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2.
Gerodontology ; 2023 Oct 04.
Artículo en Inglés | MEDLINE | ID: mdl-37792411

RESUMEN

OBJECTIVE: Latin American and Carribean (LAC) are currently experiencing a rapid aging of their population, coupled with a significant burden of oral diseases. Despites this, there is a scarcity of evidence regarding the manner in wich geriatric dentistry is being taught in dental schools across LAC. So, the objective of this study is to investigate the current status of geriatric dentistry education at undergraduate and postgraduate levels in selected LAC dental schools. METHODS: An electronic questionnaire was developed and emailed to all 539 dental schools in 19 LAC countries. The questionnaire recorded activity levels, contents and methodology of geriatric dentistry education as part of dental degree programmes. Reminders by email and telephone calls were used to encourage non-responders to complete the questionnaire. RESULTS: In total, 317 schools from 17 countries responded to the questionnaire (response rate: 58.8%). Geriatric dentistry was taught in 54.6% of the schools at the undergraduate level and in 6.9% at the postgraduate level. Thirty two percent of the schools had a programme director trained in geriatric dentistry. Geriatric dentistry was taught as an independent course in 14.5% of the schools. Dry mouth, periodontal disease, denture-related conditions and prosthodontic management, oral mucosal disease and age-related changes of the orofacial complex were the most frequently covered topics. Clinical teaching of geriatric dentistry was reported by 26.5% of the schools, with 38.0% providing clinical training in outreach facilities. CONCLUSIONS: Geriatric dentistry education remains incipient in LAC, with only one in every four dental school offering it as a standalone course. There is an urgent need to further develop geriatric dentistry education in the continent, including further research to develop a minimum geriatric dentistry curriculum.

3.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1514266

RESUMEN

Los cambios demográficos y epidemiológicos actuales determinarán un aumento en la prevalencia e incidencia de caries, específicamente lesiones de caries radicular (RCLs, por sus siglas en inglés) en personas mayores, por lo que la necesidad de tratamiento de mayor cobertura y efectividad será también cada vez mayor. Este artículo resume en español la evidencia actual disponible acerca de las recomendaciones clínicas para las intervenciones preventivas, no invasivas, micro o mínimamente invasivas e invasivas para el manejo de la caries dental en personas mayores, con especial énfasis en RCLs. La presente publicación se basa en un taller de consenso, seguido de un proceso de consenso e-Delphi, realizado por un panel de expertos nominados por la Organización Europea para la Investigación en Caries (ORCA), la Federación Europea de Odontología Conservadora (EFCD) y la Federación Alemana de Odontología Conservadora (DGZ). El propósito de este artículo es presentar las principales conclusiones alcanzadas en el consenso de ORCA/EFCD/DGZ para permitir una mejor difusión del conocimiento y la aplicación de estos conceptos en la práctica clínica, orientando la correcta toma de decisiones en el manejo de la enfermedad y RCLs en las personas mayores.


Current demographic and epidemiological changes will condition increased caries prevalence and incidence, specifically root caries lesions (RCLs) in the elderly. There will be a need, therefore, for therapeutic approaches with greater coverage and effectiveness. This article summarizes, in Spanish, the current available evidence leading to clinical recommendations for preventive, non-invasive, micro or minimally invasive and invasive interventions for the management of dental caries in older people, with special emphasis on RCLs. This publication is based on a consensus workshop, followed by an e-Delphi consensus process, conducted by a panel of experts nominated by the European Organization for Caries Research (ORCA), the European Federation of Conservative Dentistry (EFCD) and the German Federation of Conservative Dentistry (DGZ). The purpose of this article is to present the main conclusions reached in the ORCA/EFCD/DGZ consensus to allow a better dissemination of knowledge and the application of these concepts in clinical practice, guiding the correct decision-making for the disease management and the RCLs in the elderly.

4.
J Med Genet ; 60(7): 644-654, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36446582

RESUMEN

BACKGROUND: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving ANKRD11 cause KBG syndrome, but no genotype-phenotype correlation has been reported. METHODS: 67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire. Manifestations present in >50% of the patients and a 'phenotypical score' were used to perform a genotype-phenotype correlation in 340 patients from our cohort and the literature. RESULTS: Neurodevelopmental delay, macrodontia, triangular face, characteristic ears, nose and eyebrows were the most prevalentf (eatures. 82.8% of the patients had at least one of seven main comorbidities: hearing loss and/or otitis media, visual problems, cryptorchidism, cardiopathy, feeding difficulties and/or seizures. Associations found included a higher phenotypical score in patients with sequence variants compared with CNVs and a higher frequency of triangular face (71.1% vs 42.5% in CNVs). Short stature was more frequent in patients with exon 9 variants (62.5% inside vs 27.8% outside exon 9), and the prevalence of intellectual disability/attention deficit hyperactivity disorder/autism spectrum disorder was lower in patients with the c.1903_1907del variant (70.4% vs 89.4% other variants). Presence of macrodontia and comorbidities were associated with larger deletion sizes and hand anomalies with smaller deletions. CONCLUSION: We present a detailed phenotypical description of KBG syndrome in the largest series reported to date of 67 patients, provide evidence of a genotype-phenotype correlation between some KBG features and specific ANKRD11 variants in 340 patients, and propose updated clinical diagnostic criteria based on our findings.


Asunto(s)
Anomalías Múltiples , Trastorno del Espectro Autista , Enfermedades del Desarrollo Óseo , Discapacidad Intelectual , Anomalías Dentarias , Masculino , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/genética , Anomalías Múltiples/diagnóstico , Enfermedades del Desarrollo Óseo/genética , Anomalías Dentarias/genética , Facies , Trastorno del Espectro Autista/genética , Variaciones en el Número de Copia de ADN , Proteínas Represoras/genética , Deleción Cromosómica , Fenotipo , Factores de Transcripción/genética
5.
Artículo en Inglés | LILACS | ID: biblio-1428550

RESUMEN

OBJECTIVE: Prior epidemiological surveys revealed that Chile experiences a high burden of oral diseases. However, no prior study has reported estimates of untreated dental caries, periodontitis, and edentulism over a three-decade period for the country. Using estimates of the Global Burden of Diseases Study (GBD) 2019, the objective of this study is to report the trends of prevalence, incidence, and years-lived with disability (YLDs) due to untreated dental caries, periodontitis, and edentulism in Chilean older adults between 1990 and 2019. METHODS: Estimates of prevalence, incidence, and YLDs due to dental caries, periodontitis, and edentulism were produced for Chile, by age and sex, between 1990 and 2019, using Dismod-MR 2.1. Trends of oral disorders were analyzed using generalized linear regression models applying the Prais-Winsten method. RESULTS: Untreated dental caries and periodontal disease showed an increase in prevalence and YLDs, whereas edentulism prevalence, incidence, and YLDs decreased in all older adults age groups. The incidence of dental caries decreased in the younger groups and increased in the older age groups; while the incidence of periodontal disease increased in the younger and decreased in the older age groups. CONCLUSIONS: Overall, the burden of oral diseases in older Chileans increased between 1990 and 2019. This was particularly relevant for untreated caries and periodontal disease. Future estimates of oral diseases burden in Chile require concerted efforts to produce national health surveys that incorporate oral diseases metrics. These estimates are essential to inform policy formulation, implementation and evaluation. (AU)


OBJETIVO: Pesquisas epidemiológicas anteriores revelaram que o Chile apresenta uma elevada carga de doenças bucais. No entanto, nenhum estudo anterior relatou estimativas de cárie dentária não tratada, periodontite e edentulismo ao longo de um período de três décadas para o país. Usando estimativas do Global Burden of Diseases Study (GBD) 2019, o objetivo deste estudo é relatar as tendências de prevalência, incidência e anos vividos com incapacidade (YLDs) devido a cárie dentária não tratada, periodontite e edentulismo em idosos chilenos entre 1990 e 2019. METODOLOGIA: Estimativas de prevalência, incidência e YLDs devido à cárie dentária, periodontite e edentulismo foram produzidas para o Chile, por idade e sexo, entre 1990 e 2019, usando o Dismod-MR 2.1. Tendências de distúrbios bucais foram analisadas usando modelos de regressão linear generalizada aplicando o método Prais-Winsten. RESULTADOS: A cárie dentária não tratada e a doença periodontal mostraram um aumento na prevalência e nos YLDs, enquanto a prevalência, incidência e YLDs do edentulismo diminuíram em todas as faixas etárias de idosos. A incidência de cárie dentária diminuiu nos grupos mais jovens e aumentou nos grupos etários mais velhos; enquanto a incidência de periodontite aumentou nos grupos mais jovens e diminuiu nos grupos etários mais velhos. CONCLUSÕES: No geral, a carga de doenças bucais em idosos chilenos aumentou entre 1990 e 2019. Isso foi particularmente relevante para cárie não tratada e periodontite. As estimativas futuras da carga de doenças bucais no Chile exigem esforços concentrados para produzir pesquisas nacionais de saúde que incorporem métricas de doenças bucais. Essas estimativas são essenciais para informar a formulação, implementação e avaliação de políticas. (AU)


Asunto(s)
Humanos , Anciano , Anciano de 80 o más Años , Enfermedades Periodontales/epidemiología , Boca Edéntula/epidemiología , Caries Dental/epidemiología , Chile/epidemiología , Incidencia , Prevalencia
6.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1421732

RESUMEN

La mayor expectativa de vida de la población mundial ha llevado a una mayor conservación dentaria y como consecuencia, a una mayor prevalencia de caries radicular en la población mayor. La información epidemiológica ha mostrado que el enfoque invasivo de la odontología restauradora no ha sido capaz de dar una solución a esta problemática de salud pública. El enfoque de la Minimal Intervention Dentistry (MID), a través de las terapias no invasivas (TNIs) en base a fluoruros de alta concentración, podrían ser la clave para abordar esta problemática debido a su enfoque conservador, centrado en el paciente y a través del curso de vida. Este artículo pretende mostrar la evidencia existente acerca de las TNIs en base a fluoruros de alta concentración más utilizadas para lesiones de caries radicular (RCLs), a saber, los dentífricos de 5.000 ppm, barnices de flúor y fluoruro diamino de plata. La evidencia científica demuestra que estas TNIs son una alternativa terapéutica en población mayor a pesar de la aun limitada evidencia científica existente para este grupo etario. Por lo tanto, se requieren mayores estudios en población mayor que sustenten estas intervenciones clínicas, principalmente en aquella población con compromiso funcional y/o cognitivo.


The longer life expectancy of the world population has led to a greater dental conservation and, as a consequence, to a higher prevalence of root caries in the elderly population. Epidemiological data have shown that the invasive approach of restorative dentistry has not been able to provide a solution to this public health problem. The Minimal Intervention Dentistry (MID) approach, through non-invasive therapies (NIT) based on high-concentration fluorides, could be the key to address this problem due to its conservative, patient-centered and life-course approach. This article aims to show the existing evidence about the most commonly used high-concentration fluoride-based NITTs for root caries lesions (RCLs), namely 5,000 ppm dentifrices, fluoride varnishes and silver diamine fluoride. The scientific evidence shows that these NITs are a therapeutic alternative in the elderly population despite the still limited scientific evidence for this age group. Therefore, further studies are required in the elderly population to support these clinical interventions, mainly in the population with functional and/or cognitive compromise.

7.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1421741

RESUMEN

Objetivo: Investigar las percepciones y preocupaciones de los estudiantes de odontología respecto a la pandemia de COVID-19, sus estrategias de afrontamiento, recursos de apoyo y sus niveles de estrés percibidos. Materiales y Métodos: Se utilizó una muestra de estudiantes de odontología chilenos, pertenecientes a un estudio multicéntrico a quienes se les aplicó una encuesta anónima virtual de 20 ítems y la Escala de Estrés Percibido (PSS-10). Se realizó estadística descriptiva, pruebas bivariadas y un modelo de regresión lineal entre las variables. Resultados: Participaron 393 estudiantes (70,7%), mayoritariamente mujeres (N=268, 68,2%). Declaran que la escuela ha realizado moderados esfuerzos para transitar hacia la educación telemática (N=181, 46,2%), considerando estos cambios estresantes (N=270, 68,7%). Manifiestan estar muy preocupados por el impacto en su formación profesional (N=261, 66,6%) y sienten moderado apoyo de la escuela (N=197, 50,1%). PSS fue 21,64 (±6,2) calificando como estrés moderado, siendo sus predictores el sexo femenino, cursos preclínicos y escaso apoyo de la escuela y familia (p<0,05). Conclusiones: Los niveles de estrés de los estudiantes se ven alterados durante la pandemia, manifiestan estar muy preocupados por el impacto en su formación profesional y tiempo estimado de graduación. Se recomienda realizar intervenciones en salud mental y en el proceso educativo.


Objective: to determine dental students' perceptions and concerns regarding the COVID-19 pandemic, and to explore their coping strategies, support resources and perceived stress levels. Methods: Chilean dental students were sampled from a multinational study. An online survey was applied, including 20 items and the Perceived Stress Scale (PSS-10). Descriptive, bivariate and multivariate statistical analyses were computed. Results: 393 dental students participated (70,7%) and the majority were females (N=268, 68,2%). Students perceived that the school had done moderate efforts for the transition to online education (N=181, 46,2%), considering the changes as stressful (N=270, 68,7%). Students were very worried about how the pandemic impacted their professional training (N=261, 66,6%) and perceived moderate support from the dental school (N=197, 50,1%). The PSS score was 21,64 (±6,2), categorized as moderate stress. Predictors for stress were female, pre-clinical courses and lack of support from the family and from the dental school (p<0,05). Conclusion: Dental students' stress levels have been altered during the pandemic. Students reported high concerns regarding the impact of the pandemic on their professional education and time until graduation. Interventions aiming at students' mental health during the educational process are recommended.

8.
Front Oral Health ; 3: 764479, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36092137

RESUMEN

New paradigms in caries conceptualization have emerged during the last decades, leading to intense debate and discussion on how to approach the disease, both from a preventive and a therapeutic perspective. Among many new ideas, research discoveries and technologies, one major concept can be highlighted that created a deep frontier between the old and the new paradigm in caries conceptualization; the non-communicable nature of the disease, firmly associated with behaviors and lifestyles. This article synthetizes the conceptual construction of dental caries as a non-communicable disease (NCD) based on the current evidence and discusses the appropriate management of the disease in this context. Dental caries has shifted from being considered transmissible and infectious to an ecological and non-communicable disease. Environmental factors such as frequent sugars intake, disrupt the symbiosis of the dental biofilm leading to a dysbiosis, which favors caries lesion initiation and progression. As an NCD, dental caries shares characteristics with other NCDs such as cardiovascular and chronic respiratory diseases, cancer and diabetes, including long duration and slow progression, not being transmissible from person-to-person, being strongly related to modifiable behavioral risk factors, and affecting preferentially disadvantaged populations with a strong inequality gradient. Given the high prevalence of dental caries, and its consequences on people's health and quality of life, a recognizable conceptual view of caries as a NCD is required to target an effective management. Current understanding of dental caries supports prevention through acting on the modifiable risk factors (behaviors) and involves management based on an interdisciplinary approach. Communicating these modern concepts among researchers, clinicians and policymakers is needed to decrease the global high burden of the disease.

9.
J Clin Med ; 11(10)2022 May 12.
Artículo en Inglés | MEDLINE | ID: mdl-35628876

RESUMEN

Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis and next-generation sequencing. The rate of diagnosis increased exponentially with the addition of genes to successive versions of the INMD panel, from 31% for the first iteration (278 genes) to 40% for the last (324 genes). The global mean diagnostic rate was 36% (97/268 patients), with a diagnostic turnaround time of 4-6 weeks. Most diagnoses corresponded to muscular dystrophies/myopathies (68.37%) and peripheral nerve diseases (22.45%). The most common causative genes, TTN, RYR1, and ANO5, accounted for almost 30% of the diagnosed cases. Finally, we evaluated the utility of the differential diagnosis tool Phenomizer, which established a correlation between the phenotype and molecular findings in 21% of the diagnosed patients. In summary, comprehensive gene-panel analysis of all genes implicated in neuromuscular diseases facilitates a rapid diagnosis and provides a high diagnostic yield.

10.
Int J Mol Sci ; 23(8)2022 Apr 11.
Artículo en Inglés | MEDLINE | ID: mdl-35457051

RESUMEN

In the last few years, the SORL1 gene has been strongly implicated in the development of Alzheimer's disease (AD). We performed whole-exome sequencing on 37 patients with early-onset dementia or family history suggestive of autosomal dominant dementia. Data analysis was based on a custom panel that included 46 genes related to AD and dementia. SORL1 variants were present in a high proportion of patients with candidate variants (15%, 3/20). We expand the clinical manifestations associated with the SORL1 gene by reporting detailed clinical and neuroimaging findings of six unrelated patients with AD and SORL1 mutations. We also present for the first time a patient with the homozygous truncating variant c.364C>T (p.R122*) in SORL1, who also had severe cerebral amyloid angiopathy. Furthermore, we report neuropathological findings and immunochemistry assays from one patient with the splicing variant c.4519+5G>A in the SORL1 gene, in which AD was confirmed by neuropathological examination. Our results highlight the heterogeneity of clinical presentation and familial dementia background of SORL1-associated AD and suggest that SORL1 might be contributing to AD development as a risk factor gene rather than as a major autosomal dominant gene.


Asunto(s)
Enfermedad de Alzheimer , Demencia , Enfermedad de Alzheimer/diagnóstico por imagen , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/patología , Predisposición Genética a la Enfermedad , Humanos , Proteínas Relacionadas con Receptor de LDL/genética , Proteínas de Transporte de Membrana/genética , Neuroimagen
11.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1385243

RESUMEN

RESUMEN: Objetivo: Sintetizar los resultados de estudios epidemiológicos sobre Traumatismo Dentoalveolar (TDA) en la población chilena. Material y métodos: Se realizó una revisión sistemática de la literatura para identificar estudios poblacionales a nivel nacional, regional, provincial y comunal, además de datos de servicios dentales de atención primaria y secundaria sobre TDA en Chile. Resultados: Se incluyeron 2 estudios con representatividad nacional y 8 realizados en centros de atención en salud. A nivel nacional, la prevalencia de TDA a los 6 años fue de un 2.57%, y a los 12 años, 4.97%. En los estudios realizados en centros de salud, el diagnóstico más prevalente en dentición primaria fueron las lesiones de tejidos de soporte y en dentición permanente, la fractura coronaria. Fue más frecuente la afectación de un solo diente, y los incisivos centrales superiores fueron los dientes más afectados. Conclusiones: Los estudios representativos de la población en Chile son escasos, realizados hace más de una década y representativos sólo de la población de 6 y 12 años, lo cual pone de manifiesto la necesidad de mayor información epidemiológica sobre el TDA en la población chilena.


ABSTRACT: Aim: To summarize the evidence on epidemiological studies about traumatic dental injuries (TDI) in Chile. Methods: A systematic literature review was carried out in two databases to identify population studies at national, regional, provincial and community levels, as well as reports from primary and secondary dental care services, regarding TDI in Chile. Results: Two studies with national representation and eight studies from primary and secondary healthcare centers were included in the analysis. National prevalence for 6-year-old children was 2.57%, and 4.97% for 12-year-old children. While the most frequent diagnosis in primary dentition was traumatic injury involving tooth-supporting tissues, the most commonly reported diagnosis in permanent dentition was crown fracture. Single tooth affection was more frequent, and the upper central incisors were the most affected teeth. Conclusions: Data on representative studies about TDIs in Chile are scarce. Few studies, carried out more than a decade ago and only on 6- and 12-year-old children are available. There is a need for further epidemiological information about TDIs in Chile.

12.
Genes (Basel) ; 12(4)2021 04 12.
Artículo en Inglés | MEDLINE | ID: mdl-33921431

RESUMEN

Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. Current guidelines recommend chromosomal microarray (CMA) and a FMR1 testing as first-tier tests, but there is increasing evidence that support the use of NGS for the diagnosis of NDDs. Specifically in ASD, it has not been extensively evaluated and, thus, we performed and compared the clinical utility of CMA, FMR1 testing, and/or whole exome sequencing (WES) in a cohort of 343 ASD patients. We achieved a global diagnostic rate of 12.8% (44/343), the majority of them being characterised by WES (33/44; 75%) compared to CMA (9/44; 20.4%) or FMR1 testing (2/44; 4.5%). Taking into account the age at which genetic testing was carried out, we identified a causal genetic alteration in 22.5% (37/164) of patients over 5 years old, but only in 3.9% (7/179) of patients under this age. Our data evidence the higher diagnostic power of WES compared to CMA in the study of ASD and support the implementation of WES as a first-tier test for the genetic diagnosis of this disorder, when there is no suspicion of fragile X syndrome.


Asunto(s)
Trastorno del Espectro Autista/diagnóstico , Secuenciación del Exoma/métodos , Proteína del Retraso Mental del Síndrome del Cromosoma X Frágil/genética , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Adolescente , Adulto , Factores de Edad , Algoritmos , Trastorno del Espectro Autista/genética , Niño , Preescolar , Cromosomas Humanos/genética , Diagnóstico Precoz , Femenino , Pruebas Genéticas , Humanos , Lactante , Masculino , Sensibilidad y Especificidad , Adulto Joven
13.
J Dent Educ ; 85(7): 1280-1286, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33772784

RESUMEN

PURPOSE/OBJECTIVES: To investigate dental students' perceptions and concerns regarding the COVID-19 pandemic, their coping strategies and support resources, and their perceived stress levels. METHODS: A customized 19-item survey and the perceived stress scale (PSS) were applied to undergraduate dental students from the US, Spain, Ireland, Chile, India, and Brazil between April 10 and July 5, 2020. Linear modeling and mediation analysis were used to explore the relationships among demographics, stressors, coping mechanisms, social support, and stress RESULTS: A total of 4475 students responded to the survey. The majority (72.4%) were women, and 52.3% had no COVID-19 training at the time of the survey. The students reported that they had to accommodate to changes in patient care (96.6%) and didactic learning (95.2%) activities, while 88.5% of the respondents indicated at least one of their courses moved online. Transition to online courses went "smoothly with some troubles" for 51.8% of the respondents, and 48.3% perceived the faculty as prepared for the online transition; however, 45.9% reported feeling extremely concerned about the impact of COVID-19 on their education. The average PSS score was 21.9 of 40 (moderate stress). Multivariate models were built for participants with full data (n = 3899). Being male, having completed more dental coursework, and perceiving a smoother transition were associated with lower PSS scores; more concern about academic progress was associated with higher PSS. Faculty support mediated the relationship between a smoothness of transition and concern about academic progress and PSS scores CONCLUSION: Stress caused by the pandemic may be alleviated by smoother transition and good faculty support.


Asunto(s)
COVID-19 , Pandemias , Brasil , Chile , Femenino , Humanos , India , Masculino , SARS-CoV-2 , Estudiantes de Odontología , Encuestas y Cuestionarios
14.
Neurol India ; 69(6): 1835-1837, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34979702

RESUMEN

BACKGROUND: Laminopathies are a group of diseases caused by mutations in the LMNA gene. Congenital dystrophy of the LMN is a rare disease, with less than 100 cases described in the literature. OBJECTIVES AND MATERIALS AND METHODS: We present the clinical case of a patient with congenital muscular dystrophy associated with an undescribed mutation in the LMNA gene. RESULTS: The patient presented progressive motor delay from 10 months with a physical examination consisting of global hypotonia, bilateral winged scapula, areflexia, hip and knee flexion posture, and positive Gowers. The patient developed progressive weakness with neck tone loss, functional impairment, and loss of gait at 5 years. CONCLUSIONS: To date, more than 20 mutations associated with congenital LMNA muscular dystrophy have been identified, most due to a single amino acid change (aa), few due to the gain or loss of several aa as in our patient.


Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Distrofias Musculares , Humanos , Lamina Tipo A/genética , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Mutación/genética , Fenotipo
15.
Int. j interdiscip. dent. (Print) ; 13(3): 140-147, dic. 2020. tab
Artículo en Español | LILACS | ID: biblio-1385162

RESUMEN

RESUMEN: Este artículo realiza una revisión y síntesis de las principales encuestas poblacionales de salud en Chile. Se describen sus principales características y hallazgos con el objetivo de orientar a los profesionales odontólogos en el conocimiento de material existente para el diagnóstico odontológico objetivo, así como el impacto de la salud oral en la calidad de vida, a nivel poblacional.


ABSTRACT: This article makes a brief review and synthesis of national health surveys in Chile. The article describes the main characteristics and findings in order to guide dental professionals with the knowledge of the existing material for an objective population oral health diagnosis, as well as the impact of oral health on quality of life of the population.


Asunto(s)
Humanos , Odontólogos , Chile , Encuestas y Cuestionarios
16.
Int. j interdiscip. dent. (Print) ; 13(3): 147-150, dic. 2020.
Artículo en Español | LILACS | ID: biblio-1385163

RESUMEN

RESUMEN: Si bien la salud bucal de las personas mayores en Chile y el mundo ya era deficiente, es esperable que los estragos en materia sanitaria, producto de la COVID-19, acentúen este deterioro, particularmente en aquellos con limitaciones cognitivas o funcionales, perpetuando la desigualdad de acceso a la atención odontológica y con ello empeorando su condición de salud bucal y su calidad de vida. La emergente Odontogeriatría debe potenciarse y fortalecerse ante esta verdadera catástrofe sanitaria que se espera ocurra durante y post pandemia. Para ello, no se precisan nuevos desarrollos científicos o tecnológicos, sino la implementación de filosofías y aproximaciones ya disponibles, como son la adopción sistemática de la Teleodontología y de la Odontología de Mínima Intervención (MID). La atención domiciliaria también aparece como una estrategia necesaria ante este nuevo escenario. Este artículo analiza y discute la situación de salud bucal de las personas mayores durante estos complejos tiempos que vive Chile y la humanidad. La pandemia por COVID-19 es una oportunidad única de replantear tanto la práctica clínica como la educación en Odontología, introduciendo nuevos paradigmas, dándole un enfoque de curso de vida e implementando medidas destinadas a corregir las grandes desigualdades con que viven las personas mayores.


ABSTRACT: Although oral health of older people in Chile and the world was already poor, it is expected that the COVID-19 pandemic will increase oral deterioration, particularly in those with cognitive or functional limitations, perpetuating access inequality to dental care and worsening the oral condition and quality of life. Emerging geriatric dentistry should be strengthened in the context of this health catastrophe, expected to occur during and after the pandemic. To face this challenge, no new scientific or technological developments are required, but the implementation of already available philosophies and approaches, such as the systematic adoption of Teledentistry and Minimum Intervention Dentistry (MID). Home care also appears as a necessary strategy in this new scenario. This article analyzes and discusses the oral health situation of older people in these complex times experienced by Chile and the humanity. The COVID-19 pandemic is a unique opportunity to rethink both clinical practice and education in Dentistry, introducing new paradigms, giving it a life course approach and implementing measures aimed at correcting the outrageous inequalities for older people.


Asunto(s)
Humanos , Anciano , Anciano de 80 o más Años , Salud Bucal , COVID-19
17.
Int. j interdiscip. dent. (Print) ; 13(2): 88-94, ago. 2020. tab
Artículo en Español | LILACS | ID: biblio-1134348

RESUMEN

RESUMEN: Objetivo: Sintetizar los resultados sobre los estudios epidemiológicos de caries dental, enfermedad periodontal, desdentamiento y lesiones de mucosa oral de base poblacional con representatividad nacional y regional en adultos chilenos (≥15 años). Materiales y métodos: Se realizó una revisión narrativa para identificar aquellos estudios de diagnóstico de salud bucal, a nivel nacional y/o regional, en población adulta de Chile (≥15 años), con el objetivo de establecer prevalencias para las patologías bucales de mayor relevancia nacional. Resultados: Se identificaron 6 estudios de representatividad nacional y 7 estudios de representatividad regional. Se reporta una disminución en la prevalencia de caries cavitadas y de dentición no funcional, correspondiendo a un 54.6% y 27.0%, respectivamente. La prevalencia de pérdida de inserción clínica ≥4mm., es cercana al 100%. La lesión de mucosa oral más prevalente fue la estomatitis subprotésica (22.3%). Se observaron inequidades socieconómicas y culturales en la distribución de las patologías orales en la población adulta chilena. Conclusiones: Existe una alta prevalencia de enfermedad periodontal, caries, desdentamiento y lesiones de mucosa oral en adultos y adultos mayores chilenos.


ABSTRACT Aim: To synthesize results of epidemiologic national and regional studies about dental caries, periodontal diseases, tooth loss and oral mucosa lesions in Chilean adults (≥15 years- old). Methods: A narrative revision was made in order to identify epidemiologic national or regional studies in Chilean adults (≥15 years- old). The objective was to establish the prevalence of the most common oral diseases. Results: Six national and seven regional studies were identified. The prevalence of non-treated caries and non- functional dentition was reduced to 54.6% and 27.0%, respectively. The prevalence of periodontal attachment loss ≥4mm. was almost 100%. The most frequent oral mucosa lesion was denture stomatitis (22.3%). Socioeconomic and cultural disparities were observed in the distribution of oral diseases in Chilean adults. Conclusions: The prevalence of dental caries, periodontal diseases, tooth loss and oral mucosa lesions was high in Chilean adults and elderly people.


Asunto(s)
Humanos , Enfermedades Periodontales , Salud Bucal , Caries Dental , Diagnóstico , Chile
18.
Heart ; 106(17): 1342-1348, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32451364

RESUMEN

OBJECTIVE: Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role in HCM is limited. We sought to investigate the relationship between rare variants in TRIM63 and the development of HCM. METHODS: TRIM63 was sequenced by next generation sequencing in 4867 index cases with a clinical diagnosis of HCM and in 3628 probands with other cardiomyopathies. Additionally, 3136 index cases with familial cardiovascular diseases other than cardiomyopathy (mainly channelopathies and aortic diseases) were used as controls. RESULTS: Sixteen index cases with rare homozygous or compound heterozygous variants in TRIM63 (15 HCM and one restrictive cardiomyopathy) were included. No homozygous or compound heterozygous were identified in the control population. Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy. The mean age at diagnosis was 35 years (range 15-69). Fifty per cent of patients had concentric left ventricular hypertrophy (LVH) and 45% were asymptomatic at the moment of the first examination. Significant degrees of late gadolinium enhancement were detected in 80% of affected individuals, and 20% of patients had left ventricular (LV) systolic dysfunction. Fifty per cent had non-sustained ventricular tachycardia. Twenty per cent of patients suffered an adverse cerebrovascular event (20%). CONCLUSION: TRIM63 appears to be an uncommon cause of HCM inherited in an autosomal-recessive manner and associated with concentric LVH and a high rate of LV dysfunction.


Asunto(s)
Cardiomiopatía Hipertrófica/genética , Hipertrofia Ventricular Izquierda/genética , Proteínas Musculares/genética , Mutación , Proteínas de Motivos Tripartitos/genética , Ubiquitina-Proteína Ligasas/genética , Disfunción Ventricular Izquierda/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Cardiomiopatía Hipertrófica/diagnóstico , Cardiomiopatía Hipertrófica/fisiopatología , Estudios de Casos y Controles , Niño , Análisis Mutacional de ADN , Europa (Continente) , Femenino , Predisposición Genética a la Enfermedad , Herencia , Heterocigoto , Secuenciación de Nucleótidos de Alto Rendimiento , Homocigoto , Humanos , Hipertrofia Ventricular Izquierda/diagnóstico , Hipertrofia Ventricular Izquierda/fisiopatología , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Medición de Riesgo , Factores de Riesgo , Disfunción Ventricular Izquierda/diagnóstico , Disfunción Ventricular Izquierda/fisiopatología , Función Ventricular Izquierda , Remodelación Ventricular , Adulto Joven
19.
J Dent ; 86: 110-117, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-31176788

RESUMEN

OBJECTIVE: Self-administered non-invasive therapies with high-fluoride dentifrices are an attractive alternative to traditional restorative management of root carious lesions (RCLs), but the available evidence is still scarce, particularly in community-dwelling elders. The aim of this randomized controlled trial (RCT) was to compare the effectiveness of toothbrushing with 5,000 ppm versus 1,450 ppm fluoridated dentifrice (F- dentifrice) on preventing and arresting RCLs, in community-dwelling elders. METHODS: A two years double-blinded RCT was carried out with 345 independently-living older adults, with at least one tooth with RCL. Participants were instructed to brush twice per day with either high-fluoride (5,000 ppm F) or the control dentifrice (1,450 ppm F). Incidence of new and arrested existing RCLs was recorded at two years and compared with the baseline data. Linear mixed regression model with repeated measures were used to test differences between groups (p < 0.05). RESULTS: The percentage of teeth with active lesions varied significantly at two years, but in opposite directions for both groups. While the control group significantly increased the mean percentage of RCLs activity from baseline to two years, from 24.32% to 40.52%, the intervention decreased the percentage of activity from 29.74% to 3.72%. The incidence of RCL was 93.5% and 35.2% in participants of the 1,450 ppm and 5,000 ppm in the F- dentifrice groups, respectively, with a relative risk (RR) of 0.10 [CI: 0.05 - 0.19]. CONCLUSION: Non-invasive treatment with 5,000 ppm F dentifrice is more effective than conventional dentifrices in preventing and arresting RCLs in community dwelling elders. ClinicalTrials.gov NCT02647203. CLINICAL SIGNIFICANCE: RCLs can be effectively prevented and arrested with the use of 5,000 ppm F dentifrice. Oral health programs directed to community-dwelling older adults might benefit from the inclusion of high fluoride dentifrice in their portfolio.


Asunto(s)
Caries Dental , Dentífricos , Fluoruros , Caries Radicular , Anciano , Cariostáticos , Humanos , Vida Independiente , Fluoruro de Sodio
20.
Int Dent J ; 69(1): 58-66, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30028021

RESUMEN

PURPOSE: Non-invasive treatment of root caries lesions (RCLs) may impact oral health-related quality of life (OHRQoL), but no evidence is available. The purpose of the study was to assess changes in OHRQoL among patients exposed to non-invasive treatment of RCLs with conventional or high-fluoride dentifrices. METHODS: To be eligible, subjects had to be ≥60 years of age, independently living, with at least five teeth and one RCL. The 14-item Oral Health Impact Profile for adults in Spanish (OHIP-14Sp), oral examination and sociodemographic data were documented at the beginning of the study (T0). The presence and activity of RCLs were detected and diagnosed. Subjects were randomly assigned to either the control (1,450 ppm fluoride) or the experimental (5,000 ppm fluoride) treatment group. A new set of measurements was obtained at 12 months (T1). Mean comparisons were carried out using the Student's t-test for total OHIP-14Sp scores. To determine whether T1 OHRQoL scores were different regarding sex, age, educational level and socio-economic status, mean OHIP-14Sp scores were obtained and compared with those variables at 12 months. RESULTS: An overall improvement in OHRQoL after the non-invasive treatment of RCLs was verified when T1 was compared with T0 (P < 0.0001). Regarding treatment type, no significant differences were detected between groups (P = 0.114). Subjects with higher income and more years of formal education had better OHRQoL than those with a lower salary (P < 0.0001) and with fewer years of education (P = 0.0006). CONCLUSIONS: Non-invasive treatment for RCLs in community-dwelling elders appears to cause a positive impact on OHRQoL. Better OHRQoL was associated with higher socio-economic status and educational level. No significant differences were detected regarding the fluoride concentration in the dentifrices.


Asunto(s)
Fluoruros/administración & dosificación , Vida Independiente , Salud Bucal , Calidad de Vida , Caries Radicular/prevención & control , Pastas de Dientes/administración & dosificación , Anciano , Encuestas de Salud Bucal , Estatus Económico , Escolaridad , Femenino , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Autoadministración
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