Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 102
Filtrar
1.
J Dent Res ; 101(6): 616-618, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35302416

RESUMEN

The Consensus Statement on Future Directions for the Behavioral and Social Sciences in Oral Health (Consensus Statement) is a transformational contribution to oral health research synthesizing a wide array of conceptual, methodological, and disciplinary concerns and offering strategies to improve scientific inquiry. The Consensus Statement explicates global oral health equity as a foundational concern of our field. Given this context, a key concern is missing from the statement: oppression!


Asunto(s)
Equidad en Salud , Racismo , Consenso , Salud Bucal
2.
Community Dent Health ; 38(3): 198-208, 2021 Aug 31.
Artículo en Inglés | MEDLINE | ID: mdl-34029018

RESUMEN

OBJECTIVE: To synthesize English or Spanish-language literature on community health workers' (CHWs') roles, training, and impact in oral health. BASIC RESEARCH DESIGN: A scoping review conducted in accordance with the Arksey and O'Malley (2005) methodological framework. METHOD: Electronic literature searches were conducted in Medline (Ovid), Embase (Ovid), DOSS, CINAHL, Web of Science, and Global Health CAB from inception of the databases to April 2020. Three reviewers independently conducted the title and abstract and full-text reviews. This was followed by data charting by three reviewers and data summarizing by two reviewers. RESULTS: Out of the 36 articles that met the inclusion criteria, most took place in the United States (n=15) with most published between 2012 and 2019 (12). CHWs were incorporated in programs that focused on access to dental care (n=10), oral health promotion only (9), early childhood caries (8), oral health promotion and services (5), and oral cancer screening (4). Common roles included providing oral health education and behavior change motivation to community members, facilitating utilization of dental services, and the delivery of diagnostic and dental services to community members. Training and outcomes were not consistently described across studies. CONCLUSION: CHWs have been used in oral health programs and interventions across a wide range of locations and contexts. The implementation and scaling-up of oral health CHW programs requires appropriate provision of training as well as community embedded monitoring and evaluation structures based on rigorous methods with clearly defined outcomes.


Asunto(s)
Agentes Comunitarios de Salud , Salud Bucal , Preescolar , Salud Global , Promoción de la Salud , Humanos , Estados Unidos
3.
Adm Policy Ment Health ; 48(2): 354-362, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-32780219

RESUMEN

The co-occurrence of schizophrenia and substance use disorder (SUD) is clinically challenging and increasingly prevalent. This study compares trends in hospitalization characteristics of chronic psychotic patients with and without SUD in Israel, before and after introduction of the Community Rehabilitation of Persons with Mental Disability Law in 2000. The National Psychiatric Case Registry provided data on 18,684 adults with schizophrenia/schizoaffective disorders, hospitalized in 1991-2016 (at least once in 2010-2015). Repeated-measures ANOVA was used to measure the effect (and interactions) of group (patients with and without co-occurring disorders (COD)), time-period (Period1: 1991-2000, Period2: 2001-2009, Period3: 2010-2016) and age, on hospitalization measures-average length of stay (LOS), annual number of hospitalizations and hospitalization days. Among non-COD patients hospitalized in all three periods, LOS declined by half from 133.3 days in Period1 to 63.2 in Period3, and the annual number of hospitalizations increased slightly from 0.45 to 0.56. Among COD patients, LOS declined moderately from 82.7 days to 58.3 days, while annual hospitalizations increased dramatically from 0.56 to 0.82. The annual average number of hospitalization days/capita declined from 49.7 in Period1 to 26.3 in Period3 among non-COD patients, yet remained virtually unchanged among COD patients-39.6 and 37.4 in the two periods, respectively. Since introduction of the law, a significant improvement in hospitalization characteristics of chronic psychotic non-COD patients has been noted, whereas the situation worsened somewhat for COD patients. Community rehabilitation services for COD patients in Israel have yet to develop as a suitable alternative to hospitalization, and additional rehabilitation services are urgently needed.


Asunto(s)
Trastornos Psicóticos , Esquizofrenia , Trastornos Relacionados con Sustancias , Adulto , Hospitalización , Humanos , Israel/epidemiología , Trastornos Psicóticos/epidemiología , Esquizofrenia/epidemiología , Trastornos Relacionados con Sustancias/epidemiología
4.
JDR Clin Trans Res ; 6(2): 222-233, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-32437635

RESUMEN

OBJECTIVES: Access to routine dental services is important to maintaining good oral health. The aims of this study were to describe the dental care utilization patterns of a diverse group of Hispanic/Latino men and women and assess differences in dental care utilization by perceived need for dental care and proxy measures of acculturation. METHODS: Data from 13,792 participants of the Hispanic Community Health Study were analyzed with SAS 9.4. Time since last dental visit was dichotomized into <1 and ≥1 y. Acculturation measures included the language and social subscales of the Short Acculturation Scale for Hispanics, the Multiethnic Study of Atherosclerosis nativity subscore, and immigrant generation. Survey logistic regression adjusted for demographic (age and sex) and health-related variables, estimated associations among perceived need for dental care, acculturation measures, and dental care utilization. RESULTS: About a quarter (23%) of the participants were born in the 50 US states, excluding territories, while 77% were non-US born. Overall, 74% perceived a need for dental care. Upon covariate adjustment, perceiving a need for dental care was associated with reduced odds of reporting a past-year dental visit (odds ratio, 0.32; 95% CI, 0.28 to 0.37), while there appeared to be no meaningful association between proxy measures of acculturation and past-year dental visit. Having health insurance was significantly associated with a past-year dental visit (odds ratio, 2.23; 95% CI, 1.99 to 2.49) for all groups combined and among the different Hispanic/Latino background groups. CONCLUSIONS: Acculturation affects general health and contributes to general health disparities; however, its role in dental care utilization remains questionable. Given that acculturation is a process that occurs over several years, longitudinal studies that evaluate oral health trajectories along the acculturation continuum are needed. KNOWLEDGE TRANSFER STATEMENT: The results of this study are valuable for dental public health program planning and implementation for minority groups, as it describes the varying patterns of dental care utilization among US-born and non-US born Hispanics/Latinos and identifies factors that may partly explain dental care utilization patterns, such as acculturation.


Asunto(s)
Hispánicos o Latinos , Salud Pública , Aculturación , Atención Odontológica , Femenino , Humanos , Prevalencia
5.
Postgrad Med ; 131(4): 268-277, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-31063407

RESUMEN

Eicosapentaenoic acid (EPA) is a key anti-inflammatory/anti-aggregatory long-chain polyunsaturated omega-3 fatty acid. Conversely, the omega-6 fatty acid, arachidonic acid (AA) is a precursor to a number of pro-inflammatory/pro-aggregatory mediators. EPA acts competitively with AA for the key cyclooxygenase and lipoxygenase enzymes to form less inflammatory products. As a result, the EPA:AA ratio may be a marker of chronic inflammation, with a lower ratio corresponding to higher levels of inflammation. It is now well established that inflammation plays an important role in cardiovascular disease. This review examines the role of the EPA:AA ratio as a marker of cardiovascular disease and the relationship between changes in the ratio (mediated by EPA intake) and changes in cardiovascular risk. Epidemiological studies have shown that a lower EPA:AA ratio is associated with an increased risk of coronary artery disease, acute coronary syndrome, myocardial infarction, stroke, chronic heart failure, peripheral artery disease, and vascular disease. Increasing the EPA:AA ratio through treatment with purified EPA has been shown in clinical studies to be effective in primary and secondary prevention of coronary artery disease and reduces the risk of cardiovascular events following percutaneous coronary intervention. The EPA:AA ratio is a valuable predictor of cardiovascular risk. Results from ongoing clinical trials will help to define thresholds for EPA treatment associated with better clinical outcomes.


Asunto(s)
Ácido Araquidónico/metabolismo , Enfermedades Cardiovasculares/prevención & control , Ácido Eicosapentaenoico/metabolismo , Inflamación/prevención & control , Aterosclerosis/prevención & control , Biomarcadores , Enfermedades Cardiovasculares/sangre , Enfermedad Crónica , Suplementos Dietéticos , Ácido Eicosapentaenoico/administración & dosificación , Humanos , Inflamación/sangre , Mediadores de Inflamación/metabolismo , Prostaglandinas/metabolismo , Factores de Riesgo
6.
J Dual Diagn ; 15(3): 130-139, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31079564

RESUMEN

Objective: A significant proportion of patients with severe mental illness also experience substance use disorder. For these dual diagnosis (DD) patients, treatment is more complicated and prognosis is worse. Despite the introduction of the Community Rehabilitation of Persons With Mental Health Disability Law in 2000 and ongoing national mental health reforms, psychiatric services in Israel are not meeting the needs of an increasing number of DD patients. This study examines, for the first time in Israel, the prevalence of DD and patterns of psychiatric hospitalizations of chronic psychotic disorder patients with and without substance use disorder. Methods: The National Psychiatric Case Registry provided data on 18,684 persons with schizophrenia/schizoaffective disorders, aged 18-65, with a psychiatric hospitalization during the period 1963-2016 (with at least one hospitalization in 2010-15). Patients were considered as having DD if their substance use disorder was indicated in at least two, or 20%, of hospitalizations. Regression modeling predicted hospitalization measures (number of hospitalizations, total days hospitalized, length of stay). Results were also analyzed by legal status of admission (voluntary or involuntary; psychiatrist-ordered and court-ordered). Results: One-third of patients with chronic psychotic disorder met DD criteria, with a threefold higher rate among males (37.1%) than females (12.8%). Particularly high rates of DD (nearly 50%) were noted among male immigrants from Ethiopia. Compared with non-substance use disorder patients, DD patients had a significantly younger mean age at first hospitalization and shorter average length of stay per hospitalization but a greater number of hospitalizations and total hospital days (p < .0001 for all comparisons). The associations between DD status and hospitalization characteristics remained significant even after accounting for the effects of confounding factors. Hospitalization characteristics were also associated significantly with sex, population group, age, age at first hospitalization, and country of origin. The rate of court-ordered observation or hospitalization was threefold higher in the DD group. Conclusions: These findings, which broadly align with other countries, reflect a scarcity of outpatient services for DD patients with schizophrenia/schizoaffective disorder and substance use disorder. To achieve long-term mental health improvements, an expansion of community-based integrative treatment and rehabilitation services is needed in Israel.


Asunto(s)
Diagnóstico Dual (Psiquiatría)/estadística & datos numéricos , Hospitalización/estadística & datos numéricos , Trastornos Psicóticos/epidemiología , Esquizofrenia/epidemiología , Trastornos Relacionados con Sustancias/epidemiología , Adolescente , Adulto , Factores de Edad , Anciano , Estudios de Casos y Controles , Enfermedad Crónica/epidemiología , Emigrantes e Inmigrantes/estadística & datos numéricos , Femenino , Hospitales Psiquiátricos/estadística & datos numéricos , Humanos , Israel/epidemiología , Tiempo de Internación , Masculino , Programas Obligatorios/estadística & datos numéricos , Persona de Mediana Edad , Sistema de Registros , Factores de Riesgo , Factores Sexuales , Adulto Joven
7.
Andrology ; 6(1): 127-135, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-29216686

RESUMEN

Congenital bilateral absence of the vas deferens (CBAVD) is found in 1% to 2% of males with infertility and is present in 6% of obstructive azoospermia cases. Nearly 95% of men with cystic fibrosis (CF, an autosomal recessive disorder) have CBAVD. There are genetic links between CBAVD and CF. Some mutations in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) can lead to CBAVD as a monosymptomatic form of CF. With the use of assisted reproductive techniques (ART), especially testicular or epididymal sperm aspiration, intracytoplasmic sperm injection, and in vitro fertilization, it is possible that men with CBAVD can produce offspring. Therefore, genetic counseling should be offered to couples undergoing ART to discuss the probability of having offspring that carry CFTR gene mutations. The aim of this review was to present the main cause of CBAVD, to call attention to its implications for assisted reproduction, and to show the importance of genetic counseling for couples where men have CBAVD, as they can have offspring with a lethal disease.


Asunto(s)
Fibrosis Quística/complicaciones , Infertilidad Masculina/genética , Enfermedades Urogenitales Masculinas/etiología , Enfermedades Urogenitales Masculinas/genética , Conducto Deferente/anomalías , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Asesoramiento Genético , Humanos , Masculino
8.
Clin Radiol ; 72(10): 858-863, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28687169

RESUMEN

AIM: To assess the frequency of undetected colon cancer on conventional abdominal CT and to evaluate the imaging features that are characteristic of those cancers. MATERIALS AND METHODS: The present study included consecutive patients diagnosed with colorectal cancer at colonoscopy (2006-2015) who also underwent abdominal computed tomography (CT) performed for various reasons within a year prior to the colonoscopy. The frequency of undetected lesions was evaluated for the original CT interpretations ("original readers"). Two radiologists ("study readers"), blinded to the tumour location, independently performed interpretations oriented for colon cancer detection. The study readers analysed the imaging features of detected tumours (tumour shape, length, maximal wall thickness, free fluid, fat stranding, vascular engorgement, stenosis, and lymphadenopathy). Imaging features of the cancers undetected by the original readers were evaluated. RESULTS: The study included 127 patients. The original readers' frequency of undetected cancer was 25/127 (19.7%). Each study reader could not identify the cancer in 8/127 (6.3%) patients. Imaging features associated with undetected cancers by the original readers included the absence of fat stranding (p=0.007, p=0.003), absence of vascular engorgement (p<0.0001, p<0.0001) and absence of lymphadenopathy (p=0.005, p=0.004). Undetected tumours were shorter than those detected (original reader: 33.2±11.9 versus 51.4±18.2 mm; study reader: 32.5±9.6 versus 61.3±23.4 mm; p<0.001). CONCLUSION: Colon cancer is undetected in 20% of abdominal CT examinations in patients subsequently proven to have colon cancer at colonoscopy. The absence of fat stranding, vascular engorgement, or lymphadenopathy, and an average tumour length of 3.3 cm are contributing factors for failure of detection. Radiologists' training should emphasis these findings as it may improve cancer detection, and clinicians should be aware of the limitations of abdominal CT.


Asunto(s)
Neoplasias del Colon/diagnóstico por imagen , Errores Diagnósticos/estadística & datos numéricos , Radiografía Abdominal/métodos , Tomografía Computarizada por Rayos X/métodos , Adulto , Anciano , Anciano de 80 o más Años , Colon/diagnóstico por imagen , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y Especificidad , Adulto Joven
9.
Genetica ; 145(1): 19-25, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28160168

RESUMEN

Cystic fibrosis (CF) is a common autosomal recessive disorder, being the p.F508del the most frequent mutation. Also, a nearby restriction fragment length polymorphism (RFLP) named XK (KM19 and XV2C) is non-randomly associated with specific CF alleles. Our aim was to analyze the occurrence of the p.F508del mutation and XK haplotypes in Afro-Brazilians CF patients and controls, since these data is available for the other two main ethnic groups found in Brazil (Euro-Brazilians and Brazilian Amerindians), contributing for the whole comprehension of these haplotypes in the Brazilian population. A total of 103 patients and 54 controls were studied. PCR and PCR-RFLP methodologies were used to identify the presence of the p.F508del and the XK haplotype in the subjects. The combined data show that 84.2% of p.F508del mutation is associated with haplotype B and only 15.8% with haplotype A; no other haplotypes were found to be associated with this mutation. Our data suggest that the occurrence of p.F508del mutation and haplotype B in Afro-Brazilian patients occurs probably due to admixture with Euro-descendants. Therefore this mutation and haplotype could be used as a admixture marker.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/genética , Etnicidad/genética , Haplotipos , Mutación , Alelos , Brasil , Estudios de Casos y Controles , Frecuencia de los Genes , Genética de Población , Humanos , Masculino
11.
Eksp Klin Farmakol ; 78(11): 30-4, 2015.
Artículo en Ruso | MEDLINE | ID: mdl-27017703

RESUMEN

Pharmacokinetics and pharmacological activity of GB-115 dipeptide anxiolytic after oral administration in the form of crystalline and micronized substances was studied in albino male rats. In contrast to crystalline, the micronized substance exhibited better pharmacokinetic parameters and higher bioavailability. In the "elevated plus maze" test, GB-115 in micronized form at a dose 0.3 mg/kg demonstrated pronounced anxiolytic properties during prolonged period as compared to crystalline substance at the same dose. The obtained data allow the micronized substance of GB-115 to be recommended for inclusion in pharmaceutical composition of new dipeptide anxiolytic drug formulations.


Asunto(s)
Ansiolíticos/farmacología , Ansiolíticos/farmacocinética , Dipéptidos/farmacología , Dipéptidos/farmacocinética , Aprendizaje por Laberinto/efectos de los fármacos , Animales , Masculino , Ratas
12.
Eksp Klin Farmakol ; 77(7): 31-4, 2014.
Artículo en Ruso | MEDLINE | ID: mdl-25322652

RESUMEN

Comparative analysis of the pharmacokinetics and bioequivalence of a new dipeptide anxiolytic compound GB-115 in three drug forms for peroral administration, developed in the experimental technology department of the Institute of pharmacology RAMS, was carried out. Three drug forms of GB-115 and a micronized substance of this compound were different in composition and technology of production. As a result of the investigations of GB-115 pharmacokinetics, drug form No. 2 (with a relative bioequivalence of 192%) showed advantages in comparison to the micronized parent substance and two other drug forms (bioequivalence, 53 and 117%) and can be recommended for further pharmacological studies.


Asunto(s)
Ansiolíticos/farmacocinética , Dipéptidos/farmacocinética , Animales , Ansiolíticos/farmacología , Disponibilidad Biológica , Dipéptidos/farmacología , Masculino , Ratas
13.
Oral Health Dent Manag ; 13(3): 728-30, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25284547

RESUMEN

BACKGROUND: Kohlschütter-Tönz syndrome is a rare neurodegenerative disorder presenting with intractable seizures, developmental regression, and characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta. Recently, mutations in ROGDI were identified in part of Kohlschütter-Tönz syndrome cases, but the siblings reported here do not have a mutation in the ROGDI gene, showing that there is genetic heterogeneity in Kohlschütter-Tönz syndrome. AIM: Report two siblings that have Kohlschütter-Tönz syndrome. CONCLUSION: Early onset of seizures and lack of the ability to walk without support may be signs of non-ROGDI mutations in Kohlschütter-Tönz syndrome patients.

15.
J Clin Neurosci ; 18(3): 437-8, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21236683

RESUMEN

Spinocerebellar ataxia type 10 is an autosomal dominant neurodegenerative disorder. It was initially described in Mexican families presenting with ataxia and epilepsy, with or without polyneuropathy, pyramidal signs and cognitive symptoms. The authors report three patients from the same family who were asymptomatic until gestation and puerperium, when they developed symptoms and signs suggestive of the syndrome. Genetic diagnosis was made in the three patients. The authors hypothesize that hormonal changes are likely to influence the manifestation of the condition.


Asunto(s)
Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/genética , Ataxias Espinocerebelosas/diagnóstico , Ataxias Espinocerebelosas/genética , Adulto , Edad de Inicio , Ataxina-10 , Femenino , Predisposición Genética a la Enfermedad , Humanos , Proteínas del Tejido Nervioso/genética , Linaje , Periodo Posparto , Embarazo , Complicaciones del Embarazo/fisiopatología , Ataxias Espinocerebelosas/fisiopatología
16.
J Basic Clin Physiol Pharmacol ; 20(3): 233-63, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19852310

RESUMEN

The goal of the present study was to apply the oscillatory brain dynamics model to the structural and quantitative analysis of neurocognitive functions considered as a potential marker of schizophrenia. This was achieved in tests of the detection of auditory events deviating in the regular auditory stream (oddball paradigm, MMN effect). It was hypothesized that the post-stimulus peaks of the oscillation power localized in post-stimulus time in the definite EEG oscillators represented neuro-electrical 'events' evoked in the specific neuronal nets characterized by this oscillation frequency band. We suggest that the time-frequency destination of these events related to the activation of the functional neuronal nets could be used for the determination of specific neurocognitive functions. Thus it was an attempt to distinguish the different neuro-functional parts of auditory processing and to compare these results between healthy subjects and patients with schizophrenia. The present results demonstrate the significant difference between the frontal averaged EEG oscillatory dynamics in healthy subjects and patients with schizophrenia related to neurocognitive function marked by the MMN and orienting response N200/P300a.


Asunto(s)
Trastornos del Conocimiento/fisiopatología , Electroencefalografía , Potenciales Evocados Auditivos , Esquizofrenia/fisiopatología , Estimulación Acústica/métodos , Adulto , Análisis de Varianza , Estudios de Casos y Controles , Trastornos del Conocimiento/etiología , Lóbulo Frontal/fisiopatología , Humanos , Masculino , Red Nerviosa/metabolismo , Adulto Joven
17.
J Inherit Metab Dis ; 31 Suppl 2: S357-61, 2008 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-18937049

RESUMEN

Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, ataxia, dystonia, cataplexy, vertical supranuclear gaze palsy, and seizures. Currently, there is no specific treatment for NPC other than palliative care. Substrate reduction therapy represents a potential strategy for treating this debilitating neurodegenerative disorder. Miglustat (Zavesca) is a reversible inhibitor of the enzyme glucosylceramide synthase, which catalyses the first step in the biosynthesis of most glycosphingolipids. Miglustat has pharmacokinetic properties that allow it to cross the blood-brain barrier, thus making it a potential therapeutic agent for treating neurological symptoms in NPC patients. We present here a case report of a Brazilian child treated with miglustat. Before treatment, the patient presented with difficulties walking and swallowing, slurred speech, moderate cognitive impairments, ataxia, ptosis, and vertical supranuclear ophthalmoplegia. On a disability scale, the patient obtained a score of 15 before treatment and 8 after treatment. Following 12 months of treatment, the patient remained stable with improvements in speech, ptosis, ophthalmoplegia, ataxia, hypotonia and seizures. The Child Behavior Checklist (CBCL) was used to assess psychopathological, behavioural and social problems before and after treatment. The CBCL showed that indices for depression, affective and attention problems were all in the normal range following treatment. Thus, for this individual miglustat was an effective, well-tolerated and efficacious medication for treatment of NPC symptoms. Follow-up maintenance studies are vital to establish whether both the efficacy and safety of miglustat persist with time.


Asunto(s)
1-Desoxinojirimicina/análogos & derivados , Inhibidores Enzimáticos/uso terapéutico , Glucosiltransferasas/antagonistas & inhibidores , Enfermedad de Niemann-Pick Tipo C/tratamiento farmacológico , 1-Desoxinojirimicina/uso terapéutico , Brasil , Niño , Conducta Infantil/efectos de los fármacos , Desarrollo Infantil/efectos de los fármacos , Evaluación de la Discapacidad , Femenino , Glucosiltransferasas/metabolismo , Humanos , Imagen por Resonancia Magnética , Enfermedad de Niemann-Pick Tipo C/complicaciones , Enfermedad de Niemann-Pick Tipo C/diagnóstico , Enfermedad de Niemann-Pick Tipo C/enzimología , Recuperación de la Función , Índice de Severidad de la Enfermedad , Factores de Tiempo , Resultado del Tratamiento
18.
Hum Biol ; 79(1): 79-91, 2007 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-17985657

RESUMEN

The frequencies of the deltaF508 deletion, the most common cystic fibrosis mutation in Europeans and European-derived populations, and the XV2C and KM19 restriction fragment length polymorphisms that are tightly linked to the CFTR locus vary among populations. To determine the distribution of these extragenic markers and of the deltaF508 mutation, we analyzed 326 chromosomes of individuals from two South American Indian populations, the Guarani and the Kaingang. The allele and haplotype frequencies differed greatly between the two populations as well as among Amerindians and normal European Brazilians and European Brazilian cystic fibrosis patients. The absence of the deltaF508 mutation and the B haplotype are in agreement with the hypothesis that the deltaF508 mutation occurred after the divergence of these two populations. This finding is useful for populations containing a large Amerindian component and helps us to understand the origins of the deltaF508 deletion, the most common cystic fibrosis mutation in Europeans and European-derived populations, as well as the different incidences of cystic fibrosis in continental groups.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/genética , Frecuencia de los Genes , Genética de Población/métodos , Haplotipos/genética , Indígenas Sudamericanos/genética , Mutación , Brasil , Humanos , Polimorfismo de Longitud del Fragmento de Restricción
19.
Clin Genet ; 72(3): 218-23, 2007 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-17718859

RESUMEN

Cystic fibrosis (CF) is a genetic disease that frequently leads to death in infancy among Europeans and their descendants. The goals of the present study were to analyze the molecular aspects of CFTR gene characterizing mutations, their frequencies, and the haplotypes formed by four CFTR gene intragenic markers, IVS8-6(T)n, IVS8CA, IVS17bTA and IVS17bCA, in a southern Brazilian population of Caucasian origin. DNA samples from 56 non-related CF patients were analyzed using scanning techniques (single strand conformation polymorphism and denaturing gradient gel electrophoresis), restriction fragment length polymorphism and direct DNA sequencing to identify the mutations. Our results revealed a total of 25 different CF mutations representing nearly 90% of CF alleles, two being novel mutations. Microsatellite haplotypes were defined for CF and normal alleles. The mutational spectrum and the associated haplotypes described for the first time in this study should prove relevant for genetic counselling and CF population screening in Brazil. Moreover, our results suggest the presence of a major Mediterranean component in the contemporary Brazilian CF patient pool.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/genética , Alelos , Brasil/epidemiología , Fibrosis Quística/epidemiología , Haplotipos , Humanos , Repeticiones de Microsatélite , Mutación , Polimorfismo de Longitud del Fragmento de Restricción
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...