Peter Baptista

Obstructive Sleep Apnea Syndrome: From Phenotype to Genetic Basis

Obstructive sleep apnea syndrome (OSAS) is a complex chronic clinical syndrome, characterized by snoring, periodic apnea, hypoxemia during sleep, and daytime hypersomnolence. It affects 4-5% of the general population. Racial studies and chromosomal mapping, familial studies and twin studies have provided evidence for the possible link between the OSAS and genetic factors and also most of the risk factors involved in the pathogenesis of OSAS are largely genetically determined. A percentage of 35-40% of its variance can be attributed to genetic factors. It is likely that genetic factors associated with craniofacial structure, body fat distribution and neural control of the upper airway muscles interact to produce the OSAS phenotype. Although the role of specific genes that influence the development of OSAS has not yet been identified, current researches, especially in animal model, suggest that several genetic systems may be important. In this chapter, we will first define the OSAS phenotype, the pathogenesis and the risk factors involved in the OSAS that may be inherited, then, we will review the current progress in the genetics of OSAS and suggest a few future perspectives in the development of therapeutic agents for this complex disease entity.

Clinical Outcomes and Complications Associated with TORS for OSAHS: A Benchmark for Evaluating an Emerging Surgical Technology in a Targeted Application for Benign Disease

Background: The aim of this study was to create benchmarks for evaluating clinical outcomes and complications of transoral robotic surgeries (TORS) in a multicenter setting. Methods: 243 TORS for obstructive sleep apnea/hypopnea syndrome (OSAHS) operations, carried out between 2008 and 2012, were analyzed at 7 different centers. The average hospitalization was 3.5 days. The mean patient age was 50 ± 12 years, the average BMI at the time of the procedure was 28.53 ± 3.87 and the majority of the patients were men (81%). Results: The mean preoperative and postoperative apnea/hypopnea index was 43.0 ± 22.6 and 17.9 ± 18.4, respectively (p < 0.001). The mean preoperative and postoperative Epworth Sleepiness Scale score was 12.34 ± 5.19 and 5.7 ± 3.49, respectively (p < 0.001). The mean pre- and postoperative lowest O2 saturation was 79.5 ± 8.77 and 83.9 ± 6.38%, respectively (p < 0.001). Conclusions: Patients undergoing TORS as part of a multilevel approach for the treatment of OSAHS have a reasonable expectation of success with minimal long-term morbidity.

Sleep structure in patients with periodic limb movements and obstructive sleep apnea syndrome.

Abstract: Periodic limb movements (PLM) and obstructive sleep apnea syndrome (OSAS) are two frequent sleep disorders which often occur in the same patient. The goal of this study was to know the influence of the presence of PLM in the sleep architecture in patients with and without OSAS. Two hundred twenty consecutive patients (69 women and 151 men) participated in this transversal study. They were patients with clinical suspicion of dysomnia, including snoring, OSAS, and PLM. All of them underwent a full polysomnography and were interviewed using questionnaires about the sleep quality. The sleep parameters (percentage of sleep stages, rapid eye movement latency, sleep efficiency, awakenings, PLM presence, apnea-hypopnea index) were calculated and compared between groups. Descriptive statistics and nonparametric distribution techniques were used for the analysis. Patients with PLM when compared with patients with OSAS had lower sleep efficiency and less rapid eye movement percentage. The presence of PLM in patients with sleep apnea was less relevant being responsible only for an increase in the rapid eye movement latency and a decrease in the duration of the three to four sleep stages. However, the presence of OSAS was related to a better sleep efficiency (patients with PLM plus OSAS had a better sleep efficiency than patients with only PLM). PLM alters the structure of sleep. In patients with sleep apnea, the presence of PLM is less relevant.

The potential role of hyaluronan in minimizing symptoms and preventing exacerbations of chronic rhinosinusitis.

Background This study was designed to prospectively evaluate the role of nebulized hyaluronic acid (HA) given for 10 days/mo over 3 months as adjunct treatment to minimize symptoms and preventing exacerbation of chronic rhinosinusitis (CRS). Methods Thirty-nine eligible patients were randomized to receive nebulized 9-mg sodium hyaluronate nasal washes plus saline solution (21 patients) or 5 mL of saline alone (18 patients), according to an open-label, parallel-group design, with blind observer assessment. A questionnaire about main CRS discomfort and nasal endoscopy for mucous discharge and/or mucosal edema of nasal cavities was used to assess primary outcomes of treatments. Secondary outcome measures included side effects and satisfaction. Results HA significantly improved quality of life in CRS patients according to the CRS questionnaire (16± 3.72 versus 11.52 ± 4.28; p < 0.001), contrary to saline group scores (18.92 ± 3.09 versus 18.21 ± 3.21; p = 0.55). The HA group showed significantly reduced osteomeatal edema (2.42 versus 1.52; p < 0.001) and secretions (0.95 versus 0.42; p < 0.001), whereas there was no statistically significant difference in the saline group he compliance to the treatment was similar in both groups and no side effects were recorded. Conclusion The results of this study suggested that intermittent treatment with topical 9-mg sodium hyaluronate plays a role in minimizing symptoms and could prevent exacerbations of CRS.

Radioguided surgical strategy in mucosal melanoma of the nasal cavity.

Sinonasal mucosal melanoma (MM), although very rare (<1% of the all MM), is second only to squamous cell carcinoma among cancers of the nasal region and still represents a challenging problem in head and neck cancer. A 60-year-old woman had nasal MM stage I, which was treated with concomitant probe-guided tumor excision and an elective neck dissection after sentinel lymph node biopsy. The radioactivity status of the tumor and lymph nodes were compared with the histopathologic specimen. Surgical margins, sentinel lymph node, and lymphadenectomy were free of tumor. The patient was seen in frequent and regular follow-up and was free of disease without any other treatment (radiotherapy, immunotherapy, or chemotherapy). Radioguided surgery is an easy and reproducible surgical technique that could increase the likelihood of adequate excision and minimize the development of nodal disease by performing a “guided” neck dissection after the sentinel lymph node biopsy. A multidisciplinary approach and further studies with a longer follow-up are needed to substantiate the accuracy and safety of this strategy in the treatment of an aggressive neoplasm like MM of the head and neck, which still has a very poor prognosis.

The potential role of hyaluronic acid in postoperative radiofrequency surgery for chronic inferior turbinate hypertrophy.

Background We prospectively evaluated the efficacy of hyaluronic acid (HA) as an adjuvant treatment to hasten the improvement of nasal respiration and to minimize patients’ discomfort in the postoperative radiofrequency volumetric tissue reduction (RFVTR) of inferior turbinates. Methods We enrolled 57 patients randomly assigned into two groups, HA (22 patients) and saline group (35 patients), which received isotonic saline nasal irrigation. We used the monopolar device somnoplasty for all patients. Visual analogic scale (VAS) and nasal endoscopy were used to assess the outcomes of the treatments during the 1st month of follow-up. Results The mean VAS score of the HA group at the 1st week was significantly lower than the control group (3.36 ± 1.89 versus 6.95 ± 1.52; p < 0.05). The VAS score remained significantly lower in the HA group also at the 2nd week (3.43 ± 1.27 versus 5.75 ± 1.39; p < 0.05), becoming similar to the control group at the 4th week (p = ns). Since the first visit the HA group also showed significantly lower crust score than the saline group (p < 0.05), and there was no crust found in either group at the last visit. The compliance to treatment was similar in both groups. Conclusion The results of this prospective study suggest a role of HA as a supportive treatment for faster improvement of nasal respiration, also minimizing patients’ discomfort in postoperative nasal surgery, promoting nasal mucosa healing in postoperative RFVTR for inferior turbinate hypertrophy.

Hyaluronic Acid: Perspectives in Upper Aero-Digestive Tract. A Systematic Review

Background To date, topical therapies guarantee a better delivery of high concentrations of pharmacologic agents to the mucosa of the upper aerodigestive tract (UADT). The use of topical drugs, which are able to reduce mucosal inflammation and to improve healing tissues, can represent a relevant therapeutic advance. Topical sodium hyaluronate (SH) has recently been recognized as adjuvant treatment in the chronic inflammatory disease of the UADT. Aims The aim of our work was to review the published literature regarding all the potential therapeutic effects of SH in the chronic inflammatory disease of UADT. Methods Relevant published studies were searched in Pubmed, Google Scholar, Ovid using keywords (“sodium hyaluronate” and “upper airways”) or Medical Subject Headings. Results At the end of our selection process, sixteen publications have been included. Six of them in the post-operative period of nasal-sinus surgery, 2 of them in pediatric patients affected by recurrent upper respiratory tract infections, 4 of them in reducing symptoms and preventing exacerbations of chronic upper airways in adult population, 4 of them in patients with chronic inflammatory disease of UADT, including gastro-esophageal reflux disease (GERD). Conclusions Topical administration of SH plays a pivotkey role in the postoperative phase of patients undergoing FESS and nasal surgery, and positive results are generally observed in all the patients suffering from UADT chronic inflammatory disease.

Pharyngo-laryngoscopic video-recording in obstructive sleep apnea during natural N2 sleep. A case report of a non-complete obstructive mechanism

OBJECTIVES This is a video case report of a 58-year-old male patient with severe obstructive sleep apnea (OSA) who underwent a pharyngo-laryngoscopy during non-drug-induced sleep. METHODS The pharyngo-laryngoscopy was performed transnasally during a 30-minute nap, in the afternoon, with a flexible endoscope in supine position. During the procedure, the patient was monitored with polysomnography. RESULTS The patient slept for 20 minutes in supine position, reaching N2 sleep stage. During the sleep, 15 respiratory events (apneas or hypopneas) were recorded. The video-recording showed that, during apneas, the obstruction at the pharyngeal level was never complete, although the nasal sensor showed a total stop in the nasal airflow. CONCLUSIONS This case highlights that OSA could not be as obstructive as generally thought, at least during N2 sleep; moreover, it suggests that apneic episodes are not a totally passive and monomorphic phenomenon, but a rather complex event.

Acute upper airway obstruction caused by massive oedema of the tongue: unusual complication of sialoendoscopy.

OBJECTIVE To underline the importance of accurate clinical evaluation of major salivary gland obstructions, in order to choose the right surgical approach and to reduce the risk of complications. CASE REPORT We report a case of an unusual, previously unreported upper airway obstruction caused by massive swelling of the tongue following a successful sialoendoscopy, performed for treatment of submandibular sialolithiasis under general anaesthesia. CONCLUSIONS Sialoendoscopy has gained popularity and is an accepted method for diagnosis and treatment of most inflammatory conditions of the major salivary glands. It can be performed as an out-patient procedure under local anaesthesia, and is not usually associated with significant complications. However, in the presence of larger stones (>4 mm) of the submandibular gland, we suggest that interventional sialoendoscopy should be performed under general anaesthesia with optimal airway control, in order to manage the major risk of perforations and ductal lesions enabling spread of saline solution into the mouth tissues and causing life-threatening swelling of the floor of the mouth and tongue.

Sialoendoscopia:una nueva alternativa en el tratamiento de la patología salival. Nuestra experiencia.

Objetivos La sialoendoscopia es un procedimiento cuya finalidad es visualizar los conductos salivales y sus procesos patologicos. Se utiliza como metodo diagnostico, para descartar procesos inflamatorios de las glandulas (sialoendoscopia diagnostica) y para tratar areas patologicas (estenosis, retirar cuerpos extranos o calculos), mediante instrumental (sialoendoscopia intervencionista). Queremos mostrar la disminucion de extirpacion glandular. Pacientes y metodo Se estudia a 8 pacientes intervenidos con sialoendoscopia. Resultados En el 50 % se trataba de sialolitiasis y en el otro 50 %, de sialodenitis cronica. En las sialolitiasis la sialoendoscopia intervencionista permitio extraer el calculo en 2 (50 %) casos. En el resto la sialoendoscopia permitio confirmar el diagnostico en todos los casos. Conclusiones La sialoendoscopia es un nueva tecnica que nos permite diagnosticar, tratar y hacer un adecuado seguimiento de las sialodenitis, sialolitiasis y otras afecciones glandulares.