Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

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.

Current status of geriatric dentistry education in selected dental schools in Latin America and the Caribbean.

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.

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

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.

Oral health of the Latin American elders: What we know and what we should do-Position paper of the Latin American Oral Geriatric Group of the International Association for Dental Research.

OBJECTIVE: The purpose of this review was to gather information and discuss oral health status of older people in the Latin American and Caribbean region (LAC). BACKGROUND: Scarce data are available to portrait the oral situation of older people in the region. MATERIAL AND METHODS: This review paper is the result of a meeting of the IADR's Latin American Geriatric Oral Research Group held in Porto Alegre, Brazil, in November of 2016, part of the activities of an IADR Regional Development Programme (RDP). A group of researchers from 8 countries of LAC held a discussion using 5 questions related to the oral health situation of older Latin Americans, the most appropriate strategies to face the problem and the challenges for the future, with an open discussion format. In a second step, a group of 6 experts refined the answers and reviewed the existent literature. RESULTS: The review of the evidence revealed that only a few LAC countries have information, which suggests the need for multinational efforts to understand the oral health status and programmes in place. Of the few studies available, it is possible to observe poor oral health as a common feature of older adults in the region. CONCLUSION: There is a need for the development of national surveys and standardised tools for the assessment of oral health in older adults. Also, intense advocacy to modify and influence public health policies in the different countries of the LAC is strongly recommended.

Geriatric dentistry content in the curriculum of the dental schools in Chile.

OBJECTIVE: The purpose of this study was to identify the status of pre-doctoral geriatric dentistry education among all Chilean dental schools. BACKGROUND: Chile is one of the most rapidly ageing countries in Latin America. Consequently, specific knowledge and training on the needs of elderly populations need to be emphasised in dental schools. The current extent and methods of teaching geriatric dentistry among the dental schools in Chile are unknown. MATERIALS AND METHODS: A web-based questionnaire was developed and sent to all 19 Chilean dental schools to identify which schools had a formal programme on geriatric dentistry and ask about their format, content and type of training of the faculty who taught in the programmes. Data were analysed, and a comparison was made among the schools. RESULTS: Sixteen (84%) of the participant schools reported teaching at least some aspects of geriatric dentistry, using various methodologies, but only 7 (37%) had specific courses. Of those schools reporting a didactic content on geriatric dentistry, 71% included clinical training, either in the school's dental clinics or in an extramural service. Contents mostly included demographics of ageing, theories of ageing and medical conditions. More than half of the faculty (57%) stated that they had formal training in geriatric dentistry, 43% were trained in prosthodontics, public health or other areas. CONCLUSIONS: Although most dental schools taught geriatric dentistry, only some had a specific course. Most schools with formal courses followed the international curriculum guidelines for geriatric dentistry.

Validation of the Spanish version of the oral health impact profile to assess an association between quality of life and oral health of elderly Chileans.

OBJECTIVE: To validate the Spanish version of the OHIP-49 among elderly population. BACKGROUND: Oral health, as a predictor of quality of life, can be evaluated using validated instruments. One of the most commonly used instruments worldwide is the Oral Health Impact Profile-49 (OHIP-49). This instrument has not yet been validated in Chilean older adults. MATERIALS AND METHODS: Interviews and clinical exams were performed in a convenience sample of eighty-five elderly participants aged 60 or more years (mean 69.02 ± 7.82 years). Socio-demographic and clinical variables were analysed: number of teeth, caries, periodontal and prosthetic treatment needs and prosthetic functionality. RESULTS: High internal consistency values were obtained for both the OHIP-49 Sp instrument (0.990) and all of its dimensions (0.875-0.995). The average score of the OHIP-49 Sp was 62.54 ± 43.73. Significantly higher OHIP-49 Sp scores were observed in participants with caries (p = 0.01), in those needing complex periodontal treatment (p = 0.0001) and those in need of dental prostheses (p ≤ 0.0001). CONCLUSION: The OHIP-49 Sp proved to be a valid tool to assess oral health-related quality of life, when tested in Chilean older adults.

[Reality and challenges of the oral health for older adults in Chile and the role of a new discipline: geriatric dentistry]. / Realidad y desafíos de la salud bucal de las personas mayores en Chile y el rol de una nueva disciplina: Odontogeriatría.

Chile is experiencing one of the fastest aging processes in Latin America. The implications derived from this phenomenon involve many aspects of the society, especially health care. In particular, insufficient oral health coverage in the country limits oral care provision for a population with a high prevalence and severity of oral diseases. These conditions include dental caries, periodontal disease, tooth loss, defective prostheses, oral mucosa lesions and xerostomia, among others, and strongly affect quality of life of the elderly population. Furthermore, dental curriculum of most dental schools lack specific training of students in geriatric dentistry or gerodontology. Hence, newly graduated professionals are not competent to satisfy the needs of this growing and increasingly demanding population of older adults. Within this demanding context, Chile may find the potential to become a model and referent to deal with the challenge, incorporating innovative changes in education and public health strategies for the older population by an interdisciplinary approach.

Negative ageing stereotypes in students and faculty members from three health science schools.

OBJECTIVE: To explore the ageing stereotypes held by health students and faculty members in three health science schools in Chile. METHODS: This cross-sectional study surveyed 284 students and faculty members from the dental, physical therapy and speech therapy schools of the University of Talca, Chile. A validated 15-question questionnaire about negative stereotypes was used (CENVE). The questions were divided into three categories: (i) health, (ii) social factors and motivation and (iii) character and personality. The scores for each category were grouped into the following categories: (i) positive, (ii) neutral and (iii) negative. Negative stereotypes were compared across genders, socio-economic status levels, classes, positions (student or faculty member) and schools. RESULTS: The majority of the participants held neutral stereotypes towards ageing, followed by positive perceptions. No differences were detected between the genders, schools or classes. While most of the students had neutral perceptions about ageing, the faculty's perceptions were rather positive (p = 0.0182). In addition, people of lower-middle socio-economic status held more positive stereotypes about ageing than the participants of high and middle status (p = 0.0496). CONCLUSION: Stereotypes about ageing held by health-related students and faculty members appear to be rather neutral. The stereotypes seem to be better among students with some clinical experience, students of lower socio-economic status and faculty members.

Validation of the Spanish version of the Oral Health Impact Profile (OHIP-14Sp) in elderly Chileans.

BACKGROUND: The OHIP-49 is widely used to assess oral health-related quality of life, but its length makes it time-consuming and difficult to use. An abbreviated version of the OHIP-49 with fourteen items has been validated for older adults, but not in Chile. The aim was to develop and validate the Spanish version of the OHIP-14 in an elderly Chilean population. METHODS: Two studies were conducted; a cross sectional to develop and a retrospective study to validate the OHIP-14Sp. The OHIP-49Sp was applied to 490 older adults and the fourteen questions with the higher impact on oral health-related quality of life were selected through linear regression. These items were applied on a retrospective dataset of 85 older adults to test internal consistency (Cronbach's alpha). A discriminative validity analysis was performed along with the assessment of sociodemographic (age and gender, educational level) and clinical variables (number of teeth, caries lesions, CPITN, prosthetic needs and prosthetic functionality). Data were analyzed using Mann-Whitney U, Student's t and one-way ANOVA tests with a 95% confidence level and finally were analyzed by a Multivariate Logistic Regression Model. RESULTS: High internal consistency values were obtained for the OHIP-14Sp instrument (0.91). There was an association between the OHIP-14Sp scores and the presence of caries (p = 0.003), need for complex periodontal treatment (p = 0.002), prosthetic needs (p < 0.0001) and age younger than 70 years-old (p < 0.0001). Subjects with periodontal treatment need were more likely to report reduced oral health-related quality of life (PR = 2.10). CONCLUSIONS: The OHIP-14Sp proved to be a consistent and valid tool to assess oral health-related quality of life when tested in Chilean older adults.

Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.

Familial hypocalciuric hypercalcemia is an uncommon cause of hypercalcemia that arises from mutations in the calcium-sensing receptor gene. Inactivation of this receptor leads to a decreased receptor sensitivity to calcium, determining that higher concentrations of calcium are needed to inhibit the release of parathormone in the parathyroid glands. Patients usually are asymptomatic. Diagnosis is usually made casually after a routine blood analysis. The syndrome is characterized by mild or moderate hypercalcemia, hypocalciuria, and normal or slightly increased levels of parathormone. The degree of hypercalcemia depends on the type of mutation. The accurate diagnosis is important since it is a benign disorder that does not require medical or surgical treatment. We report a 9-year-old female with persistent hypercalcemia in several routine blood analyses, who was diagnosed with familial hypocalciuric hypercalcemia after genetic studies were performed. A new mutation determining a nucleotide change c.2089G>A in the calcium-sensing receptor gene (exon 7) was detected. This mutation was also found in the patient's mother and brother.

Understanding dental caries as a non-communicable and behavioral disease: Management implications.

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.

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.

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.

Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenotype.

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.

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

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.

COVID-19 pandemic and its impact on dental students: A multi-institutional survey.

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.

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.

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.

High fluoride dentifrice for preventing and arresting root caries in community-dwelling older adults: A randomized controlled clinical trial.

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.

Assessment of oral health-related quality of life as a function of non-invasive treatment with high-fluoride toothpastes for root caries lesions in community-dwelling elderly.

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.

Analysis of the characteristics and components for the frailty syndrome in older adults from central Chile. The PIEI-ES study.

OBJECTIVE: To determine the prevalence and to characterize frailty in elderly subjects in four urban provincial capitals and two rural communes from Maule Region in Chile. DESIGN: Cross-sectional study. PARTICIPANTS: 1205 participants aged 65 and older. METHODS: The dataset was obtained from the PIEI-ES Study. Frailty syndrome was determined according to the criteria proposed by Fried. Data collection included questionnaires. RESULTS: The study sample included 1205 individuals, of which 68% were females. Mean age was 73 years. The overall prevalence of frailty was 24.6%. Increase prevalence of frailty was observed in people 80 years old and older, both in women and men. Using adjusted logistic regression, advanced frailty state was more likely to occur in subjects with cognitive impairment. CONCLUSION: This study provides evidence that frailty may be related with cognitive functioning, educational level and nutritional status in older adults.

Oral disorders among older Chileans: prevalence, incidence, and years lived with disability / Prevalência, incidência e anos vividos com incapacidade por doenças bucais no Chile

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)