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Introduction: Universal newborn hearing screening has been successfully implemented in many places around the world, and it is recommended that cases with risk factors for hearing loss be followed-up regardless of hearing screening results. However, there is a need for clarity regarding the recommended rate of follow-up and which tests should be performed. The aim of this study was to assess the audiologic follow-up program for the group with risk factors. Method: Our retrospective study involved children of various ages with a risk factor for hearing loss who passed the initial neonatal hearing test but were later diagnosed with hearing loss. Out of 113,708 children born at Hadassah University Medical Center during the years 2013–2021, 6763 were at risk of hearing loss, and their follow-up audiologic test results were studied. Results: Audiologic testing including ABR, OAE, tympanometry and behavioral audiometry was performed in 1534 of 6763 (23%) of the risk factor group that returned to the hospital. In total, 73 children (4.7%) were diagnosed with hearing loss, 54 of whom failed the initial screening and 19 who had passed it. Further examination of the children that passed the initial screening and were later diagnosed with a hearing loss revealed that four cases had been missed in screening (one familial mild hearing loss, one familial progressive loss, one premature infant with a high tone loss, and one NICU graduate with CNS involvement). Another nine cases had late-onset hearing loss (three meningitis, five CMV, and one with a mitochondrial disease). An additional six cases were diagnosed late, and the age of onset of the hearing loss was unknown (two intubated, two with hydrocephalus, one with Cerebral Palsy, and one with general developmental delay). Conclusions: These results reveal the importance of implementing a refined protocol for monitoring hearing in the high-risk group of children that pass neonatal hearing screening with respect to which hearing tests should be conducted, at what age, and the duration of follow-up. Also, barriers to follow-up must be dealt with, and parents should be more involved in the monitoring process. [ABSTRACT FROM AUTHOR]

Antibody affinity maturation occurs in secondary lymphoid organs within germinal centers (GCs). At these sites, B cells mutate their antibody-encoding genes in the dark zone, followed by preferential selection of the high-affinity variants in the light zone by T cells. The strength of the T cell–derived selection signals is proportional to the B cell receptor affinity and to the magnitude of subsequent Myc expression. However, because the lifetime of Myc mRNA and its corresponding protein is very short, it remains unclear how T cells induce sustained Myc levels in positively selected B cells. Here, by direct visualization of mRNA and active transcription sites in situ, we found that an increase in transcriptional bursts promotes Myc expression during B cell positive selection in GCs. Elevated T cell help signals predominantly enhance the percentage of cells expressing Myc in GCs as opposed to augmenting the quantity of Myc transcripts per individual cell. Visualization of transcription start sites in situ revealed that T cell help promotes an increase in the frequency of transcriptional bursts at the Myc locus in GC B cells located primarily in the LZ apical rim. Thus, the rise in Myc, which governs positive selection of B cells in GCs, reflects an integration of transcriptional activity over time rather than an accumulation of transcripts at a specific time point. Editor's summary: After positive selection by T cells in the germinal center (GC) light zone, GC B cells express MYC that activates downstream cell cycle and metabolic gene programs. The half-life of MYC is short, and it is unclear how Myc accumulates in GC B cells to determine their fate. Kagan Ben Tikva et al. used a single-molecule fluorescence in situ hybridization (smFISH) approach to visualize the dynamics of Myc mRNA transcription in murine GC B cells receiving varying degrees of T cell help. T cell–derived signals enhanced the frequency of Myc transcriptional bursts in GC B cells rather than the abundance of transcripts per cell at a single time point, indicating that Myc expression in positively selected B cells is integrated over time. —Hannah Isles [ABSTRACT FROM AUTHOR]

Background Inherited retinal diseases (IRDs) include a range of vision loss conditions caused by variants in different genes. The clinical and genetic heterogeneity make identification of the genetic cause challenging. Here, a cohort of 491 unsolved cases from our cohort of Israeli and Palestinian families with IRDs underwent whole exome sequencing (WES), including detection of CNVs as well as single nucleotide variants (SNVs). Methods All participants underwent clinical examinations. Following WES on DNA samples by 3 billion, initial SNV analysis was performed by 3 billion and SNV and CNV analysis by Franklin Genoox. The CNVs indicated by the programme were confirmed by PCR followed by gel electrophoresis. Results WES of 491 IRD cases revealed the genetic cause of disease in 51% of cases, of which 11% were due wholly or in part to CNVs. In two cases, we clarified previously incorrect or unclear clinical diagnoses. This analysis also identified ESRRB and DNM1 as potential novel genes. Conclusion This analysis is the most extensive one to include CNVs to examine IRD causing genes in the Israeli and Palestinian populations. It has allowed us to identify the causative variant of many patients with IRDs including ones with unclear diagnoses and potential novel genes. [ABSTRACT FROM AUTHOR]

Idiopathic sudden sensorineural hearing loss (SSNHL) represents a frequently encountered otological entity, of various types and severity, with an array of associated symptoms including vertigo. This is a devastating life-changing condition with a blurry prognosis. The objective of this study was to determine the clinical association of vestibular impairment by electronystagmography (ENG) and caloric tests, and their ability to predict prognosis. An observational, crossectional study was carried out amongst patients admitted with SSNHL. Each consenting patient had an audiometry test performed on admission as well as ENG and caloric tests. Treatment included oral steroids and carbogen with intratympanic steroids used only as salvage treatment. Follow-up was completed after 6 months when hearing gains were evaluated. Finally, an association was sought between the rate of recovery and ENG and caloric test results. Of 35 patients included, marked recovery was seen in patients without vertigo when compared to those with vertigo (p=0.003). A statistically significant association was found between the presence of vertigo and hearing deterioration (p=0.008). More so, normal electronystagmography results were associated with marked recovery (p=0.04). The vestibular end organs are both subjectively and objectively affected in SSNHL as demonstrated by the abnormal ENG and caloric tests in our study despite the small sample size. Concomitant vestibular involvement carries poorer prognosis and routine identification may help foresee the recovery of patients with SSNHL and as such, aid in patient counseling. ENG and caloric tests are easily available and may be recommended for all patients with SSNHL. [ABSTRACT FROM AUTHOR]

The aim of the study was to develop a sustained-release varnish (SRV) containing mometasone furoate (MMF) for sinonasal stents (SNS) to reduce mucosa inflammation in the sinonasal cavity. The SNS' segments coated with SRV-MMF or an SRV-placebo were incubated daily in a fresh DMEM at 37 °C for 20 days. The immunosuppressive activity of the collected DMEM supernatants was tested on the ability of mouse RAW 264.7 macrophages to secrete the cytokines' tumor necrosis factor α (TNFα) and interleukin (IL)-10 and IL-6 in response to lipopolysaccharide (LPS). The cytokine levels were determined by respective Enzyme-Linked Immunosorbent Assays (ELISAs). We found that the daily amount of MMF released from the coated SNS was sufficient to significantly inhibit LPS-induced IL-6 and IL-10 secretion from the macrophages up to days 14 and 17, respectively. SRV-MMF had, however, only a mild inhibitory effect on LPS-induced TNFα secretion as compared to the SRV-placebo-coated SNS. In conclusion, the coating of SNS with SRV-MMF provides a sustained delivery of MMF for at least 2 weeks, maintaining a level sufficient for inhibiting pro-inflammatory cytokine release. This technological platform is, therefore, expected to provide anti-inflammatory benefits during the postoperative healing period and may play a significant role in the future treatment of chronic rhinosinusitis. [ABSTRACT FROM AUTHOR]

Objective: Hearing abnormalities frequently occur in Human Immunodeficiency Virus (HIV) infected individuals. Both conductive and uni- or bilateral sensorineural hearing loss (SNHL) have been described along with other audiological and vestibular symptoms such as tinnitus, vertigo and balance disturbances. While frequent middle ear infections may explain impairment of peripheral hearing abilities, the exact etiology of cochlear, and central auditory processing deficits still remains unclear. Direct effects of HIV, opportunistic infections, ototoxic side effects of antiretroviral therapy (ART), and immunologic responses to the central nervous system involving the auditory pathway have been proposed. We aim to review the audiological profile in HIV infected adults related to the effects of HIV and HAART on the inner ear structures. Methods: We present a review of the literature on cases of HIV related SNHL in adult patients and studies conducted to investigate audiometric changes in such patients. Data on presentation, diagnosis and pathophysiology were reviewed. Results: Sensorineural hearing loss in the higher frequencies is a common form of hearing loss in HIV infected individuals throughout disease progression, along with decreased otoacoustic emission (OAE) responses, increased PTA hearing thresholds and prolonged latencies for auditory brainstem responses (ABR). Conclusion: HIV affects all stages of auditory perception in a way similar to accelerated aging of the auditory system. And we postulate that synaptic loss may be the first step, followed by cochlear damage and central pathology as the virus remains present in all the structures of the auditory pathway causing local inflammation and degeneration. Evaluation of hearing function among all patients diagnosed with HIV infection seems to be an accepted approach; it should include OAE testing, pure tone and speech audiometry, speech-in-noise tests and ABR measurements. [ABSTRACT FROM AUTHOR]

Introduction Acute carotid blowout syndrome (aCBS) is a severe complication of head and neck cancer (HNC). It can be defined as a rupture of the extracranial carotid arteries, or one of their branches, that causes life-threatening hemorrhage, and which nowadays can be treated with urgent endovascular intervention. Objective We retrospectively evaluate the endovascular management of aCBS and its outcome in years of survival. Methods Retrospectively, we describe our experience with endovascular control of aCBS in patients treated for HNC. We review the characteristics, pathology, endovascular treatment and morbidity and assess the gain in life years. Results Nine individuals were included in this study. Four patients had been previously diagnosed with laryngeal squamous cell carcinoma (SCC), one with paranasal SCC, one with nasopharyngeal carcinoma and three with oral or maxillary adenocarcinoma. All subjects underwent radiotherapy and surgical excision to different extents. Twelve endovascular procedures were performed for injuries to the internal carotid artery (n = 3; 25%), external carotid artery (n = 1; 7%) or one of their branches (n = 8; 67%). Deconstructive methods were used in nine procedures, and three procedures were mainly reconstructive with deployment of covered stents. Total control of bleeding was achieved in all individuals with no intraprocedural complications. Conclusion Endovascular therapy is an effective alternative for the management of exsanguinating CBS. In our series, this palliative therapy increased the overall patient survival by an estimated 9 months. [ABSTRACT FROM AUTHOR]

Cogan's syndrome (CS) is a rare autoimmune disorder characterized by audiovestibular dysfunction and ocular inflammation. Currently, there is no specific serum autoantibody used in the diagnostic workup of CS. Treatment is based on immunosuppressive agents, mainly corticosteroids as first-line choice. Recently, novel therapeutic modalities in CS have emerged. These include tumor necrosis factor-α inhibitors and other biologicals. Despite medical treatment, hearing loss may progress to irreversible bilateral profound SNHL in approximately half of CS patients resulting in candidacy for cochlear implantation (CI). Due to the inflammatory nature of the disease that is causing endosteal reaction with partial obliteration or complete neoossification of the intracochlear ducts, early CI is recommended. CI provides excellent and stable hearing rehabilitation with high score of word and sentence recognition. In this review, we will discuss different aspects of CS including clinical presentation, diagnosis, treatment, and future directives. [ABSTRACT FROM AUTHOR]

The objective of this study was to describe the occurrence, clinical manifestations, audiometric findings, pathogenesis and approach to sensorineural hearing loss (SNHL) among patients diagnosed with vitiligo with a review of the literature. We present a systematic review of the literature on cases of SNHL in patients diagnosed with vitiligo and studies conducted to investigate audiometric changes in such patients. Data on presentation, diagnosis and medical approach were reviewed. A total of 21 studies and case reports revealed at least 102 cases of SNHL in patients diagnosed with vitiligo. Arguments for a common causative etiology related to melanocyte function were mentioned in most of the literature. Evaluation of hearing function among all patients diagnosed with vitiligo seems to be an accepted approach; it should include audiometry, otoacoustic emissions (OAE) and ABR measurements. Extra precaution to prevent ototoxic or noise-induced hearing loss is strongly recommended. Further research is needed to better understand its pathogenesis. [ABSTRACT FROM AUTHOR]

Objects: Dizziness makes up a diagnostic and treatment challenge. The diagnostic accuracy of the medical history and vestibular physical examination in cases of vestibular symptoms is not clear. The aim of this study is to determine the association between vestibular physical examination, vestibular questionnaires, and electronystagmography (ENG) test in patients with vestibular symptoms. Methods: This is a prospective study of 135 adults with vestibular symptoms. The subjects underwent targeted physical examination and filled vestibular questionnaires, including the Dizziness Handicap Inventory (DHI), before ENG testing. The results of the physical examination and questionnaires were compared with the final ENG findings. Results: Of patients who had normal ENG results, 32.1% (17/52) showed abnormal physical examination, and 48.8% (40/82) of the patient who had normal physical examination showed abnormal ENG results (P = .46). Among patients with severe disability by DHI, 46.4% (13/28) had an abnormal ENG, and 42.9% (12/28) had a normal ENG (P = .39). Conclusions: This study did not demonstrate association between vestibular physical examination, vestibular questionnaires, and ENG results. Although history (augmented by questionnaires) and physical examination are the initial steps in the evaluation of vertigo, the current study suggests that they should be complemented by objective testing for evaluation of inner ear origin of vertigo. [ABSTRACT FROM AUTHOR]

Background Endoscopic anterior skull-base surgery has been previously suggested to cause a significant deterioration in olfactory function. Given the impact on quality of life, the objective of this study was to determine the effect of a unilateral middle-turbinate-sacrificing approach on olfactory function and sinonasal outcome. Methods Prospective cohort study comparing olfactory and sinonasal outcomes pre- and post-transsphenoidal skull-base surgery. Olfaction was the primary outcome and was measured prospectively using the University of Pennsylvania Smell Identification Test (SIT). Sinonasal symptoms were assessed subjectively via sinonasal-specific questions from the 22-item Sino-Nasal Outcome Test (SNOT-22), and objectively via the Lund-Kennedy Endoscopic Scoring system (LKES). Results Twenty-two patients met study inclusion criteria and completed all data acquisition. The mean preoperative SIT score was 34.8 and the mean postoperative SIT value was 35.1 ( p = 0.37). The average change in score (delta) was an increase of 0.3, with changes ranging from −3 to +4. When examined categorically, 91% of patients maintained their preoperative olfactory function classification. There was no significant difference in mean pre- and postoperative symptom scores. A small increase in the LKES was noted, from a mean of 0.6 to 2.5 ( p = 0.001) in the early postoperative period. Conclusion Olfactory function, as measured by the SIT test, was preserved with a middle-turbinate-sacrificing skull-base approach. Subjective sinonasal symptom scores were unaffected, but a slight worsening of objective endoscopic appearance was noted. [ABSTRACT FROM AUTHOR]

We used a combined approach of homozygosity mapping and whole exome sequencing (WES) to search for the genetic cause of autosomal recessive retinitis pigmentosa (arRP) in families of Yemenite Jewish origin. Homozygosity mapping of two arRP Yemenite Jewish families revealed a few homozygous regions. A subsequent WES analysis of the two index cases revealed a shared homozygous novel nucleotide deletion (c.1220delG) leading to a frameshift (p.Gly407Glufs"56) in an alternative exon (#15) of USH1C. Screening of additional Yemenite Jewish patients revealed a total of 16 homozygous RP patients (with a carrier frequency of 0.008 in controls). Funduscopic and electroretinography findings were within the spectrum of typical RP. While other USH1C mutations usually cause Usher type I (including RP, vestibular dysfunction and congenital deafness), audiometric screening of 10 patients who are homozygous for c.1220delG revealed that patients under 40 years of age had normal hearing while older patients showed mild to severe high tone sensorineural hearing loss. This is the first report of a mutation in a known USH1 gene that causes late onset rather than congenital sensorineural hearing loss. The c.1220delG mutation of USH1C accounts for 23% of RP among Yemenite Jewish patients in our cohort. [ABSTRACT FROM AUTHOR]

Objectives/Hypothesis: Turban pin aspiration syndrome is a new clinical entity afflicting young Islamic girls wearing a turban.The goal of this study was to present our experience in diagnosis and treatment of this new entity, define its clinical and epidemiologic features, and shed a new light on the role of fashion in the increased incidence. Study Design: A retrospective study in a tertiary university hospital. Methods: Review of clinical parameters and epidemiologic features of 26 patients diagnosed with turban pin aspiration syndrome admitted to the Hadassah-Hebrew University Hospitals in Jerusalem from 1990 to 2010. Results: All patients were Muslim females with an average age of 16 years. In all cases, the history was positive for accidental aspiration. Most of the pins were located in the trachea (42%). In 20 cases, the pins were extracted by rigid bronchoscopy without major complications. Fluoroscopy-assisted rigid bronchoscopy was used successfully in three cases. In one case, the object was self-ejected by coughing before the bronchoscopy, and two patients were referred to the chest unit for thoracotomy. Conclusions: Clinicians should be aware of this distinct form of foreign body aspiration, its method of diagnosis, and extraction techniques. A cultural investigation showed a difference in the turban-fastening technique of young girls as compared with their mothers. Removal by rigid bronchoscopy is a safe method with a high success rate and should be considered as the preferred extraction method of choice. Laryngoscope, 2012 [ABSTRACT FROM AUTHOR]