A Study of Effect of Consanguinity on Cochlear Morphology in Patients with Congenital Bilateral Profound Sensorineural Hearing Loss

Abstract

Consanguinity has been considered as one of the risk factors predisposing to the development of congenital hearing loss. Effect of consanguinity on cochlear morphology has been subject of speculation, though many studies have provided insight into functional aspect of cochlea. This study was conducted to know the effect of consanguinity on cochlear morphology, if any. A prospective, observational study, including prelingually deaf children with bilateral profound sensorineural hearing loss who are registered as candidates for cochlear implantation at a tertiary care centre, was conducted. Seven children born out of consanguineous marriages and having bilateral congenital sensorineural hearing loss were imaged for their inner ears by MRI and various cochlear measurements were compared with that of seven control children born out of non-consanguineous marriages and who had congenital bilateral sensorineural hearing deafness. No statistically significant differences were noticed in the measurements of mean cochlear length, cross sectional diameter of cochlea at apex, middle turn and at basal turns; between children born of consanguineous and non-consanguineous marriages. Study revealed normal cochlear morphology in all the children born out of consanguineous marriages. Consanguinity, as a risk factor for development of sensorineural hearing loss, may not result in gross structural anomaly of cochlea. The genetic testing of these patients need not be extensive and can be limited to selective screening of genes responsible for functioning of cochlea rather than its anatomical development.

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Staphylococcus Aureus V8 protease disrupts the integrity of the airway epithelial barrier and impairs IL-6 production in vitro

Objective

Staphylococcus aureus (S. aureus) infection is known to contribute to the severity and recalcitrance of chronic rhinosinusitis (CRS), and its secreted products have been shown to alter the airway barrier. Extracellular proteases secreted by S. aureus are thought to be important in epithelial infection and immune evasion; however, their effect on airway mucosal barrier function is not known.

Methods

To investigate the impact of extracellular proteases on airway epithelial integrity, the purified S. aureus proteases V8 protease, Staphopain A, Staphopain B, Exfoliative toxin A, and serine protease-like A–F were applied to human nasal epithelial cell air–liquid interface (HNEC-ALI) cultures. Transepithelial electrical resistance (TEER), permeability (Papp) measurements, and immuno-localization of the tight junction proteins claudin-1 and ZO-1 were used to assess barrier integrity. Effects of the proteases on inflammation and cell viability were measured using interleukin-6 (IL-6) ELISA and a lactate dehydrogenase assay.

Results

Application of V8 protease to HNEC-ALI cultures caused a significant concentration and time-dependent decrease in TEER (22.67%, P < 0.0001), a reciprocal Papp increase (20.14-fold, P < 0.05), and a discontinuous ZO-1 immuno-localization compared to control. IL-6 production was significantly reduced in V8 protease-treated cells (153.5 pg/mL, P = 0.0069) compared to control (548.3 pg/mL), whereas no difference in cell viability was observed.

Conclusion

S. aureus V8 protease causes dysfunction of mucosal barrier structure and function indicative of a leaky barrier. A reduction in IL-6 levels suggests that the mucosal immunity is impaired by this protease and thus has the potential to contribute to CRS recalcitrance.

Level of Evidence

NA. Laryngoscope, 2017

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Complications After Endoscopic Laryngopharyngeal Surgery

Objectives/Hypothesis

Endoscopic laryngopharyngeal surgery (ELPS), a hybrid of head and neck surgery and gastrointestinal endoscopic treatment, has been attracting attention as a new therapeutic modality for superficial laryngopharyngeal cancers. Although this technique is less invasive than traditional open procedures, some complications including postoperative bleeding, subcutaneous emphysema, or aspiration pneumonia can occur after treatment. The purpose of this study was to investigate the complications associated with ELPS to better understand the indications for this procedure.

Study Design

Retrospective medical chart review.

Methods

One hundred five patients with 159 laryngeal or pharyngeal lesions were treated with ELPS between August 2009 and September 2015 at Kyoto University Hospital. In total, 147 resections were performed, and complications after the resections were reviewed.

Results

Of the 147 resections, postoperative bleeding, subcutaneous emphysema, and aspiration pneumonia were observed in 10, 17, and 10 cases, respectively. All cases with postoperative bleeding and aspiration pneumonia occurred in patients over 65 years of age. A history of taking anticoagulation/platelet medications, and macroscopic 0–IIa lesions were shown to correlate with postoperative bleeding after ELPS. Resection of lesions in the pyriform sinus was found to be associated with subcutaneous emphysema.

Conclusions

All complications after ELPS were safely managed. A history of taking anticoagulation/platelet medications and macroscopic 0–IIa lesions were identified as risk factors for postoperative bleeding, whereas resection of pyriform sinus lesions was found to be a risk factor for subcutaneous emphysema. These risk factors should be carefully considered when treating pharyngeal and laryngeal lesions by ELPS.

Level of Evidence

4 Laryngoscope, 2017

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Propionibacterium acnes as an emerging pathogen in skull base osteomyelitis: A case series

Skull base osteomyelitis (SBO) is recognized as a potentially life-threatening infection that has been classically attributed to Pseudomonas aeruginosa. However, growing data shows that the bacteriology of SBO is changing. Traditionally thought of as commensal bacterium, P. acnes has been implicated as a serious pathogen in other specialties. Building on a previous case report from our institution, we have identified three patients with SBO who are culture-positive for Propionibacterium acnes as a single isolate. Herein, we describe the clinical history of the three patients, along with treatment, present outcome, and review of the literature. Laryngoscope, 2017

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Epidemiology of keratinocyte carcinomas after organ transplantation

Summary

Keratinocyte carcinoma (KC) is the most common type of cancer among white populations, but it is even more common among solid organ transplant recipients (OTRs). The most frequent histological type of KC among OTRs is cutaneous squamous cell carcinoma (cSCC), followed by basal cell carcinoma, although the reverse is seen in the general population. Metastatic cSCCs are more frequent, and mortality is increased compared with immunocompetent populations. There is strong evidence that the risk of KC among OTRs rises with increasing time after transplantation and older age at transplantation, and that KC is enhanced in those with sun-damaged skin. This evidence suggests that accelerated accumulation of genetic damage from several sources leads to excess KC in OTRs. We describe international variation in KC and focus on trends in immunosuppressive regimens, the role of ultraviolet susceptibility and exposure, and the contribution of genetics to tumour development. Further epidemiological studies are needed to address gaps in our understanding of the mediation of excess KC by immunosuppressive drugs, viral infection, genetic susceptibility, timing of relevant ultraviolet exposure or some combination of these factors.

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Peristomal psoriasis: an intriguing new subset of psoriasis

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Delusional infestation caused by pramipexole

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