Biologics: The Good, the Bad and the Future of Ear, Nose and Throat.

Sensorineural hearing loss and chronic rhinosinusitis with nasal polyps affect a large proportion of the UK population. However, treatment with high efficacy to manage these pathologies remains to be found. With the development of biologic drug treatments, there is hope that this will improve quality of life for patients affected by these conditions. A literature review was carried out using PubMed. Studies that investigated the use of biologic drug treatment in chronic rhinosinusitis with nasal polyps, head and neck squamous cell carcinoma and sensorineural hearing loss were included in this paper. Studies have demonstrated that cost is quite possibly the greatest limiting factor for the licencing of these novel drugs by the National Institute for Health and Care Excellence. Biologics are currently approved in the management of squamous cell carcinoma of the head and neck for curative and palliative management. Although sensorineural hearing loss and chronic rhinosinusitis with nasal polyps are not life-threatening conditions, they do have a great effect upon a patients' quality of life. Current literature has identified several drug targets for biologics to be developed. Biologics, used off-licence, have been demonstrated to be effective in the management of the ear, nose and throat pathologies described. Although the off-licence use of biologics have been found to be beneficial, larger randomised control trials will be required to demonstrate the true efficacy of these drugs and allow for approval by the National Institute for Health and Care Excellence. Cost will become less of a limiting factor as time progresses as biosimilars will be able to be produced once drug patents expire, thus making the market more competitive, driving prices down.

Evidence for the Use of Mucus Swabs to Detect Renibacterium salmoninarum in Brook Trout.

Efforts to advance fish health diagnostics have been highlighted in many studies to improve the detection of pathogens in aquaculture facilities and wild fish populations. Typically, the detection of a pathogen has required sacrificing fish; however, many hatcheries have valuable and sometimes irreplaceable broodstocks, and lethal sampling is undesirable. Therefore, the development of non-lethal detection methods is a high priority. The goal of our study was to compare non-lethal sampling methods with standardized lethal kidney tissue sampling that is used to detect Renibacterium salmoninarum infections in salmonids. We collected anal, buccal, and mucus swabs (non-lethal qPCR) and kidney tissue samples (lethal DFAT) from 72 adult brook trout (Salvelinus fontinalis) reared at the Colorado Parks and Wildlife Pitkin Brood Unit and tested each sample to assess R. salmoninarum infections. Standard kidney tissue detected R. salmoninarum 1.59 times more often than mucus swabs, compared to 10.43 and 13.16 times more often than buccal or anal swabs, respectively, indicating mucus swabs were the most effective and may be a useful non-lethal method. Our study highlights the potential of non-lethal mucus swabs to sample for R. salmoninarum and suggests future studies are needed to refine this technique for use in aquaculture facilities and wild populations of inland salmonids.

Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.

Random mating in the general population tends to limit the occurrence of homozygous and compound heterozygous forms of dominant hereditary disorders. Certain phenotypes, the most recognized being skeletal dysplasias associated with short stature, lead to cultural interaction and assortative mating. To this well-known example, may be added deafness which brings together individuals with a variety of deafness genotypes, some being dominant. Waardenburg syndrome is one such autosomal dominant disorder in which affected individuals may interact culturally because of deafness. Biallelic genetic alterations for two Waardenburg genes, PAX3 and MITF have been previously recognized. Herein, we report biallelic deletions in SOX10, a gene associated with Waardenburg syndromes type II and IV. The affected fetuses have a severe phenotype with a lack of fetal movement resulting in four-limb arthrogryposis and absence of palmar and plantar creases, white hair, dystopia canthorum, and in one case cleft palate and in the other a cardiac malformation.

Genetic Counseling for Alcohol Addiction: Assessing Perceptions and Potential Utility in Individuals with Lived Experience and Their Family Members.

Though addictions to substances including alcohol are highly heritable, there have been no studies regarding the possible applicability of genetic counseling to this set of conditions. Adults (≥18 years old) with a personal and/or family history of alcohol addiction were recruited to participate in an online survey-based study comprising 43 questions about beliefs/concern about recurrence risk and etiology of alcohol addiction and its impact on childbearing decisions, and perceptions of potential utility of genetic counseling for alcohol addiction. We applied primarily descriptive statistics, but also tested the hypotheses that perceiving genetic counseling to be useful would be associated with: 1) increasing importance attributed to genetics in the etiology of alcohol addiction, and 2) greater concern about recurrence of alcohol addiction (in self and/or children). Overall, the 113 participants recognized the multifactorial nature of alcohol addiction but reported a wide range of estimated recurrence risks for first-degree relatives. Overall, 62% perceived genetic counseling for alcohol addiction to be potentially beneficial. Participants were more likely to perceive a benefit from genetic counseling if they were concerned about recurrence for themselves (p = .021) or perceived genetics to be etiologically important in alcohol addiction (p = .024). Future studies are warranted to evaluate the outcomes of genetic counseling for addictions with respect to patient understanding, lifestyle modifications and psychological adaptation.

Ventilación mecánica domiciliaria con doble nivel de presión positiva: Experiencia de un hospital de Buenos Aires / Home Mechanical Ventilation with Bilevel Positive Pressure. Experience from a Buenos Aires Hospital

Introducción: La ventilación domiciliaria con equipos de doble nivel de presión positiva (DNPP) es un tratamiento de uso cada vez más frecuente en nuestro medio. Objetivo: Analizar la situación actual de los pacientes con ventilación domiciliaria del Hospital Churruca. Sus características demográficas, clínicas, de uso del ventilador y relacionadas con la prestación del servicio en domicilio. Materiales y métodos: Se localizó a los pacientes a los que se les prescribió un equipo entre el 2000 y 2013. Se citaron a control para completar y actualizar datos referidos al uso de la ventilación. Para la clasificación de patologías respiratorias se utilizó la metodología del estudio Eurovent. Se entregó un cuestionario para valorar aspectos relacionados con el acceso al servicio técnico y controles domiciliarios. Resultados: Se analizaron 43 pacientes. Sexo femenino 58%, índice masa corporal 37,52 ±11,5 kg/m2. Dentro de las patologías el 58% causas pulmonares, 26% torácicas, 14% neuromusculares. El 79% fueron localizados y el 21% fueron considerados perdidos. Se objetivó uso actual en 62%, abandono en el 26% y 12% fallecimientos. En el grupo Torácicas el abandono fue del 50%.El 56% de los encuestados refirió conocer la manera de acceder al servicio técnico. Al 50% nunca se le realizó un control del equipo. Conclusiones: Existe una mayoría de sexo femenino y una prevalencia alta de obesidad. La mayor parte de los pacientes ventilados fueron por causas pulmonares y con elevada tasa de abandono global, sobretodo en el grupo torácicas. Quedó en evidencia un escaso control de los equipos en el domicilio.

Introduction: Mechanical ventilation equipment for home use is an increasingly common treatment in clinical practice. Objective: Analyze the current situation of patients attending Churruca Hospital with home mechanical ventilation. Describe demographic and clinical characteristics, related to ventilator use and to provision of the home technical services. Materials and Methods: We identified the patients who were prescribed mechanical ventilation from 2000 to 2013. We invited them to come to the hospital to complete and update data about the ventilator use. The Eurovent methodology was used for the classification of respiratory diseases. A questionnaire was delivered to evaluate aspects related to health service access and home control. Results: 43 patients were analyzed; 58% were females, the body mass index was 37.52 ± 11.5 kg/m2. Respiratory diseases: Lung pathologies, 58%; Thoracic pathologies, 26%; Neuromuscular diseases, 14%. 79% of patients were located and 21% were considered lost of sight. 62% currently used the equipment, 26% had stopped using the ventilator and 12% of patients had died. Dropout was registered in 50% of the thoracic group. Among all located patients, 56% reported knowing how to access to home technical service and 50% had never had an equipment control at home. Conclusions: We observed both a female predominance and a high prevalence of obesity among the patients included in the study. Pulmonary diseases were the major reason for prescription of mechanical ventilation at home .We observed a high default rate, especially in the thoracic pathology group. There were few equipment controls at home.

Ventilación mecánica domiciliaria con doble nivel de presión positiva: Experiencia de un hospital de Buenos Aires

Introducción: La ventilación domiciliaria con equipos de doble nivel de presión positiva (DNPP) es un tratamiento de uso cada vez más frecuente en nuestro medio. Objetivo: Analizar la situación actual de los pacientes con ventilación domiciliaria del Hospital Churruca. Sus características demográficas, clínicas, de uso del ventilador y relacionadas con la prestación del servicio en domicilio. Materiales y métodos: Se localizó a los pacientes a los que se les prescribió un equipo entre el 2000 y 2013. Se citaron a control para completar y actualizar datos referidos al uso de la ventilación. Para la clasificación de patologías respiratorias se utilizó la metodología del estudio Eurovent. Se entregó un cuestionario para valorar aspectos relacionados con el acceso al servicio técnico y controles domiciliarios. Resultados: Se analizaron 43 pacientes. Sexo femenino 58%, índice masa corporal 37,52 ±11,5 kg/m2. Dentro de las patologías el 58% causas pulmonares, 26% torácicas, 14% neuromusculares. El 79% fueron localizados y el 21% fueron considerados perdidos. Se objetivó uso actual en 62%, abandono en el 26% y 12% fallecimientos. En el grupo Torácicas el abandono fue del 50%.El 56% de los encuestados refirió conocer la manera de acceder al servicio técnico. Al 50% nunca se le realizó un control del equipo. Conclusiones: Existe una mayoría de sexo femenino y una prevalencia alta de obesidad. La mayor parte de los pacientes ventilados fueron por causas pulmonares y con elevada tasa de abandono global, sobretodo en el grupo torácicas. Quedó en evidencia un escaso control de los equipos en el domicilio.(AU)

Introduction: Mechanical ventilation equipment for home use is an increasingly common treatment in clinical practice. Objective: Analyze the current situation of patients attending Churruca Hospital with home mechanical ventilation. Describe demographic and clinical characteristics, related to ventilator use and to provision of the home technical services. Materials and Methods: We identified the patients who were prescribed mechanical ventilation from 2000 to 2013. We invited them to come to the hospital to complete and update data about the ventilator use. The Eurovent methodology was used for the classification of respiratory diseases. A questionnaire was delivered to evaluate aspects related to health service access and home control. Results: 43 patients were analyzed; 58% were females, the body mass index was 37.52 ± 11.5 kg/m2. Respiratory diseases: Lung pathologies, 58%; Thoracic pathologies, 26%; Neuromuscular diseases, 14%. 79% of patients were located and 21% were considered lost of sight. 62% currently used the equipment, 26% had stopped using the ventilator and 12% of patients had died. Dropout was registered in 50% of the thoracic group. Among all located patients, 56% reported knowing how to access to home technical service and 50% had never had an equipment control at home. Conclusions: We observed both a female predominance and a high prevalence of obesity among the patients included in the study. Pulmonary diseases were the major reason for prescription of mechanical ventilation at home .We observed a high default rate, especially in the thoracic pathology group. There were few equipment controls at home.(AU)