Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.

OBJECTIVES: Cleft lip with/without cleft palate and cleft palate only is congenital birth defects where the upper lip and/or palate fail to fuse properly during embryonic facial development. Affecting ~1.2/1000 live births worldwide, these orofacial clefts impose significant social and financial burdens on affected individuals and their families. Orofacial clefts have a complex etiology resulting from genetic variants combined with environmental covariates. Recent genome-wide association studies and whole-exome sequencing for orofacial clefts identified significant genetic associations and variants in several genes. Of these, we investigated the role of common/rare variants in SHH, RORA, MRPL53, ACVR1, and GDF11. MATERIALS AND METHODS: We sequenced these five genes in 1255 multi-ethnic cleft lip with/without palate and cleft palate only samples in order to find variants that may provide potential explanations for the missing heritability of orofacial clefts. Rare and novel variants were further analyzed using in silico predictive tools. RESULTS: Ninteen total variants of interest were found, with variant types including stop-gain, missense, synonymous, intronic, and splice-site variants. Of these, 3 novel missense variants were found, one in SHH, one in RORA, and one in GDF11. CONCLUSION: This study provides evidence that variants in SHH, RORA, MRPL53, ACVR1, and GDF11 may contribute to risk of orofacial clefts in various populations.

Cariology consensus for undergraduates at dental schools in the Caribbean region.

AIM: To obtain a consensus on the domains of cariology for undergraduates in dental schools in the Caribbean. MATERIALS AND METHODS: Dental school deans from the Dominican Republic (DR) and Puerto Rico (PR) were invited to participate. Afterwards, 24 cariology faculty members from the dental schools in the DR received a 40-h workshop on the current understanding of dental caries. Then, representatives from participating dental schools in the DR and PR were divided into six groups and tasked with exploring the cariology domains described in the European and Colombian consensus. For each domain, the competencies in what the dental student, upon graduation, would have to (1) be proficient in, (2) have knowledge of, (3) and be familiar with were described. Two cariology consensus meetings to work on the domains and suggest changes for the Caribbean region were done, and representatives from the DR and PR agreed on a cariology consensus. For the second stage, Caribbean English-speaking countries were invited to participate in the consensus. Meetings were held with representatives from dental schools in Trinidad and Tobago (TT) and Jamaica (J) to include their suggestions on each consensus domain. RESULTS: A total of 15 dental schools (DR = 12; PR = 1; TT = 1; and J = 1) participated; they agreed on a new consensus considering the realities of the Caribbean participating countries. CONCLUSION: A cariology consensus for undergraduates was achieved for 15 dental schools in the Caribbean region. This accomplishment will promote a shift for the Caribbean dental schools' graduates towards a current understanding of dental caries.

Histiocitosis de células de Langerhans: seguimiento de 5 años del caso y revisión sistemática de literatura / Histiocitose de células de Langerhans: acompanhamento de 5 anos e revisão sistemática da literatura / Langerhans cell histiocytosis: 5-year follow-up and systematic literature review

La Histiocitosis de células de Langerhans (HCL), es una enfermedad rara, caracterizada por la proliferación clonal agresiva de células de Langerhans dendríticas de la médula ósea. La enfermedad crea lesiones osteolíticas en donde las manifestaciones orales usualmente están presentes. El objetivo de este reporte de caso es, presentar el seguimiento de cinco años de un caso diagnosticado en el 2014 y una revisión sistemática de literatura de las manifestaciones orales de HCL. Para la revisión sistemática, el argumento de búsqueda con palabras claves como HCL, histiocitosis X y manifestaciones orales, fueron conducidas en cinco bases de datos como PUBMED, LILACS, EBSCO, OVID y SCOPUS. Las manifestaciones orales más comunes son inflamación, enrojecimiento y pérdida de hueso en las áreas afectadas. Es importante mantener un seguimiento periódico en el consultorio dental de los casos de HCL en la población pediátrica. La HCL usualmente presenta manifestaciones orales que pueden ser un signo de diagnóstico temprano de esta condición, especialmente en la población pediátrica.

A histiocitose de células de Langerhans (HCL) é uma doença rara caracterizada pela proliferação clonal agressiva de células dendríticas de Langerhans da medula óssea. A doença cria lesões osteolíticas onde as manifestações orais geralmente estão presentes. O objetivo deste relato de caso é apresentar o seguimento de cinco anos de um caso diagnosticado em 2014 e uma revisão sistemática da literatura sobre as manifestações orais da HCL. Para a revisão sistemática, a busca de argumento com palavras-chave como LCH, histiocytosis X e oral manifestations, foi realizada em cinco bases de dados como PUBMED, LILACS, EBSCO, OVID e SCOPUS. As manifestações orais mais comuns são inflamação, vermelhidão e perda óssea nas áreas afetadas. É importante monitorar regularmente os casos de HCL na população pediátrica no consultório odontológico. A HCL geralmente apresenta manifestações orais que podem ser um sinal diagnóstico precoce dessa condição, principalmente na população pediátrica

Langerhans cell histiocytosis (LCH) is a rare disease characterized by aggressive clonal proliferation of dendritic Langerhans cells from the bone marrow. The disease creates osteolytic lesions where oral manifestations are usually present. The objective of this case report is to present the five-year follow-up of a case diagnosed in 2014 and a systematic review of the literature on the oral manifestations of LCH. For the systematic review, the search argument with keywords such as LCH, histiocytosis X and oral manifestations, were conducted in five databases such as PUBMED, LILACS, EBSCO, OVID and SCOPUS. The most common oral manifestations are inflammation, redness, and bone loss in the affected areas. It is important to regularly monitor LCH cases in the pediatric population in the dental office. LCH usually presents oral manifestations that can be an early diagnostic sign of this condition, especially in the pediatric population

Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.

BACKGROUND: The development of the face occurs during the early days of intrauterine life by the formation of facial processes from the first Pharyngeal arch. Derangement in these well-organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS) is one of the most common causes of syndromic cleft lip and/or palate accounting for 2% of all cases. Mutations in the IRF6 gene account for 70% of cases with the majority of these mutations located in the DNA-binding (exon 3, 4) or protein-binding domains (exon 7-9). The current study was designed to update the list of IRF6 variants reported for VWS by compiling all the published mutations from 2013 to date as well as including the previously unreported VWS cases from Africa and Puerto Rico. METHODS: We used PubMed with the search terms; "Van der Woude syndrome," "Popliteal pterygium syndrome," "IRF6," and "Orofacial cleft" to identify eligible studies. We compiled the CADD score for all the mutations to determine the percentage of deleterious variants. RESULTS: Twenty-one new mutations were identified from nine papers. The majority of these mutations were in exon 4. Mutations in exon 3 and 4 had CADD scores between 20 and 30 and mutations in exon 7-9 had CADD scores between 30 and 40. The presence of higher CADD scores in the protein-binding domain (exon 7-9) further confirms the crucial role played by this domain in the function of IRF6. In the new cases, we identified five IRF6 mutations, three novel missense mutations (p.Phe36Tyr, p.Lys109Thr, and p.Gln438Leu), and two previously reported nonsense mutations (p.Ser424*and p.Arg250*). CONCLUSION: Mutations in the protein and DNA-binding domains of IRF6 ranked among the top 0.1% and 1% most deleterious genetic mutations, respectively. Overall, these findings expand the range of VWS mutations and are important for diagnostic and counseling purposes.

Treatment for oral lesions in pediatric patients with Stevens-Johnson's syndrome: A case report and literature review.

Stevens-Johnson syndrome (SJS) is a disorder forming one of the several severe cutaneous adverse reactions, a group that includes, as well, erythema multiforme, toxic epidermal necrolysis (TEN), and SJS/TEN overlap. These adverse reactions are characterized by their severe involvement of the skin and the oral, gastrointestinal, genital, and conjunctival mucosa. The purposes of the study described herein were to perform a literature review of studies describing the clinical presentations and management of SJS patients with oral manifestations and to present a case report of a patient treated with dapsone gel. The research question for the literature review was the following: For patients with SJS, does adjunctive topical antibiotic treatment provide a better resolution for oral lesions than supportive care does? An online search of studies published from 2000 to 2019 was performed using the following databases: PubMed, BBO, LILACS, the Cochrane Library, and Ovid MEDLINE. Eight case reports were identified that met the inclusion criteria. Most of the articles included information about palliative treatments, such as supragingival cleaning and debridement, and the use of palliative oral rinses and gels, such as 'magic' mouthwash, chlorhexidine 0.12%, and lidocaine 2% gel. The case reported added an innovative treatment consisting of dapsone gel 5%.

Comparison of Levels of Salivary Cytokines in Diabetic and Nondiabetic Puerto Rican Children: A Case-control Pilot Study.

PURPOSE: The oral health status of children with type 1 diabetes and its relationship to salivary cytokines have been researched in only one known study. The purpose of the present study was to evaluate the association between levels of salivary cytokines and gingival disease in diabetic and nondiabetic Puerto Rican children. METHODS: A matched case-control study with a convenience sample of 25 children with type 1 diabetes (cases) and 25 nondiabetic children (controls) were evaluated by a calibrated dentist for oral health indices. A five-ml stimulated saliva sample was taken from each subject and analyzed to determine cytokine levels (IL-6, IL-17, IP-10, TNF-alpha, MMP-2, MMP-9, CRP). Descriptive statistics, chi-square tests, and t tests were used. RESULTS: Diabetic children are observed to have more plaque than control children (P=.007), more calculus (P=.06), and more bleeding on probing (P=.001). Only the level of the mediator IL-17 (P=.002) was higher in diabetic children than in nondiabetic children, but no significant differences were observed in the levels of other cytokines between the two groups. However, for each salivary mediator evaluated, diabetic children had higher levels of the respective mediator. CONCLUSION: Salivary cytokines levels were higher in diabetic type 1 children than in nondiabetic children.

Latin-American Special Olympics athletes: evaluation of oral health status, 2010.

OBJECTIVES: The purpose of this study was to evaluate the oral health status and dental needs of the athletes with intellectual disabilities from Latin-American and Caribbean countries who were participating in the II Latin-American Special Olympics games held in Puerto Rico, February 2010. METHODS: There were 930 athletes who participated in the games, of whom 445 received a dental examination, including 367 from Latin-American and 78 from Caribbean countries. Forty-four trained and standardized dental professionals performed dental screenings of athletes with intellectual disabilities, following Special Olympic Special Smiles and CDC protocols. These criteria were used to record untreated caries, missing and filled teeth, and gingival status. Socio-demographics, existence, and severity of pain and oral hygiene habits were assessed by questionnaire. Statistical analysis was performed using EPI-INFO and SPSS Statistical Program to produce descriptive statistics and chi-square test. RESULTS: Untreated dental caries was recorded for more than half of the examined athletes. Missing teeth were noted in more than one-third of the athletes. More than half of the participants had signs of gingival disease and half needed preventive mouth guards. Statistics for each Latin-American country suggests a dissimilar trend of dental decay and treatment needs among nations. CONCLUSIONS: While the Special Olympic athletes may not be representative of the entire population of individuals with intellectual disabilities in their specific country, the general consistency of the oral health status of these athletes from the 31 countries supports the certainty of the need for increased dental services for individuals with intellectual disability in the respective countries.

Comparing the oral health status of diabetic and non-diabetic children from Puerto Rico: a case-control pilot study.

OBJECTIVE: Children with type 1 diabetes have infrequently been the subjects of studies examining oral health status (caries and gingival diseases); in addition, no study of this type has ever been on Puerto Rican children. The purpose of this study was to evaluate the oral health status of Puerto Rican children (ranging in age from 6 to 12 years) either with or without type 1 diabetes and compare the two groups with regard to that status. METHODS: This was a matched case-control study. A convenience sample of 25 children with type 1 diabetes (cases) and 25 non-diabetic children (controls), all ranging in age from 6 to 12 years and matched by age and gender, was evaluated by a calibrated dentist for caries, bleeding on probing, and plaque and calculus indexes. A sample of saliva was taken from each subject and analyzed to determine Streptococcus mutans and Lactobacillus counts. Descriptive statistics, chi-square test, and t-test were used to describe and assess the data. RESULTS: We used the caries index to evaluate the teeth of the children participating in our study; we found significant differences in the number of lesions in the permanent teeth of diabetic children compared to the number found in the permanent teeth of non-diabetic children (1.43 and 0.56, respectively; p = 0.05). The mean number of sites of bleeding on probing for diabetic children was 23.9; for non-diabetic children it was 4.2. Diabetic children had more plaque than did the control children (plaque index = 2.5 vs. 0.8; p = 0.007) and more bleeding on probing (p = 0.001). High levels of glycosylated hemoglobin in diabetic children were statistically significantly associated with a greater number of sites with bleeding on probing. CONCLUSION: Diabetic children are at higher risk for caries and gum disease than are non-diabetic children.

Dental and periodontal health and treatment needs in a mother/child rural Puerto Rican population.

BACKGROUND: Oral research directed toward the maternal and child dyads is important because mothers are a source of dental caries pathogens and are the health behavior managers and trainers of children. The objectives of this study were: 1) to evaluate the oral health status of the mothers in a sample of 100 children aged 12 to 60 months from a rural community in Puerto Rico, and 2) to compare the children with their mothers' oral health status. METHODS: A sample of 71 women and 100 of their children, (Mean Age = 28.8 years +/- 9.0, and 36.41 mos +/- 18.2, respectively) were evaluated for DMFT/S and periodontal health or deft/s. A NIDCR calibrated dentist performed all dental evaluations of children and mothers utilizing NIDCR criteria. Descriptive statistics were produced. RESULTS: Mothers' bleeding point prevalence in at least one site was 63%; prevalence of at least one site with pocket depth of 4 to 6 mm was 37 %. Calculus prevalence was, no calculus 25%, supragingival calculus 56.7%, subgingival calculus 2.2%, supra and sub gingival calculus 16.3%. Mean Dental Indices for mothers were DMFS (16.51 -/+ 0.02), DMFT (12.20 +/- 6.76), Caries (2.93 +/- 2.86), Filling (7.07 +/- 8.76), Missing (2.93 +/- 4.53). Children's Mean Dental Indices were defs (4.32 +/- 9.7), deft (2.30 +/- 4.0), decalcifications lesions (1.36 +/-1.9), caries (1.96 +/- 3.2) and surfaces caries (3.81 +/- 8.68), fillings (0.22 +/- 0.83) and extracted teeth (0.043 +/- 0.45). CONCLUSIONS: Significant levels of treated and untreated caries and gingival disease were observed in this sample. The importance for primary and secondary prevention, as well as treatment for periodontal and dental disease, in rural Puerto Rican communities is evident from this investigation.

A review of the oral health of individuals with disabilities in Puerto Rico and among U.S. Hispanics.

More than 51 million U.S. civilian noninstitutionalized residents have some form of long-lasting disability, including almost 1 million residents of Puerto Rico. The goal of this report is to review available data in an effort to stimulate recognition of the oral health needs of Puerto Rican residents with disabilities. The authors conducted a review using a series of U.S. Census Bureau reports to develop comparative relationships between Puerto Rican residents, the total U.S. population and the total U.S. Hispanic population. The review compared the proportion of these groups with disabilities, the proportion of the population who live below the poverty threshold, and oral health status. The review of available government and private agency data for the general population indicates that the percentage of Puerto Rican residents with disabilities is greater than the percentage of the total U.S. population and the total U.S. Hispanic population. In addition, compared to the total U.S. population, a greater percentage of total U.S. Hispanic children is living in poverty, has unmet dental needs, is uninsured for health services, and has not visited dentists for extended periods. Particularly limited information is available regarding the oral health needs and services for Puerto Rican residents with disabilities. It is essential for future government and private agency surveys and reports to emphasize the economic status of the Puerto Rican population, recognize the distribution of particular disabilities among the various racial/ethnic populations, and increase general attention to the oral health of the residents of Puerto Rico with specific concerns regarding individuals with disabilities.

Puerto Rican athletes with special health care needs: an evaluation of oral health status.

PURPOSE: Limited data are available regarding the oral health of individuals with disabilities who reside in Puerto Rico. The Special Olympics Special Smiles oral health screening, education, and referral program provides an opportunity to explore the dental status and needs of Special Olympics athletes with intellectual and developmental disabilities. The purpose of this paper was to evaluate the oral health status of Special Olympics athletes participating in an event in Villalba, Puerto Rico in 2004. METHODS: A total of 161 self-selected athletes with intellectual disabilities were screened by 4 trained and calibrated dentists utilizing the criteria standards of the National Institute of Dental and Craniofacial Research, Special Olympics Special Smiles, and the Centers for Disease Control and Prevention developed for decayed, filled, and missing teeth. Oral hygiene, reports of oral pain, and sociodemographic information were recorded. The statistical test used was the chi-square test to establish associations and logistic regressions. Data were analyzed using EPI-INFO and SPSS programs. RESULTS: Almost 45% of examined athletes (mean age=19 years) had untreated dental decay; 33% had missing teeth, 60% had gingival signs of periodontal disease, and 16% reported dental pain. CONCLUSION: Results of clinical examinations indicate a population with intellectual disabilities that is in significant need of preventive and restorative oral health needs.

Associations between a history of breast feeding, malocclusion and parafunctional habits in Puerto Rican children.

UNLABELLED: Studies relating breast-feeding, malocclusion and parafunctional habits in young children are scarce. PURPOSE: The purpose of this study is to evaluate the associations of a history of breast-feeding, incidence of malocclusion and parafunctional habits. METHODS: The dental records of a sample of 540 children aged 6 to 72 months screened for oral conditions and behavioral risk factors were evaluated for variables such as a history of breastfeeding, malocclusion and parafunctional habits. Descriptive statistics using the EPI-INFO Program and Chi-square test at the 0.05 level of probability were performed. RESULTS: The results showed that the mean age of the children was 28 months +/- 14. The mothers' mean age was 26.4 years +/- 6. The prevalence of breast-feeding was 34% with a mean breast-feeding time period of 3 m +/- 3.7. About 95% of the children had a history of bottle-feeding and 90% showed some evidence of malocclusion at the time of dental examination. The main malocclusion problems were space deficiency (closed contacts among incisors) (31%), open bites (6%) and crossbites (5%). A habit of thumb sucking was reported in 32% of the cases and pacifier use in 21%. there were significant differences for the following variables: mother's age and breast-feeding time period; number of children in family and breast-feeding time period; breast-feeding history and breast-feeding time with bottle use, malocclusion and thumb sucking habit; and gender and thumb-sucking habit. CONCLUSION: It is concluded that breast-feeding practices and time period are behavioral factors that contribute in the prevention of malocclusion in addition to decreasing the practice of parafunctional habits in preschool children.

Rural Puerto Rican women's views on children's oral health: a qualitative community-based study.

PURPOSE: The purpose of this study was to examine women's views on beliefs, preferences, and behaviors relevant to children's oral health. METHODS: Women of childbearing age and mothers of women of childbearing age were recruited from 2 rural Puerto Rican communities to participate in 24 focus groups. One hundred fifty women participated. Participants were asked about their awareness and knowledge of childhood decay and their child-feeding and oral care attitudes and practices. Analysis consisted of a comprehensive content review of participant's responses. RESULTS: Participants used a variety of infant and toddler feeding practices, including breastfeeding and prolonged bottle use. Children progressed through feeding stages based on mother's experience, older relatives' advice, and child readiness. Grandmothers were considered trusted and reliable sources of information. Many believed that dental disease did not affect infants and were unaware of el síndrome del biberón (baby bottle tooth decay, SIB). Participants believed that decay was caused by too much sugar and prolonged bottle use and only affected children. Dental visits were rare in very young children, unless conspicuous decay or pain was present. Mothers' dental experiences influenced seeking children's preventive and treatment visits. CONCLUSIONS: This study highlights caregivers' perceptions, which are inconsistent with maximizing children's oral health. This information can be used to develop culturally appropriate, community based oral health programs.