Canada and New Zealand, and to weigh the merits of this method against alternatives, namely, capitation and fee for item of service. In light of the findings, to consider the future role of salaried dental services in the National Health Service (NHS) in England. METHOD: Information was gathered from published reports, the World Wide Web and by mailed questionnaire to national chief dental officers or equivalents. RESULTS: Narrative descriptions of service provision in the countries with salaried primary dental care services were compiled. Demographic, macro-economic, workforce, and oral health data for the broader spectrum of Western industrialised countries were tabulated. Examination of the quantitative data showed no strong associations between variables. CONCLUSIONS: Dental services delivered by a salaried workforce can be costly in relation to the volume of clinical activity produced. However, deployment of clinical auxiliary personnel can keep costs down. Salaried services foster a preventive approach to care and are particularly suitable where care is directed towards vulnerable groups within the community. Salaried staff generally receive a lower level of remuneration than private practitioners but usually work in an environment less subject to undue pressures of time.


Asunto(s)
Atención a la Salud/economía , Servicios de Salud Dental/economía , Países Desarrollados , Salarios y Beneficios , Odontología Estatal/economía , Australia , Canadá , Capitación , Auxiliares Dentales , Inglaterra , Europa (Continente) , Planes de Aranceles por Servicios , Costos de la Atención en Salud , Humanos , Internet , Nueva Zelanda , Odontología Preventiva/economía , Práctica Privada/economía , Encuestas y Cuestionarios , Factores de Tiempo , Poblaciones Vulnerables , Lugar de Trabajo
11.
Community Dent Health ; 22(2): 86-93, 2005 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-15984133

RESUMEN

OBJECTIVES: To document data on current and past levels of dental decay in British children and compare trends with those in other countries, in Europe in particular. METHOD: Data were abstracted from multiple sources and collated and tabulated. RESULTS: The dental health of the majority of British children has improved dramatically since the early 1970s. Twelve-year-old children now have on average less than one decayed, missing (extracted) or filled tooth. Levels of dental decay in UK children at 5 and 12 years are among the lowest in the world. There are still marked inequalities in the dental decay experience of children between the territorial regions of the UK, high and low socio-economic groups, and regular and symptomatic dental attenders. Many children in areas of deprivation are either not motivated to seek dental treatment or experience barriers in obtaining it. In parallel with improvements in the dental health of the majority of children, the proportion of UK adults who have no natural teeth has fallen from 37% to 12% over the past four decades. Total tooth loss is now confined almost entirely to individuals over 45 years of age. Most of the improvements in children's dental health are attributable to environmental factors, in particular the widespread availability of fluoride containing toothpastes since the 1970s. There are clear benefits from fluoridation of public water supplies over and above those attributable to other factors. CONCLUSIONS: The findings suggest initiatives should be directed to bringing children from deprived backgrounds under the umbrella of dental care. To help alleviate the inequalities in dental health, water fluoridation should be implemented, in urban industrial areas in particular, where levels of dental decay are still unacceptably high.


Asunto(s)
Caries Dental/epidemiología , Adolescente , Adulto , Niño , Preescolar , Índice CPO , Países Desarrollados/estadística & datos numéricos , Europa (Continente)/epidemiología , Fluoruración , Humanos , Persona de Mediana Edad , Prevalencia , Clase Social , Reino Unido/epidemiología
12.
Br Dent J ; 196(12): 761-5; discussion 759, 2004 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-15220982

RESUMEN

OBJECTIVES: To determine current demographic details of dental specialist registrars in the UK, to examine their current working patterns and ascertain their future career aspirations. METHODS: A cross-sectional survey, using a self-administered postal questionnaire of all 418 dental specialist registrars (SpRs) in the UK. RESULTS: The response rate was 78%. Of the SpRs who responded 59% were male, the majority were aged under 36, 54% were married and over one third had dependants. Orthodontics had the greatest number of SpRs with 141, followed by maxillofacial surgery (70) and restorative dentistry (52). On completion of training, 80% of SpRs intended to work full time. Significantly more women intended to work part-time. Only a fifth of SpRs said they would consider an academic appointment compared with 54% for specialist practice. Three quarters intended to work partly in the public sector and partly in a private capacity. London was the most popular choice of location for a post in the future. Access to a wide range of clinical work, continuing professional development, autonomy and sociability were the most important factors when considering their future choice of career. CONCLUSION: Changes in the demographic profile of dental specialists and increasing opportunities for providing care within primary care may lead to difficulties in recruitment to academic and hospital posts. Increasing provision of specialist services in the 'high street' might improve access but could lead to inequalities unless these services are commissioned according to the needs of the population.


Asunto(s)
Especialidades Odontológicas , Adulto , Selección de Profesión , Estudios Transversales , Femenino , Humanos , Masculino , Pautas de la Práctica en Odontología , Especialidades Odontológicas/educación , Odontología Estatal , Encuestas y Cuestionarios , Reino Unido , Recursos Humanos
13.
Gene Ther ; 10(21): 1841-9, 2003 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-12960974

RESUMEN

Sandhoff disease is a severe inherited neurodegenerative disorder resulting from deficiency of the beta-subunit of hexosaminidases A and B, lysosomal hydrolases involved in the degradation of G(M2) ganglioside and related metabolites. Currently, there is no viable treatment for the disease. Here, we show that adenovirus-mediated transfer of the beta-subunit of beta-hexosaminidase restored Hex A and Hex B activity after infection of Sandhoff fibroblasts. Gene transfer following intracerebral injection in a murine model of Sandhoff disease resulted in near-normal level of enzymatic activity in the entire brain at the different doses tested. The addition of hyperosmotic concentrations of mannitol to the adenoviral vector resulted in an enhancement of vector diffusion in the injected hemisphere. Adenoviral-induced lesions were found in brains injected with a high dose of the vector, but were not detected in brains injected with 100-fold lower doses, even in the presence of mannitol. Our data underline the advantage of the adjunction of mannitol to low doses of the adenoviral vector, allowing a high and diffuse transduction efficiency without viral cytotoxicity.


Asunto(s)
Adenoviridae/genética , Terapia Genética/métodos , Vectores Genéticos/administración & dosificación , Manitol/administración & dosificación , Enfermedad de Sandhoff/terapia , beta-N-Acetilhexosaminidasas/genética , Animales , Encéfalo/enzimología , Difusión , Fibroblastos/enzimología , Hexosaminidasa A , Hexosaminidasa B , Inyecciones , Ratones , Ratones Mutantes , Modelos Animales , Enfermedad de Sandhoff/enzimología , beta-N-Acetilhexosaminidasas/metabolismo
14.
J Cell Mol Med ; 4(4): 297-302, 2000.
Artículo en Inglés | MEDLINE | ID: mdl-12067465

RESUMEN

Inherited resistance to activated protein C has been recognized as a major risk factor for thrombosis. The factor V Leiden mutation, which is detectable by molecular DNA techniques, is responsible for 95% of cases of activated protein C resistance. In our study one patient with venous leg ulcers from a family with a history of thrombosis showed factor V Leiden mutation. Genotypic analysis demonstrated that the patient was homozygous for factor V Leiden. All family members of the index subject showed the same abnormalities. Two were homozygous and 3 were heterozygous for factor V Leiden mutation. The polymerase chain reaction was used to amplify exon 10 of the factor V gene, followed by enzymatic digestion with MnlI for mutation detection. Patients with a family history of thrombosis and factor V Leiden have an increased risk of venous leg ulcers. Screening for factor V Leiden may be indicated in patients with venous leg ulcers and their family members.

15.
Carcinogenesis ; 19(6): 1153-6, 1998 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-9667757

RESUMEN

This study examined the expression of fibroblast growth factor receptor 2 (FGFR 2) splice variants, IIIb and IIIc, in normal and malignant human oral keratinocytes and in normal oral fibroblasts by RT-PCR using both exon-specific primers and primers common to both FGFR 2 isoforms. Fibroblasts expressed exclusively FGFR 2/IIIc whilst the normal and malignant keratinocytes co-expressed FGFR 2/IIIb and FGFR 2/IIIc. Well-differentiated keratinocytes expressed proportionally more FGFR 2/IIIb than IIIc whereas the poorly-differentiated cells expressed more FGFR 2/IIIc than IIIb. The normal and malignant keratinocytes, but not fibroblasts, expressed an additional amplification product, which consisted of both IIIb and IIIc of FGFR 2 joined by an extra base pair and with the intronic sequence removed. The results indicate that the expression of FGFR 2 isoforms reflects the degree of cellular differentiation in normal and malignant human oral keratinocytes and that receptor complexes of FGFR 2/IIIb and IIIc may regulate ligand-receptor interactions.


Asunto(s)
Carcinoma de Células Escamosas/patología , Diferenciación Celular/genética , Neoplasias de la Boca/patología , Proteínas Tirosina Quinasas Receptoras/genética , Receptores de Factores de Crecimiento de Fibroblastos/genética , Carcinoma de Células Escamosas/genética , Exones , Humanos , Neoplasias de la Boca/genética , Reacción en Cadena de la Polimerasa , Empalme del ARN , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos
16.
J Oral Pathol Med ; 26(7): 327-33, 1997 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-9250933

RESUMEN

This study examined the mitogenic response to keratinocyte growth factor (KGF) of normal and tumour-derived human oral keratinocytes in which the degree of cellular differentiation was known and in contiguous fibroblast cultures derived from the malignant epithelial cultures. Keratinocytes, but not fibroblasts, were stimulated by KGF, thereby demonstrating epithelial target cell specificity of the ligand. KGF-induced stimulation of the tumour-derived keratinocytes cultured in the absence of the 3T3 fibroblast support broadly correlated with the degree of cellular differentiation; well-differentiated keratinocytes were stimulated more by KGF than their less differentiated counterparts. Malignant oral keratinocytes expressed KGF cell surface receptors (KD 451-709 pM; receptors/cell 2306-13645), but KGF receptor mRNA did not correlate with either KGF-induced mitogenesis or the degree of epithelial cell differentiation. When the tumour-derived keratinocytes were cultured in the presence of 3T3 fibroblasts, the mitogenic response to KGF was comparable to normal epithelial cells. The results suggest that KGF-mediated growth stimulation may not be significant in providing a selective advantage for the growth of malignant keratinocytes.


Asunto(s)
Factores de Crecimiento de Fibroblastos , Sustancias de Crecimiento/farmacología , Queratinocitos/efectos de los fármacos , Receptores de Factores de Crecimiento de Fibroblastos , Receptores de Factores de Crecimiento/metabolismo , Células 3T3 , Adulto , Anciano , Anciano de 80 o más Años , Animales , Northern Blotting , Carcinoma de Células Escamosas/metabolismo , Diferenciación Celular/efectos de los fármacos , División Celular/efectos de los fármacos , Células Cultivadas , Técnicas de Cocultivo , Femenino , Factor 10 de Crecimiento de Fibroblastos , Factor 7 de Crecimiento de Fibroblastos , Fibroblastos/efectos de los fármacos , Humanos , Queratinocitos/metabolismo , Masculino , Ratones , Persona de Mediana Edad , ARN Mensajero/análisis , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos , Células Tumorales Cultivadas
17.
Hum Mutat ; 9(3): 234-42, 1997.
Artículo en Inglés | MEDLINE | ID: mdl-9090526

RESUMEN

Metachromatic leukodystrophy (MLD), a lysosomal storage disease caused by the deficiency of arylsulfatase A (ASA), is inherited as an autosomal recessive trait, and its frequency is estimated to be 1 in 40,000 live births. Genomic DNA from 21 MLD patients (14 late-infantile and 7 juvenile cases) was amplified in four overlapping PCR fragments and tested by allele-specific oligonucleotide (ASO) for the two common mutations 459 + 1G-->A and P426L. These mutations were found in only 28.6% of the alleles studied. The remaining alleles were analyzed by chemical mismatch cleavage (CMC) and automatic sequencing. In addition to five previously reported mutations (459 + 1G-->A, A212V, R244C, R390W, P426L), 10 novel mutations were identified: 9 missense mutations (S95N, G119R, D152Y, R244H, S250Y, A314T, R384C, R496H, K367N) and one 8 bp deletion in exon 1, the first mutation reported in this exon. These methods allowed us to identify 76% of the alleles tested. Genotype-phenotype correlations could be established for some of these mutations. These results confirm the heterogeneity of mutations causing MLD and suggest that CMC is a reliable and informative screening method for point mutation detection in the arylsulfatase A gene.


Asunto(s)
Cerebrósido Sulfatasa/genética , Leucodistrofia Metacromática/genética , Mutación , Alelos , Cerebrósido Sulfatasa/análisis , Análisis Mutacional de ADN , Exones , Genotipo , Humanos , Hibridación de Ácido Nucleico , Fenotipo , Mutación Puntual/genética , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADN , Eliminación de Secuencia/genética
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