Search for a genetic cause in children with unilateral isolated microtia and congenital aural atresia.

PURPOSE: Microtia describes a spectrum of auricular malformations ranging from mild dysplasia to anotia. A vast majority of microtia patients demonstrate congenital aural atresia (CAA). Isolated microtia has a right ear predominance (58-61%) and is more common in the male sex. Isolated microtia is a multifactorial condition involving genetic and environmental causes. The aim of this study is to describe the phenotype of children with unilateral isolated microtia and CAA, and to search for a common genetic cause trough DNA analysis. METHODS: Phenotyping included a complete clinical examination. Description on the degree of auricular malformation (Weerda classification-Weerda 1988), assessment for hemifacial microsomia and age-appropriate audiometric testing were documented. Computerized tomography of the temporal bone with 3-D rendering provided a histopathological classification (HEAR classification-Declau et al. 1999). Genetic testing was carried out by single nucleotide polymorphism (SNP) microarray. RESULTS: Complete data are available for 44 children (50% was younger than 33 days at presentation; 59.1% boys; 72.7% right ear). Type III microtia was present in 28 patients. Type 2b CAA existed in 32 patients. All patients had a normal hearing at the non-affected side. Genome wide deletion duplication analysis using microarray did not reveal any pathological copy number variant (CNV) that could explain the phenotype. CONCLUSIONS: Type III microtia (peanut-shell type) in combination with a type 2b CAA was the most common phenotype, present in 23 of 44 (52.3%) patients with isolated unilateral microtia. No abnormalities could be found by copy number variant (CNV) analysis. Whole exome sequencing in a larger sample with a similar phenotype may represent a future diagnostic approach.

The EUFOREA pocket guide for chronic rhinosinusitis.

Chronic rhinosinusitis (CRS) is known to affect around 5 % of the total population, with major impact on the quality of life of those severely affected (1). Despite a substantial burden on individuals, society and health economies, CRS often remains underdiagnosed, under-estimated and under-treated (2). International guidelines like the European Position Paper on Rhinosinusitis and Nasal Polyps (EPOS) (3) and the International Consensus statement on Allergy and Rhinology: Rhinosinusitis 2021 (ICAR) (4) offer physicians insight into the recommended treatment options for CRS, with an overview of effective strategies and guidance of diagnosis and care throughout the disease journey of CRS.

Uvulopalatopharyngoplasty for nasal blockage 21 years after total rhinectomy.

BACKGROUND: Total rhinectomy is an invasive procedure that significantly impairs the intranasal turbulence, humidification and heating of inspired air. The use of uvulopalatopharyngoplasty for the treatment of sleep-disordered breathing disorders such as primary snoring and obstructive sleep apnoea has diminished over the past years because of the emergence of less invasive procedures and alternative therapeutic options. This clinical record presents the treatment of a long-term side effect of total rhinectomy using uvulopalatopharyngoplasty. CASE REPORT: In 1997, a 62-year-old male underwent total rhinectomy for a nasal schwannoma, followed by rehabilitation with a nasal prosthesis. Twenty-one years later, he presented with severe complaints of nasal blockage and breathing difficulties during both daytime and night-time. Clinical examination revealed no major anomalies besides significant velopharyngeal narrowing. Thus, in 2019, uvulopalatopharyngoplasty was performed to re-establish velopharyngeal patency. Hereafter, the symptoms of nasal blockage disappeared, resulting in an improved quality of life. CONCLUSION: Uvulopalatopharyngoplasty may prove useful to treat selected patients with daytime breathing difficulties due to velopharyngeal narrowing.

Effect of body weight on upper airway findings and treatment outcome in children with obstructive sleep apnea.

OBJECTIVE/BACKGROUND: Surgical interventions for obstructive sleep apnea (OSA) are less effective in obese than in normal-weight children. However, the mechanisms that underpin this relationship are not fully understood. Therefore, this study aimed to explore how body weight influences upper airway collapse and treatment outcome in children with OSA. METHODS: We conducted a retrospective analysis of prospectively collected data on polysomnography, drug-induced sleep endoscopy (DISE), and treatment outcome in otherwise healthy children with OSA. Associations between body mass index (BMI) z-score and upper airway collapse during DISE were assessed using logistic regression modelling. Treatment success was defined as obstructive apnea-hypopnea index (oAHI) < 5 events/hour and cure as oAHI < 2 events/hour with obstructive apnea index < 1 event/hour. RESULTS: A total of 139 children were included [median (Q1─Q3); age 4.5 (3.1─8.4) years; BMI z-score 0.3 (-0.8 to 1.4); oAHI 10.8 (6.8─18.0) events/hour]. Twenty-five of them were overweight and 21 were obese. After adjusting for age and history of upper airway surgery, BMI z-score was significantly correlated with circumferential upper airway collapse during DISE (odds ratio 1.67; 95% confidence interval 1.12─2.65; P = 0.011). Outcome of DISE-directed treatment was similar in normal-weight (success: 91.4%; cure: 78.5%), overweight (success: 88.0%; cure: 80.0%), and obese (success: 90.5%; cure: 76.5%) children. Children with circumferential collapse responded better to continuous positive airway pressure than to (adeno)tonsillectomy. CONCLUSION: Increasing body weight is associated with circumferential upper airway collapse during DISE and, accordingly, may require treatment strategies other than (adeno)tonsillectomy.

Sequential dual-site High-Definition transcranial Direct Current Stimulation (HD-tDCS) treatment in chronic subjective tinnitus: study protocol of a double-blind, randomized, placebo-controlled trial.

BACKGROUND: Chronic tinnitus is a highly prevalent symptom, with many patients reporting considerable effects of tinnitus on quality of life. No clear evidence-based treatment options are currently available. While counseling-based methods are valuable in some cases, they are not sufficiently effective for all tinnitus patients. Neuromodulation techniques such as high-definition transcranial direct current stimulation (HD-tDCS) are proposed to have positive effects on tinnitus severity but, to date, these effects have not been proven conclusively. The proposed trial will investigate the hypothesis that chronic tinnitus patients receiving HD-tDCS will report a positive effect on the impact of tinnitus on daily life, as compared to patients receiving sham stimulation. METHODS: This study proposes a randomized, double-blind, placebo-controlled trial with parallel group design. A total of 100 chronic tinnitus patients will be randomly allocated to an experimental group or a sham group, with allocation stratified according to gender and tinnitus severity. Patient and researcher will be blinded to the patient's allocation. Patients will undergo six sessions of sequential dual-site HD-tDCS of the left temporal area and the right dorsolateral prefrontal cortex. Evaluations will take place at baseline, immediately following treatment, and at three and six months after the start of the therapy. The primary outcome measure is the change in Tinnitus Functional Index (TFI) score. Secondary outcome measures include audiological measurements, cortical auditory evoked potentials, the Repeatable Battery for the Assessment of Neuropsychological Status adjusted for hearing-impaired individuals (RBANS-H), and supplementary questionnaires probing tinnitus severity and additional symptoms. By use of a linear regression model, the effects of HD-tDCS compared to sham stimulation will be assessed. DISCUSSION: The objective of this study is to evaluate whether HD-tDCS can reduce the impact of tinnitus on daily life in chronic tinnitus patients. To date, published trials on the effects of HD-tDCS on tinnitus suffer from a lack of standardization and few randomized controlled trials exist. The proposed study will be the first adequately powered trial to investigate the effects of sequential dual-site HD-tDCS on tinnitus severity. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03754127 . Registered on 22 November 2018.

Positional obstructive sleep apnea in children: prevalence and risk factors.

PURPOSE: Positional (supine dependent) obstructive sleep apnea (POSA) affects about 55% of adults with obstructive sleep apnea (OSA). We aimed to study the prevalence and risk factors for POSA in children. METHODS: Cross-sectional analysis of data obtained in 171 children with moderate to severe OSA confirmed by polysomnography (PSG) performed over a 2-year period. POSA is defined by an obstructive apnea-hypopnea index (oAHI) in the supine position ≥ 2× oAHI in the non-supine position. RESULTS: The overall prevalence of POSA was 18.7%. Children with POSA were significantly older (p < 0.001), had a higher prevalence of obesity (p = 0.04), a lower tonsil score (p = 0.049), and less severe OSA (lower oAHI) (p = 0.02) compared to children without POSA, while age was the only significant independent predictor of POSA. The ratio AHI supine to AHI non-supine was not significantly higher during REM than during NREM sleep in children with POSA. CONCLUSIONS: POSA is less common in children compared to adults and the prevalence of POSA increases with age. Although OSA worsens during REM sleep, this was not observed for POSA. Future studies should investigate the prevalence of POSA in specific subgroups and upper airway characteristics of POSA in children.

Patient Advisory Board for Chronic Rhinosinusitis - A EUFOREA initiative.

Despite the high prevalence of chronic rhinosinusitis (CRS) and its impact on patients' quality of life, no European patient organization that advocates for patients with CRS currently exists. To fill this gap and give a voice to CRS patients, EUFOREA has created a patient advisory board, whose goal is to better understand the real-life needs of patients, to raise awareness at political level and to involve patients in the development of novel integrated solutions to accelerate access to accurate diagnosis and treatments. This report summarizes the key discussion points from the kick-off meeting of the board on the 8th June 2018 and provides an outline of the key objectives for the future.

Treatment of sleep-disordered breathing with positional therapy: long-term results.

PURPOSE: The aim of the present study was to assess the efficacy of a sleep position trainer (SPT) in patients with an established diagnosis of positional obstructive sleep apnea and to evaluate the adherence after 1-year follow-up. METHODS: Polysomnography (PSG) was performed at baseline and after 1 year of SPT use. Patients received questionnaires to assess treatment satisfaction and subjective adherence. Data on objective adherence and number of vibrations initiated by the SPT were collected from the SPT device. RESULTS: Nine out of 58 patients stopped using the SPT during the first year of treatment (16%). Thirty-four middle-aged and overweight patients underwent a PSG after 1 year of SPT use (male/female ratio, 28/6; overall apnea/hypopnea index (AHI), 16/h). A significant reduction in overall AHI to 6/h was observed using treatment (p < 0.001). The median percentage of supine sleep decreased significantly to 1% with SPT (p < 0.001). The mean objective SPT use in 28 patients was 7.3 ± 0.9 h/night and 69 ± 26% of the nights. Furthermore, 75% of the patients reported a better sleep quality since the start of SPT treatment. CONCLUSIONS: Long-term treatment with the SPT was found to be effective in reducing overall AHI. Time spent sleeping in supine position was reduced to almost zero in the continuing users. Patient satisfaction was high when using the SPT.

Stepwise approach towards adoption of allergen immunotherapy for allergic rhinitis and asthma patients in daily practice in Belgium: a BelSACI-Abeforcal-EUFOREA statement.

Allergic rhinitis (AR) affects 23-30% of the European population with equal prevalence reported in Belgium. Despite guidelines on the correct use of effective treatment, up to 40% of AR patients remain uncontrolled. Allergen immunotherapy (AIT) has been shown to improve the level of control up to 84% of patients being controlled by AIT. Recently, new guidelines for AIT have been published, supporting the clinical evidence for effectiveness of various subcutaneous and sublingual products for AIT in patients who are allergic to airborne allergens. AIT in AR patients not only reduces nasal and/or ocular symptoms but also induces tolerance and has preventive potential. Adoption of AIT into daily clinical practice in Belgium and other European countries is hampered primarily by reimbursement issues of each of the single products but also by several patient- and physician-related factors. Patients need to be better informed about the effectiveness of AIT and the different routes of administration of AIT. Physicians dealing with AR patients should inform patients on tolerance-inducing effects of AIT and are in the need of a harmonized and practical guide that supports them in selecting eligible patients for AIT, in choosing evidence-based AIT products and in following treatment protocols with proven efficacy. Therefore, a stepwise and holistic approach is needed for better adoption of AIT in the real-life setting in Belgium.

mySinusitisCoach: patient empowerment in chronic rhinosinusitis using mobile technology.

Mobile health technology is emerging to take a prominent position in the management of chronic diseases. These technologies aim at enhancing patient empowerment via education and self-management. To date, of all the different apps available for patients with sinus disease, none were developed by medical experts dealing with chronic rhinosinusitis (CRS). The European Forum for Research and Education in Allergy and Airway diseases (EUFOREA) has undertaken a multi-stakeholder approach for designing, developing and implementing a tool to support CRS patients in monitoring their symptoms and to provide patients with a digital support platform containing reliable medical information about their disease and treatment options. mySinusitisCoach has been developed by medical experts dealing with CRS in close collaboration with patients, primary care physicians and community pharmacists, meeting the needs of both patients and health care providers. From a research perspective, the generation of real life data will help to validate clinical studies, patient stratification and improve understanding of the socio-economic impact of CRS, thereby paving the way for better treatment strategies.

Changes in Swallowing-related Quality of Life After Endoscopic Treatment For Zenker's Diverticulum Using SWAL-QOL Questionnaire.

Dysphagia affects the most cardinal of human functions: the ability to eat and drink. The aim of this prospective study was to evaluate swallowing dysfunction in patients diagnosed with Zenker's diverticulum using the Swallowing Quality of Life (SWAL-QOL) questionnaire preoperatively. In addition, SWAL-QOL was used to assess changes in the outcome of swallowing function after endoscopic treatment of Zenker's diverticulum compared to baseline. Pre- and postoperative SWAL-QOL data were analyzed in 25 patients who underwent endoscopic treatment of Zenker's diverticulum between January 2011 and December 2013. Patients were treated by different endoscopic techniques, depending on the size of the diverticulum: CO2 laser technique or stapler technique, or the combination of both techniques used in larger diverticula. Their mean age was 69 years, and 28% of patients were female. The mean interval between endoscopic surgery and completion of the postoperative SWAL-QOL was 85 days. The median (min-max) preoperative total SWAL-QOL score was 621 (226-925) out of 1100, indicating the perception of oropharyngeal dysphagia and diminished quality of life. Following endoscopic treatment of Zenker's diverticulum, significant improvement was demonstrated in the postoperative total SWAL-QOL score of 865 (406-1072) out of 1100 (p < 0.001). On the majority of subscales of SWAL-QOL there was significant improvement between pre- and postoperative scores. To the authors' knowledge, this is the first report in the literature on the changes in pre- and postoperative SWAL-QOL scores for patients with Zenker's diverticulum before and after treatment. The results of this study indicate that endoscopic treatment of Zenker's diverticulum leads to significant symptom relief as documented by significant changes in the majority of the SWAL-QOL domains.

Treatment efficacy of a titratable oral appliance in obstructive sleep apnea patients: a prospective clinical trial.

PURPOSE: This prospective clinical trial assessed the therapeutic outcomes of patients with obstructive sleep apnea (OSA) treated with a novel duobloc custom-made titratable mandibular advancement device (OAm). MATERIAL AND METHODS: The modular Somnomed G2® OAm (Somnomed Europe AG, Zurich, Switzerland) with 'click-to-fit' adjustability provides instant feedback on the mandibular advancement. 161 consecutive patients with established diagnoses of OSA. Dental impressions were made and a bite registration in 75% of the maximal protrusion being the starting protrusion. Treatment response was defined as ≥ 50% decrease in apnea-hypopnea index (AHI). Treatment success was defined as 1a) AHI with OAm < 5 events/h sleep or 1b) AHI with OAm < 10 events/h. Treatment success and response were combined to define additional criteria: 2a) reduction in AHI ≥ 50% and AHI < 5 events/h; and 2b) reduction in AHI ≥ 50% and AHI <10 events/h. RESULTS: In 112 patients AHI decreased significantly from 25 ± 18/h sleep at baseline to 12 ± 13/h with the OAm (p < 0.001). The visual analogue scoring for snoring (VAS) decreased significantly from 7 ± 3 to 2 ± 2 (p < 0.001). Treatment response was achieved in 65 of 112 patients (58%); 31% and 57% of patients were treated successfully according to criteria 1a and 1b, respectively. Furthermore, 31% and 50% of patients were treated successfully according to criteria 2a and 2b, respectively. CONCLUSIONS: This clinical trial indicates that treatment with a novel custom-made OAm can reduce the severity of sleep-disordered breathing by significantly decreasing the AHI and VAS scores.

Face and neck: airway and sensorial capacities.

Face and neck: airway and sensorial capacities. For the assessment and the management of face and neck trauma knowledge of the neuro-anatomy and physiology of the ear, nose, throat (ENT) and head and neck (HN) region and structures is essential, as this area is particularly vulnerable to injury. Indeed, the complex anatomy and physiology in this specific area supports important basic functions. In addition, this review elaborates on upper airway and sensorial capacities. Upper airway dimensions are influenced by bony and soft tissues. Age is of fundamental importance in the upper airway assessment, as significant differences in size and proportions apply in children and adults. The cranial nerves (CN) supply motor, sensory ad special sensory fibres to the upper airway. Injury of the CN is a frequent complication of trauma.

Penetrating and blunt trauma to the neck: clinical presentation, assessment and emergency management.

Penetrating and blunt trauma to the neck: clinical presentation, assessment ana emergency management. In Belgium, and even in Western Europe, penetrating and blunt injury to the neck is relatively uncommon in both the civilian and military populations. Pre-hospital and emergency assessment and management will therefore always prove challenging, as individual exposure to this specific type of injury remains low. Historically, the neck has been divided into three anatomical zones with specific landmarks to guide the diagnostic and therapeutic approach to penetrating neck injuries. Most penetrating injuries need to be explored surgically, although with the advent of multi-detector computed tomographic angiography (MDCTA), which yields high diagnostic sensitivity, this inflexible approach has recently changed to a more targeted management, based on clinical, radiographic and, if deemed necessary, endoscopic findings. However, some authors have addressed their concern about this novel, 'no-zone' approach, since the risk of missing less apparent aerodigestive tract injuries may increase. It is recommended, therefore, that all patients with penetrating neck injuries be closely observed, irrespective of the initial findings. The incidence of blunt neck injury is much lower, and this makes risk assessment and management even more difficult in comparison with penetrating injuries. Again, MDCTA is most often the first diagnostic tool if a blunt neck injury is suspected, due to its good sensitivity for blunt cerebrovascular injuries (BCVI) as well as for aerodigestive tract injuries. Specific patterns of injury and unexpected neurological and neuro-radiological findings in trauma patients should always warrant further investigation. Despite ongoing debate, systemic anticoagulation is recommended for most BCVI, sometimes combined with endovascular treatment. Aerodigestive tract injuries may present dramatically, but are often more subtle, making the diagnosis more difficult than other types of neck injuries. Treatment may be conservative if damage is minimal, but surgery is warranted in all other cases.

Complex intubation, cricothyrotomy and tracheotomy.

Complex intubation, cricothyrotomy and tracheotomy. Successful management of a difficult airway begins with recognizing the potential problem. When the patient cannot breathe spontaneously, oxygenation and ventilation should start first with bag-valve ventilation, with or without an airway adjunct such as a Mayo cannula, followed by an orotrache4l intubation attempt, performed by an experienced emergency doctor. If orotracheal intubation fails, a quick decision must be made regarding surgical options. In a "cannot intubate, cannot ventilate" situation, a surgical cricothyrotomy should be considered. When orotracheal intubation is impossible, but bag-valve or laryngeal mask ventilation is possible, an urgent surgical tracheostomy should be performed. In the long run, patients in need of longterm artificial ventilation will need a percutaneous or open tracheostomy. This review provides an update of all aspects of immediate and long-term airway management.

Nasal symptoms in patients with obstructive sleep apnea and their impact on therapeutic compliance with continuous positive airway pressure.

Continuous positive airway pressure (CPAP) is the first line treatment for moderate to severe obstructive sleep apnea syndrome. Despite the high effectiveness of this treatment, its use is often limited by suboptimal compliance and/or intolerance. Nasal side effects are considered a major cause of low therapeutic compliance. At present, there are no data to predict which patients will develop CPAP intolerance caused by nasal symptoms and only few studies looked at the effect of treatment of nasal symptoms on CPAP compliance. The first section of this review focuses on the impact of nasal symptoms (pre-existing or as a side effect of CPAP) on CPAP compliance/intolerance. The second section deals with the effect of nasal symptom treatment on CPAP compliance.

Prevalence of residual excessive sleepiness during effective oral appliance therapy for sleep-disordered breathing.

BACKGROUND: Oral appliance therapy with a mandibular advancement device (OAm) can yield to complete therapeutic response (apnea-hypopnea index [AHI]<5 events/h), though some patients show little or no improvement in daytime sleepiness. The prevalence of residual excessive sleepiness (RES) despite effective treatment with OAm therapy is unknown. We aimed to determine the prevalence of RES in patients treated with a titratable custom-made duobloc OAm. METHODS: A prevalence study was performed, collecting data from 185 patients with an established diagnosis of sleep-disordered breathing (SDB) under OAm therapy with a titratable custom-made duobloc device (baseline data were male:female ratio, 129:56; age, 48±9 years; body mass index [BMI], 27±4 kg/m2; Epworth Sleepiness Scale [ESS] score, 10±5; and AHI, 19±12 events/h). A full-night polysomnography was performed at baseline and after 3 months of OAm therapy. Daytime sleepiness was assessed using the ESS with RES defined as an ESS score of 11 or higher out of 24, despite complete therapeutic response. RESULTS: Out of 185 patients, 84 patients (45%) showed a complete therapeutic response with an AHI of <5 events per hour after 3 months of OAm therapy. Despite this normalization of AHI, 27 out of these 84 patients (32%) showed RES and had a significantly higher baseline ESS (15±4 vs. 9±4; P<.001) and were younger (43±9 vs. 47±9; P=.028) compared to patients without RES. CONCLUSION: RES under OAm therapy showed a prevalence of up to 32% in SDB patients effectively treated with respect to AHI. Patients with RES were younger and had higher baseline daytime sleepiness.

Evaluation of the impact of a clinical pathway on the organization of a multidisciplinary dental sleep clinic.

PURPOSE: Clinical pathways are used to organize complex care processes by providing structure and standardization. The multidisciplinary approach of oral appliance (OA) therapy for sleep-disordered breathing (SDB) is a complex and dynamic process suitable for such a structured pathway approach. METHODS: A clinical pathway for patients referred for OA therapy was developed and implemented. The aim of this study was to evaluate the impact of this clinical pathway on the time to delivery of the OA and the organization of the multidisciplinary dental sleep clinic (MDSC). The latter was achieved using the care process self-evaluation tool (CPSET). RESULTS: First, development and implementation of the clinical pathway gave structure and shortened the mean time to delivery by 102 days (240 ± 70 vs. 138 ± 33 days) (Mann-Whitney U: P < 0.001). Second, the CPSET scores were obtained in a cohort of 49 healthcare professionals involved in the pathway. Overall, patient-focused organization received the highest scores (80.5 ± 9.0%), whereas cooperation with primary care received the lowest score (66.7 ± 12.4%). CONCLUSIONS: This is the first project on clinical pathways in OA therapy for SDB. The implementation of the pathway in our MDSC has created a significant shortening of the time to delivery. A first evaluation of the clinical pathway using the CPSET scores indicates that all disciplines involved should be thoroughly informed in an ongoing approach.

Middle ear capillary haemangioma causing vestibulocochlear symptoms: a case report.

PROBLEM: A 58-year-old man presented with transient vertigo and pulsatile tinnitus. METHODS: High-resolution computed tomography, magnetic resonance imaging, excision, and subsequent immunohistochemical assays were performed. RESULTS: Imaging showed a soft tissue mass in the epitympanum and mastoid with bone erosion of the tegmen tympani and a dural tail sign, suggesting meningioma. Subsequently, because of signs of clinical progression, a canal-wall-up attico-antromastoidectomy was performed, with near-complete removal of a granulomatous, ossifying, haemorrhagic mass. CONCLUSIONS: Radiological imaging was critical in determining the extent of the mass and excluding other pathologies. Due to the atypical clinical and radiological signs, the final diagnosis of capillary haemangioma of the middle ear and temporal bone was made only after surgical resection and histopathological examination with immunohistochemistry, which excluded meningioma. The contiguous occurrence of cutaneous capillary haemangioma of the lateral face and neck was an important clue to the diagnosis.