Pycnodysostosis: Characteristics of teeth, mouth and jaws.

OBJECTIVES: To describe the clinical and radiographic oro-dental characteristics of patients with pycnodysostosis (PDO). MATERIALS & METHODS: A short interview and clinical examination of seven patients with PDO were performed as well as assessment of the temporomandibular joints and masticatory muscles using the diagnostic criteria for temporomandibular disorders, DC-TMD form. A full set of records were taken including photos and intraoral scan. Finally, existing cone beam computed tomography (CBCT) images and radiographs were also studied. RESULTS: All patients presented with bimaxillary micrognathia, five had a convex profile, and two had a straight profile. In addition, posterior open bite, Angle Class III molar relation with accompanying anterior crossbite and a grooved median palate were common findings. No patient showed symptoms of temporomandibular disorder (TMD) apart from some clicking. Finally, the main radiographic findings were the obtuse mandibular angle, the frontal bossing, the elongation of the coronoid/condylar process and the presence of hypercementosis with obliterated pulp chambers. CONCLUSION: The examined patients with PDO were characterized by dental crowding, malocclusion (anterior crossbite, posterior open bite), hypercementosis, obliterated pulp chambers and deviations in mandibular morphology. In conclusion, patients with PDO have a specific need for dental and orthodontic monitoring with focus on crowding and posterior open bite. The patients will benefit from a long-term orthodontic plan including extractions.

Oro-Dental Characteristics in Patients With Adult-Onset Hypophosphatasia Compared to a Healthy Control Group-A Case-Control Study.

BACKGROUND: Hypophosphatasia (HPP) is a rare inherited disease that affects multiple organ systems including bone and teeth. Limited knowledge exists on dental and oral health in patients with adult-onset HPP (aHPP). OBJECTIVE: The aim of this study was to investigate oro-dental characteristics in patients with aHPP compared to healthy controls. METHODS: This case-control study included 20 patients with aHPP compared to 31 healthy controls. Oro-dental manifestations were examined by standardised interviews, clinical examinations as well as radiological registrations on panoramic radiograph (OP) and cone-beam computed tomography (CBCT) scans. RESULTS: The subjective experience of tooth fractures (p = 0.010), caries in permanent teeth (p = 0.032) and early loss of permanent teeth (p = 0.002) was significantly higher in patients with aHPP compared to the controls. In the aHPP group, the presence of specific teeth (p ≤ 0.045) and attrition of 11 were significantly lower (p = 0.012) compared to the controls. Opacity of a few teeth (p ≤ 0.049), presence of denticles (p = 0.024), the distance between the enamel-cement junction (CEJ) and the marginal bone level at specific sites (p ≤ 0.021) and crown height of 11 (p = 0.017) were significantly higher in patients with aHPP than in healthy controls. CONCLUSION: The results indicate that patients with aHPP have a subjective experience of having poorer dental health. Loss of permanent teeth, less attrition, tooth opacities, denticles and larger distance between CEJ and marginal bone level are possible oro-dental findings in patients with aHPP.

Development and validation of a novel index to assess the perceived impact of sports-related oro-dental trauma among adolescents: findings from Sri Lanka.

BACKGROUND: Sports-related oro- dental trauma, such as tooth fracture, displacement, mobility, and avulsion, cause significant concern among adolescent players due to detrimental impacts. The current study aims to develop, validate and assess the reliability of a simple index as a questionnaire to assess the impact of sports-related oro-dental trauma both untreated and treated, among adolescent school children in Sri Lanka. METHODS: AODTII, an adolescent oro-dental trauma impact index, was developed and validated using a mixed-method approach. Items for the index were generated by quantitative as well as qualitative analysis of the results from Oral Health-Related Quality of Life Questionnaires, personnel interviews with experts and focus group discussions with adolescents. Principal component analysis and Exploratory factor analysis were used to create the index. The index was validated in the Sinhala language, and the reliability of the index was assessed using a separate sample in the school context in the Colombo district. RESULTS: The initial list of 28 items was reduced to 12 by the Principal Component Analysis. Exploratory Factor Analysis categorised the variables into four latent constructs; physical impact, psychosocial effect influenced by peer pressure, the impact of oral health care and the impact caused due to unmet dental trauma treatment need. The cut-off values of the AODTII were based on PCA. The index achieved the Content Validity Ratio of 88.33. The construct validity was assessed with confirmatory factor analysis by developing a structural equation model. It obtained good model fit indices of RMSEA value of 0.067, SRMR of 0.076, CFI of 0.911 and the Goodness of Fit index of 0.95. The homogeneity was ensured with convergent and discriminant validity. The Cronbach's alpha value was 0.768, ensuring reliability. The index assesses the level of impact due to oro- dental trauma and identifies whether the adolescents perceive it significantly or not. CONCLUSION: Twelve-item AODTII emerged as a reliable and valid tool to assess the perceived impact of untreated and treated sports-related oro- dental trauma on Sri Lankan adolescents with implications for its use in other populations. Further research is required to improve the translational value of AODTII. Moreover, the tool is potential as a patient-centred communication tool, clinical adjunct, advocacy tool and a useful OHRQoL index. However, it is needed to be supported end-users' feedback.

Oro-dental characteristics in patients with hypermobile Ehlers-Danlos Syndrome compared to a healthy control group.

BACKGROUND: Ehlers-Danlos syndrome (EDS) is a hereditary disorder that affects the connective tissue and collagen structures in the body characterised by joint hypermobility, skin hyperextensibility and tissue fragility. OBJECTIVE: The aim of the study was to investigate the oro-dental characteristics including measurements of tooth size of 26 patients with hypermobile EDS (hEDS), differentiated by a genetic test, compared to 39 healthy controls. METHODS: Interview, clinical and radiological examination on panoramic radiograph and cone-beam computed tomographic (CBCT) scan were performed. Statistical analyses included Fisher's exact test, paired t test and multiple logistic and linear models adjusted for age and gender. RESULTS: The experience of xerostomia (P = 0.039), local anaesthetic insufficiency (P < 0.001) and tooth extraction complications (P < 0.003) were significantly higher in hEDS compared to controls. The debris index was significantly higher in hEDS (P < 0.001), and the distance between the cement-enamel junction (CEJ) and the bone level on the upper left first incisor and molar and the lower right first molar was significantly larger in hEDS compared to controls (P = 0.021, P = 0.024, P = 0.021, respectively). The crown heights of the upper and lower first incisors were significantly smaller (P = 0.001, P = 0.003, P = 0.002, P < 0.001, respectively) in hEDS compared to controls. When adjusting for debris index, only the distance between CEJ and the marginal bone level on the upper left and lower right molar was associated with hEDS. CONCLUSION: The results indicate that xerostomia, resistance to local anaesthesia, tooth extraction complications, poor oral hygiene, larger distance between CEJ and marginal bone level and small crown heights can be found in patients with hEDS.

Oral and dental findings in emanuel syndrome.

Emanuel Syndrome (ES; OMIM# 609029) is a rare disorder caused by an unbalanced chromosomal translocation [supernumerary der(22)t(11,22)] and characterized by multiple congenital abnormalities. With limited published cases and low prevalence (1:110 000), detailed ES-associated oro-dental findings have not previously been reported. This is a case report of a 14-year-old boy with ES who presented with congenital cardiac, renal, auditory, musculoskeletal problems, and global developmental delay. The patient was managed with risperidone, melatonin, omeprazole, guanfacine, and oxcarbazepine. Anxiety-associated self-injurious behaviour was seen along with stereotypic hand movements. Consistent with previous reports, microcephaly and micrognathia were noted. Oro-facial cleft or gross asymmetry, however, was not observed. Significant oro-dental findings included delayed eruption of primary and permanent teeth, oligodontia (two erupted and five unerupted permanent teeth), and short-root anomaly of central incisors. The patient demonstrated anxiety-triggered bruxism with generalized attrition. This case report provides a comprehensive list of systemic ES findings along with oro-dental manifestations, which have previously not been reported in detail.

Oral hygiene and mouth care for older people in acute hospitals: part 1.

The oral health of older people in acute hospitals has rarely been studied. Hospital admission provides a prime opportunity for identification and rectification of problems, and oral health promotion. This two-part article explores oral hygiene and mouth care provision for older adults in acute hospitals. The first article presents the findings of a literature review exploring oral and dental disease in older adults, the importance of good oral health and mouth care, and the current situation. Searches of electronic databases and the websites of relevant professional health service bodies in the UK were undertaken to identify articles and guidelines. The literature shows a high prevalence of oro-dental disease in this population, with many known detrimental effects, combined with suboptimal oral hygiene and mouth care provision in acute hospitals. Several guidelines exist, although the emphasis on oral health is weaker than other aspects of hospital care. Older adults admitted to acute hospitals have a high burden of oro-dental disease and oral and mouth care needs, but care provision tends to be suboptimal. The literature is growing, but this area is still relatively neglected. Great potential exists to develop oral and mouth care in this context. The second part of this article explores clinical recommendations.

Oro-dental mucoadhesive proniosomal gel formulation loaded with lornoxicam for management of dental pain.

Oro-dental diseases are generally associated with pain that is controlled using oral tablets containing NSAIDs. Lornoxicam, a relatively new NSAID, is effective in relieving pain accompanying different oro-dental problems. The aim of the current research is to prepare oro-dental analgesic and anti-inflammatory gel using provesicular approach to deliver lornoxicam directly to the site of action in the oral cavity. Local administration of lornoxicam is expected to be superior to systemic delivery in pain relieving and poses less GIT adverse effects. Different surfactants were utilized to prepare the proniosomal gels that rapidly transform into nano-sized niosomes after hydration with the oral saliva. The effect of the surfactant structure on vesicles size distribution and entrapment efficiency percentage (EE%) was investigated. The proniosomal formulations were incorporated into carbopol hydrogels that were characterized regarding rheological and mucoadhesion properties. Moreover, ex-vivo mucosal membrane permeation studies were conducted for selected proniosomal gels to quantify the permeation parameters and assess the amount of drug deposited within the oral mucosa. Results revealed that mucoadhesive proniosomes formulation prepared using Span 60 was optimal as it was nano-sized and also showed the highest EE%. The transmucosal flux of lornoxicam, from these proniosomal formulations, across the oral mucosa was significantly higher (p < 0.05) than lornoxicam containing carbopol gel and the percent drug diffused increased more than twofolds. The results collectively suggest that the mucoadhesive proniosomal gels can be assertively considered as a promising carrier for transmucosal delivery of lornoxicam into the oral cavity.

Oral Manifestations and Maxillo-Facial Features in the Acromegalic Patient: A Literature Review.

Background: Acromegaly is a chronic disease caused by an abnormal secretion of growth hormone (GH) by a pituitary adenoma, resulting in an increased circulating concentration of insulin-like growth factor 1 (IGF-1). The main characteristics are a slow progression of signs and symptoms, with multisystemic involvement, leading to acral overgrowth, progressive somatic changes, and a complex range of comorbidities. Most of these comorbidities can be controlled with treatment. The literature reveals that the most evident and early signs are those related to soft tissue thickening and skeletal growth, especially in the head and neck region. Methods: The authors reviewed the available literature on the clinical oro-dental features of acromegaly, selecting articles from PubMed and Google Scholar. The aim of this review was to summarize all the reported clinical oro-dental features of acromegalic patients. Results: The most common facial dimorphisms involved the maxillo-facial district, with hypertrophy of the paranasal sinuses, thickening of the frontal bones, and protruding glabella, which may be associated with joint pain and clicks. Regarding the oro-dental signs, the most frequent are dental diastema (40-43%), mandibular overgrowth (22-24%), mandibular prognathism (20-22%), and macroglossia (54-58%). These signs of acromegaly can be significantly reduced with adequate treatment, which is more effective when initiated early. Conclusions: Increased awareness of acromegaly among dentists and maxillo-facial surgeons, along with the early identification of oro-facial changes, could lead to an earlier diagnosis and treatment, thereby improving patients' quality of life and prognosis.

Oro-dental phenotype in patients with RUNX2 duplication.

Runt-related transcription factor 2 (RUNX2) is well-known for its role in bone development and tooth morphogenesis. Most RUNX2 mutations described in the literature result in loss-of-function mutations of RUNX2 responsible for cleidocranial dysplasia, an autosomal dominant disorder. We describe here the oro-dental phenotype of four patients of a unique family with a 285 kb duplication including the entire sequence of RUNX2, likely responsible for three functional copies of the gene, leading to an increased RUNX2 dosage. Several dental anomalies of number (hypodontia or oligodontia), morphology (microdontia, radiculomegaly, taurodontism or dens invaginatus) and tooth position (rotation) were found in these patients.

ORO-Dental Manifestations in West Syndrome.

BACKGROUND: West Syndrome is a rare epileptic encephalopathy involving infantile spasms, altered electroencephalographic pattern with hypsarrhythmia, and psychomotor development delay. It arises in paediatric patients, generally within the first year of life, in symptomatic or idiopathic form depending on the presence of hereditary features or not. CASE REPORT: In this report it is described the case of a West syndrome patient affected by multiple caries, gingival enlargement, dental eruption abnormalities, high-arched palate and MIH, treated at the dental clinic of University of Bari "Aldo Moro". DISCUSSION: West patients present with multiple oral abnormalities, including altered eruption timing, teeth agenesis, teeth shape and position abnormalities, plaque and calculus accumulation, malocclusions and bad oral habits (mouth breathing, nails biting). CONCLUSION: West Syndrome patients' oral hygiene is generally bad due to their motor difficulty and to their low compliance towards dentists, which entails general anaesthesia to perform dental treatment. West Syndrome pharmacological treatment is usually based on antiepileptic drugs and/or ACTH. These medications are well known for their ability to induce gingival enlargement, increasing the possibility of plaque accumulation and gingivitis development.

Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients.

Prader-Willi syndrome (PWS) is a distinct neurodevelopmental disorder associated with the deletion within the chromosomal 15q11-q13 region or uniparental disomy of chromosome 15. The etiologic heterogeneity of PWS makes it very difficult to establish uniform diagnostic methods which would result in the detection of most affected individuals. The objective was to report the clinical criteria and oro-dental features in PWS, to report the effect of diet and laser acupuncture on PWS and highlighted an easy effective method for early diagnosis of individuals with PWS. The study included seventeen cytogenetically proven individuals with Prader-Willi syndrome. These patients were subjected to meticulous history taking, clinical examination including oro-dental examination, bone densitometry and neuropsychiatric evaluation. They received laser acupuncture sessions in addition to nutrition intervention. All cases had characteristic facies, hypotonia and various psychosocial difficulties. Other criteria of PWS were present in different percentages. Karyotyping revealed deletion 15q11-q13 in 6 patients, and fluorescence in situ hybridization (FISH) revealed a microdeletion in 15q11-q13 in the other 11 patients. To our knowledge, partial ankyloglossia, median grooved tongue and hypodontia have not previously been reported in PWS patients. Laser acupuncture sessions and diet were effective in weight decline for PWS patients. Our study emphasizes the importance of early detection of PWS, laser sessions, diet restriction and oro-dental examination in the follow up of patients with Prader Willi syndrome.

Oro-dental pathologies in acromegaly.

PURPOSE: Oro-dental pathologies (ODP) such as enlargement of the tongue, mandibular prognathism, and spaced teeth are characteristic features of acromegaly. Their frequency of occurrence during the course of the disease is largely unresolved. Purpose of this study was to assess ODP and oro-dental treatments in patients with acromegaly with regard to the length of the diagnostic process, tumor histology, and quality of life (QoL). METHODS: Single-center retrospective survey study using questionnaires on dental symptoms, diagnostic process, and treatment in patients with acromegaly operated on a growth hormone-secreting pituitary adenoma. The association between ODP and QoL was assessed using the Short-Form 36 (SF-36) Health Survey. RESULTS: 145/314 patients completed the questionnaires. 80.7% were affected by any ODP, most frequently enlargement of the tongue (57.9%), spaced teeth (42.8%), mandibular growth (24.1%), and mandibular prognathism (22.1%). ODP were significantly more frequent in patients with sparsely vs. densely granulated adenomas (p = 0.045). Early diagnosis within 2 years was associated with significantly fewer ODP than later diagnosis (68.5 vs. 87.2%, p = 0.009). Treatments included dental crowns (16.6%), dental bridges (12.4%), dental implants (9.7%), dental prostheses (3.4%), orthodontal (i.e., braces, 6.9%), and surgical correction of the teeth (2.1%). Physical QoL was significantly lower in patients with ODP than in those without (p = 0.014). CONCLUSION: In our large series of patients, four of five patients were affected by ODP at any time during the course of the disease. The results highlight the importance of early identification and treatment of oro-dental problems in patients with acromegaly as hallmarks of the disease.

Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.

Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt. Further, short left mandibular ramus and bifid cingulum in the boy and short right mandibular ramus in his father were observed. Mutation analysis revealed a novel homozygous nonsense mutation c.487G>T in the second exon of the HMX1 that predicted to introduce a premature stop codon at position 163 (p.E163*). Parents showed the heterozygous state of the detected mutation. Investigations in a process as complex as craniofacial development suggest that there are still additional, as yet unidentified, genes that play in orchestrate to determine the final phenotype.

Oral Health and Brain Injury: Causal or Casual Relation?

BACKGROUND: To systematically review the current literature investigating the association between oral health and acquired brain injury. METHODS: A structured search strategy was applied to PubMed, Embase, Web of Science, and CENTRAL electronic databases until March 2017 by 2 independent reviewers. The preferred reporting items for systematic review and meta-analysis guidelines were used for systematic review. RESULTS: Even though the objective was to assess the association between oral health and acquired brain injury, eligible studies focused solely on different forms of stroke and stroke subtypes. Stroke prediction was associated with various factors such as number of teeth, periodontal conditions (even after controlling for confounding factors), clinical attachment loss, antibody levels to Aggregatibacter actinomycetemcomitans and Prevotella intermedia. The literature showed no consensus on the possible association between gingivitis and stroke. Patients with stroke generally had poorer oral hygiene practices and oral health. Dental prophylaxis and professional intervention reduced the incidence of stroke. CONCLUSIONS: Overall, oral health and stroke were related. Periodontitis and tooth loss were independently associated with stroke. However, prevention and timely intervention may reduce the risk of stroke. Stroke was the main cerebral lesion studied in the literature, with almost no publications on other brain lesions.

Homeobox genes and tooth development: Understanding the biological pathways and applications in regenerative dental science.

OBJECTIVES: Homeobox genes are a group of conserved class of transcription factors that function as key regulators during the embryonic developmental processes. They act as master regulator for developmental genes, which involves coordinated actions of various auto and cross-regulatory mechanisms. In this review, we summarize the expression pattern of homeobox genes in relation to the tooth development and various signaling pathways or molecules contributing to the specific actions of these genes in the regulation of odontogenesis. MATERIALS AND METHODS: An electronic search was undertaken using combination of keywords e.g. Homeobox genes, tooth development, dental diseases, stem cells, induced pluripotent stem cells, gene control region was used as search terms in PubMed and Web of Science and relevant full text articles and abstract were retrieved that were written in English. A manual hand search in text books were also carried out. Articles related to homeobox genes in dentistry and tissue engineering and regenerative medicine of odontogenesis were selected. RESULTS: The possible perspective of stem cells technology in odontogenesis and subsequent analysis of gene correction pertaining to dental disorders through the possibility of induced pluripotent stem cells technology is also inferred. CONCLUSIONS: We demonstrate the promising role of tissue engineering and regenerative medicine on odontogenesis, which can generate a new ray of hope in the field of dental science.

Clinical manifestation of Hurler syndrome in a 7 year old child.

Mucopolysaccharidosis type I (MPS I H, Hurler syndrome) is a rare autosomal recessive inborn deficiency in the metabolism of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, resulting from deficiency of Alpha-L-iduronidase enzyme. This condition is characterized by accumulation of incompletely degraded glycosaminoglycans into various organs of body, which leads to impairment of organs and body functions. Such children appear nearly normal at birth; however, if left untreated, show a progressive mental and physical deterioration leading to death due to cardiorespiratory failure before the second decade of life. Pedodontists have a role for early diagnosis, rendering corrective and preventive treatment to the developing dentition, and referring the patient to the concerned specialities. An interesting case of a seven year old boy with a combination of skeletal, neurological, ophthalmologic, oro-dental and radiological findings of this diverse and devastating clinical entity with MPS I-(Hurler syndrome) has been presented here in this case report.

Influence of Education on Oro-dental Knowledge among School Hygiene Instructors.

BACKGROUND AND AIMS: Recent progresses in preventive dentistry and their correct application in many developed coun-tries have remarkably decreased the rate of oro-dental diseases in children and teenagers, while the rate of oro-dental diseases is on the rise among the children in developing countries. The aim of this study was to evaluate the impact of educating school health care instructors by measuring their level of oral health knowledge and their opinions about the impact of oral health and preventive dentistry. MATERIALS AND METHODS: This was a cross-sectional descriptive-analytical study. Questionnaires were administered before and after an educational lecture to school health care instructors in Hamadan, Iran. Data were analyzed using paired t-test. RESULTS: In this study, 31 school health care instructors took part. The percentage of instructors in poor knowledge level was 22.6% before the educational lecture (education), which decreased to 0 percent after the education (P < 0.05). The percentage of instructors with good knowledge level was 3.2%, which increased to 80.6% after the education (P < 0.05). CONCLUSION: Close cooperation between universities and the Ministry of Health and Medical Education will lead to im-provements in the level of knowledge and awareness of school health care instructors.

Traumas dentarios en población infantil de Matanzas. Año 2009 / Dental trauma in an infantile population of Matanzas. 2009

El traumatismo accidental de los dientes es considerado una afección bucodental y quizás uno de los accidentes más dramáticos que le suceden a un individuo, y su frecuencia en la clínica odontológica es cada día mayor. Con el propósito de identificar la frecuencia de traumatismos dentarios en adolescentes con dentición permanente, se realizó un estudio observacional, descriptivo y transversal, cuyo universo comprendió 1 065 estudiantes de las escuelas secundarias básicas Héroes del Moncada y Armando Mestre, del área de salud de Milanés, de la ciudad de Matanzas, en el curso escolar 2008-2009. De ellos se encontraron afectados por algún tipo de trauma dentario un total de 187 estudiantes entre las edades de 10 y 15 años. Los resultados permitieron identificar que el sexo masculino (52,9 %) y el grupo de edad de 14 a 15 años fueron los más representados (35,8 %); los dientes más afectados por traumas fueron el 11 y el 21, y la lesión traumática más encontrada fue la fractura no complicada de la corona (26,2 %).

The accidental trauma of the teeth is considered a oro-dental disease and may be one of the most dramatic accidents happening to people; its frequency in the dentist clinic increases every day. With the purpose of identifying the frequency of the dental trauma in teenagers with permanent dentition, we developed an observational, descriptive, cross-sectional study, which universe was formed by 1 065 students of the junior high schools Heroes del Moncada and Armando Mestre, of the health area Milanés, Matanzas city, in the school year 2008-2009. A total of 187 students aged from 10 to 15 years were affected for some dental trauma. The results allowed identifying that the male gender and the age group 14-15 years were the most represented ones (35,8 %); the most affected by trauma teeth were the 11 and the 21 ones, and the most traumatic lesion found was the non-complicated crown fracture (26,2 %).