Exfoliative cytology and genetic analysis for a non-invasive approach to the diagnosis of white sponge nevus. Case series

Background: White Sponge Nevus (WSN) is a rare benign disorder associated with mutations in genes coding for cytokeratin 4 (KRT4) and 13 (KRT13) characterized by dyskeratotic hyperplasia of mucous membranes. This study was aimed at examining different approaches (cytology, pathology and genetic analysis) to WSN diagnosis. Methods: A series of four patients with asymptomatic white diffuse oral lesions were evaluated and, before performing an incisional biopsy for pathology, an oral brush Thin Prep was collected for exfoliative liquid-based cytology (LBC). DNA for genetic analysis was also obtained from patients and both their parents, using buccal swabs. Results: Pathology and cytology showed similar results, leading to the same diagnosis of hyperkeratotic epithelium with acanthosis and spongiosis, without atypia, demonstrating the efficiency of LBC for the differential diagnosis. Sequencing analysis revealed at least 6 rare variants in the KRT4 and KRT13 genes in each patient, contributed in part by both unaffected parents. Conclusions: Thin Prep for oral exfoliative cytology and genetic analysis are sufficient for an accurate diagnosis of WSN. The combination of cytological and genetic analyses could substitute the histologic exam, providing a non-invasive alternative for incisional biopsy

Actinomyces infection after permanent fillers lip augmentation: Diagnosis and treatment

Background: Although dermal filler injections are a widespread and secure practice, early or late complications may nonetheless occur. Objective: In this paper, the authors report an unusual asymptomatic late filler infection caused by Actinomycetes in a patient having received liquid silicone and acrylate filler injections for lip enhancement, seeking treatment for upper lip macrocheilia. Methods: The case report is about a patient who complained of recurrent lip region edema and denied any infective episodes. Preoperative analysis was in the normal range. Sonographic exam showed two fillers in the upper lip, suggestive of silicone and polyacrylamide gel. A conservative macrocheilia reduction was performed; healing was uneventful. Results: Histology report confirmed the preoperative sonographic diagnosis, together with an actinomycetes infection, clinically unsuspected. Many microorganisms have been reported to cause abscesses or granuloma after dermal filler treatments, sterile abscesses were reported as well, suggesting a biofilm infection as causative granuloma origin. Conclusion: This study differs from previous filler complication reports because of the occasional finding of a silent actinomyces infection, a commensal of the oral cavity but responsible for suppurative diseases in the soft tissues. This occasional finding seems to support the biofilm origin of dermal filler granuloma

Skeletal, dental and profilometric effects of Sabbagh Universal Spring 2 (SUS2) in a patient at the end of growth: a case report

Introduction: Malocclusions, which present a severe skeletal component, are difficult to solve through orthodontic treatment inpatients at the end of growth and often require a combined orthodontic-surgical treatment. The mandibular propulsion appliances "no compliance" now offer new possibilities for functional orthopedic treatment in borderline cases. Case presentation: A patient at the end of growth with a severe malocclusion (Class II Division 1), open bite with arches\u27 transversaldiscrepancy, refused the hypothesis of an orthodontic-surgical treatment, which represents the gold standard in such occlusal andskeletal problems, especially in subjects at the end of growth; consequently, a complex orthopedic-orthodontic treatment was chosen as the second choice. The patient has been successfully treated also through the use of SUS2 (Sabbagh Universal Spring 2; Dentaurum, Ispringen, Germany), a "no compliance" fixed functional appliance, which carried out a significant sagittal correction. Conclusion: The case report especially highlights the important sagittal correction obtained through the use of SUS2. The SUS2 had a functional outcome, which resulted in the maxillary growth stop and an effective sagittal mandibular growth increase. The SUS2effects, enhanced by elastics biomechanics, led to the bite closure and at the achievement of Class I occlusion

The role of masseter muscle EMG during DISE to predict the effectiveness of MAD: preliminary results

È noto che lapplicazione dellapparecchio per lavanzamento mandibolare (MAD) aumenta lattività del complesso muscolare temporomandibolare (TM) e del muscolo massetere (MM) con il rischio di ridurre laderenza al trattamento. Alcuni parametri clinici riconosciuti predittivi dellefficacia del MAD sono già utilizzati per la selezione dei casi e tra questi lavanzamento mandibolare (MA) simulato durante la sleep endoscopy è quello principale. Presentiamo qui i risultati della registrazione EMG del muscolo massetere in tre casi di pazienti normopeso affetti da OSAS non-severa (AHI < 30) sottoposti alla MA durante la sleep endoscopy e poi trattati con MAD. La poligrafia dinamica di controllo a distanza, documentava una significativa riduzione dellAHI. I due casi che avevano mostrato un incremento transitorio dellattività del MM durante la MA non riferivano effetti collaterali, laltro, che aveva dimostrato un incremento persistente del segnale, riferiva al follow-up un discomfort in regione TM senza alterazioni dellocclusione. LEMG del massetere potrebbe contribuire a migliorare la selezione dei casi suscettibili di trattamento con MAD

Effectiveness of Direct Bite Raiser Onlays in Patients Affected By Temporomandibular Disorders: A Retrospective Observational Study

This retrospective observational study aims to assess the effectiveness of direct bite raiser onlays (DBRO) on pain and dysfunctional symptoms in patients affected by pain-related temporomandibular disorders (TMD). Furthermore, it wants to provide descriptive information about the clinical performance of the treatment. We screened the electronic medical records of male and female patients with a diagnosis of pain-related temporomandibular disorders treated with DBRO. A data collection was performed from patients routinely gathered clinical records. A final sample of 43 patients was included in the analysis. At the beginning of treatment all patients (100%) referred having pain and 12 patients (27.9%) complained about both pain and functional limitation. At the end of the treatment, 36 patients (83.7%) were symptom-free. In 5 subjects (11.6%), pain was still present but reduced in intensity. In 2 subjects (16.6%) functional limitations were improved but not completely resolved. During the treatment that lasted on average 8 months a mean of 7 checks have been carried out; the occlusal changes made on the DBRO had been on average 3. In 23 patients (53.5%) initial discomfort occurred after the beginning of treatment. The first beneficial effect was obtained on average on the fifth week of therapy. The results of this retrospective observational study should be treated cautiously because of the limitations of the study design but suggest that patients with a diagnosis of pain-related temporomandibular disorders who are treated with direct bite raiser onlays experience a reduction in pain and dysfunctional symptoms

ACTA OTORHINOLARYNGOLOGICA ITALICA

Il rapporto fra abitudini viziate, respirazione orale e malocclusione è fondamentale in tema di prevenzione e trattamento precoce dei disturbi della crescita cranio-facciale. Infatti così come le abitudini viziate possono interferire negativamente con la posizione dei denti e con il normale pattern di crescita scheletrica cranio-facciale, così lostruzione delle vie aeree superiori, con conseguente respirazione orale, cambia il modello di crescita craniofacciale con sviluppo di malocclusioni da moderate a severe. Questo studio trasversale, effettuato su 3.017 bambini applicando il ROMA index, vuole verificare lesistenza di una correlazione significativa tra abitudini viziate/respirazione orale e malocclusione. Dai risultati emerge che allaumentare del grado dellindice aumenta anche la prevalenza di abitudini viziate e respirazione orale, significando che questi fattori sono associati alle malocclusioni più gravi. Inoltre abbiamo riscontrato unassociazione statisticamente significativa fra abitudini viziate e overjet e openbite aumentati, ma non con il morso inverso. Dal lavoro è emerso che la respirazione orale è strettamente correlata ad overjet aumentato, overjet inverso, morso crociato, openbite e displacement. Riteniamo quindi che abitudini viziate e respirazione orale, rientrando fra i fattori di rischio di malocclusione, vadano intercettati e corretti precocemente per prevenire lo sviluppo di malocclusioni o il peggioramento di quelle preesistenti

Motivation, Perception, and Behavior of the Adult Orthodontic Patient: A Survey Analysis

Purpose. The article is aimed at improving the understanding of the sociocultural profile of adult orthodontic patients and their expectations. In particular, it addresses three main aspects: the motivation and needs that underpin the decision to start orthodontic treatment, how it influences the patients’ daily life, and the different oral hygiene demands. Materials and Methods. An online survey was completed by 276 patients undergoing orthodontic treatment with different techniques. The questions asked concerned gender, age, type of appliance, any previous orthodontic treatments, type of any previous retainers, reasons for therapy, satisfaction, pain, problems in eating, daily number of teeth brushings and flossings before and during the treatment, perception of cost, sensation of visibility of the appliance, and if they would recommend orthodontic treatment. Results. A significant role within our sample is played by gender; 87.94% consisted of female patients out of which 72.57% wanted to improve their aesthetics, while only 54.84% of male patients cited the same reason. Invisible aligners were preferred by 67.70% of the patients due to them being considered the least painful, causing the fewest problems with eating, and the least visible. Metal braces were perceived as the less expensive treatment. Over a third of the patients (33.85%) had previously undergone orthodontic treatment, among them 54.05% wore a mobile retainer, 31.08% a fixed one, and 14.86% both. Daily tooth brushing and flossing increased during therapy with clear aligners by 48.94% and 126.39%, respectively. Conclusions. The greatest demand for orthodontic treatments comes from women, as they pay more attention to aesthetics, which makes the clear aligners the most common choice. The relapse after orthodontic treatment seems to cause a higher demand for retreatment, and oral hygiene habits significantly improve during orthodontic treatment, especially with the clear aligners

Ruolo della sleep endoscopy nella selezione dei pazienti affetti da sindrome delle apnee ostruttive durante il sonno di grado lieve moderato candidati a terapia ortodontica con dispositivo di avanzamento mandibolare

Il trattamento con dispositivi di avanzamento mandibolare (MAD) rappresenta un’efficace alternativa terapeutica per i pazienti affetti da roncopatia semplice, OSAS di grado lieve/moderato e in casi selezionati di OSAS grave con scarsa tollerabilità alla terapia ventilatoria con C-PAP. Pertanto è importante identificare dei criteri oggettivi per selezionare i pazienti che possono beneficiare del trattamento con i sistemi di avanzamento mandibolare (MAD). In letteratura sono stati descritti vari fattori predittivi sia antropometrici che polisonnografici, mentre esistono ancora controversie circa il ruolo della Sleep Endoscopy e della manovra di avanzamento mandibolare bimanuale durante lo stesso esame come fattori predittivi del successo terapeutico con MAD. In questo studio descriviamo la nostra esperienza nel management di pazienti affetti da OSAS lieve/moderata trattati con MAD e selezionati mediante “sleep endoscopy”. Abbiamo eseguito una valutazione prospettica longitudinale di una serie consecutiva di pazienti giunti alla nostra osservazione con diagnosi di OSAS lieve/moderata e sottoposti a sleependoscopy. Durante il sonno indotto farmacologicamente è stata eseguita una delicata manovra di avanzamento mandibolare con escursione inferiore ai 5 mm e abbiamo riscontrato che in 30 dei 65 pazienti (46,2%) lo spazio respiratorio non migliorava in modo significativo a livello dei siti di ostruzione osservati, mentre in 35 dei 65 pazienti (53,8%) si osservava un miglioramento significativo tale da poter indicare terapia con MAD. In 7 dei 35 pazienti venivano riscontrate condizioni che ostacolavano l’applicazione del MAD per cui 28 dei 35 pazienti sono stati sottoposti a terapia con MAD. Dopo 3 mesi di trattamento abbiamo documentato un miglioramento significativo dell’indice di Epworth medio [(7,35 ± 2,8 vs 4,1 ± 2,2 (p < 0.05)], dell’AHI medio [(21.4 ± 6 eventi per ora verso 8,85 ± 6,9 (p < 0.05) ] e dell’ODI medio [(18.6 ± 8 eventi per ora versus 7 ± 5.8 (p < 0.05)]. Abbiamo inoltre osservato che l’AHI migliorava di almeno il 50% rispetto al basale nel 71.4% dei pazienti selezionati mediante sleep endoscopy. In questo studio, la terapia con i dispositivi di avanzamento mandibolare è stata prescritta con successo sulla base non soltanto dell’indice di apnea/ipopnea, ma anche dei reperti della sleep endoscopy e della manovra di avanzamento mandibolare, ottenendo una visione diretta degli effetti della protrusione mandibolare sullo spazio respiratorio in corrispondenza dei siti di ostruzione, e ottenendo una buona ottimizzazione della selezione dei pazienti per il trattamento con MAD

Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype

Craniosynostosis are a heterogeneous group of genetic conditions characterized by the premature fusion of the skull bones. The most common forms of craniosynostosis are Crouzon, Apert and Pfeiffer syndromes. They differ from each other in various additional clinical manifestations, e.g., syndactyly is typical of Apert and rare in Pfeiffer syndrome. Their inheritance is autosomal dominant with incomplete penetrance and one of the main genes responsible for these syndromes is FGFR2, mapped on chromosome 10, encoding fibroblast growth factor receptor 2. We report an FGFR2 gene variant in a mother and daughter who present with different clinical features of Crouzon syndrome. The daughter is more severely affected than her mother, as also verified by a careful study of the face and oral cavity. The c.1032G&gt;A transition in exon 8, already reported as a synonymous p.Ala344 = variant in Crouzon patients, also activates a new donor splice site leading to the loss of 51 nucleotides and the in-frame removal of 17 amino acids. We observed lower FGFR2 transcriptional and translational levels in the daughter compared to the mother and healthy controls. A preliminary functional assay and a molecular modeling added further details to explain the discordant phenotype of the two patients

Predictors of long-term stability of maxillary dental arch dimensions in patients treated with a transpalatal arch followed by fixed appliances

Background: The aim of this retrospective study was to identify which dental and/or cephalometric variables were predictors of long-term maxillary dental arch stability in patients treated with a transpalatal arch (TPA) during the mixed dentition phase followed by full fixed appliances in the permanent dentition. Methods: Thirty-six patients, treated with TPA followed up by full fixed appliances, were divided into stable and relapse groups based on the long-term presence or not of relapse. Intercuspid, interpremolar and intermolar widths, arch length and perimeter, crowding, and upper incisor proclination were evaluated before treatment (T0), post-TPA treatment (T1), post-fixed appliance treatment (T2), and a minimum of 3 years after full fixed appliances’ removal (T3). A binary logistic regression was performed thereafter to evaluate the impact of the dental arch and cephalometric measurements at T1 and the changes between T0 and T1 as predictive variables for relapse at T3. Results: The proposed model explained 42.7 % of the variance in treatment stability and correctly classified 72.2 % of the sample. Of the seven predictive variables, only upper anterior crowding (p = 0.029) was statistically significant. For every millimeter of decreased crowding at T1 (after TPA treatment/before starting the fixed orthodontic treatment), there was an increase of 3.57 times in the odds of having stability. Conclusions: The best predictor of relapse was maxillary crowding before treatment. The odds of relapse increase by 3.6 times for every millimeter of crowding at baseline