Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.

Genetic skeletal disorders are clinically and genetically heterogeneous group of disorders that affect the normal development, growth, and maintenance of the human skeleton. Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type (SMED-SL/AC; MIM# 271665) is a rare autosomal recessive genetic skeletal disorder characterized by distinctive facial features, disproportionate short stature, vertebral, metaphyseal, and epiphyseal abnormalities. This unique phenotype is caused by biallelic loss-of-function variants in Discoidin domain receptor 2 gene (DDR2, MIM# 191311). To date, only 10 pathogenic variants (six missense, two nonsense, one deletion, and one splice site) in DDR2 have been reported in patients with SMED-SL/AC. Dental anomalies related to skeletal dysplasia can include various abnormalities in the number, shape, and position of teeth in the jaw, as well as enamel hypoplasia and dentinogenesis imperfecta. Although abnormal dentition has previously been reported, orodental findings were described in only six patients with SMED-SL/AC. This study aimed to define the clinical, dental, radiological, and molecular findings of three new SMED-SL/AC patients from three unrelated families. Three DDR2 variants, two of which were novel, were detected with the aid of Sanger sequencing. Interestingly, one of the patients was diagnosed with Wilson's disease (WD) during the follow-up, a co-occurrence that has never been reported in patients with SMED-SL/AC so far.

Dental caries and associated salivary biomarkers in patients with cystic fibrosis.

PURPOSE: To evaluate the caries status of the Cystic fibrosis (CF) children and adolescents with the comparation of some biochemical markers, secretory-immunoglobulin-A (sIgA), and antimicrobial peptides in the saliva. METHODS: In this cross-sectional descriptive study, the approval Ethics Board was obtained. Unstimulated saliva samples were collected from CF and healthy control children (non-CF) patients. Both groups underwent the same dental and periodontal evaluation scheme of the assessment. Human beta defensin (HBD1), human alpha defensin (HNP-1), cathelicidin (LL-37), sIgA in saliva were evaluated by enzyme-linked immunoassay method. A general biochemical analysis was performed. Statistical analysis was performed by using Statistical Package for the Social Sciences Version 20.0 (SPSS Inc.). RESULTS: A total of 21 (9 male, 12 female) CF and 23 (11 male, 12 female) control patients were participated with the mean age of 10.17 ± 3.38 and 9.52 ± 2.15 years, respectively. In control children, DMFT/S (decayed-missing-filled-tooth/surface-in-permanent-dentition), dmft/s (decayed-missing-filled-tooth/surface-in-primary-dentition) values were higher; DT (decayed-tooth in permanent dentition), ft (filled-tooth in primary dentition) and plaque index values were statistically significantly higher (p = 0.042, p = 0.005, p = 0.038, respectively) than CF patients. Bicarbonate was higher in control group; sodium, chloride, and total protein were higher in CF group; magnesium, calcium and phosphate levels were similar in each group (p > 0.05). Alpha and beta defensin-1 levels in control group was statistically significantly higher (p = 0.037 and p = 0.020, respectively), while LL37 and sIgA were not statistically significantly higher (p > 0.05) than CF group. CONCLUSIONS: Children with CF had lower caries in permanent teeth, filling in primary teeth, and an altered salivary biomarker profile, especially in HNB1, HNP1. Therefore, it is important to conduct periodic oral-dental controls among CF patients during their childhood.

Oral Health Status among Children with Repaired Esophageal Atresia.

INTRODUCTION: Esophageal atresia (EA) is a congenital anomaly, presenting multifactorial etiology. Swallowing problems and gastroesophageal reflux disease may accompany EA, which have adverse effects on oral health. MATERIALS AND METHODS: In this descriptive study, intraoral examination of the children with repaired EA and of the dental patients without systemic/chronic disease was performed. Dental caries, dental erosion, and halitosis status were evaluated using the International Caries Detection and Evaluation System II, and the Basic Erosive Wear Examination indices as well as the Halimeter, respectively. RESULTS: There were 19 (n = 12 male; n = 7 female) case subjects and 16 (n = 10 male; n = 6 female) control subjects whose age ranged between 14 and 72 months. Among cases, 15 children had dental caries (78.9%; initial caries n = 4, moderate caries n = 4, and extensive caries n = 7). Of the controls, 13 had dental caries (81.2%; initial caries n = 5, moderate caries n = 5, and extensive caries n = 3). Although the median scores of decayed, missing, filled teeth (dmft) and decayed, missing, filled surfaces (dmfs)-for primary dentition-were not statistically significantly different between two groups, both dmft and dmfs were found to be higher among the case subjects (p = 0.172 for dmft; p = 0.230 for dmfs). Furthermore, six children with repaired EA had dental abnormalities (in shape, number, or calcification) and six children with repaired EA had dental erosion. The Halimeter measurement was performed for five case children of whom three had oral malodor, and for seven control children of whom two had oral malodor. CONCLUSION: Regular dental counseling adopting the multidisciplinary team approach for patients with EA is necessary to ensure better general and oral health.

Levels of pro- and anti-inflammatory cytokines in cystic fibrosis patients with or without gingivitis.

BACKGROUND: Inflammatory periodontal diseases are caused by interaction between gram negative, anaerobic bacteria and host response. Persistent infection of Pseudomonas aeruginosa in cystic fibrosis (CF) patients also cause increased pro-inflammatory response and the imbalance of pro- and anti-inflammatory response in brochoalveolar lavage fluid which leads to destruction of lungs. The aim of this study is to evaluate periodontal status of CF patients, to measure level of cytokines and biochemical molecules in gingival crevicular fluid (GCF), and to detect presence of P. aeruginosa in dental plaque samples. MATERIALS AND METHODS: GCF samples were collected from 41 CF patients and 39 healthy (non-CF) subjects. Interleukin (IL)-1ß, IL-17, IL-10, human neutrophil elastase (HNE), cystic fibrosis transmembrane regulator (CFTR) protein, and human ß-defensin-1 (HBD1) in GCF were evaluated by ELISA method. Dental plaque samples were collected from 18 CF patients with history of P. aeruginosa colonization and 15 non-CF subjects. Presence of P. aeruginosa was evaluated by using conventional culture methods and molecular methods. RESULTS: Levels of IL-1ß, HNE, and HBD1 in CF patients were significantly higher than non-CF subjects. However, IL-10 level was significantly lower in CF patients. Increased pro-inflammatory (IL-1ß) and decreased anti-inflammatory (IL-10) cytokine levels were observed in GCF samples from CF patients, irrespective of their periodontal status. P. aeruginosa were detected in four samples of 18 CF patients, and all were negative in non-CF group. CONCLUSIONS: As a result of this study, CF coexists increasing pro-inflammatory and decreasing anti-inflammatory response locally. Due to increasing pro-inflammation, CF patients should be followed-up more often than non-CF children.

Oral health status of children with mouth breathing due to adenotonsillar hypertrophy.

OBJECTIVES: Mouth breathing is an important health problem, commonly encountered in children. In children, adeno-tonsillar hypertrophy is the main reason causing partial or complete upper airway obstruction and reduction in airflow. This study aimed to determine the oral health status of children aged 3-15 years, with mouth breathing who were due to have surgery for adeno-tonsillar hypertrophy and referred to the Department of Otorhinolaryngology at Children's Hospital of a University in Ankara, Turkey between January-July 2015. METHODS: The approval of the Non-Interventional Clinical Researches Ethics Board of Hacettepe University and written informed consents from the parents were obtained. The parents completed a questionnaire before the surgery. The children were examined using dental mirror and explorer under dental unit lighting. Oral health status was evaluated with DMFT/S, dmft/s, ICDAS II, dental plaque and gingival indices. The chi-square test, Kruskal Wallis and Mann Whitney U tests were used to statistically analyse the results, with statistical significance p<0.05. RESULTS: Of the 170 children who had adenotonsillar hypertrophy with mouth breathing, 150 the parents agreed to participate the study. 77 of the children (51.3%) were male; the mean age was 5.9 ±â€¯2.6. Mean dmft was 3.8 ±â€¯3.6, dmfs 9.7 ±â€¯1.1, DMFT 0.4 ±â€¯1.0 and DMFS 0.6 ±â€¯1.5 respectively. Among the children, 101 (67.3%) had cavitated dental caries, and according to ICDAS II, none had healthy teeth, 15 (10.0%) had initial, 42 (28.0%) had moderate and 93 (62.0%) had advanced caries. Of the children, 89.3% had gingivitis and the proportion of gingivitis in posterior region was found to be significantly higher than anterior region (p < 0,001). CONCLUSIONS: The oral health status of mouth breathing in children with adeno-tonsillar hypertrophy was poor. To reduce the risk of dental caries and periodontal disease among these children, regular dental follow-up and preventive programmes for oral health are needed.

Healing of External Inflammatory Root Resorptions and Periapical Lesions without Surgical Treatment in an Operated Oblique Facial Cleft Case.

This paper describes an operated oblique facial cleft case with external inflammatory root resorption (EIRR) of the permanent maxillary left incisors and canine in a 12-year old patient. Due to the facial oblique cleft, the plastic surgery department operated on the patient five times and placed her on fixed orthodontic therapy. EIRR treatment of the maxillary left incisors and canine was performed using long-term calcium hydroxide therapy. The permanent root canal fillings of the lateral incisor and canine were performed using conventional gutta percha fillings. Because no sufficient apical barrier stop of the central incisor occurred, it was filled with Mineral Trioxide Aggregate (MTA); the canine crown fracture was restored using a carbon-covered fiberglass post and a light-cured composite resin. Examination after 42 months revealed good esthetics and no periapical pathology.

Oral and dental findings in children with Fanconi anemia.

PURPOSE: The purpose of this study was to investigate the oral and dental findings in children with Fanconi anemia (FA). METHODS: The study included 26 FA patients who came to the hospital (Hacettepe University Faculty of Medicine, Pediatric Hematology Unit) from the central region of Anatolia (17 [65%] mole, 9 [35%] female; mean age = 10.0 +/- 5.2 years (range = 2-18; median = 9 years]). Oral and radiological examinations and salivary collection were performed at the Department of Pediatric Dentistry of Hacettepe University Faculty of Dentistry. RESULTS: Among 26 FA children: (a) 16 (62%) had never visited a dentist; (b) 6 (23%) had visited a dentist once; and (c) 4 (15%) had visited a dentist regularly. Furthermore: (a) only 5 children (19%) brushed their teeth regularly; (b) 7 (27%) had never brushed their teeth previously; and (c) the other 14 (54%) had brushed their teeth rarely. The prevalence of dental caries was 35% in this study's patients. Gingival examination revealed that 9 (35%) children had gingivitis and the other 17 (65%) had normal gingival health status. Examination of the oral cavity revealed that: (a) 3 children (12%) had a coated tongue; and (b) 1 (4%) had papillary atrophy. No leukoplakia or other precancerous lesion was detected in this patient group. Salivary flow rate was less than 0.7 ml/minute in 56% of the patients. No patients had a salivary pH less than 5. Salivary buffering capacity of less than 5, however, was detected in 5 patients (33%). Radiological evaluation revealed that the most common congenital dental abnormalities were: (1) microdontia (44%); (2) congenitally missing teeth (26%); (3) transposition (9%); and (4) supernumerary teeth (4%). CONCLUSION: These results demonstrate that poor oral hygiene, dental decay, gingivitis, and congenital dental abnormalities--including generalized microdontia, supernumerary teeth, transposition, and congenitally missing teeth--are common oral and dental findings in this group of Turkish children with Fanconi anemia.