Genetic Susceptibility to Periodontal Disease in Down Syndrome: A Case-Control Study.

Severe periodontitis is prevalent in Down syndrome (DS). This study aimed to identify genetic variations associated with periodontitis in individuals with DS. The study group was distributed into DS patients with periodontitis (n = 50) and DS patients with healthy periodontium (n = 36). All samples were genotyped with the "Axiom Spanish Biobank" array, which contains 757,836 markers. An association analysis at the individual marker level using logistic regression, as well as at the gene level applying the sequence kernel association test (SKAT) was performed. The most significant genes were included in a pathway analysis using the free DAVID software. C12orf74 (rs4315121, p = 9.85 × 10-5, OR = 8.84), LOC101930064 (rs4814890, p = 9.61 × 10-5, OR = 0.13), KBTBD12 (rs1549874, p = 8.27 × 10-5, OR = 0.08), PIWIL1 (rs11060842, p = 7.82 × 10-5, OR = 9.05) and C16orf82 (rs62030877, p = 8.92 × 10-5, OR = 0.14) showed a higher probability in the individual analysis. The analysis at the gene level highlighted PIWIL, MIR9-2, LHCGR, TPR and BCR. At the signaling pathway level, PI3K-Akt, long-term depression and FoxO achieved nominal significance (p = 1.3 × 10-2, p = 5.1 × 10-3, p = 1.2 × 10-2, respectively). In summary, various metabolic pathways are involved in the pathogenesis of periodontitis in DS, including PI3K-Akt, which regulates cell proliferation and inflammatory response.

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

"An International Meeting on Wolf-Hirschhorn Syndrome (WHS)" was held at The University Hospital La Paz in Madrid, Spain (October 13-14, 2017). One hundred and twenty-five people, including physicians, scientists and affected families, attended the meeting. Parent and patient advocates from the Spanish Association of WHS opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes. These proceedings will review the major points of discussion.

Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.

Cyclophilins are a type of peptidyl-prolyl cis-trans isomerases. CWC27, one of the known human cyclophilins, is recruited by the spliceosome for the pre-mRNA splicing process. Biallelic deleterious variants in CWC27 lead to a spectrum of overlapping phenotypes including retinal degeneration, skeletal anomalies, short stature, and neurological defects. The present work reports a woman showing these clinical features, in addition to hypergonadotropic hypogonadism, hypoplastic/agenesic teeth, and cataracts, not previously associated with such phenotypic spectrum. Whole exome sequencing on this patient identified a novel CWC27 homozygous variant predicted to originate a severely truncated protein and the consequent loss of functionality. The clinical and genetic characterization of such patient could provide further insight into the underlying causes of the spliceosomopathies.

Relationship between functional masticatory units and cognitive impairment in elderly persons.

BACKGROUND: Studies on the elderly have reported that the risk of cognitive impairment is affected by chewing difficulty. OBJECTIVE: To determine whether there is a relationship between the number of pairs of antagonist teeth that come into contact when the mouth is closed (functional masticatory units [FMUs]) and the level of cognitive impairment. METHODS: We conducted a cross-sectional observational study with 502 institutionalised White individuals older than 65 years, living in the northwest of Spain and Portugal. Through a direct visual inspection, we recorded the number of FMUs. Cognitive impairment was assessed by applying the Mini-Cognitive Examination (MCE), a test derived from the Mini-Mental State Examination. To describe the statistical relationship between the FMUs and the MCE values, a generalised linear model (GLM) was applied. We assessed the GLM predictive capacity for detecting cognitive impairment (MCE ≤23) in a new study group consisting of 156 elderly individuals. RESULTS: A large number of FMUs was significantly associated with a lower probability of cognitive impairment, regardless of the nature of the contact and its location (explained deviance, 30.1%). The model's discriminatory capacity for cognitive impairment based on the FMUs was "good" (0.820). The model's predictive capacity for cognitive impairment was "acceptable" (sensitivity, 0.786; positive predictive value, 0.900; accuracy, 0.729). CONCLUSION: In White, elderly institutionalised individuals, the absolute number of FMUs is significantly related to their MCE scores.

Denosumab-related osteonecrosis of the jaw following non-surgical periodontal therapy: A case report.

INTRODUCTION: Osteonecrosis of the jaw associated with bisphosphonates is currently called medication-related osteonecrosis of the jaw (MRONJ), given that in addition to bisphosphonates, jaw osteonecrosis has been related to the administration of other antiresorptive and antiangiogenic drugs, such as denosumab, sunitinib, bevacizumab and ipilimumab. CASE PRESENTATION: A 77-year-old patient with osteoporosis treated with subcutaneous injections of denosumab at an interval of 6 months is presented. The patient developed MRONJ after receiving a non-surgical periodontal therapy. Although the MRONJ was initially classified as a stage I lesion in this patient, cone beam computed tomography images confirmed the presence of a significant osteolytic lesion. Treatment consisted of the administration of chlorhexidine mouthwash and systemic doxycycline, exodontia of the involved teeth, sequestrectomy and complete surgical debridement of the necrotic bone. CONCLUSION: To our knowledge, this is the first case reported in the literature of MRONJ following non-surgical periodontal therapy in a patient with osteoporosis treated with denosumab. The risk of MRONJ development after a periodontal procedure and how to prevent this complication are still unknown.

Prevention of medication-related osteonecrosis of the jaws secondary to tooth extractions. A systematic review.

BACKGROUND: A study was made to identify the most effective protocol for reducing the risk of osteonecrosis of the jaws (ONJ) following tooth extraction in patients subjected to treatment with antiresorptive or antiangiogenic drugs. MATERIAL AND METHODS: A MEDLINE and SCOPUS search (January 2003 - March 2015) was made with the purpose of conducting a systematic literature review based on the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines. All articles contributing information on tooth extractions in patients treated with oral or intravenous antiresorptive or antiangiogenic drugs were included. RESULTS: Only 13 of the 380 selected articles were finally included in the review: 11 and 5 of them offered data on patients treated with intravenous and oral bisphosphonates, respectively. No randomized controlled trials were found - all publications corresponding to case series or cohort studies. The prevalence of ONJ in the patients treated with intravenous and oral bisphosphonates was 6,9% (range 0-34.7%) and 0.47% (range 0-2.5%), respectively. The main preventive measures comprised local and systemic infection control. CONCLUSIONS: No conclusive scientific evidence is available to date on the efficacy of ONJ prevention protocols in patients treated with antiresorptive or antiangiogenic drugs subjected to tooth extraction.

The 100 most cited articles in dentistry.

OBJECTIVES: To identify the 100 most cited articles published in dental journals. MATERIALS AND METHODS: A search was performed on the Institute for Scientific Information (ISI) Web of Science for the most cited articles in all the journals included in the Journal Citation Report (2010 edition) in the category of "Dentistry, Oral Surgery, and Medicine". Each one of the 77 journals selected was analyzed using the Cited Reference Search tool of the ISI Web of Science database to identify the most cited articles up to June 2012. The following information was gathered from each article: names and number of authors, journal, year of publication, type of study, methodological design, and area of research. RESULTS: The number of citations of the 100 selected articles varied from 326 to 2050. All articles were published in 21 of the 77 journals in the category. The journals with the largest number of the cited articles were the Journal of Clinical Periodontology (20 articles), the Journal of Periodontology (18 articles), and the Journal of Dental Research (16 articles). There was a predominance of clinical research (66 %) over basic research (34 %). The most frequently named author was Socransky SS, with 9 of the top 100 articles, followed by Lindhe J with 7. The decades with most articles published of the 100 selected were 1980-1989 (26 articles) and 1990-1999 (25 articles). The most common type of article was the case series (22 %), followed by the narrative review/expert opinion (19 %). The most common area of study was periodontology (43 % of articles). CONCLUSIONS: To our knowledge, this is the first report of the top-cited articles in Dentistry. There is a predominance of clinical studies, particularly case series and narrative reviews/expert opinions, despite their low-evidence level. The focus of the articles has mainly been on periodontology and implantology, and the majority has been published in the highest impact factor dental journals. CLINICAL SIGNIFICANCE: The number of citations that an article receives does not necessarily reflect the quality of the research, but the present study gives some clues to the topics and authors contributing to major advances in Dentistry.

Dimensions of central incisors, canines, and first molars in subjects with Down syndrome measured on cone-beam computed tomographs.

INTRODUCTION: The literature on tooth dimensions in subjects with Down syndrome (DS) is scarce. To our knowledge, no studies have yet been published in which the morphometry of the teeth in DS subjects has been determined using computed tomography. METHODS: The study group consisted of 40 subjects with DS, aged 10 to 40 years. An age- and sex-matched control group was selected. Cone-beam computed tomography images were retrieved from the archive of the Santiago de Compostela University in Spain. The maxillary central incisors, canines, and first molars were evaluated. The following variables were analyzed: overall tooth length, crown height, root length, mesiodistal diameter, vestibular-palatine diameter, crown-to-root ratio, and cervical circumference. RESULTS: The teeth of subjects with DS were smaller than those of the controls, although the crown-to-root ratio was maintained. No clear sexual dimorphism was detected, but the root lengths of the incisors were greater in male subjects. Crown height, mesiodistal diameter, and crown-to-root ratio showed progressive reductions with age. There appeared to be a degree of "fluctuating dental asymmetry" with respect to vestibular-palatine diameter and cervical circumference. CONCLUSIONS: Our findings confirm microdontia of the permanent teeth and progressive reductions in tooth sizes with age in persons with DS. These variations might be relevant to orthodontic treatment planning.

Orthodontic treatment for disabled children: a survey of parents' attitudes and overall satisfaction.

BACKGROUND: Many patients with disability require orthodontic treatment (OT) to achieve adequate oral function and aesthetic appearance. The cooperation of disabled patients and of their parents is central to the success of OT, as treatment can involve ethical dilemmas. The aim of this study was to analyze the motivation, expectations and overall satisfaction with OT among parents of patients with disabilities. METHODS: The parents of 60 disabled Spanish children with physical, mental and/or sensory impairment undergoing OT were surveyed on attitudes to OT and level of satisfaction with the outcomes. The survey consisted of 23 questions in 4 sections: attitude and adaptation, benefits, adverse effects, and level of satisfaction after completion of OT. A control group formed of the parents of 60 healthy children undergoing OT at the same institution were also surveyed. RESULTS: Parents of disabled children undergoing OT showed a high level of motivation and they are willing to collaborate in oral hygiene procedures. Adaptation to the removable appliances was poorer in disabled children but adaptation to fixed appliances was excellent. OT can provide a marked improvement in quality of life, social relationships and oral functionality in disabled children. CONCLUSIONS: Among parents of disabled children undergoing OT, the perceived level of overall satisfaction was very high and expectations were often exceeded.

In vivo antiplaque effect of three edible toothpastes.

OBJECTIVES: The objective of this study was to analyse the antibacterial and antiplaque activity of three edible toothpastes with the widest worldwide distribution: KidScents™, which contains essential oils; Browning B& B™, with medicinal plants; and Wysong Probiodent™, which contains probiotics. STUDY DESIGN: The study group was formed of twenty healthy volunteers (dental students) with a good oral health status. Using a balanced randomisation system, all volunteers performed toothbrushing with four products (the three edible toothpastes and water) at intervals of one week. Bacterial vitality in the saliva was analysed by epifluorescence microscopy and plaque regrowth was evaluated using the Turesky-Quigley-Hein plaque index. RESULTS: Bacterial vitality in the saliva was significantly higher after toothbrushing with water (positive control) than with the three toothpastes (P=0.002, P=0.003 and P<0.001, respectively). The plaque index was significantly higher after using these three toothpastes than after toothbrushing with water (P=0.047, P=0.032 and P<0.001, respectively). CONCLUSIONS: The three edible toothpastes analysed have some antimicrobial activity but favour plaque regrowth.

Oral self-injury: an update.

BACKGROUND: Self-inflicted oral injuries of organic origin are particularly common in certain diseases, syndromes, and systemic disorders. In this article, we discuss the characteristics of these oral lesions and their treatment. LITERATURE SEARCH: The authors have reviewed the most relevant literature relating to oral self-injury through a search in textbooks and published articles included in the Medline database for the years 1970-2010, and selected published cases from the last two decades. RESULTS: The majority of the literature on oral self-injury is in the form of case reports. Self-injury is particularly prevalent in patients with Lesch-Nyhan syndrome, a heterogeneous group of neurological disorders, congenital insensitivity to pain with anhidrosis, and mental retardation. It is most common in males in the early years of life, and the sites most frequently involved are the lower lip and the tongue. Therapeutic approaches in these patients have included psychological and pharmacological treatment, intraoral devices, and surgical procedures. CLINICAL IMPLICATIONS: Intraoral devices are the best therapeutic option for self-injury of organic origin, although this approach is not free of complications. The current lack of standardized treatment protocols for oral self-injury means that therapy must be individualized.

Evaluation of an oral health scale of infectious potential using a telematic survey of visual diagnosis.

OBJECTIVE: To compare the results of a subjective estimation of oral health through review of a set of intraoral photographs with those of an objective oral health scale of infectious potential. METHOD: The pool of patients was made up of 100 adults. Using an infectious-potential scale based on dental and periodontal variables, we assigned 1 of the 4 grades of the scale (range, 0 to 3; 0 corresponds to an excellent oral health status and 3 to the poorest oral health status) to each subject. A total of 20 representative subjects were selected from the pool of patients, 5 subjects for each one of the grades of the scale, and a standardized photographic record was made. One thousand dentists practicing in Spain were sent the survey by e-mail and 174 completed forms were received. We then calculated the concordance of the oral health status indicated by the respondents after visualising the photographs on comparison with the results of the oral health scale of infectious potential; concordance was termed correct grade allocation (CGA). RESULTS: The majority of respondents (69.1%) achieved a CGA in 8 to 12 cases and none achieved more than 15 CGAs. The poorest CGA rates were found with grades 1 and 2, with a mean of 1.74 ± 1.09 and 1.87 ± 1.18, respectively, out of a maximum of 5. The concordance in terms of CGA was high for grade 0 (70.5%), very low for grade 1 (10.8%), low for grade 2 (37.3%), and moderate for grade 3 (42.6%). CONCLUSION: In comparison with visual examination of the oral cavity, the use of objective scale that establishes a reliable diagnosis of oral health in terms of infectious potential was found to be advantageous.

Development of a new tool for predicting the behavior of individuals with intellectual disability in the dental office: A pilot study.

BACKGROUND: The dental treatment of individuals with intellectual disability can represent a considerable professional challenge. OBJECTIVE: To develop a model for predicting the behavior of patients with intellectual disability in the dental office. METHODS: The study group comprised 250 patients with Down syndrome (DS), autism spectrum disorder (ASD), cerebral palsy (CP), idiopathic cognitive impairment or rare disorders. We collected their demographic, medical, social and behavioral information and identified potential predictors (chi-squared test). We developed stratified models (Akaike information criterion) to anticipate the patients'behavior during intraoral examinations and to discern whether the dental treatment should be performed under general anesthesia. These models were validated in a new study group consisting of 80 patients. Goodness of fit was quantified with sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and area under the receiver operating characteristic curve (AUC). We developed a mathematical algorithm for executing the models and developed software for its practical implementation (PREdictors of BEhavior in Dentistry, "PREBED"). RESULTS: For patients with DS, ASD and CP, the model predicting the need for physical restraint during examination achieved a PPV of 0.90, 0.85 and 1.00, respectively, and an NPV of 0.66, 0.76 and 1.00, respectively. The model predicting the need for performing treatment under general anesthesia achieved a PPV of 0.63, 1.00 and 1.00, respectively, and an NPV of 1.00, 1.00 and 0.73, respectively. However, when validating the stratified models, the percentage of poorly classified individuals (false negatives + false positives) ranged from 24% to 46.6%. CONCLUSIONS: The results of the PREBED tool open the door to establishing new models implementing other potentially predictive variables.

Malignant Transformation Rate of Oral Submucous Fibrosis: A Systematic Review and Meta-Analysis.

Oral submucous fibrosis (OSF) is a chronic progressive condition affecting the oral cavity, oropharynx and upper third of the oesophagus. It is a potentially malignant disorder. The authors collated and analysed the existing literature to establish the overall malignant transformation rate (MTR). A retrospective analysis of medical and dental scientific literature using online indexed databases was conducted for the period 1956 to 2021. The quality of the enrolled studies was assessed by the Newcastle-Ottawa Scale (NOS). A meta-analysis using a random effects model of a single proportion was performed along with statistical tests for heterogeneity. The overall proportion of malignancy across all studies was 0.06 (95% CI, 0.02-0.10), indicating an overall 6% risk of malignant transformation across all studies and cohorts. Sub-group analyses revealed strong differences in proportion of malignancy according to ethnicity/cohort; Chinese = 0.02 (95% CI 0.01-0.02), Taiwanese = 0.06 (95% CI, 0.03-0.10), Indian = 0.08 (95% CI, 0.03-0.14) and Pakistani = 0.27 (95% CI 0.25-0.29). Overall, the MTR was 6%; however, wide heterogeneity of the included studies was noted. Geographic variations in MTR were noted but were not statistically significant. Further studies are required to analyse the difference between cohort groups.

Oral health needs of athletes with intellectual disability in Southern Europe: Greece, Italy and Spain.

AIMS: The population with intellectual disabilities (ID) has been reported to be a vulnerable population in terms of oral health. The aims of this study were to evaluate the oral condition and treatment needs of Special Olympics (SO) athletes from Greece, Italy and Spain. METHODS AND RESULTS: A cross-sectional study was performed with data collected in annual SO events held in Greece, Italy and Spain, between 2010 and 2012. The recorded parameters were the presence/absence of edentulism, untreated decay, filled or missing teeth, sealants, tooth injury and signs of gingival disease. Among the main findings, the prevalence of untreated decay was 57.0% in Greece, 48.8% in Italy and 41.7% of the Spanish athletes. The prevalence of signs of gingival disease was 61.1% in Greece, 60.6% in Italy and 66.1% in Spain. While the majority of the athletes were in need of dental treatment. CONCLUSIONS: Oral disease is an unresolved problem among athletes with ID in these Mediterranean countries. Therefore efforts should be directed to meet their treatment needs and to prevent oral disease.

In Vitro Anti-Biofilm and Antibacterial Properties of Streptococcus downii sp. nov.

The aim of this study was to evaluate the potential anti-biofilm and antibacterial activities of Streptococcus downii sp. nov. To test anti-biofilm properties, Streptococcus mutans, Actinomyces naeslundii, Veillonella parvula, Fusobacterium nucleatum, Porphyromonas gingivalis, and Aggregatibacter actinomycetemcomitans were grown in a biofilm model in the presence or not of S. downii sp. nov. for up to 120 h. For the potential antibacterial activity, 24 h-biofilms were exposed to S. downii sp. nov for 24 and 48 h. Biofilms structures and bacterial viability were studied by microscopy, and the effect in bacterial load by quantitative polymerase chain reaction. A generalized linear model was constructed, and results were considered as statistically significant at p < 0.05. The presence of S. downii sp. nov. during biofilm development did not affect the structure of the community, but an anti-biofilm effect against S. mutans was observed (p < 0.001, after 96 and 120 h). For antibacterial activity, after 24 h of exposure to S. downii sp. nov., counts of S. mutans (p = 0.019) and A. actinomycetemcomitans (p = 0.020) were significantly reduced in well-structured biofilms. Although moderate, anti-biofilm and antibacterial activities of S. downii sp. nov. against oral bacteria, including some periodontal pathogens, were demonstrated in an in vitro biofilm model.

Management of drooling in disabled patients with scopolamine patches.

AIM: To evaluate the efficacy of scopolamine administered transdermally for the treatment of drooling in severely disabled patients. METHODS: A prospective, randomized, double-blind, crossover, placebo-controlled clinical trial was designed. The study group consisted of 30 handicapped patients with persistent drooling. The exclusion criteria were the specific contra-indications of scopolamine. Severity of drooling was quantified using a modified Thomas-Stonell and Greenberg visual scale simplified into three grades: 1 = dry; 2 = mild/moderate; 3 = severe/fulsome. The frequency of drooling was estimated using the number of bibs used each day. The baseline observational phase was followed by the application of a 1.5 mg scopolamine (Scopoderm TTS; Novartis Consumer Healthcare, UK) or placebo patch every 72 h for a fortnight. This was followed by a 1 week washout period and then crossover of assignments for 2 weeks. RESULTS: At baseline, 77% of patients showed grade 3 of drooling. The placebo administration showed no significant reduction in drooling. We found a significant drooling reduction (P < 0.005) in the scopolamine group in the 1 and 2 week controls (69% and 80% respectively

In vivo substantivity of 0.12% and 0.2% chlorhexidine mouthrinses on salivary bacteria.

The in vivo antimicrobial activity of 0.12% and 0.2% chlorhexidine (CHX) on the salivary flora up to 7 h after its application, using epifluorescence microscopy with the SYTO 9/propidium iodide dual staining, was evaluated. Fifteen volunteers performed a single mouthrinse with sterile water (SM-water), a single mouthrinse with 0.12% CHX (0.12% SM-CHX) and a single and double mouthrinse with 0.2% CHX (0.2% SM-CHX and 0.2% DM-CHX). Samples of saliva were taken at 30 s, and 1, 3, 5, and 7 h after each application. In comparison with SM-water, 0.2% CHX (SM and DM) showed a significant antibacterial effect up to 7 h after the mouthrinse, whereas this effect only persisted up to 5 h after the 0.12% SM-CHX mouthrinse. On comparing the two concentrations of CHX, significantly higher percentages of bacterial vitality were observed in all the saliva samples after the use of 0.12% CHX than after 0.2% CHX. On comparison of the 0.2% SM-CHX and 0.2% DM-CHX, significantly higher percentages of live bacteria were observed in the saliva samples taken at 1, 3, 5, and 7 h after the single mouthrinse compared with the double mouthrinse. The 0.2% CHX mouthrinse had the greatest antimicrobial activity on the salivary flora up to 7 h after its application, with a progressive recovery in bacterial vitality. The differences observed with respect to the 0.12% CHX mouthrinse demonstrate the influence of the concentration on its immediate antimicrobial activity and substantivity.

Maxillary expansion therapy in children with Down syndrome.

PURPOSE: The purpose of this study was to evaluate orthodontic treatment with maxillary expanders (MEs) in a group of Down syndrome (DS) children while also analyzing the rate of activation of the appliance, the complications during the expansion phase, and the expansion outcomes. METHODS: Thirty-two DS children underwent ME treatment. Sixty-four controls matched for age, sex, and type of ME were selected. The variables analyzed were previous dental treatment, orthodontic diagnosis, and ME treatment. RESULTS: Slow activation of the ME was used in 28% of the DS patients vs 9% of controls (P > .03). Complications during expansion occurred in 10 DS patients (31%) but in none of the controls (P < .001). The most common complication was the appearance of oral ulcers. At the end of the expansion, the results were considered to be clinically successful in 21 DS patients (66%) and in 50 controls (78%). CONCLUSIONS: Maxillary expansion can be undertaken in DS children and is successful in a high proportion of cases if correct case selection has been performed. These patients, however, may require a slow activation of the appliance during the expansion phase and are more susceptible to the appearance of oral ulceration, which can affect the course of treatment.