Case Report: Challenging Otologic Surgery in Patients With 22q11.2 Deletion Syndrome.

Patients with 22q11.2 deletion syndrome frequently have conductive hearing loss and/or chronic otitis media. Otologic surgery is often opted for. We present two patients undergoing otologic surgery. This case report outlines the typical otologic surgical challenges in patients with 22q11.2 deletion syndrome. Case one is a 52 year old male patient with chronic otitis media who underwent a mastoidectomy. The pre-operative CT scan showed a fused lateral semicircular canal and vestibule. Peroperatively, the lateral semicircular canal could not be used as a landmark to identify the facial nerve. Case two is a 10 year old female patient with conductive hearing loss. A middle ear inspection was performed where a bony epitympanic fixation of the malleus was encountered. In addition, the manubrium of the malleus was atrophic and also fixated. The bony fixation was removed, as was the manubrium of the malleus. Otologists should be aware of these typical anatomical variations in patients with 22q11.2 deletion syndrome. We recommend to use CT scanning of the middle and inner ear when preparing for otologic surgery in 22q11.2 deletion syndrome.

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.

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.

Hearing loss and speech perception in noise difficulties in Fanconi anemia.

OBJECTIVES/HYPOTHESIS: Fanconi anemia is a hereditary chromosomal instability disorder. Hearing loss and ear abnormalities are among the many manifestations reported in this disorder. In addition, Fanconi anemia patients often complain about hearing difficulties in situations with background noise (speech perception in noise difficulties). Our study aimed to describe the prevalence of hearing loss and speech perception in noise difficulties in Dutch Fanconi anemia patients. STUDY DESIGN: Retrospective chart review. METHODS: A retrospective chart review was conducted at a Dutch tertiary care center. All patients with Fanconi anemia at clinical follow-up in our hospital were included. Medical files were reviewed to collect data on hearing loss and speech perception in noise difficulties. RESULTS: In total, 49 Fanconi anemia patients were included. Audiograms were available in 29 patients and showed hearing loss in 16 patients (55%). Conductive hearing loss was present in 24.1%, sensorineural in 20.7%, and mixed in 10.3%. A speech in noise test was performed in 17 patients; speech perception in noise was subnormal in nine patients (52.9%) and abnormal in two patients (11.7%). CONCLUSIONS: Hearing loss and speech perception in noise abnormalities are common in Fanconi anemia. Therefore, pure tone audiograms and speech in noise tests should be performed, preferably already at a young age, because hearing aids or assistive listening devices could be very valuable in developing language and communication skills. LEVEL OF EVIDENCE: 4. Laryngoscope, 127:2358-2361, 2017.

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. © 2016 Wiley Periodicals, Inc.

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.