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1.
J Clin Periodontol ; 2024 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-38655768

RESUMEN

AIM: This review is intended to adapt the current conceptual framework in dental education based on four domains to propose a set of competences, learning outcomes and methods of teaching, learning and assessment for undergraduate education in periodontology. REVIEW: Based on the current framework of competences and learning outcomes recommended by the Association for Dental Education in Europe (ADEE), undergraduate education in periodontology has been updated using the classification and clinical practice guidelines for the diagnosis and treatment of periodontal and peri-implant diseases. CONCLUSIONS: Specific learning outcomes have been proposed within each competence area, that is in Domain I (n = 10), Domain II (n = 13), Domain III (n = 33) and Domain IV (n = 12). Teaching methods and learning activities based on the different dimensions of the cognitive process have been proposed. Additionally, 10 key learning outcomes have been proposed as exit outcomes, which implies their accomplishment within the final assessment of any graduating student.

2.
Healthcare (Basel) ; 12(5)2024 Feb 20.
Artículo en Inglés | MEDLINE | ID: mdl-38470614

RESUMEN

Disabled persons' chairside dentistry is challenging. We aimed for a retrospective breakdown of dental services delivered to disabled patients by dental students and to discuss feasibility of a chairside approach. Consecutive patients, who received scheduled dental treatment by dental students from 2002 to 2021, were included. Demographic data, medical diagnoses, number of treatment sessions, performed treatments, and treatment break-offs were collected and analyzed with descriptive statistics. In total, 224 individuals with various disabilities (mean age 36.4 ± 14.6 years) received dental services in 2282 sessions altogether (10.3 ± 11. sessions per patient). Professional tooth cleaning was the most frequently provided treatment (55.8% of sessions). A total of 654 teeth were restored with fillings, 97 teeth were extracted, 56 teeth had endodontic treatment, and 25 removable dentures were fitted. Treatment break-off due to incompliance and referral to dental general anesthesia occurred in 74 patients (33%). Chairside treatment of disabled persons by dental students is feasible in many cases. Our study may serve as an incentive for clinicians/researchers to report on treatment modalities and outcomes of chairside dentistry in patients with special oral health care needs, preferably by the use of prospective study designs, to contribute data and strategies in the fight for control of oral health inadequacies.

3.
J Clin Periodontol ; 51(4): 431-440, 2024 04.
Artículo en Inglés | MEDLINE | ID: mdl-38140892

RESUMEN

AIM: Few genome-wide association studies (GWAS) have been conducted for severe forms of periodontitis (stage III/IV grade C), and the number of known risk genes is scarce. To identify further genetic risk variants to improve the understanding of the disease aetiology, a GWAS meta-analysis in cases with a diagnosis at ≤35 years of age was performed. MATERIALS AND METHODS: Genotypes from German, Dutch and Spanish GWAS studies of III/IV-C periodontitis diagnosed at age ≤35 years were imputed using TopMed. After quality control, a meta-analysis was conducted on 8,666,460 variants in 1306 cases and 7817 controls with METAL. Variants were prioritized using FUMA for gene-based tests, functional annotation and a transcriptome-wide association study integrating eQTL data. RESULTS: The study identified a novel genome-wide significant association in the FCER1G gene (p = 1.0 × 10-9 ), which was previously suggestively associated with III/IV-C periodontitis. Six additional genes showed suggestive association with p < 10-5 , including the known risk gene SIGLEC5. HMCN2 showed the second strongest association in this study (p = 6.1 × 10-8 ). CONCLUSIONS: This study expands the set of known genetic loci for severe periodontitis with an age of onset ≤35 years. The putative functions ascribed to the associated genes highlight the significance of oral barrier tissue stability, wound healing and tissue regeneration in the aetiology of these periodontitis forms and suggest the importance of tissue regeneration in maintaining oral health.


Asunto(s)
Estudio de Asociación del Genoma Completo , Periodontitis , Humanos , Adulto , Genotipo , Periodontitis/genética , Factores de Riesgo , Sitios Genéticos/genética
4.
Clin Oral Investig ; 27(5): 2089-2095, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37022527

RESUMEN

OBJECTIVES: Orthodontic patients struggle with interdental cleaning calling for simpler mechanical devices to reduce the high plaque levels. The present study aimed to compare the cleansing efficacy of an oral irrigator with that of dental flossing in patients with fixed braces after 4 weeks of home-use. MATERIALS AND METHODS: The study design is a randomized and single-blinded cross-over study. After 28 days using the products at home, hygiene indices (Rustogi Modified Navy Plaque Index (RMNPI); gingival bleeding index (GBI)) were compared between test (oral irrigator) and control product (dental floss). RESULTS: Seventeen adult individuals finalized the study. After 28 days of cleaning with the oral irrigator, RMNPI was 54.96% (46.91-66.05) compared to 52.98% (42.75-65.60) with dental floss (p = 0.029). Subgroup analysis revealed that the higher cleansing efficacy of the dental floss is attributable to buccal and marginal areas. GBI after the test phase with the oral irrigator was 12.96% (7.14-24.31) and statistically significantly higher compared to 8.33% (5.84-15.33) with dental floss (p = 0.030) which could be seen in all subgroups. CONCLUSIONS: Oral irrigators do not remove plaque and reduce gingival bleeding as efficiently as dental floss in easily accessible regions. However, in posterior regions, where the patients struggled with the application of dental floss, the oral irrigator showed similar results. CLINICAL RELEVANCE: Oral irrigators should only be recommended to orthodontic patients who cannot use interdental brushes and are not compliant with dental flossing.


Asunto(s)
Placa Dental , Gingivitis , Adulto , Humanos , Dispositivos para el Autocuidado Bucal , Estudios Cruzados , Cepillado Dental , Gingivitis/prevención & control , Higiene Bucal , Placa Dental/prevención & control , Índice de Placa Dental , Método Simple Ciego
5.
Front Immunol ; 14: 1157421, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36960056

RESUMEN

Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, lack of attached gingiva and thin and fragile gums leading to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. pEDS is caused by heterozygous missense mutations in C1R and C1S genes of the classical complement C1 complex. Previously we showed that pEDS pathogenic variants trigger intracellular activation of C1r and/or C1s, leading to extracellular presence of activated C1s. However, the molecular link relating activated C1r and C1s proteases to the dysregulated connective tissue homeostasis in pEDS is unknown. Using cell- and molecular-biological assays, we identified activated C1s (aC1s) as an enzyme which degrades collagen I in cell culture and in in vitro assays. Matrix collagen turnover in cell culture was assessed using labelled hybridizing peptides, which revealed fast and comprehensive collagen protein remodeling in patient fibroblasts. Furthermore, collagen I was completely degraded by aC1s when assays were performed at 40°C, indicating that even moderate elevated temperature has a tremendous impact on collagen I integrity. This high turnover is expected to interfere with the formation of a stable ECM and result in tissues with loose compaction a hallmark of the EDS phenotype. Our results indicate that pathogenesis in pEDS is not solely mediated by activation of the complement cascade but by inadequate C1s-mediated degradation of matrix proteins, confirming pEDS as a primary connective tissue disorder.


Asunto(s)
Complemento C1s , Síndrome de Ehlers-Danlos , Humanos , Colágeno Tipo I/genética , Síndrome de Ehlers-Danlos/genética , Síndrome de Ehlers-Danlos/patología , Mutación Missense , Complemento C1s/genética
6.
Clin Oral Investig ; 27(2): 603-611, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36272010

RESUMEN

OBJECTIVES: To compare the cleansing efficacy of an auto-cleaning device with nylon bristles (Y-brush®) to that of manual toothbrushing. MATERIALS AND METHODS: Twenty probands refrained from oral hygiene for 3 days. Rustogi Modified Navy Plaque Index was assessed before and after (randomized) toothbrushing either with the auto-cleaning device for 5 s per jaw or with a manual toothbrush for a freely chosen time up to 4 min. The clinical investigation was repeated in a cross-over design. In a third trial period, the brushing time for auto-cleaning was increased to 15 s per jaw. The study was supplemented by plaster cast analyses. RESULTS: Full-mouth plaque reduction was higher with manual toothbrushing than with auto-cleaning for 5 s per jaw (p < 0.001). There was no statistically significant difference on smooth tooth surfaces but on marginal and interdental sites. Increasing the brushing time of auto-cleaning to 15 s per jaw resulted in a comparable full-mouth plaque reduction as with manual toothbrushing (p = 0.177). In 95% of individuals, the device was too short not completely covering second molars. In 30.67% of teeth, the gingival margin was not covered by bristles. CONCLUSIONS: Auto-cleaning devices with nylon bristles have a future potential to reach plaque reduction levels comparable to manual toothbrushing, although manufacturers must focus on improving an accurate fit. CLINICAL RELEVANCE: Under the premise of an ameliorated fit, the auto-cleaning device might be recommendable for people with low brushing efficacy. Interdental sites remain a failure point if adjunct interdental cleaning is not viable.


Asunto(s)
Gingivitis , Diente , Humanos , Cepillado Dental , Nylons , Dispositivos para el Autocuidado Bucal , Proyectos Piloto , Índice de Placa Dental , Método Simple Ciego , Diseño de Equipo
7.
Healthcare (Basel) ; 10(12)2022 Dec 10.
Artículo en Inglés | MEDLINE | ID: mdl-36554029

RESUMEN

Papillon-Lefèvre syndrome (PLS) is a rare hereditary disease characterized by palmoplantar hyperkeratosis (PPK) and periodontitis in the primary and permanent dentition, usually resulting in edentulism in youth. Subsiding of PLS-associated periodontitis through specific therapy has occasionally been reported. We aimed to systematically assess periodontal treatment strategies that may decelerate disease progression. A systematic literature search was conducted at PubMed/LIVIVO/Ovid (Prospero registration number CRD42021223253). Clinical studies describing periodontal treatment success-defined as loss of ≤four permanent teeth because of periodontitis and the arrest of periodontitis or probing depths ≤ 5 mm-in individuals with PLS followed up for ≥24 months. Out of the 444 primarily identified studies, 12 studies reporting nine individuals were included. The timely extraction of affected or, alternatively, all primary teeth, compliance with oral hygiene instructions, supra- and subgingival debridement within frequent supportive periodontal care intervals, and-in eight patients-adjunctive systemic antibiotic therapy (mostly amoxicillin/metronidazole) effected a halt in disease progression. The suppression of Aggregatibacter actinomycetemcomitans below the detection limit was correlated with the subsiding of periodontitis. Successful controlling of PLS-associated periodontitis may be achieved if high effort and patient compliance are provided.

8.
J Clin Periodontol ; 49(12): 1244-1252, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35833531

RESUMEN

AIM: Periodontal Ehlers-Danlos syndrome (pEDS) is a monogenic type of Ehlers-Danlos syndrome characterized by periodontal destruction at a young age. The present study aimed to document the oral phenotype of pEDS based on prospective clinical investigations. MATERIALS AND METHODS: Thirty-five adult individuals from 13 families with a clinically and genetically confirmed diagnosis of pEDS underwent a systematic oral assessment. RESULTS: Periodontitis stage 3 or 4 or edentulism due to periodontal destruction were diagnosed in 94% of the individuals. First permanent tooth loss was reported at the age of 21.5 years (median; range 13-43 years). Deep periodontal pockets were infrequent, with 94% measuring <4 mm. However, there was increased clinical attachment loss (CAL) averaging 8 mm (range 4-13 mm), and the probability of being edentate between the age of 35 and 44 years was 28-47% compared with less than 0.25% of the general population. Radiographic anomalous findings were only found in a portion of subjects and consisted of fused roots of maxillary second molars (81%), root hypoplasia (57%), taurodontism (26%) and tooth rotation of premolars (67%). As such, radiographic findings are not considered common characteristics of pEDS. CONCLUSIONS: Characteristic oral traits of pEDS in adults are severe CAL with shallow probing depths and marked gingival recession. This is complemented by a lack of attached gingiva. These indications need to be paralleled by genetic analyses to diagnose pEDS unambiguously.


Asunto(s)
Síndrome de Ehlers-Danlos , Recesión Gingival , Periodontitis , Humanos , Síndrome de Ehlers-Danlos/complicaciones , Estudios Prospectivos , Recesión Gingival/etiología , Diente Premolar , Pérdida de la Inserción Periodontal
9.
Am J Med Genet C Semin Med Genet ; 187(4): 520-526, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34741498

RESUMEN

Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders. Patients with EDS exhibit distinct pathologies of the teeth and the oral cavity. Here, we summarize the current knowledge in the various EDS types, in particular regarding severe changes in oral health-related quality of life, the differential emergence of periodontitis, characteristic yet highly cumbersome dental manifestations, apparent anomalies of oral soft tissues, and relevant issues related to dental implantology. Resolution of remaining open questions will primarily rely on the standardization of diagnostic criteria. Clinical centers that specialize on this rare pathology need to apply congruent approaches for exact characterization of clinical features in conjunction with genetic validation that should be reached without exception in all patients and relevant family members.


Asunto(s)
Enfermedades del Tejido Conjuntivo , Síndrome de Ehlers-Danlos , Inestabilidad de la Articulación , Anomalías Cutáneas , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Humanos , Calidad de Vida
10.
Healthcare (Basel) ; 9(10)2021 Oct 11.
Artículo en Inglés | MEDLINE | ID: mdl-34683028

RESUMEN

The aim of this study was to compare dental students' self-perception of oral health with the results of a clinical examination of the masticatory system. Seventy-four dental students (38 (51.4%) females and 36 (48.6%) males) completed the Oral Health Impact Profile questionnaire (OHIP-G-14) and underwent a clinical examination according to the Graz Dysfunction Index (GDI). Data were analyzed with descriptive and comparative statistics. Median OHIP-G-14 scores were 3 (IQR 0-6) in the total collective, 4 (1-11) in females, and 2 (0-4) in males (p = 0.072). A score of 0 was found in 29.7% of the sample. The results of the GDI were 50% "normal function", 43.2% "adaptation", 5.4% "compensation", and 1.4% "dysfunction". The comparison of OHIP-G-14 scores and DGI groups showed a significant difference (p = 0.031). Based on the questionnaire, less than one third of the sample indicated maximum oral health-related quality of life. In contrast, the GDI revealed "normal function" or "adaptation" in 93.2%. Dental students underappreciated their oral health condition. Health assessments should not be solely questionnaire-based, especially in health professionals (-to-be). To establish a valid diagnosis of the state of health, self-assessment must be complemented by an objective clinical examination, e.g., GDI.

11.
Quintessence Int ; 52(8): 720-726, 2021 Jul 20.
Artículo en Inglés | MEDLINE | ID: mdl-33880911

RESUMEN

OBJECTIVES: Due to the growing popularity of body modifications, dental practitioners are increasingly confronted with oral piercing and its implications. Successful consultation and subsequent change of patient behavior require an understanding of the patient's personality and the deep reasons that explain this self-injurious behavior. This is the first study evaluating personality traits and aspects of body perception in a cohort of adults with oral piercing. METHOD AND MATERIALS: Sixty-two individuals with labial and/or tongue piercing completed three validated questionnaires assessing body perception and personality traits (Questionnaire for assessing one's own body; Sensation Seeking Scale; Big Five Inventory Scale). Fisher Exact probability test and Mann-Whitney U test were used to determine differences in frequency data and in psychologic parameters between subgroups. RESULTS: Eighteen single- and 44 multiple-pierced individuals completed the study (53 women, 9 men). The odds for being multiple pierced was significantly higher for tongue than for labial piercing (3.89 and 0.63, respectively; P = .003). In all psychologic parameters measured, the sample showed score distributions within reference norms. However, multiple-pierced individuals displayed a significantly lesser feeling of attractiveness, less self-confidence, and more uncertainty/anxiety towards their body than single-pierced probands (P < .05). CONCLUSION: Psychologic characteristics of individuals with oral piercing do not fundamentally differ from those of the average population. Therefore, dental practitioners should focus on the medical and dental implications of oral piercing in the counseling of patients who have or intend to have such done.


Asunto(s)
Imagen Corporal , Perforación del Cuerpo , Adulto , Odontólogos , Femenino , Humanos , Masculino , Rol Profesional , Encuestas y Cuestionarios , Lengua
12.
Healthcare (Basel) ; 9(3)2021 Mar 23.
Artículo en Inglés | MEDLINE | ID: mdl-33807082

RESUMEN

The aim of this study was to investigate the operating conditions of dentists in Central Europe during the first coronavirus disease 2019 (COVID-19) lockdown. A survey including 24 questions was emailed to dentists in Austria, Germany, Switzerland and South Tyrol (Italy). Questions regarding dentists' field of work, working hours, treatments performed, personal protective equipment and protocols, and economic consequences were asked. 1731 participants were included. 30.4% of participants worked mainly in Austria, 60.8% in Germany, 6% in Switzerland and 2.1% in South Tyrol. A country-specific analysis for the situation of South Tyrol was not possible due to the low participation; 53.7% of German, 45.5% of Austrian, and 11.7% of Swiss respondents reduced their working hours; 42.8% of Austrian, 41.5% of Swiss, and 17.3% of German participants closed their offices temporarily; 52.2% of respondents provided emergency service including pain management, restorations/temporaries, and denture repairs. A lack of access to FFP2/FFP3 (filtering facepiece) respirators was indicated by 59.4% Austrian, 38.0% German, and 11.7% Swiss dentists (p < 0.001). FFP2/FFP3 respirators were, when available, most frequently used in Austria (86.9%), followed by Switzerland (61.2%) and Germany (56.7%) (p < 0.001). Financial consequences could not be conclusively quantified by 58.6% of the participants. Most respondents in all partaking countries made use of governmental support. A lack of blueprints/guidelines resulted in heterogeneous working conditions. In consideration of a potentially high risk of infection in the dental setting, non-emergency dental treatments were largely suspended in all participating countries.

13.
J Dermatol ; 48(4): 537-541, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33580910

RESUMEN

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive genodermatosis characterized by palmoplantar keratoderma and severe periodontitis leading to premature loss of primary and permanent teeth. PLS is caused by loss-of-function mutations in CTSC, lacking functional cathepsin C, which impairs the activation of neutrophil serine proteases. Precise pathogenesis of periodontal damage is unknown. Patient 1 presented with well-demarcated, transgredient, diffuse, palmoplantar keratoderma and psoriasiform lesions from the age of 2 years. Based on severe and recurrent periodontal inflammation, his dentist had diagnosed PLS at the age of 3 years and provided a strict oral hygiene regimen with repeated adjunct antibiotic therapies. Oral acitretin 10 mg/day along with tretinoin ointment at the age of 9 greatly improved palmoplantar keratoderma. Aged 18 years, the patient exhibited an intact permanent dentition and absence of periodontal disease. Patient 2, a 30-year-old man, suffered from transgredient, diffuse, palmoplantar keratoderma with fissuring from the age of 2 months, marked psoriasiform plaques on elbows and knees, and nail dystrophy. Intriguingly, without specific dental treatment, teeth and dental records were unremarkable. He was referred with a suspected diagnosis of psoriasis. Both patients were otherwise healthy, blood tests and sonography of internal organs were within normal limits. Panel sequencing revealed loss-of-function mutations in CTSC, c.322A>T (p.Lys108Ter) and c.504C>G (p.Tyr168Ter) in patient 1 and homozygous c.415G>T (p.Gly139Ter) in patient 2. The final diagnosis of unusual PLS was made. PLS should be considered in palmoplantar keratoderma lacking periodontitis or tooth loss.


Asunto(s)
Queratodermia Palmoplantar , Enfermedad de Papillon-Lefevre , Adolescente , Adulto , Catepsina C/genética , Preescolar , Dentición Permanente , Homocigoto , Humanos , Lactante , Queratodermia Palmoplantar/diagnóstico , Queratodermia Palmoplantar/genética , Masculino , Enfermedad de Papillon-Lefevre/complicaciones , Enfermedad de Papillon-Lefevre/diagnóstico , Enfermedad de Papillon-Lefevre/genética
14.
Biomolecules ; 11(2)2021 01 24.
Artículo en Inglés | MEDLINE | ID: mdl-33498938

RESUMEN

We report an extremely rare case of combined classical and periodontal Ehlers-Danlos syndrome (EDS) with early severe periodontitis and a generalized lack of attached gingiva. A German family with classical EDS was investigated by physical and dental evaluation and exome and Sanger sequencing. Due to the specific periodontal phenotype in the affected child, an additional diagnosis of periodontal EDS was suspected. Physical and genetic examination of two affected and three unaffected family members revealed a family diagnosis of classical EDS with a heterozygous mutation in COL5A1 (c.1502del; p.Pro501Leufs*57). Additional to the major clinical criteria for classical EDS-generalized joint hypermobility, hyperelastic skin, and atrophic scarring -the child aged four years presented with generalized alveolar bone loss up to 80%, early loss of two lower incisors, severe gingival recession, and generalized lack of attached gingiva. Due to these clinical findings, an additional diagnosis of periodontal EDS was suspected. Further genetic analysis revealed the novel missense mutation c.658T>G (p.Cys220Gly) in C1R in a heterozygous state. Early severe periodontitis in association with generalized lack of attached gingiva is pathognomonic for periodontal EDS and led to the right clinical and genetic diagnosis in the present case.


Asunto(s)
Colágeno Tipo V/genética , Síndrome de Ehlers-Danlos/fisiopatología , Enfermedades Periodontales/fisiopatología , Preescolar , Complemento C1r , Síndrome de Ehlers-Danlos/complicaciones , Exoma , Salud de la Familia , Femenino , Heterocigoto , Humanos , Inflamación , Mutación , Enfermedades Periodontales/complicaciones , Fenotipo , Análisis de Secuencia de ADN
15.
Clin Oral Investig ; 25(1): 247-253, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32504217

RESUMEN

OBJECTIVES: To compare the cleansing efficacy of a representative "ten seconds" auto-cleaning device with that of uninstructed manual toothbrushing in a pilot study. MATERIALS AND METHODS: Twenty periodontally healthy probands refrained from oral hygiene for 3 days. Baseline full-mouth plaque scores (Rustogi Modified Navy Plaque Index, RMNPI) were assessed. After randomization, probands cleaned their teeth either with the auto-cleaning test device according to the manufacturer's protocol or with a manual toothbrush. Plaque reduction was assessed by two aligned blinded investigators. After a 2-week recovery, the clinical investigation was repeated in a crossover design. The brushing pattern of the auto-cleaning device was analyzed in probands' casts. RESULTS: Full-mouth plaque reduction was 11.37 ± 3.70% for the auto-cleaning device and 31.39 ± 5.27% for manual toothbrushing (p < 0.0001). The investigation of the auto-cleaning device's brushing pattern in dental casts revealed a positive relationship of bristle rows in contact with tooth surfaces and the cleansing efficacy in the respective areas. A maximum of 2/4 bristle rows were in contact with the tooth surfaces; in some areas, the bristles had no contact to the teeth. CONCLUSIONS: Uninstructed manual toothbrushing is superior to auto-cleaning. The alignment and density of the auto-cleaning device's bristle rows need to be improved, and assorted sizes would be necessary to cover different jaw shapes. CLINICAL RELEVANCE: The auto-cleaning device has been developed to accommodate individuals with poor dexterity or compliance. To date, it is unable to provide sufficient plaque reduction due to an inappropriate bristle alignment and poor fit with diverse dental arches.


Asunto(s)
Electrónica , Diseño de Equipo , Cepillado Dental , Estudios Cruzados , Índice de Placa Dental , Humanos , Proyectos Piloto , Método Simple Ciego
16.
Genet Med ; 23(2): 316-322, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33005042

RESUMEN

PURPOSE: We report prospective clinical investigations of children affected with periodontal Ehlers-Danlos syndrome (pEDS). The main clinical features of pEDS in adults are early severe periodontitis, generalized lack of attached gingiva, and pretibial hemosiderin plaques due to dominant pathogenic variants in the C1R or C1S genes. METHODS: Nineteen children with a parent diagnosed with molecularly confirmed pEDS underwent physical examination including oral and radiological investigations followed by genetic testing. RESULTS: The only consistent manifestation of pEDS in childhood was a characteristic gingival phenotype: generalized lack of attached gingiva. All children with this gingival phenotype had inherited the familial pathogenic variant (n = 12) whereas the gingival phenotype was absent in children without the familial pathogenic variant (n = 7). Easy bruising was reported in eight affected and zero unaffected children. Other manifestations of pEDS were rarely present in children. Only 2/12 affected children aged 8 and 13 years fulfilled the clinical criteria for pEDS. CONCLUSION: Generalized lack of attached gingiva is a pathognomonic feature of pEDS and the only clinical finding that is consistently present in affected adults and children. This is important because an early diagnosis may facilitate better dental hygiene in childhood, which may be essential to prevent early dental loss.


Asunto(s)
Síndrome de Ehlers-Danlos , Periodontitis , Adulto , Niño , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Encía , Humanos , Fenotipo , Estudios Prospectivos
17.
Clin Oral Investig ; 24(10): 3527-3528, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32895769

RESUMEN

In the pedigree, one of the individuals was marked as unaffected whereas it is heterozygous for the SLC24A4 mutation.

18.
Acta Derm Venereol ; 100(7): adv00092, 2020 Mar 25.
Artículo en Inglés | MEDLINE | ID: mdl-32147746

RESUMEN

Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and variable tissue fragility. However, there are limited published data on the dental manifestations of EDS. This review systematically assessed the spectrum of published dental anomalies in various types of EDS. Twenty-four individual case reports/series and 3 longer case-control studies, reporting on a total of 84 individuals with a clinical diagnosis of EDS, were included in the data analysis. The main dental features listed in classical EDS were pulp calcification and localized root hypoplasia. Common dental abnormalities observed in vascular EDS were pulp shape modifications (52.2%), exceeding root length (34.8%), and molar root fusion (47.8%). Dentinogenesis imperfecta is a consistent finding in osteogenesis imperfecta/EDS overlap syndrome. Data on dental manifestations in other types of EDS are both rare and generally inconclusive.


Asunto(s)
Calcificaciones de la Pulpa Dental/etiología , Síndrome de Ehlers-Danlos/complicaciones , Anomalías Dentarias/etiología , Enfermedades Dentales/congénito , Raíz del Diente/anomalías , Humanos , Anomalías Dentarias/patología , Enfermedades Dentales/etiología
19.
Clin Oral Investig ; 24(10): 3519-3525, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32034543

RESUMEN

OBJECTIVES: Biallelic variants in solute carrier family 24 member 4 (SLC24A4) have been previously reported to cause non-syndromic autosomal recessive amelogenesis imperfecta (AI) of the pigmented hypomaturation type (MIM #615887). We here describe a novel variant in SLC24A4 causing mild enamel hypomaturation defects also in heterozygous individuals. MATERIALS AND METHODS: In the present pedigree analysis, a large consanguineous Syrian family with AI of the hypomaturation type was investigated by clinical and dental evaluation, and exome and Sanger sequencing. Dental histological investigations of seven primary and two permanent teeth were performed. RESULTS: Homozygous variants in SLC24A4 (c.1604G>A; p.Gly535Asp) were identified in five individuals with brown discolorations and irregular pits and grooves of the teeth. Severe attritions, occlusal abfractions, and the radiological lack of contrast between enamel and dentin point out a mineralization defect. Histological dental investigations confirmed the clinical diagnosis of AI of the hypomaturation type. In two heterozygous individuals, a mild hypomaturation defect was present with white and light brown enamel discolorations. CONCLUSIONS: This is the first report of heterozygous SLC24A4 variants causing mild hypomaturation defects, providing confirmatory evidence that the function of SLC24A4 in calcium transport has a crucial role in the maturation stage of amelogenesis. CLINICAL RELEVANCE: The present report is expanding the clinical phenotype of SLC24A4 variants to more severe forms of amelogenesis imperfecta. An autosomal-dominant inheritance pattern with mild clinical phenotypes in heterozygotes has to be considered.


Asunto(s)
Amelogénesis Imperfecta , Amelogénesis , Antiportadores , Esmalte Dental , Humanos , Fenotipo
20.
J Clin Periodontol ; 47(1): 30-35, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31609489

RESUMEN

OBJECTIVE: To compare the cleansing efficacy of waist-shaped versus cylindric inter-dental brushes in patients receiving supportive periodontal therapy. MATERIALS AND METHODS: After sample size estimation, 20 periodontal maintenance patients diagnosed with periodontitis stage 3 were recruited. Brushing efficacy of waist-shaped and cylindric inter-dental brushes was evaluated in a randomized-controlled, examiner-blinded, two-period crossover study by assessment of the Turesky modification of Quigley-Hein plaque index (T-QHI) and the papillary bleeding index (PBI) at four sites per tooth. RESULTS: Seventeen probands with 1,474 tooth sites finished the study. At baseline, median of overall T-QHI scores was 1.4 (interquartile range 1.38-1.92). After 1 month, T-QHI for waist-shaped inter-dental brushes was 1.24 (1.03-1.52); in 15 individuals, T-QHI 0 was the grade most often measured. T-QHI for cylindric brushes was 1.71 (1.18-2.29; p = .042), with T-QHI 0 being the grade most often measured only in seven individuals. The odds ratio for establishing plaque-free inter-dental sites with waist-shaped relative to cylindric brushes was 1.8 [95% CI 1.6-1.9] (p < .001; logistic regression analysis). There were no statistically significant differences between PBI levels of waist-shaped and cylindric brushes. CONCLUSION: This study has demonstrated the superiority in cleansing efficacy of waist-shaped over cylindric inter-dental brushes in individuals receiving supportive periodontal treatment.


Asunto(s)
Placa Dental , Gingivitis , Cepillado Dental , Estudios Cruzados , Dispositivos para el Autocuidado Bucal , Índice de Placa Dental , Humanos , Método Simple Ciego
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