Tinnitus Perspectives among Israeli Ear, Nose and Throat Physicians: A Nationwide Survey.

OBJECTIVES: To study the compliance of ear, nose, and throat (ENT) physicians to the American Association Otolaryngology-Head - Neck Surgery (AAO-HNS) clinical practice guidelines (CPG) for tinnitus and to identify the disparity of both diagnosis and management options in the absence of a local protocol for the management of adult tinnitus. MATERIALS AND METHODS: A voluntary and anonymous questionnaire was emailed in a Google spread-out sheet format to all practicing ENT physicians across the country (n=370). Overall, 126 ENT physicians responded to the questionnaire (34% of the physicians to whom the questionnaire was sent). RESULTS: Medical history focuses on tinnitus characteristics and otological signs, and symptoms are often queried (80%-98%). Physicians routinely perform an otoscopic examination, whereas other relevant possible physical findings, such as temporomandibular joint disorders or neck trauma, are less frequently examined. Treating physicians have the most frequent recourse to sound therapy and cognitive behavioral therapy in accordance with AAO-HNS CPG. CONCLUSION: The publication of the AAO-HNS CPG for tinnitus is important, permitting a common approach for the diagnosis and management of primary tinnitus (PT). A diagnosis and management scheme that takes into consideration both the AAO-HNS CPG for tinnitus as well as physician diagnosis and management paradigms is suggested.

Next-generation sequencing of patients with congenital anosmia.

We performed whole exome or genome sequencing in eight multiply affected families with ostensibly isolated congenital anosmia. Hypothesis-free analyses based on the assumption of fully penetrant recessive/dominant/X-linked models obtained no strong single candidate variant in any of these families. In total, these eight families showed 548 rare segregating variants that were predicted to be damaging, in 510 genes. Three Kallmann syndrome genes (FGFR1, SEMA3A, and CHD7) were identified. We performed permutation-based analysis to test for overall enrichment of these 510 genes carrying these 548 variants with genes mutated in Kallmann syndrome and with a control set of genes mutated in hypogonadotrophic hypogonadism without anosmia. The variants were found to be enriched for Kallmann syndrome genes (3 observed vs. 0.398 expected, p = 0.007), but not for the second set of genes. Among these three variants, two have been already reported in genes related to syndromic anosmia (FGFR1 (p.(R250W)), CHD7 (p.(L2806V))) and one was novel (SEMA3A (p.(T717I))). To replicate these findings, we performed targeted sequencing of 16 genes involved in Kallmann syndrome and hypogonadotrophic hypogonadism in 29 additional families, mostly singletons. This yielded an additional 6 variants in 5 Kallmann syndrome genes (PROKR2, SEMA3A, CHD7, PROK2, ANOS1), two of them already reported to cause Kallmann syndrome. In all, our study suggests involvement of 6 syndromic Kallmann genes in isolated anosmia. Further, we report a yet unreported appearance of di-genic inheritance in a family with congenital isolated anosmia. These results are consistent with a complex molecular basis of congenital anosmia.

Cardiovascular Risk Factors Among Patients With Vestibular Neuritis.

OBJECTIVE: To investigate the correlation between cardiovascular risk factors (CVRFs) and vestibular neuritis (VN) in hospitalized adult patients. METHODS: A cross-sectional retrospective study was conducted in a tertiary hospital setting. The medical records of patients (aged over 18 years old) who were hospitalized between the years 2005 and 2014 with the diagnosis of VN were retrieved. Inclusion criteria were: (1) acute vertigo lasting for at least 24 hours, (2) absence of auditory complaints, (3) horizontal unidirectional nystagmus present during physical examination, and (4) absence of neurological symptoms or signs. The ratio of CVRFs among VN patients was compared to the ratio of those among the general Israeli population. RESULTS: A significantly higher prevalence of CVRFs was found among VN hospitalized patients in comparison to the general population ( P < .05). Furthermore, a significant correlation ( P < .001) was found between the patients' age and the number of CVRFs (r = .387). A positive correlation (r = .643) was found between the number of CVRFs and VN in each age group ( P = .119). CONCLUSION: There may be a possible interrelation between CVRFs and VN. This correlation can be caused by occlusion of small blood vessels leading to labyrinthine ischemia and apparition of symptoms of VN.

Acute Mastoiditis in Children: Necessity and Timing of Imaging.

BACKGROUND: Acute mastoiditis (AM) can be clinically diagnosed, with an option for supplemental imaging: computed tomography (CT) scan and magnetic resonance imaging (MRI). Debate widely exists whether clinical diagnosis alone is sufficient, in view of the risk of missing undetected complications. We sought to study the reasons leading to the performance of an imaging study during AM course. METHODS: Medical records of children younger than 8 years who were admitted from 2005 to 2014 with AM were retrospectively reviewed. Data included medical history, signs and symptoms, laboratory results, imaging studies, treatment methods and final outcomes. RESULTS: Eighty-six children were diagnosed with 88 AM episodes. Of the AM episodes, 55 (63%) were in boys and 46 (52%) were in children younger than 2 years. All children were treated with parenteral antibiotics, and 82 (95%) underwent myringotomy on admission. Only 20 (23%) children underwent imaging studies, on the 6th median day. Of those, 20 (100%) children underwent CT scans, and 3 (15%) underwent additional MRI studies. The reasons for imaging studies included suspected subperiosteal abscess (9 of 20, 45%), lack of improvement despite adequate medical therapy (7, 35%) and focal neurological signs (4, 20%). Sixteen (16%) children underwent surgery for these pathologies: subperiosteal abscesses (n = 12,), jugular vein thrombosis (n = 2), perisinus empyema (n = 2), epidural abscess (n = 2) and Luc abscess (n = 1). CONCLUSIONS: Most children presenting with AM can be diagnosed clinically and do well with intravenous antibiotics and myringotomy. CT and MRI imaging should be reserved for children with suspected AM-related intracranial complications.