'This diagnosis can be extremely scary'.

'This diagnosis can be extremely scary'.

Nurs Stand. 2017 Jan 18;31(21):22-24

Authors: Newton-Snow T

Abstract
Neurofibromatosis type 2 (NF2) is a rare genetic disorder that occurs in an estimated one in 35,000 people. The condition is often life-limiting and involves tumours growing on the nervous system, typically on the hearing nerves, brain and spine. While the tumours are mainly benign, they can lead to hearing loss, deafness and problems with balance and mobility. Most patients will need surgery or other treatments for NF2-related brain or spinal cord tumours at some point in their lives.

PMID: 28097979 [PubMed - in process]

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'This diagnosis can be extremely scary'.

'This diagnosis can be extremely scary'.

Nurs Stand. 2017 Jan 18;31(21):22-24

Authors: Newton-Snow T

Abstract
Neurofibromatosis type 2 (NF2) is a rare genetic disorder that occurs in an estimated one in 35,000 people. The condition is often life-limiting and involves tumours growing on the nervous system, typically on the hearing nerves, brain and spine. While the tumours are mainly benign, they can lead to hearing loss, deafness and problems with balance and mobility. Most patients will need surgery or other treatments for NF2-related brain or spinal cord tumours at some point in their lives.

PMID: 28097979 [PubMed - in process]

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Sleep Apnea and Hearing Loss: Is There a Relationship?

Do you suffer from sleep apnea? Know someone who does? See patients who do? If you said "yes" to any of these questions, you might be interested in a soon-to-be-published article by Matsumura and colleagues titled Evaluation of Peripheral Auditory Pathways and Brainstem in Obstructive Sleep Apnea. 

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GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss.

Related Articles

GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss.

J Med Genet. 2017 Jan 17;:

Authors: Xing G, Yao J, Liu C, Wei Q, Qian X, Wu L, Lu Y, Cao X

Abstract
BACKGROUND: A substantial amount of nuclear genes have been identified to be implicated in genetic hearing loss, while X-linked hearing loss is genetically heterogeneous and relatively infrequent.
OBJECTIVE: To identify the causative gene mutation in a five-generation Chinese family with an X-linked recessive syndromic hearing loss (SHL).
METHODS: Targeted X-chromosome exome sequencing was conducted, and cosegregation analysis was performed in the members of the affected family. The in silico and expression studies were also performed.
RESULTS: A 2-bp missense mutation (c.1717_1718GC>AA, p.A573N) in the G protein-coupled receptor associated sorting protein 2 (GPRASP2) gene was identified in four hemizygous male patients and two heterozygous female carriers, which was cosegregated with the clinical phenotypes in this family. In silico analysis supported that this gene mutation is functionally deleterious, and it was detected that homologous Gprasp2 was highly expressed in multiple structures of the mouse cochlea, which suggested that GPRASP2 might be the genetic cause for the described disease phenotypes.
CONCLUSIONS: This study presented a novel X-linked SHL combined with unique and unrecognised clinical features, and a missense variation of GPRASP2 was first identified to be implicated in X-linked SHL.

PMID: 28096187 [PubMed - as supplied by publisher]

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Vocal Symptoms and Voice Quality in Children With Allergy and Asthma

Publication date: Available online 17 January 2017
Source:Journal of Voice
Author(s): Emma Kallvik, Johannes Savolainen, Susanna Simberg
ObjectivesThe background for dysphonia is multifactorial, and health-related factors have been listed among the factors affecting voice. In previous studies with adult participants, allergy and asthma have been indicated to have a connection to vocal symptoms. With the majority of previous research being studies involving adult participants, it is unclear what the effect of allergy and asthma on children's voices is. The aim of this study was to investigate if allergies and asthma are risk factors for having vocal symptoms.MethodsThe material was collected through paper questionnaires distributed to the parents of new pediatric patients at an allergy clinic. The participants were 108 children aged 9 months to 17 years and 1 month.ResultsOf the children whose parents had filled in the questions on vocal symptoms, 18.2% (n = 18) had frequently occurring vocal symptoms, which was defined as having two or more vocal symptoms every week or more often. The most common vocal symptoms were throat clearing and coughing. There was a significant connection between inhalant allergy and having frequently occurring vocal symptoms. The connection between cough that lasted for more than 4 weeks and having frequently occurring vocal symptoms was also significant. In this study, we found no significant connection between having an asthma diagnosis and having frequently occurring vocal symptoms.ConclusionsBased on the results of this study, voice screening for children with inhalant allergy would be advisable. Prolonged cough should be taken seriously and be treated, as the mechanical trauma caused by cough seems to have a connection to vocal symptoms.



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Parameters From the Complete Phonatory Range of an Excised Rabbit Larynx

Publication date: Available online 17 January 2017
Source:Journal of Voice
Author(s): Randal D. Mills, Keith Dodd, Alex Ablavsky, Erin Devine, Jack J. Jiang
ObjectiveThis study aims to collect data throughout the complete phonatory range using rabbit larynges.Study DesignThis is a methodological excised rabbit larynx study.MethodsSeven rabbit larynges were dissected and mounted on a modified excised laryngeal apparatus. Phonation was initiated at phonation threshold pressure (PTP) and airflow was increased by consistent increments until phonation instability pressure (PIP) was reached. At each airflow level, aerodynamic measurements, acoustic recordings, and high-speed videos were recorded. This procedure was repeated at multiple elongation conditions to further explore the parameters. Data were then compared across subjects and elongation conditions.ResultsAt PTP, subglottal pressure, fundamental frequency, and sound pressure level were found to increase significantly as elongation was increased. As elongation was increased at PIP, airflow was found to significantly decrease, whereas fundamental frequency was found to significantly increase. Vibratory amplitude decreased at both PTP and PIP as elongation increased. Also, as elongation increased, the range of all parameters was found to decrease significantly.ConclusionsThe results obtained, combined with the similarities of the histologic structure of the vocal fold lamina propria between rabbits and humans, validate the rabbit larynx as an effective and reliable model for tissue inflammation studies.



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Somatosensory Tinnitus: Correlation between Cranio-Cervico-Mandibular Disorder History and Somatic Modulation

In a subpopulation of patients, tinnitus can be modulated by movements of the jaw or head and neck due to complex somatosensory-auditory interactions. In some of these subjects, tinnitus could be related to an underlying temporomandibular (TMJ) or craniocervical (NECK) dysfunction that, if correctly identified, could streamline treatment and increase chances of tinnitus improvement. However, it is still unclear whether somatic modulation of tinnitus could be used as a screening tool for identifying such patients. In this study, we included 310 tinnitus patients with normal hearing, no psychiatric comorbidities, and a positive history of TMJ and/or NECK dysfunction and/or a positive modulation of tinnitus to evaluate the characteristics of somatic modulation, investigate the relationship between positive history and positive modulation, and identify factors most strongly associated with somatic modulation. Tinnitus modulation was present in 79.67% of the patients. We found a significant association within the same subjects between a positive history and a positive tinnitus modulation for the same region, mainly for TMJ in unilateral tinnitus patients and for TMJ + NECK in bilateral tinnitus patients. A strong correlation between history and modulation in the same somatic region within the same subgroups of subjects was also identified. Most TMJ maneuvers resulted in an increased loudness, while NECK maneuvers showed an increase in tinnitus loudness in about 59% of cases. High-pitched tinnitus and male gender were associated with a higher prevalence of modulation; no differences were found for tinnitus onset, Tinnitus Handicap Inventory score, and age. In this paper, we report a strong association between history and modulation for the same regions within the same patients; such an association should always be investigated to improve chances of a correct diagnosis of somatosensory tinnitus.
Audiol Neurotol 2016;21:372-382

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