Otorhinolaryngologic manifestations of 22q11.2 deletion syndrome

22q11.2 deletion syndrome (22q11DS) is caused by a microdeletion on chromosome 22. It occurs in approximately 1:3000-6000 live births. The aim of this thesis was to give an overview of otorhinolaryngologic manifestations in 22q11DS. We performed a systematic review describing all otologic manifestations reported in 22q11DS in the literature thus far. We found 21 studies describing hearing loss and 21 studies reporting on other otologic manifestations. The range of hearing loss varied greatly, from 6.0 to 60.3%. The hearing loss was mostly conductive in origin. Recurrent or chronic otitis media was described in 2.2 – 89.8%. In our retrospective study we included 199 patients with 22q11DS who had visited our clinic, independently of symptoms. 102 patients had received an audiogram. 38% of ears had hearing loss, 94% of the ears with hearing loss were conductive in nature, and 4% were found to be mixed hearing losses. At time of most recent audiogram, 22,5% had a concomitant otitis media with effusion. 61% of patients had a history of tympanic membrane tube placement. 10% of patients used conventional hearing aids or a bone conduction device. We found no relation between age and hearing thresholds or otitis media. In addition, we analyzed radiologic images of the mastoid bones of 26 patients with 22q11DS. A dense stapes superstructure was present in 36% of ears, an incomplete partition type II of the cochlea in 23% of ears, a malformed lateral semicircular canal with a small bony island in 33% of ears and fusing of the lateral semicircular canal and vestibule to a single cavity in 29% of ears. In addition, the lateral semicircular canal is an important landmark for identifying the facial nerve during mastoid surgery. To avoid iatrogenic facial nerve damage otologic surgeons should be aware of this anomaly, perform a CT scan prior to surgery and use facial nerve monitoring during surgery in patients with 22q11DS. Next, we performed a questionnaire study on vestibular symptoms. We found that children with 22q11DS experienced balance difficulties more often and were older when they started walking compared to children in the control group. Dizziness seemed not to be more frequently reported in children with 22q11DS. Furthermore, we described 14 patients with 22q11DS and an airway malformation. We concluded that different types of airway malformations (choanal stenosis, pharyngo-, laryngo-, tracheo-, and/or bronchomalacie, tracheal stenosis, laryngeal web, laryngeal cleft, subglottic stenosis) can be present in 22q11DS. In five patients a vascular structure compressed the airway causing an airway malacia. There were three patients who required a tracheostomy. Clinicians should be aware of airway malformations in 22q11DS, and start early treatment if necessary. In addition, the diagnosis 22q11DS should be considered in patients with an (or more than one) airway anomaly

A Systematic Review on Complications of Tissue Preservation Surgical Techniques in Percutaneous Bone Conduction Hearing Devices

OBJECTIVE:: To investigate skin-related postoperative complications from tissue preservation approaches in percutaneous bone conduction device (BCD) implantations. DATA SOURCES:: PubMed, Embase, and Cochrane Library. STUDY SELECTION:: We identified studies on BCDs including the opted surgical technique and derived complications. Retrieved articles were screened using predefined inclusion criteria. Critical appraisal included directness of evidence and risk of bias. Studies that successfully passed critical appraisal were included. DATA EXTRACTION:: Outcome measures included patient demographics, surgery time, follow-up time, and complications reported by Holgers classification. DATA SYNTHESIS:: We selected 18 articles for data extraction; encompassing 381 BCDs implanted using non-skin thinning approaches. Four studies reported an implantation technique using the punch method (81 implants), 13 studies applied the linear incision technique without soft tissue reduction (288 implants) and one study used the Weber technique (12 implants). Holgers 3 was described in 2.5% following the punch technique, in 5.9% following the linear incision technique, and in no implants following the Weber technique. One patient was mentioned having Holgers 4, skin overgrowth was reported in 6 patients, and 10 studies compared their non-skin thinning technique with a skin-thinning technique. Overall, the soft tissue preservation technique had a similar or superior complication rate, shorter surgical time, and better and faster healing, compared with the soft tissue reduction technique. CONCLUSION:: Tissue preservation surgical techniques for percutaneous BCDs have limited postoperative skin complication rates. Moreover, these techniques are suggested to have at least similar complications rates compared with skin-thinning techniques

A Systematic Review on Complications of Tissue Preservation Surgical Techniques in Percutaneous Bone Conduction Hearing Devices

OBJECTIVE:: To investigate skin-related postoperative complications from tissue preservation approaches in percutaneous bone conduction device (BCD) implantations. DATA SOURCES:: PubMed, Embase, and Cochrane Library. STUDY SELECTION:: We identified studies on BCDs including the opted surgical technique and derived complications. Retrieved articles were screened using predefined inclusion criteria. Critical appraisal included directness of evidence and risk of bias. Studies that successfully passed critical appraisal were included. DATA EXTRACTION:: Outcome measures included patient demographics, surgery time, follow-up time, and complications reported by Holgers classification. DATA SYNTHESIS:: We selected 18 articles for data extraction; encompassing 381 BCDs implanted using non-skin thinning approaches. Four studies reported an implantation technique using the punch method (81 implants), 13 studies applied the linear incision technique without soft tissue reduction (288 implants) and one study used the Weber technique (12 implants). Holgers 3 was described in 2.5% following the punch technique, in 5.9% following the linear incision technique, and in no implants following the Weber technique. One patient was mentioned having Holgers 4, skin overgrowth was reported in 6 patients, and 10 studies compared their non-skin thinning technique with a skin-thinning technique. Overall, the soft tissue preservation technique had a similar or superior complication rate, shorter surgical time, and better and faster healing, compared with the soft tissue reduction technique. CONCLUSION:: Tissue preservation surgical techniques for percutaneous BCDs have limited postoperative skin complication rates. Moreover, these techniques are suggested to have at least similar complications rates compared with skin-thinning techniques

Middle ear abnormalities in Van Maldergem syndrome

Van Maldergem syndrome (VMS) is a very rare syndrome that was first described in 1992. The main features of this syndrome comprise intellectual disability, blepharo-naso-facial malformation, and hand anomalies. Almost all nine described patients have been shown to be affected by conductive hearing impairment attributed to microtia, and atresia of the outer ear canal. Here, we present a VMS patient with congenital malformations of the middle ear as the main reason for severe conductive bilateral hearing impairment. To our knowledge, this is the first report to describe middle ear abnormalities in VMS. These malformations were seen on high resolution Computed Tomography scanning and during an exploratory tympanotomy. Due to the severity of the middle ear abnormalities and the risk for facial nerve damage, the patient was not offered an ossicular chain reconstruction but a bone conduction device after this exploratory tympanotomy

Congenital respiratory tract disorders in 22q11.2 deletion syndrome

Objective Respiratory tract disorders have been reported in patients with 22q11.2 deletion syndrome, however infrequently. This study describes the respiratory tract disorders encountered in a cohort of 278 patients with 22q11.2 deletion syndrome. Methods We conducted a retrospective, cross-sectional, study at a single tertiary referral center. We identified the patients with 22q11.2 deletion syndrome and with an upper and/or lower respiratory tract disorder at our otorhinolaryngologic department. The different disorders were described. Results Out of 278 patients referred to the otorhinolaryngologic department, we identified 14 patients with a laryngeal and/or tracheal disorder. Nine patients had more than one congenital disorder in this anatomical area. Disorders included a choanal stenosis (n = 1), laryngeal web (n = 5), laryngeal cleft (n = 2), subglottic stenosis (n = 3), pharyngo-, laryngo-, tracheo- and/or bronchomalacia (n = 11) and tracheal stenosis (n = 1). Conclusion Different types of respiratory tract disorders can be present in patients with 22q11.2 deletion syndrome. Clinicians should be aware of this clinical association for timely and accurate diagnosis and treatment. In addition, the diagnosis 22q11.2 deletion syndrome should be considered in patients presenting with a congenital respiratory tract disorder

Congenital respiratory tract disorders in 22q11.2 deletion syndrome

Objective Respiratory tract disorders have been reported in patients with 22q11.2 deletion syndrome, however infrequently. This study describes the respiratory tract disorders encountered in a cohort of 278 patients with 22q11.2 deletion syndrome. Methods We conducted a retrospective, cross-sectional, study at a single tertiary referral center. We identified the patients with 22q11.2 deletion syndrome and with an upper and/or lower respiratory tract disorder at our otorhinolaryngologic department. The different disorders were described. Results Out of 278 patients referred to the otorhinolaryngologic department, we identified 14 patients with a laryngeal and/or tracheal disorder. Nine patients had more than one congenital disorder in this anatomical area. Disorders included a choanal stenosis (n = 1), laryngeal web (n = 5), laryngeal cleft (n = 2), subglottic stenosis (n = 3), pharyngo-, laryngo-, tracheo- and/or bronchomalacia (n = 11) and tracheal stenosis (n = 1). Conclusion Different types of respiratory tract disorders can be present in patients with 22q11.2 deletion syndrome. Clinicians should be aware of this clinical association for timely and accurate diagnosis and treatment. In addition, the diagnosis 22q11.2 deletion syndrome should be considered in patients presenting with a congenital respiratory tract disorder

Are there gender disparities in symptom presentation or triage of patients with chest discomfort at primary care out-of-hours services? : An observational study

OBJECTIVES: Previous hospital-based studies have suggested delayed recognition of acute coronary syndrome (ACS) in women. We wanted to assess differences in symptom presentation or triage among women and men who contacted primary care out-of-hours services (OHS) for chest discomfort. DESIGN: Retrospective observational study. SETTING: Primary care OHS. PARTICIPANTS: 276 women and 242 men with chest discomfort who contacted a primary care OHS in the Netherlands in 2013 and 2014. MAIN OUTCOME MEASURES: Differences between women and men regarding symptom presentation and urgency allocation. RESULTS: 8.4% women and 14.0% men had ACS. Differences in symptoms between patients with and without ACS were in general small, for both women and men. In women with ACS compared with women without ACS, mean duration of telephone calls was discriminative; 5.22 (SD 2.53) vs 7.26 (SD 3.11) min, p value=0.003. In men, radiation of pain (89.3% vs 54.9%, p value=0.011) was discriminative for ACS, and stabbing chest pain (3.7% vs 24.0%, p value=0.014) for absence of ACS . Women and men with chest discomfort received similar high urgency allocation (crude and adjusted OR after correction for ACS and age; 1.03 (95% CI 0.72 to 1.48) and 1.04 (95% CI 0.72 to 1.52), respectively). Women with ACS received a high urgency allocation in 22/23 (95.7%) and men with ACS in 30/34 (88.2%), p value=0.331. CONCLUSIONS: Discriminating ACS in patients with chest discomfort who contacted primary care OHS is difficult in both women and men. Women and men with chest discomfort received similar high urgency allocation

Are there gender disparities in symptom presentation or triage of patients with chest discomfort at primary care out-of-hours services? An observational study

Objectives Previous hospital-based studies have suggested delayed recognition of acute coronary syndrome (ACS) in women. We wanted to assess differences in symptom presentation or triage among women and men who contacted primary care out-of-hours services (OHS) for chest discomfort. Design Retrospective observational study. Setting Primary care OHS. Participants 276 women and 242 men with chest discomfort who contacted a primary care OHS in the Netherlands in 2013 and 2014. Main outcome measures Differences between women and men regarding symptom presentation and urgency allocation. Results 8.4% women and 14.0% men had ACS. Differences in symptoms between patients with and without ACS were in general small, for both women and men. In women with ACS compared with women without ACS, mean duration of telephone calls was discriminative; 5.22 (SD 2.53) vs 7.26 (SD 3.11) min, p value=0.003. In men, radiation of pain (89.3% vs 54.9%, p value=0.011) was discriminative for ACS, and stabbing chest pain (3.7% vs 24.0%, p value=0.014) for absence of ACS. Women and men with chest discomfort received similar high urgency allocation (crude and adjusted OR after correction for ACS and age; 1.03 (95% CI 0.72 to 1.48) and 1.04 (95% CI 0.72 to 1.52), respectively). Women with ACS received a high urgency allocation in 22/23 (95.7%) and men with ACS in 30/34 (88.2%), p value=0.331. Conclusions Discriminating ACS in patients with chest discomfort who contacted primary care OHS is difficult in both women and men. Women and men with chest discomfort received similar high urgency allocation