Oral Health-Related Quality of Life in Italian Children and Adolescents Living with Bone Dysplasia: A Cross-Sectional Study.

Bone dysplasia (BD) refers to a group of rare disorders characterized by skeletal and dental anomalies which may negatively influence oral health-related quality of life (OHRQoL). The aim of this cross-sectional study was to assess the impact of BD on OHRQoL in Italian children and adolescents and to assess whether gender and age influence their OHRQoL. A total of 40 patients with BD and 40 age- and gender-matched controls (aged 8-14 years) were asked to complete the Oral Health Impact Profile-14 (OHIP-14), Child Oral Health Impact Profile (COHIP), and the short form of the Child Perceptions Questionnaire (SF-CPQ). Children with BD showed statistically significant lower overall scores of all the questionnaires than the controls (all p < 0.001), with the largest differences being detected in overall symptoms, functional well-being, and social well-being domains. While no statistically significant gender-related differences were observed, adolescents aged 11-14 years experienced worse perception in the emotional and social well-being SSF-CPQ domains (p = 0.042 and p = 0.045, respectively) and in the peer interaction COHIP domain (p = 0.011) compared to the younger age group. Based on these findings, children suffering from BD experience poorer OHRQoL than their healthy peers, suggesting that oral and dental issues may be of special importance for the socio-psychological well-being of these growing individuals.

Dentoskeletal features and growth pattern in Beckwith-Wiedemann spectrum: is surgical tongue reduction always necessary?

OBJECTIVES: The role of tongue reduction surgery (TRS) in preventing excessive mandibular growth and anterior open bite in children with Beckwith-Wiedemann Spectrum (BWSp) is still controversial. This cross-sectional study aimed at comparing craniofacial growth pattern in children affected by BWSp either treated or not treated with early TRS for severe macroglossia. Considering the invasive nature of such surgery, the present study could help in clarifying the need for TRS to reduce or prevent growth disturbances. MATERIALS AND METHODS: Orthopantomography and lateral skull x-ray images were taken either from surgically treated or non-surgically treated patients, aged 5 to 8 years, to compare dentoskeletal features and craniofacial growth by cephalometric analysis. Molecular testing results were collected from their medical records. RESULTS: Eighteen BWSp patients were consecutively recruited: 8 underwent TRS at 14.9 ± 2.2 months of age, while 10 did not. Anterior open bite and dental class III were more frequently observed in the surgically treated group, but none showed skeletal class III. No statistically significant differences were observed in growth pattern, but children treated with TRS showed a tendency towards both maxillary and mandibular prognathism with protruding lower lip. Growth pattern seemed to be not related to molecular subtypes. CONCLUSIONS: These preliminary data suggest that early TSR does not improve craniofacial growth pattern and dentoskeletal features in BWSp children. CLINICAL RELEVANCE: Reductive glossectomy may not be justified for preventing or avoiding oro-facial deformities in BWSp; therefore, early monitoring of maxillofacial development of each affected child has a great clinical significance.

Influence of Cleft Lip and Palate on Oral Health-Related Quality of Life in Northern Italy: Exploring Both the Children's and Caregivers' Perspectives.

The aim of this cross-sectional study was to examine whether parents/caregivers' perceptions of oral health-related quality of life (OHRQoL) differ from that of their cleft children, exploring the impact of demographic variables and cleft type on their agreement. Fifty-three primary and secondary schoolchildren, with non-syndromic orofacial cleft, and their parents answered the Child Oral Health Impact Profile (COHIP) questionnaire. Concordance between caregivers' and children's reports was low to moderate. Parents/caregivers had worse perceptions of OHRQoL compared to that of their children, peer interaction and functional well-being domains being statistically significantly different (p = 0.033 and p = 0.005, respectively). Cleft type, gender and parents' country of origin seemed to be potential contributing factors of disagreement. Parents overestimated the impact of unilateral (p = 0.047) and bilateral cleft lip and palate (p = 0.021) on OHRQoL, and they rated more poorly than their male children did. Italian parents were more concerned about the functional well-being of their children (p = 0.014), and foreign parents about peer interaction (p = 0.010) and school environment (p = 0.012) dimensions. These findings suggest that parental assessment of OHRQoL cannot replace that of school-aged children, but they are complementary as they cover different, but equally relevant perspectives.

Oral Health-Related Quality of Life among Children and Adolescents with Beckwith-Wiedemann Syndrome in Northern Italy.

Due to associated maxillofacial growth anomalies and the impairment of oral functions, macroglossia may negatively impact the oral health-related quality of life (OHRQoL) of people with Beckwith-Wiedemann syndrome (BWS). Therefore, the aim of this cross-sectional study was to determine the OHRQoL of Italian children and adolescents with BWS compared to healthy peers and to identify which symptoms related to macroglossia had the highest impact. A total of 48 patients with BWS and 48 age- and gender-matched controls completed the Italian version of OHIP-14 and a questionnaire on functional, oral and aesthetic outcomes. Parents of patients with BWS who had undergone tongue reduction surgery (TRS) answered additional questions related to surgery. The BWS group scored higher than controls on the total OHIP-14 and on the dimensions of oral function (p: 0.036) and psychosocial impact (p: 0.002), indicating a reduced OHRQoL. Neither gender nor age had an impact on OHRQoL. Scores were worse in children and adolescents treated with TRS, as most of them still had open bite malocclusion and speech difficulties. The OHRQoL of children and adolescents affected by BWS is worse than that of their healthy peers in spite of the surgical treatment of macroglossia.

Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians.

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by various (epi)genetic alterations affecting the expression of genes on chromosome 11p15. Cardinal features include abdominal wall defects, macroglossia, and cancer predisposition. Several (epi)genotype-phenotype associations were described so far, but specific studies on the evolution over time of maxillo-facial phenotype in the molecular subtypes still are scanty. The aim of this cross-sectional study was to associate maxillo-facial morphology and growth pattern with genoype in 25 Caucasian children with BWS and macroglossia. Twelve patients experienced a loss of metilation at imprinting center 2 (IC2-LoM), five had mosaic paternal uniparental isodisomy of chromosome 11 (UPD(11)pat), and eight were negative. A more marked tongue enlargement was detected in patients with IC2-LoM and negative genotype, while UPD(11)pat children showed mild macroglossia (p = 0.048). A cluster analysis did not demonstrate any specific relationship between (epi)genotype and maxillo-facial phenotype, but separated BWS patients based on their cephalometric characteristics. Children with IC2-LoM or negative genotype displayed hyperdivergence values > 30°, clockwise growth tendency, and skeletal class II into the same cluster. They had a negative prognostic score. These preliminary data suggest the need for developing individualized protocols for early monitoring of the craniofacial growth in such patients.

Detection of HPV in oral leukoplakia by brushing and biopsy: prospective study in an Italian cohort.

AIM: The aim of the present study was to evaluate the prevalence of HPV infection in oral leukoplakia, specifying the HPV genotypes eventually involved. We also compared the micro-biopsy and brushing HPV detecting efficacy. MATERIALS AND METHODS: Consecutive patients with a presumptive diagnosis of oral leukoplakia were enrolled. Demographical, behavioral data (smoking, alcohol) and lesion features were recorded. Each patient underwent a brushing procedure, performed with a cytobrush rubbed on the lesion, and then a biopsy was performed. The brushing and micro-biopsy specimens were both analyzed with the HPV 28 Anyplex II Seegene RT-PCR. The prevalence of HPV infection was calculated considering the two methods' outcomes separately and then combining both. Cohen's k coefficient was used to assess the agreement between the two methods. RESULTS: Sixty-five patients were enrolled with a mean age of 60 years. The HPV infection prevalence was 17%, decreasing to 5% considering the brushing outcomes alone. The most frequently detected genotypes were 6 (12%), 11 (3%), 42 (3%), and 16 (3%). No statistically significant correlation was found between HPV infection and the variables analyzed, except for smoking and the type of mucosa (p < 0.05). The strength of agreement between cytobrush and micro-biopsy was "fair" (k = 0.384). CONCLUSIONS: The present study showed a low prevalence of HPV infection in oral leukoplakia. The micro-biopsy appeared to be more reliable than brushing in detecting HPV DNA in oral leukoplakia, but the method invasiveness discourages its employ as a screening tool. The importance of HPV in the etiopathogenesis of oral potentially malignant lesions remains unclear; further studies are needed to establish the HPV role in oral leukoplakia. CLINICAL RELEVANCE: HPV involvement in oral leukoplakia and an effective and appropriate detecting technique are still a debated issue. From this study, the restricted use of brushing did not appear sufficient to assess the presence of HPV infection with PCR techniques in samples obtained from oral leukoplakia.

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.

Oral lichen planus clinical characteristics in Italian patients: a retrospective analysis.

BACKGROUND: Oral lichen Planus (OLP) is a chronic inflammatory disease involving skin and mucous membranes. Its etiology is still uncertain whilst an autoimmune mechanism is known to be implicated. OLP is commonly considered a geriatric disease and gender differences in prevalence are clear, whereby females are generally more frequently affected than males more often during the 5th and 6th decades of life. Lesions are symmetrical and bilateral and the buccal mucosa is frequently involved. The risk of malignant transformation is extremely low. This study aims to describe both the clinical characteristics and the prevalence of OLP among a group of patients from Southern Italy. The results of the present study were compared to analogous retrospective studies. METHODS: Eighty-seven (31 man and 56 woman) cases of OLP were retrospectively reviewed and demographic and clinical data were collected. Data about OLP as clinical forms, oral and extraoral sites involved and Visual Analogue Scale were also recorded. RESULTS: The average age of OLP onset was 59.2 years. The most common clinical presentation was the hyperkeratosic type. Symptomatic OLP was noted in 26.8 % of the patiens. The most frequently affected oral sites were buccal mucosa, tongue, gums. The most frequently associated systemic diseases were diabetes, hypertension, C hepatitis and thyroiditis. Only one patient developed a malignant transformation (1.2 %). CONCLUSIONS: Previous retrospective studies report data partially comparable with our results. Different geographic area, number of enrolled patients and OLP classification criteria may justify the observed differences.

Relationship between CK19 expression, deregulation of normal keratinocyte differentiation pattern and high risk-human papilloma virus infection in oral and oropharyngeal squamous cell carcinoma.

BACKGROUND: Simple epithelial keratins appear early during embryonic development and are expressed in non-stratified, ductal and pseudo-stratified epithelial tissues. CK19, the lowest molecular weight keratin, is also expressed in basal layer of squamous epithelia of mucosal surfaces. Previous studies have shown that High Risk-Human Papilloma Virus (HR-HPV) epithelial infection induces cell immortalization via E6 and E7 viral proteins and this, in turn, impairs cytokeratin expression in cancerous cells lines derived from uterine cervix. Here, we demonstrate the possible relationship between HR-HPV(+) oral/oropharyngeal cancer and the high levels of CK19 expression. METHODS: We analyzed 38 cases of Oral Squamous Cell Carcinomas/ Oro-Pharyngeal Squamous Cell Carcinomas (OSCCs/OPSCCs) by Immunohistochemistry (IHC) using specific antibody (Ab) detecting CK19, by In Situ Hybridization (ISH) and Polymerase Chain Reaction (PCR) based methods in order to define the HPV infectious status. We also evaluated the variation of CK19 expression in UPCI-SCC-131 (HPV(-)) and UPCI-SCC-154 (HPV(+)) cell lines by immunocytochemistry (ICC) and flow cytometry. RESULTS: CK19 OSCC/OPSCC score has been identified multiplying percentage of cancer expressing cells to staining intensity. CK19 expression score in OSCCs/OPSCCs was very different between HPV(+) (mean: 288.0 ± 24.3) and HPV(-) cancers (mean: 66.2 ± 96.9). This difference was statistically significant (p < 0.001) with a strong evidence of correlation (p < 0.001; Spearman's R: +0.72). ROC curve analysis was performed on CK19 expression index related to HPV positivity. Heterogeneous areas of immunoreactivity varying in percentage value, intensity and/or localization were observed in normal epithelium, both perilesional and distant from the tumor with important differences between HR-HPV(+) and HR-HPV(-) carcinomas. By ICC and flow cytometry, the two analyzed cell lines were both CK19 positive but showed a different level of expression, in particular it should be noted that the UPCI-SCC-154 (HPV(+)) cell line had a higher expression than UPCI-SCC-131 (HPV(-)). CONCLUSIONS: In this study we demonstrated, for the first time, strong association between CK19 up-regulation and HR-HPV(+) OSCCs/OPSCCs. This test has a good accuracy. We identified ROC curve with a cut-off > 195 for HR-HPV positive results (Sensitivity: 92.3 %; Specificity: 89.3 %). Furthermore, in OSCC/OPSCC, the CK19 test may be useful in identifying HR-HPV infection, the latter being related to HPV E7 potential to disrupt normal cytokeratin expression pattern.