Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey.

Otorhinolaryngologic manifestations are common in 22q11.2 deletion syndrome (22q11.2DS), but poorly described. This study aimed to better define the ear-nose-throat (ENT) phenotype of 22q11.2DS patients, in the attempt to best detect subjects requiring subspecialist intervention. We enrolled 25 patients affected with 22q11.2DS. Anatomic and functional ENT findings were investigated using clinical, laboratory, and instrumental data. Immunophenotype and frequency of infections were evaluated. Univariate and multivariate analyses were performed. ENT anomalies were found in 88% of patients, and in 20% congenital palate defects required surgery. Adenoid or palatine tonsil hypertrophy was noted in 80% and 48%. Forty-eight percent of subjects had rhinolalia/phonia, severe in half of these. We also found nasal regurgitation or laryngeal penetration/aspiration in 20% and 16%, respectively. Instrumental exams revealed a mild conductive hearing loss in 32% (bilateral in most cases), tympanometric anomalies in 28%, and swallowing abnormalities in 16%. Statistical univariate analysis showed a direct association between rhinolalia/phonia and episodes of laryngeal aspiration (p = .016) and between tympanometric anomalies and increased adenoid volume (p = .044). No association between episodes of food aspiration and palatal anomalies was found. Moreover, no statistically significant association was observed between the number of airway infections and the ENT findings. This study contributes to better define the ENT phenotype in patients with 22q11.2DS, helpful to prevent potential complications. Furthermore, the identification of a subcategory of patients may allow the early adoption of specific speech therapy programs to improve the clinical outcome of 22q11.2DS patients.

Aerodynamic findings and Voice Handicap Index in Parkinson's disease.

OBJECTIVE: To verify possible relations between vocal disability and aerodynamic measures in selected Parkinson's disease (PD) patients with low/moderate-grade dysphonia. METHODS: Fifteen idiopathic dysphonic PD male patients were examined and compared with 15 euphonic subjects. Testing included the following measures: Voice Handicap Index (VHI), maximum phonation time (MPT), mean estimated subglottal pressure (MESGP), mean sound pressure level (MSPL), mean phonatory power (MPP), mean phonatory efficiency (MPE) and mean phonatory resistance (MPR). RESULTS: Statistical analysis showed: a significant reduction in MPR and MSPL in PD subjects compared to the healthy ones; a significant positive correlation between VHI score and MSPL, MPR, MPP, MESGP and a significant negative correlation between VHI and MTP within PD subjects. Test for multiple linear regression showed a significant correlation between VHI score, MPT, MPR and MSPL. CONCLUSIONS: A relationship between VHI and aerodynamic measures was shown in the present study. Compensatory mechanisms may aggravate vocal disability in PD subjects.

Aerodynamic Study of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome.

OBJECTIVES: We aim to verify velopharyngeal sphincter function in 22q11.2 deletion syndrome patients (22q11.2DS) to establish correlations between aerodynamic and perceptual measures of nasality, and to identify aerodynamic measures differentiating typical from atypical velopharyngeal behavior. METHODS: Eleven subjects with 22q11.2DS and twenty similar-age control subjects were recruited. The aerodynamic measures were mean Sound Pressure Level, air pressure peak, pressure wave duration, airflow pattern and nasal airflow during the sequence /pi/. The nasality perceptual measures were rhinolalia, rhinophony and nasal air escape. RESULTS: Airflow patterns and perceptual measures were statistically different in the two groups. Pressure wave duration and air pressure peak were lower in study subjects than in controls. Air pressure peak and nasal airflow were negatively correlated with rhinolalia; pressure wave duration was negatively correlated with nasal air escape and rhinolalia in 22q11.2DS patients. CONCLUSIONS: This aerodynamic study identified velopharyngeal qualitative and quantitative dysfunctions, suggesting heterogeneous models of velopharyngeal function in syndromic subjects as compared to controls.

Effects of guidelines on adeno-tonsillar surgery on the clinical behaviour of otorhinolaryngologists in Italy.

BACKGROUND: Several guidelines on adeno-tonsillar disease have been proposed in recent years and some discrepancies in relation both to clinical manifestations and indications for surgical treatment have emerged. The aim of the study was to verify what influence (adeno)-tonsillectomy guidelines have had on the clinical behaviour of ENT specialists in Italy. Our study is a retrospective and multi-centre case series with chart review. METHODS: The survey involved 14,770 children, aged between the ages of 2 and 11, who had undergone adeno-tonsillar surgery between 2002 and 2008 in fourteen Italian tertiary and secondary referral centres. Anova test was used for the statistical analysis, assuming p < 0.05 as the minimum statistical significance value. RESULTS: The frequency of adeno-tonsillar surgeries did not change significantly (p>0.05) during the study period and following the Italian policy document publication. Overall, adeno-tonsillectomy was the most frequent intervention (64.1%), followed by adenoidectomy (31.1%) and tonsillectomy (4.8%). The indications for surgery did not change significantly for each of the operations (p>0.05), with the exception of adeno-tonsillectomy in case of feverish episodes due to acute recurrent tonsillitis ≥ 5 without nasal obstruction (decreased p= 0.010) , even when the feverish episodes due to acute recurrent tonsillitis were < 5 over the last year. Nasal obstruction was associated with feverish episodes due to acute recurrent tonsillitis in 65.2% of operated cases, while otitis media had been diagnosed in 43.3% of the patients studied. CONCLUSIONS: The recommendations first developed in Italy in a 2003 policy document and then resumed in guidelines in 2008, were not implemented by ENT units involved in the survey. The study highlights the fact that the indications for adeno-tonsillar operations are based on the overall clinical presentation (comorbidity) rather than on a single symptom. Guidelines are necessary to give coherent recommendations based on both the findings obtained through randomized controlled trials and the data collected from observational studies.

Diagnosis and management of intralabyrinthine schwannoma: case series and review of the literature.

Intralabyrinthine schwannoma (ILS) is a rare benign tumor affecting cochlear and vestibular nerves, whose symptoms are generally unspecific and frequently responsible for a late diagnosis. Radiological examinations, with particular reference to magnetic resonance imaging (MRI), represent the only diagnostic technique to identify ILS. On computed tomography ILS can only be indirectly suspected by the presence of surrounding bone remodeling, whereas MRI provides direct visualization of the neoplasm as a filling defect within the labyrinth with vivid contrast enhancement. At the same time, MRI is also helpful in defining ILS anatomical extension into adjacent structures and in planning therapeutic management. Here we report three representative cases of ILS with new pictorial imaging features to improve ILS early detection and optimize subsequent therapeutic management.

Biological sealing aspects surrounding anterior crowns on dental implants: clinical and photographic cases report

The biological sealing (BS) around implants is a dominant factor to determine the long-term success of peri-implant health. There are several features of the BS around implants in common with the soft tissue attached to teeth, such as the presence of crevicular fluid, acquired pellicle, epithelium; otherwise, the quality of the BS around implants is weaker compared with the junctional epithelium of natural teeth. Then, this article aimed to describe three cases report showing the presence of a BS (cuticle-crevice fluid-acquired pellicle) around the fixed crowns on dental implants in the anterior zone, through photographic analysis. It was used a Nikon 8100 camera with a 105 mm macro lens and a Macro Ring circular flash. A photographic profile examination was made always showing the clinical case and, specifically, the focal point in the crown-gingival tissue (prosthesis boundary and peri-implant tissue), highlighting the anatomical gingiva on the ceramic prosthetic crown at an angle between 140 to 160 degrees. Although cases 1 and 2 had 1-year follow-up and case 3 around 4 years, the common findings for all treatments done were: (i) oral rehabilitation with crowns on dental implants; (ii) patients satisfied with the esthetic and functional result; (iii) stability of the soft tissue around the crowns; (iv) all the patients had a good oral hygiene; (v) presence of a thin membrane associated with the acquire pellicle, similar to an annular cuticle, which we named cuticle-acquired pellicle complex or tertiary cuticle or prosthetic-implant cuticle. This complex (cuticle-crevicular fluid-acquired pellicle) is suggested to be the responsible by the BS on dental implants. Moreover, the cuticle (epithelial part in the peri-implant sulcus), although similar to teeth, may be considered a tertiary pellicle due to be found on ceramic crowns on dental implants, differently of the primary and secondary pellicle. Whitin the limitation of these three cases reports, the BS was reported and can be introduced the new concept of the "cuticle-crevicular fluid-acquired pellicle complex" or "prosthetic-implant cuticle".

Evaluation of the occlusal contact area of molar dental implants comparing two different thicknesses (16 µm and 200 µm) of articulating occlusal papers and forces (200 and 250 N): a pivot in vitro study

Introduction: The goal of this pilot study was to evaluate the differences between checking occlusion on implants crowns using 16 or 200 µm thickness of articulating occlusal paper, and to compare the stained occlusal area between the groups after bite forces of 200 and 250 N. Methods: It was included 10 casts of articulated-type IV gypsum, 10 NiCr crowns, articulating occlusal papers (16 µm and 200 µm thick), and a compression test machine. Compressive forces (200 and 250 N.mm) were applied on models, to check the occlusal contact area of fixed and cemented crowns. The contact areas on the crowns were measured through images obtained by the scanning electron microscope. Statistical tests were performed considering the significant level of 5% (p≤0.05). Results: The stains found using 200 µm of articulating paper were higher than those with 16 µm, independent of the force applied. However, the stains obtained in lower teeth with different strengths (200 and 250N) marked with 16 µm articulating paper were not possible to score. The articulating paper variable had significant statistical results (p=0.002), while the variables force (p=0.443) and articulating paper-force interaction (p=0.607) were not significant. The mean area found in staining using the 200 µm and 16 µm papers was, respectively, 8.3380 mm2 and 3.4759 mm2. Conclusion: It was possible to confirm that 200 µm of articulating occlusal paper showed better and significant results to stain the occlusal area, permitting a more accurate adjustment independent of the force applied.

Relationship Between Clinical and Histologic Periodontal Biotypes in Humans.

Histologic and histomorphometric evaluations of gingival biopsy samples of patients presenting either a thick or a thin gingival biotype were performed. Full-thickness gingival biopsy samples were obtained and processed for histologic and histometric evaluations. Thickness of the keratinized mucosa or gingiva was found to be increased in the thick biotype. Specifically, the connective tissue layer was thicker with no change in epithelial thickness. In conclusion, gingival transparency appears to be an adequate, clinically useful method to classify the gingival biotype. The thin gingival biotype is manifested by reduced connective tissue thickness; therefore, biotype conversion or enhancement may be based on augmentation of the connective tissue portion of the gingival tissues.

Our experience in the treatment of Malignant Fibrous Hystiocytoma of the larynx: clinical diagnosis, therapeutic approach and review of literature.

Hereditary spherocytosis (HS) and Chronic myelocytic leukemia (CML) are both life threatening hemotologic diseases. They are rarely seen to occur simultaneously in one individual patient. Here we demonstrate a case of HS associated with CML in this study. The patient is a young female, diagnosed with HS in 2005, and was given partial embolization of the splenic artery. She got significant remission after the procedure. In 2008, she was found abnormal in blood routine test, after bone marrow routine, chromosome and fusion gene tests, she was diagnosed with CML (chronic phase). She did not receive regular treatment until 3 months prior, and is currently being treated with Dasatimib. She achieved hematological remission, but had no significant improvement in chromosome and fusion gene figures. Due to her severe condition of hemolysis, a splenectomy or an allogeneic hematopoietic stem cell transplantation is considered.

Medical liability, defensive medicine and professional insurance in otolaryngology.

BACKGROUND: This study aims at verifying relationships between the perception of medico-legal risks involved in the professional activity of Italian otolaryngologists, defensive medical behaviour and their understanding of professional liability insurance in matters of civil liability. One hundred specialists replied to a questionnaire pertaining to the psychological impact of medico-legal issues and to specific queries regarding insurance coverage, either privately stipulated or provided by the employer. Statistic analysis was carried out by χ(2) test and ANOVA multiple variance regression test, assuming P = 0.05 as the value of minimum statistical significance. RESULTS: It was found that in 50% of cases the behaviour of the doctor towards the patient had been decidedly influenced by concerns over medico-legal implications. In 29% of the sample these concerns had "often to always" influenced the choice of diagnostic procedures or treatment options, in order to safeguard themselves in case of legal dispute. The data obtained showed a statistically significant correlation between the level of concern (regarding potential medico-legal disputes) experienced by specialists on the one hand and variations in the doctor/patient relationship (P < 0.05) and the choice of defensive medical procedures (P < 0.05) on the other. Furthermore, the perception of the medico-legal problem was statistically related to the absence or poor knowledge of some insurance clauses, regarding posthumous coverage (72%), informed written consent (89%), and the coverage provided by the healthcare centre where the specialist is employed (32%) (P < 0.05). CONCLUSIONS: The results of this study indicate the necessity for a greater awareness of the actual guarantees provided by the insurance policy stipulated by specialists, to avoid inadequate coverage in the case of medico-legal disputes.

Cavernous hemangioma of rhinopharynx: our experience and review of literature.

Hemangiomas are benign tumors originating in the vascular tissues of skin, mucosa, muscles, glands, and bones. Although these tumors are common lesions of the head and neck, they rarely occur in the nasal cavity and paranasal sinuses. Cavernous haemangioma of the lateral wall of the nasopharynx has not previously been reported. We examined the clinical, radiological and therapeutic management of cavernous haemangioma of nasopharynx starting from a clinical case of a 26-year-old woman with a history of recurrent and conspicuous epistaxis and left-sided nasal associated severe obstruction. Nasopharynx examination, by flexible endoscopy, showed a cystic mass borne by the left side wall of the nasopharynx, in contact with the soft palate, covered by intact and regular mucosa. Contrast-enhanced computed tomography (CT) scan, confirmed these findings and showed contextual lamellar calcifications and inhomogeneous enhancement. The nasal endoscopic approach (FESS), under general anesthesia, allowed removal of the mass, without complications, after careful hemostasis of arterial branches. It was possible to establish the precise site of origin of the tumor only during the surgical procedure. Histopathological study showed mucosa with extensive vascular proliferation, with framework of lacunar/cavernous haemangioma, also present at lamellar bone tissue level. An unusual site and an unspecific clinical appearance can make diagnosis and treatment of a cavernous hemangioma of the nasopharynx difficult. The nasal endoscopic technique proved to be reliable in terms of adequate exposure and visualization of the lesion, control of bleeding, and complete removal of the mass.

Connexin 26 mutations in nonsyndromic autosomal recessive hearing loss: speech and hearing rehabilitation.

OBJECTIVE: Hearing loss is the most common form of sensory impairment, with approximately one infant/1000 born with profound congenital deafness. A pre-lingual bilateral sensorineural hearing impairment poses a substantial problem as it negatively impacts on the subject's ability to conduct a normal social life. The aim of the study was to observe, in a group of children affected by pre-lingual non-syndromic autosomal recessive hearing impairment: (1) the role of the possible mutation of connexin 26 in the pathogenesis of the hearing loss; (2) the audiological and clinical aspects of the hearing impairment; (3) therapy to be adopted for the different patients. METHODS: The study was carried out on 39 patients, 16 males and 23 females, aged between six and 17 years (mean 12 years), affected by non syndromic congenital deafness, presumably hereditary, referred to the out-patients audiology clinic for children of the Department of Otolaryngology of the Federico II University of Naples. RESULTS: Our study conducted on 39 children with pre-lingual bilateral sensorineural autosomal recessive deafness showed as follows: (I) from a molecular perspective: an incidence of 41% in the cases studied of mutations in the encoding of the connexin 26 gene; a prevalence in our case study of the 35delG mutation (69%). (II) The characteristics of the hearing impairments in the children studied were homogeneous, regardless of the presence or absence of a connexin 26 mutation: the hearing impairment was pre-lingual bilateral sensorineural, the impairment often involved mainly the high frequencies, but, especially in the severe forms an involvement of all the frequencies was not rare; the hearing impairments were symmetrical and non progressive in time. (III) The results of the application of prosthesis and thereafter rehabilitative language therapy are generally satisfactory but correlated of course to the severity of the hearing loss. CONCLUSION: In conclusion, we hope that further developments in the research on genetic hearing impairments will promptly result in advances in clinical practice.

CO(2)-laser treatment of laryngeal amyloidosis.

Four consecutive female patients (age: 14-47 years) with laryngeal amyloidosis, treated with endoscopic CO(2)-laser surgery, entered the study. All patients underwent periodic microlaryngoscopies following surgery to confirm the adequacy of the surgical resection. Recurrences or suspected lesions were resected and fibrin deposits were removed to prevent the formation of synechiae or healing adhesions. After two negative microlaryngoscopies, performed two months apart, the patients were followed-up approximately every six months over a period from six months to 18 years, with no evidence of recurrences. The endoscopic CO(2)-laser technique is highly effective in the treatment of localized laryngeal amyloidosis.

Surgical treatment of acute recurrent throat infections in children.

OBJECTIVE: The purpose of this study was to define the contribute of surgery and watchful waiting in the treatment of feverish episodes and other clinical manifestations related to acute recurrent throat infections in children. METHODS: An observational, retrospective and multi-centric study was carried out on 407 subjects, aged 2-11, with a minimum two-year follow-up. Chi square test and Fisher's test were used for the statistical analysis. RESULTS: Watchful waiting prevented, similarly to surgery, recurrences of feverish episodes, but did not favourably impact on other clinical manifestations (respiratory obstruction, otitis media, group A beta hemolyticus streptococcus positive laboratory findings) as compared to surgery (p<0.001). CONCLUSIONS: The higher effectiveness of surgical treatment, as compared to watchful waiting, was documented in the study patients, considering all the clinical manifestations related to acute recurrent throat infections.

Avaliação clínica da sobrevida de três sistemas de implantes em diferentes densidades ósseas: um estudo retrospectivo de 707 implantes em 194 pacientes / Clinical evaluation of three different dental implant systems in varied bone densities: a retrospective study of 707 implants and 194 patients

Objetivo: avaliar, através de um estudo retrospectivo, a sobrevida clínica de três sistemas de implantes em diferentes densidades ósseas. Material e métodos: dois sistemas de implantes nacionais titânio c.p. grau 2 e um sistema internacional titânio c.p. grau 3 foram utilizados conforme as recomendações dos fabricantes. Esses implantes serviram como suporte para pró teses unitá ria, parcial fixa, total fixa e removível em variados sí tios da cavidade oral. Os sí tios foram classificados de acordo com a densidade óssea. As análises uni e multivariada com regressão logística foram usadas para verificar a influência do sexo, idade, localização anatômica e tipo de implante na taxa de sobrevivência (nível de significância 5%). Resultados: 707 implantes de titânio puro com diferentes macrogeometrias e tratamento de superfície foram inseridos em 194 pacientes. Dos implantes instalados, o índice geral de sobrevivência foi 94,5%. A taxa de sobrevivência foi maior no sexo masculino do que no feminino (96,5% x 93,3%). O valor OR para o sexo feminino fi cou entre 1,96 (univariada) e 2,35 (multivariada). Conclusão: dentro dos limites deste estudo, a idade maior ou igual a 40 anos, o sexo feminino, o uso de implantes cilíndricos de titânio c.p. grau 2 com superfície tratada por ácido e jateada com óxido de alumínio, e a densidade óssea D4 que não seja na região mandibular apresentam-se como fatores de resultados estatisticamente significativos.

Objective: to perform a retrospective evaluation on the clinical survival of three implant systems placed at different bone densities. Material and methods: two grade 2 c.p. titanium national systems and one grade 3 c.p. titanium international system were used according the manufacture's recommendations. These were restored with single-tooth, partial fixed/removable prostheses in several oral cavity sites classified according to their bone densities. Uni- and multivariate logistic regression analysis were used to calculate the influence of gender, age, anatomic location, and implant type on the survival rates (5% level of significance). Results: 707 dental implants with different macrogeometries and surface treatments were inserted in 194 patients. The overall survival rate was 94.5%. The survival was higher for male and females (96.5% versus 93.3%). The Odds ratio for female gender was 1.96 (univariate) and 2.35 (multivariate). Conclusion: within the limits of this study, age ≥ 40 years, female, cylindrical shaped Grade 2 c.p titanium, acid-etched and aluminum oxide blasted, and the D4 bone density (except for the mandibular arch) can be considered factors with signifi cant influence on the survival results.

CO(2) laser surgery in the treatment of glottic cancer.

BACKGROUND: The aim of the study was to assess the effectiveness of CO(2) laser endoscopic surgery in the treatment of glottic carcinoma limited to the true vocal cords or involving the adjacent regions. METHODS: Seven hundred nineteen patients (687 men and 32 women; mean age, 60.4 years; range, 33-86 years) with glottic carcinoma (432 T1N0M0, 236 T2N0M0, 51 T3N0M0) underwent CO(2) laser surgery (mean follow-up, 5 years; range, 2-17 years). Statistical comparison was carried out with Wilcoxon test, considering p < .05 the minimum significance value. RESULTS: Overall actuarial survival, adjusted actuarial survival, and percentage of patients with no evidence of disease at 5 years were 85%, 97%, and 85%, respectively, in patients with T1a disease; 84%, 96%, and 83% in those with T1b disease; 77%, 86%, and 61% in those with T2 unilateral tumors; 77%, 88%, and 55% in those with T2 bilateral tumors; and 64%, 72%, and 60% in those with T3 disease. The statistical analysis showed the following: significant differences in the comparison of T1 versus T2 and T2 versus T3 tumors (p < .01), with the exception of no evidence of disease in the comparison of T2 versus T3 (p > .05); and no significant differences in the comparison of unilateral and bilateral tumors (p > .05). Actuarial local control, actuarial nodal control, and actuarial distant metastasis control at 5 years were 85%, 98%, and 99%, respectively, in patients with T1 disease; and 66%, 82%, and 91% in patients with T2 disease; and 66%, 83%, and 95% in patients with T3 disease. The laryngeal preservation rate was 97.3% in the T1 group, 82.5% in the T2 group, and 80.5% in T3 group. CONCLUSIONS: CO(2) laser endoscopic surgery is effective in the treatment of glottic carcinoma not infiltrating the cartilaginous skeleton; the results achieved are competitive with those of open conservative operations, if we take into account the possibilities afforded by salvage surgery and the rate of laryngeal preservation achieved in the study patients.

Osteonecrose induzida pelo uso de bisfosfonatos após instalação de implantes dentários – relato de dois casos / Bisphosphonate-associated osteonecrosis of the jaw following dental implant placement – a report of two cases

A osteonecrose dos maxilares é uma das principais complicações relacionadas ao uso de medicamentos antirreabsortivos. Este artigo teve como objetivo relatar dois casos clínicos nos quais as pacientes desenvolveram osteonecrose dos maxilares induzida por bisfosfonatos, após instalação de implantes dentários. Em ambos os casos, as pacientes não relataram uso de bisfosfonatos. No primeiro caso, a região afetada foi a maxila, tendo sido utilizado o tratamento para infecção durante muitos meses até que, após remoção de sequestro ósseo, obteve-se o diagnóstico da patologia. O tratamento conservador com laser de baixa potência e antibioticoterapia obteve sucesso. No segundo caso, a paciente apresentou sequestro ósseo na região dos implantes dentários após realizar clareamento de um dente vizinho à região. O tratamento conservador não foi bem-sucedido, e a cirurgia para ressecção em bloco foi necessária. Nas duas situações, as pacientes só revelaram ter feito uso de medicação antirreabsortiva após serem questionadas diretamente, quando apresentaram sequestro ósseo. Uma anamnese dirigida e medidas para prevenção da complicação devem ser tomadas em pacientes que fazem ou fi zeram uso deste tipo de droga.

The osteonecrosis of the jaws is the main complication related to the use of anti-resorptive drugs. This article aims to report two clinical cases where the patients developed bisphosphonate-associated osteonecrosis of the jaw following dental implant installation. In both cases, both patients did not report use of bisphosphonates. In the first case, the affected region was the maxilla and it was treated as an infection for several months, until removal of bone sequestration, with the pathology diagnosed. The conservative treatment with low intensity laser and antibiotic therapy achieved success. In the second case, the patient presented bone sequestration around dental implants after performing internal tooth whitening in the neighboring region. The conservative treatment was not successful and surgery for bone resection was necessary. In both cases, the patients revealed to have used anti-resorptive drugs only after being directly questioned when bone sequestration was observed. A directed medical history and preventive measures should be taken with patients that use or have used this medication.