Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

PurposeHearing loss is more prevalent in the Saudi Arabian population than in other populations; however, the full range of genetic etiologies in this population is unknown. We report the genetic findings from 33 Saudi hearing-loss probands of tribal ancestry, with predominantly prelingual severe to profound hearing loss.MethodsTesting was performed over the course of 2012-2016, and involved initial GJB2 sequence and GJB6-D13S1830 deletion screening, with negative cases being reflexed to a next-generation sequencing panel with 70, 71, or 87 hearing-loss genes.ResultsA "positive" result was reached in 63% of probands, with two recurrent OTOF variants (p.Glu57* and p.Arg1792His) accountable for a third of all "positive" cases. The next most common cause was pathogenic variants in MYO7A and SLC26A4, each responsible for three "positive" cases. Interestingly, only one "positive" diagnosis had a DFNB1-related cause, due to a homozygous GJB6-D13S1830 deletion, and no sequence variants in GJB2 were detected.ConclusionOur findings implicate OTOF as a potential major contributor to hearing loss in the Saudi population, while highlighting the low contribution of GJB2, thus offering important considerations for clinical testing strategies for Saudi patients. Further screening of Saudi patients is needed to characterize the genetic spectrum in this population.

Etiology of Acute Otitis Media in Children Less Than 5 Years of Age: A Pooled Analysis of 10 Similarly Designed Observational Studies.

BACKGROUND: Acute otitis media (AOM) is an important cause of childhood morbidity and antibiotic prescriptions. However, the relative importance of the well-known otopathogens, Streptococcus pneumoniae (Spn) and Haemophilus influenzae (Hflu), remains unclear because of a limited number of tympanocentesis-based studies that vary significantly in populations sampled, case definitions and heptavalent pneumococcal conjugate vaccine use. METHODS: We conducted a pooled analysis of results from 10 AOM etiology studies of similar design, the protocols of which were derived from a common protocol and conducted in children 3 months to 5 years of age in different countries. Generalized estimating equations were used to account for within-study correlations. RESULTS: The majority, 55.5% (95% confidence interval: 47.0%-65.7%) of 1124 AOM episodes, were bacterial pathogen positive: 29.1% (24.8%-34.1%) yielded Hflu and 23.6% (19.0%-29.2%) Spn. Proportions of Hflu and Spn were higher and lower, respectively, in heptavalent pneumococcal conjugate vaccine-vaccinated children. Hflu and Spn were each isolated from 20% to 35% of children in every 1-year age range. Hflu was less likely to be isolated from first (vs. subsequent) episodes [relative risk (RR): 0.71 (0.60-0.84)]. Spn was more often isolated from sporadic (vs. recurrent) cases [RR: 0.76 (0.61-0.97)]; the opposite was true for Hflu [RR: 1.4 (1.00-1.96)]. Spn cases were more likely to present with severe (vs. mild) symptoms [RR: 1.42 (1.01-2.01)] and Hflu cases with severe tympanic membrane inflammation [RR: 1.35 (1.06-1.71)]. CONCLUSIONS: Spn and Hflu remain the leading otopathogens in all populations examined. While associated with overlapping symptoms and severity, they exhibit some differences in their likelihood to cause disease in specific subpopulations.

A prospective, observational, epidemiological evaluation of the aetiology and antimicrobial susceptibility of acute otitis media in Saudi children younger than 5years of age.

BACKGROUND: Information regarding acute otitis media (AOM) aetiology is important for developing effective vaccines. Here, bacterial aetiology and antimicrobial susceptibility of AOM were determined in young Saudi children. METHODS: Children aged 3-60months with a new episode of AOM, who had not received antibiotics or had received antibiotics for 48-72h but remained symptomatic, were enrolled in this prospective, observational, epidemiological study in Riyadh. Middle ear fluid (MEF) samples were collected by tympanocentesis or from spontaneous otorrhea, and tested for the presence of Streptococcus pneumoniae, Haemophilus influenzae, Streptococcus pyogenes and Moraxella catarrhalis. Antimicrobial susceptibility of the identified pathogens was assessed using E-tests. RESULTS: Between June 2009 and May 2011, 66 children were enrolled. S. pneumoniae was detected in 6 episodes and non-typeable H. influenzae (NTHi) in 8 episodes. Moreover, Staphylococcus aureus, which is an uncommon cause of AOM, was detected in 17 episodes. Pneumococcal serotypes were 7F (n=2), 23F (n=2), 19F (n=1) and 15F (n=1). Susceptibility to cefotaxime was observed in all pneumococcal and H. influenzae isolates, to cefuroxime in 4/6 pneumococcal and 8/8 H. influenzae isolates, and to penicillin in 5/6 pneumococcal isolates. CONCLUSIONS: S. pneumoniae and NTHi were major bacterial contributors for AOM in Saudi children.

Labyrinthotomy or vestibulotomy in anatomic and congenital variations of the oval window and facial nerve.

OBJECTIVE: To present the results of our experience with labyrinthotomy or vestibulotomy in cases where the oval window is blocked by the facial nerve and in the presence of bilateral congenital agenesis of the oval window, respectively. STUDY DESIGN: Retrospective analysis of the records of the patients operated in two different centers. METHODS: Between 2007 and 2012, 5 ears of 4 patients who were operated on in two different clinics with a presumptive diagnosis of otosclerosis were included in the study. There were 3 female patients and 1 male. The ages ranged from 10 to 26 (mean 19 years). All patients had unilateral conductive hearing loss except 1 (10-year-old girl or patient 1). Pure tone averages were calculated at the frequencies 0.5, 1, 2 and 4 kHz both pre- and postoperatively according to the Committee on Hearing and Equilibrium 1995 Guidelines for the Evaluation of Results of Treatment of Conductive Hearing Loss. All patients underwent a middle ear exploration and postoperatively the initial audiological examination was performed after 6 months. RESULTS: Retrospective analysis revealed that vestibulotomy or labyrinthotomy was performed in 5 ears of 4 patients. Postoperative dizziness was encountered in 2 patients who had vestibulotomy due to oval window agenesis, which ceased spontaneously at 1 month postoperatively. The perioperative period was otherwise uneventful. None of the patients had sensorineural hearing loss or deterioration of hearing. There was a significant improvement in hearing after the operation. A 28-dB improvement in the mean air conduction pure tone thresholds was achieved. CONCLUSION: Vestibulotomy and labyrinthotomy are safe and effective procedures in terms of hearing restoration, which can be applied in cases of congenital agenesis of the oval window or obstruction of the oval window by the facial nerve.

Laryngeal mask airway vs. uncuffed endotracheal tube for nasal and paranasal sinus surgery: paediatric airway protection.

BACKGROUND AND OBJECTIVE: Risks are anticipated for laryngeal mask airway (LMA) anaesthesia during nasal and sinus surgeries because blood can trickle posteriorly into the hypopharynx and contaminate the airway. This study was conducted to determine whether a LMA could provide adequate airway protection from the expected intraoperative bleeding. METHODS: After obtaining ethics committee approval, 60 children ASA status I or II, 1-12 years of age, and scheduled for nasal and sinus surgery were randomized to one of two groups, endotracheal tube (ETT) or LMA, with 30 patients in each. Topical lidocaine with adrenaline was used in all patients, and throat packs were used for the ETT group. The airway was examined using a fibreoptic endoscope in order to determine whether blood or tissue debris soiled the supraglottic airway or trachea. After extubation, LMAs and ETTs were examined for soiling by blood and graded on a scale of 0-3. For ETT, the grades were 0, none; 1, contamination above the mark for vocal cord depth; 2, contamination below the mark for vocal cord depth; and 3, contamination interiorly. For LMA, they were 0, no staining; 1, staining on the anterior aspect of the cuff of the LMA; 2, staining inside the cup of the LMA; and 3, staining found in the tube. RESULTS: Blood stains were found in the larynx of one child in the LMA group. In the ETT group, there were three cases of staining (two supraglottic and one in the trachea, P = 0.161). With the LMA, 12 (40%) and 18 (60%) patients had visual contamination scores of 0 and 1, respectively. With the ETT, 14 (46.7%), 10 (33.3%), and six (20%) patients had visual contamination scores of 0, 1, and 2, respectively (P = 0.0123). CONCLUSION: LMA is a suitable method for paediatric patients undergoing sinonasal surgery because it offers airway protection from blood contamination comparable to that of a standard uncuffed ETT with throat pack.

Poland-Mobius syndrome in an infant girl.

Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies . Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with congenital bilateral vocal fold immobility. To our knowldge, this is the first report of such an association between Poland-Mobius syndrome and congenital bilateral vocal fold immobility.

Effectiveness of transnasal endoscopic powered adenoidectomy in patients with choanal adenoids.

OBJECTIVES: To demonstrate the technique and efficacy of powered assisted adenoidectomy using nasal endoscopy. PATIENTS AND METHODS: Between 2002 and 2003, forty children (age ranged from 3 to 17 years) with symptoms and signs suggestive of snoring and/or obstructive sleep apnea and choanal adenoids were randomly selected and distributed in two groups. Group A underwent transnasal endoscopic powered adenoidectomy (TEPA) and group B underwent curettage adenoidectomy (CA). Both groups underwent pre- and postoperative nasal endoscopy. Direct comparisons between the two groups were made with regards to operative time, amount of blood loss, postoperative morbidity, complications, and resolution of symptoms. RESULTS: Male to female distribution was equal 1:1. The mean age of both groups was 8 years. In group A, the mean blood loss was 8.2 ml compared to 22.1 ml in group B (p<0.05). The operative time in group A was 6.1 min vs 12.3 min in group B (p<0.05). There were no operative or postoperative complications in both groups. Postoperative follow up and nasal endoscopy showed no recurrence of symptoms or adenoid remnants. CONCLUSION: Using TEPA for removing choanal adenoids is an adequate and safe method. The TEPA technique can be added to the armamentarium of techniques used by pediatric otolaryngologists.

Characteristics of antrochoanal polyps in the pediatric age group.

OBJECTIVES: To evaluate and compare the clinical and the pathological characteristics of antrochoanal polyps (ACPS) in adults and children. MATERIALS AND METHODS: Medical records of 35 patients (19 children, 16 adults) operated upon for ACPS between 1995 and 2005 at an academic tertiary center were reviewed retrospectively. Demographic characteristics, clinical presentation, surgical management, histological findings and recurrence rate were compared. RESULTS: Of the 35 patients, 19 (54%) were children (mean age, 12.6 years) and 16 (46%) were adults (mean age, 31.4 years). Nasal obstruction was the most common presenting symptom in both groups. The incidence of snoring and/or obstructive sleep apnea was statistically significant, more common among the pediatric age group as compared to the adult group (P =.001). Epistaxis was also found to be more common among the pediatric age group (P =.027), while sinusitis was noted to be significantly more common among the adult group (P =.019). Transnasal endoscopic removal of ACPS was performed in 12 (63.1%) children and 11 (68.7%) adults. A combined open/endoscopic approach was required in 36.9% of children and 31.3% of adults. On histologic examination, allergic ACPS (the mucosal surface is respiratory epithelium, no mucus glands, abundant eosinophils) was more common than inflammatory ACPS (the mucosal surface is respiratory epithelium, no mucus glands, abundant neutrophils) in children (2.8:1) as compared to adults (0.8:1) (P =.045). All of our patients were followed with endoscopic examination for a period ranging from 9 to 42 months (mean, 24 months). Recurrence of ACPS was identified in 2 children and 1 adult. CONCLUSION: Antrochoanal polyps are a rare clinical entity. Children have unique clinical and pathological features as compared to adults. Endoscopic excision is safe and effective in the pediatric age group and has the capability to ensure complete removal and lower recurrence rate.

Surgical emergencies in pediatric otolaryngology.

OBJECTIVE: To obtain baseline data on the most common surgical emergencies in pediatric otolaryngology in Saudi Arabia. METHODS: This report is a retrospective study of all children presenting to the pediatric otolaryngology emergency service at King Abdulaziz University Hospital in Riyadh, Kingdom of Saudi Arabia. Between January 2001 to January 2006 data were carefully collected and then analyzed for patients requiring emergent surgical intervention by the pediatric otolaryngology service. RESULTS: A total of 15,850 children presented to our pediatric otolaryngology emergency service. Surgical intervention was indicated in 183 children (1.2%). The larynx/head & neck was the most common site involved. Foreign body related emergencies were the most common presentation requiring surgical interventions (42%). The aero-digestive tract was the most common site for foreign body retrieval (54%). CONCLUSION: Pediatric patients have always constituted a significant portion of the general otolaryngology service. Most pediatric otolaryngology emergencies are relatively benign. Aero-digestive tract foreign bodies are the most common indication for surgical intervention in ped iatric otolaryngology.

Comparison of the outer diameter of the 'best-fit' endotracheal tube with MRI-measured airway diameter at the cricoid level.

BACKGROUND AND OBJECTIVE: In this study, we evaluated the ratio of the outer diameter of an uncuffed Mallinckrodt endotracheal tube (ETT, Mallinckrodt Tyco Healthcare UK Ltd) to the MRI-measured internal transverse airway diameter (ITD) at the cricoid level in children. METHODS: With institutional ethics committee approval and parental consent, we measured the ITD at the cricoid level from MRI images of children undergoing MRI diagnostic procedures requiring general anaesthesia with orotracheal intubation. The ITD at the cricoid level was compared with the outer diameter of the utilized ETT. Linear regression analysis was employed to assess the correlation of tracheal diameter with age, height and weight. For all tests, a P value of less than 0.05 was considered to be statistically significant. RESULTS: Fifty patients were studied (21 girls and 29 boys). The difference between the ITD at the cricoid level and the outer tracheal tube diameter ranged from 0.1 to 1.7 mm (median 0.7 mm). The internal transverse tracheal diameters had a strong association with age (r=0.7077, P<0.001), a moderate association with height (r=0.5928, P<0.001), and a mild association with weight (r=0.2437, P<0.001). CONCLUSION: The outer diameter of the 'best-fit' ETT was less than the ITD at the cricoid level by 0.1-1.7 mm. The correlation of the outer diameter of the 'best-fit' ETT with age was stronger than with height or weight.

Nasopharyngeal teratoma associated with cleft palate in a newborn.

Teratomas of the head and neck are rare congenital lesions comprising less than 10% of reported cases. Nasopharyngeal teratomas (NPT) are even rare. A case presented of a newborn with NPT associated with cleft palate. The most common presenting symptom of NPT is respiratory distress. The management of choice for NPT is surgical excision. Overall, the prognosis for NPT is excellent. Recurrences are rare, and are felt to be due to incomplete surgical resection.

Adherent biofilms in adenotonsillar diseases in children.

OBJECTIVE: To study biofilm formation on the epithelial surfaces of tonsils and adenoids in children undergoing adenotonsillectomy (T&A). DESIGN: Prospective study. SETTING: Tertiary academic hospital. PATIENTS: Between September 2005 and August 2006, 76 patients (mean [SD] age, 5.7 [3.3] years; age range, 1-18 years; male-female ratio, 1.8:1) undergoing T&A to treat infection, obstruction, or both were included. Of these, 44 had obstruction (58%), 26 had infection (34%), and 6 had both (8%). INTERVENTIONS: Scanning electron microscopy was used to assess for the presence of biofilms. MAIN OUTCOME MEASURE: Presence of adherent biofilms on the surface epithelium of tonsils and adenoids. RESULTS: Adherent biofilm formation was demonstrated in 46 patients (61%). Among 26 patients with infections, adherent biofilm formation was detected in 22 (85%), whereas in the group of 44 patients with obstruction only 18 were found to have biofilms (41%). Comparative analysis of the data revealed that the difference was statistically significant (P = .01). CONCLUSIONS: Biofilms were identified on the surfaces of infected or enlarged tonsils and adenoids in most patients undergoing T&A. The presence of biofilms in a significantly higher proportion of patients with chronically inflamed tonsils and adenoids vs patients with obstruction indicates an association between the presence of biofilms and chronic inflammation.

Pediatric parotidectomy. Indications and complications.

OBJECTIVE: To evaluate the surgical results of pediatric parotid gland masses with specific attention to complications. METHODS: A retrospectively review of medical records n=21 aged one to 18 years who underwent parotidectomy at Doernbecher Children's Hospital, Portland, Oregon, USA from 1993 to 2003. The exclusion criteria were as follows; age above 18 years, incision and drainage of parotid abscess, biopsy of parotid lesions. RESULTS: Twenty-one children who underwent parotidectomy were included in the study. Seventeen had superficial parotidectomy and 4 had total parotidectomy. One patient had bilateral separate superficial parotidectomy. Sixteen lesions were non-neoplastic. Facial nerve monitor was used in 10 patients. The most common lesions were atypical mycobacterium and first branchial cyst anomaly (5 each). Over all complication rate was 47.6%. The most common complication was temporary facial nerve palsy (33%) followed by ear lobule numbness and Frey's syndrome (14% each). Recurrence occurred in one patient with polycystic disease of the parotid. Duration of follow-up ranged from 3 months to more than 7 years. CONCLUSION: Parotidectomy in children can present some difficulties for the otolaryngologist. The mutilating complication of facial nerve palsy in childhood can be devastating especially for benign diseases. Parotid surgery in children should be limited to units with appropriate expertise in this challenging field.

Kasabach-Merritt phenomenon.

An association between a vascular lesion and a life threatening coagulopathy is called Kasabach-Merritt phenomenon (KMP). It includes thrombocytopenia, microangiopathic hemolytic anemia, and disseminated intravascular coagulopathy. We cannot overstate the need for excellent and careful screening. Treatment modalities of KMP have included medication, radiation, embolization and surgery. Corticosteroids have traditionally been the mainstay of treatment. We report a 4-month-old girl with an extensive vascular lesion involving the left parotid, submandibular, and parapharyngeal regions, and with KMP. We treated her with a mega dose of corticosteroids. Her coagulopathy resolved, and her vascular lesion improved.

Ossifying fibromyxoid tumor of the ethmoid sinus in a newborn: report of a case and literature review.

Ossifying fibromyxoid tumor (OFT) of soft parts is a benign soft tissue tumor commonly located in the extremities. In this paper, a 3-week-old boy presented with left nasal mass at birth. He was found to have an OFT involving the ethmoid sinus. To the best of our knowledge, this is the first reported case of OFT in a newborn with involvement of the sinuses. This rare tumor should alert Pediatric Otolaryngologists to include it in the differential diagnosis of pediatric soft tissue tumors in sinuses.

Facial nerve anomalies in association with congenital hearing loss.

OBJECTIVE: Facial nerve (FN) anomalies are exceedingly rare. The association between a hearing loss and an anomalous facial nerve has never been touched deeply in the literature. The aim of this study is to report facial nerve anomalies in patients presenting with congenital hearing loss (COHL) and/or facial nerve palsy. METHODS: A retrospective chart review over 10 years from two academic tertiary referral centers. Eight patients were diagnosed with facial nerve anomalies in association with congenital hearing loss. The age ranged from 7 months to 13 years. RESULTS: Five patients had conductive congenital hearing loss (CCHL). Two had congenital sensorineural hearing loss (CSNHL). The eighth patient had a mixed hearing loss (MHL). Surgical findings for patients with conductive congenital hearing loss included facial nerve passing inferior to oval window (OW) (two patients), facial nerve covering head of stapes (three patients), deformed stapes (two patient), deformed incus (two patient), and absent incus (one patient). Radiological findings for patients with congenital sensorineural hearing loss and mixed hearing loss include, single cavity anomaly (one patient), dilated vestibule and superior semicircular canal (one patient), and absent internal auditory canal (IAC) (two patients). For patients with conductive congenital hearing loss, the radiological findings consistency demonstrates a soft tissue opacification in the middle ear. CONCLUSIONS: Congenital hearing loss may be associated with facial nerve anomalies. Pediatric otolaryngologists should be cautious when exploring patients with conductive congenital hearing loss.