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BackgroundInherited 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).MethodsAll 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.ResultsWES 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 ESRRBand DNM1as potential novel genes.ConclusionThis 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.

Objectives: In this study, we aimed to develop a novel, sustained release varnish (SRV) for voice prostheses (VP) releasing chlorhexidine (CHX), for the prevention of biofilm formation caused by the common oral bacteria Streptococcus mutanson VP surfaces. Methods: This study was performed in an in vitro model as a step towards future in vivo trials. VPs were coated with a SRV containing CHX (SRV-CHX) or SRV alone (placebo-SRV) that were daily exposed to S. mutans. The polymeric materials of SRV were composed of ethylcellulose and PEG-400. Biofilm formation was assessed by DNA quantification (qPCR), crystal violet staining, confocal laser scanning microscopy (CLSM), scanning electron microscopy (SEM), and kinetics experiments. Results: The amount of DNA in the biofilms formed by S. mutanson VP surfaces coated once with SRV-CHX (1.024 ± 0.218 ng DNA/piece) was 58.5 ± 8.8% lower than that of placebo-SRV-coated VPs (2.465 ± 0.198 ng DNA/piece) after a 48-h exposure to S. mutans(p= 0.038). Reduced biofilm mass on SRV-CHX-coated VPs was visually confirmed by CLSM and SEM. CV staining of SRV-CHX single-coated VPs that have been exposed to S. mutansnine times showed a 98.1 ± 0.2% reduction in biofilm mass compared to placebo-SRV-coated VPs (p= 0.003). Kinetic experiments revealed that SRV-CHX triple-coated VPs could delay bacterial growth for 23 days. Conclusions: Coating VPs with SRV-CHX has an inhibitory effect on biofilm formation and prevents bacterial growth in their vicinities. This study is a proof-of-principle that paves the way for developing new clinical means for reducing both VPs’ bacterial biofilm formation and device failure.

Background Irradiation, which affects cytokine secretion, is used to treat cancer patients. Cytokine levels have correlations to disease parameters, serving as biomarkers for patients. We aim to explore the effect of irradiation on cytokine production both in vitro (using lymphocytes from healthy donors) and in vivo (using serum levels of head and neck cancer patients following irradiation) and correlating them to mucositis severity/need for percutaneous endoscopic gastroscopy (PEG) tube installation.Methods Cytokine production by cultured lymphocytes from healthy donors, in vitro, following irradiation of 5 or 10 Gy. In addition, blood from 23 patients with head and neck cancers, irradiated by 60–72G in vivo, were assessed for inflammatory cytokines (tumor necrosis factor (TNF)α, interleukin (IL)-6, IL-8, IL-18), the anti-inflammatory cytokine IL-10, and the general marker sIL-2R. Following radiation, selected patients who were developing mucositis were treated by PEG tube installation. Changes in cytokine levels were studied as predictive biomarkers of response to therapy/PEG tube installation. Cytokine production levels were measured using ELISAs kits.Results Irradiation decreased the levels of all tested cytokines, most notably IL-6 and IL-8, proportional to irradiation dose. In patients, increases in cytokine levels, correlated with mucositis severity and potentially the need for PEG tube installation.Conclusions Irradiation decreased the levels of all cytokines of healthy lymphocytes in a dose-dependent manner, especially those of IL-6 and IL-8. This study shows a correlation between high and increasing levels of inflammatory cytokines, sIL-2R, plus radiation toxicity and the need for PEG. The reduction of cytokine levels after radiotherapy predicts that PEG will not be required. Thus, our study shows that cytokine changes are predictive biomarkers in head and neck cancer patients.

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.

Objectives:The purpose of this study was to define the clinicopathologic features and outcome of the oncocytic variant of papillary thyroid carcinoma (OVPTC) with a review of the literature.Methods:Twenty-three patients with OVPTC over a 10-year period were studied. Demographic, clinical, and histopathologic features and outcome data were analyzed retrospectively.Results:Seventeen women and 6 men, ages ranging from 20 to 76 years (95% confidence interval, 43.0 to 54.48), were studied. Cervical lymph node involvement was found in 43.4% of the patients. Most of the recurrences were associated with thyroid masses greater than 2 cm in diameter. Evaluation of the overall survival data by the Kaplan-Meier method revealed that most recurrences took place earlier than 30 months, and the majority of patients (74%) were well, with no evidence of disease, up to 78 months after the last treatment. All of the OVPTC cases presented as nonencapsulated tumors, and 78.2% demonstrated extrathyroid stromal invasion.Conclusions:OVPTC is a unique variant of papillary thyroid carcinoma that has distinctive clinicopathologic features. Since OVPTC is often associated with local invasion and may involve cervical lymph nodes, it may require more extensive surgery than classic papillary thyroid carcinoma.

Objectives/Hypothesis:Sinonasal invasive aspergillosis (IA) is an aggressive fungal infection with high mortality rates. It commonly develops in immunocompromised patients, often after bone marrow transplantation (BMT). Aggressive surgical debridement by an external approach has been considered a central element of treatment. We describe our experience in endoscopic management of IA in BMT patients in a retrospective study.

Objective:The objective of this study was to analyze the circumstance, demographic features, clinical findings, and complications of caustic ingestion in relation to the type and amount of caustic substance.

We review recent developments in the clinical course and imaging modalities for Susac's syndrome, a clinical triad consisting of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss.

This manuscript reports on our experience with purulent chondritis of the laryngeal cartilages (PCLC), an entity that has not yet been described. Three patients had a diagnosis of PCLC. The probable causes were relapsing polychondritis, a previous prolonged intubation, and an idiopathic cause. The patients suffered from hoarseness and inspiratory stridor for 1 to 3 months before diagnosis. None complained of pain in the neck. Laryngoscopy showed supraglottic edema. A computed tomography scan revealed abscess formation between the intact inner and outer perichondria of the thyroid cartilage. The treatment included rigid endoscopy, external incision and drainage, and prolonged medical therapy. The culture results were Staphylococcus aureus in the first 2 cases and Aspergillus fumigatus in the third. The second patient (in whom the cricoid cartilage was also affected) required emergency tracheotomy. The other 2 patients did not require airway intervention. The rarity of PCLC and the relatively mild symptoms require a high index of suspicion for its diagnosis.

The objective of this study was to describe the clinical manifestations; radiographic, audiometric, and retinal fluorescein angiography findings; pathogenesis and treatment of Susac syndrome with review of the literature.

Objectives/HypothesisConflicting data exist in the literature regarding the role of mitomycin in the prevention and treatment of laryngotracheal stenosis. The purpose of the study was to assess the value of mitomycin in preventing repeat stenosis after endoscopic dilation surgery of well‐established stenoses.

This study aimed to study the clinical and genetic aspects of solute carrier (SLC) genes in inherited retinal diseases (IRDs).

Skull base reconstruction presents a number of challenges from anatomical and functional perspectives. This is especially the case with large anterior skull base defects with compromised recipient beds from repeated infection, multiple surgeries, or previous radiation. The purpose of the study was to demonstrate the use of the titanium meshradial forearm free flap (RFFF) mesh sandwich for reconstruction of large anterior skull base defects with a poor recipient bed or excessive bony defect.

Thyroid carcinoma usually presents as an asymptomatic thyroid nodule. Thyroid cancer may show microscopic vascular invasion; however, internal jugular vein tumor thrombus is a rare complication of thyroid cancer. A unique case of internal jugular vein tumor thrombus associated with thyroid carcinoma is presented and discussed.