41 research outputs found
Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder
Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recessive and X-linked SNHL. More than 60 genes are involved in the etiology of autosomal recessive non-syndromic hearing loss (ARNSHL) commonly manifesting as heterogeneous pre-lingual profound to severe non-progressive clinical phenotype. ILDR1-dependent ARNSHL (DFNB42, OMIM: # 609646) is a very rare sub-type of hearing disability, with unknown prevalence, caused by function-damaging genetic variants in ILDR1 gene reported in families of Middle-Eastern origin. ILDR1 (Immunoglobulin-Like Domain-containing Receptor 1) is involved in the development of semicircular canal, tricellular tight junction and auditory hair cells. An apparently non-consanguineous family of European ancestry with two affected siblings with profound progressive hearing loss characterized in their infancy and successfully treated with cochlear implants (CI) is presented. Genetic analysis of common ARNSHL genetic causes in the population of origin was negative, thus the next-generation sequencing (NGS) and family segregation analysis to identify underlying causative genetic variant was performed. Unexpectedly and atypical for the population of origin a homozygous non-sense variant ILDR1 c.942C > A (p.Cys314Ter) inherited from both heterozygous parents was identified in both patients. Contrary to the commonly reported phenotype, indices of a progressive hearing loss and potential compensatory mechanism of vestibular function were revealed with the analysis of clinical data. The utilization of NGS was demonstrated as an invaluable tool for the detection of atypical rare variants in diagnostics of unidentified hearing loss disorders
Inventory of current EU paediatric vision and hearing screening programmes
Background: We examined the diversity in paediatric vision and hearing screening
programmes in Europe.
Methods: Themes relevant for comparison of screening programmes were derived from
literature and used to compile three questionnaires on vision, hearing and public-health
screening. Tests used, professions involved, age and frequency of testing seem to influence
sensitivity, specificity and costs most. Questionnaires were sent to ophthalmologists,
orthoptists, otolaryngologists and audiologists involved in paediatric screening in all EU fullmember,
candidate and associate states. Answers were cross-checked.
Results: Thirty-nine countries participated; 35 have a vision screening programme, 33 a
nation-wide neonatal hearing screening programme. Visual acuity (VA) is measured in 35
countries, in 71% more than once. First measurement of VA varies from three to seven years
of age, but is usually before the age of five. At age three and four picture charts, including Lea
Hyvarinen are used most, in children over four Tumbling-E and Snellen. As first hearing
screening test otoacoustic emission (OAE) is used most in healthy neonates, and auditory
brainstem response (ABR) in premature newborns. The majority of hearing testing
programmes are staged; children are referred after one to four abnormal tests. Vision
screening is performed mostly by paediatricians, ophthalmologists or nurses. Funding is
mostly by health insurance or state. Coverage was reported as >95% in half of countries, but
reporting was often not first-hand.
Conclusion: Largest differences were found in VA charts used (12), professions involved in
vision screening (10), number of hearing screening tests before referral (1-4) and funding
sources (8)
Hearing restoration with auditory brainstem implant in deaf children after meningitis: a scoping review
Prospects of Extracellular Vesicles in Otorhinolaryngology, Head and Neck Surgery
The diagnostic and therapeutic potential of extracellular vesicles (EVs) has been recognised in many fields of medicine for several years. More recently, it has become a topic of increasing interest in otorhinolaryngology, head and neck surgery (ORL-HNS). With this narrative review, we have aspired to determine different aspects of those nanometrically sized theranostic particles, which seem to have promising potential as biomarkers in some of the most common diseases of the ORL-HNS by being available via less invasive diagnostic methods. At the same time, a better understanding of their activity provides us with new possibilities for developing specific target treatments. So far, most research has been oriented towards the role of EVs in the progression of head and neck cancer, notably head and neck squamous cell cancer. Nonetheless, some of this research has focused on chronic diseases of the ears, nose and paranasal sinuses. However, most research is still in the preclinical or experimental phase. It therefore requires a further and more profound understanding of EV content and behaviour to utilise their nanotheranostic capacities to their fullest potential
Priredba freiburškega enozložnega besednega preizkusa za slovenščino
Speech audiometry is one of the standard methods used to diagnose the type of hearing loss and to assess the communication function of the patient by determining the level of the patient’s ability to understand and repeat words presented to him or her in a hearing test. For this purpose, the Slovenian adaptation of the German tests developed by Hahlbrock (1953, 1960) – the Freiburg Monosyllabic Word Test and the Freiburg Number Test – are used in Slovenia (adapted in 1968 by Pompe). In this paper we focus on the Freiburg Monosyllabic Word Test for Slovenian, which has been criticized by patients as well as in the literature for the unequal difficulty and frequency of the words, with many of these being extremely rare or even obsolete. As part of the patient’s communication function is retrieving the meaning of individual words by guessing, the less frequent and consequently less familiar words do not contribute to reliable testing results. We therefore adapt the test by identifying and removing such words and supplement them with phonetically similar words to preserve the phonetic balance of the list. The words used for replacement are extracted from the written corpus of Slovenian Gigafida and the spoken corpus of Slovenian GOS, while the optimal combinations of words are established by using computational algorithms.Govorna avdiometrija je eden od standardnih diagnostičnih pripomočkov pri ugotavljanju različnih tipov slušnega primanjkljaja ter pri preverjanju sporazumevalne funkcije pri pacientu, kjer s pomočjo testov slušne zaznave preverjamo, kakšna je pacientova zmožnost razumeti in ponoviti besede iz testa. V Sloveniji je v rabi Freiburški govorni preizkus (enozložni besedni in številčni preizkus), ki ga je razvil Hahlbrock (Hahlbrock 1953, 1960), za slovenske govorce pa leta 1968 priredil Pompe. V članku se osredotočimo na enozložni besedni preizkus, za katerega je bilo ugotovljeno veliko pomanjkljivosti predvsem z vidika pogostosti besed, saj test vsebuje kar precejšnje število izjemno redkih ali celo zastarelih besed. Ker je del sporazumevalne funkcije pri govorcu tudi zmožnost ugibanja slišane besede, je pri velikem številu govorcu neznanih besed pod vprašajem veljavnost izmerjenega rezultata, saj neznane besede govorec težje ugane. Test prenovimo tako, da najprej identificiramo manj pogoste in zastarele besede ter jih zamenjamo s fonetično podobnimi besedami, da obdržimo fonetično uravnoteženost testa. Nadomestne besede poiščemo z uporabo pisnega korpusa slovenščine Gigafida ter korpusa govorjene slovenščine GOS. Najbolj ustrezno kombinacijo nadomestnih besed, ki ohranja fonetično uravnoteženost testa, določimo z uporabo računskih algoritmov
Prospects of Extracellular Vesicles in Otorhinolaryngology, Head and Neck Surgery
The diagnostic and therapeutic potential of extracellular vesicles (EVs) has been recognised in many fields of medicine for several years. More recently, it has become a topic of increasing interest in otorhinolaryngology, head and neck surgery (ORL-HNS). With this narrative review, we have aspired to determine different aspects of those nanometrically sized theranostic particles, which seem to have promising potential as biomarkers in some of the most common diseases of the ORL-HNS by being available via less invasive diagnostic methods. At the same time, a better understanding of their activity provides us with new possibilities for developing specific target treatments. So far, most research has been oriented towards the role of EVs in the progression of head and neck cancer, notably head and neck squamous cell cancer. Nonetheless, some of this research has focused on chronic diseases of the ears, nose and paranasal sinuses. However, most research is still in the preclinical or experimental phase. It therefore requires a further and more profound understanding of EV content and behaviour to utilise their nanotheranostic capacities to their fullest potential
Glucagon-like peptide-1, a matter of taste?
Understanding of gustatory coding helps to predict, and perhaps even modulate the ingestive decision circuitry, especially when eating behaviour becomes dysfunctional. Preclinical research demonstrated that glucagon like peptide 1 (GLP-1) is locally synthesized in taste bud cells in the tongue and that GLP-1 receptor exists on the gustatory nerves in close proximity to GLP-1 containing taste bud cells. In humans, the tongue has not yet been addressed as clinically relevant target for GLP-1 based therapies. The primary aim of the current review was to elaborate on the role of GLP- 1 in mammalian gustatory system, in particular in the perception of sweet. Secondly, we aimed to explore what modulates gustatory coding and whether the GLP-1 based therapies might be involved in regulation of taste perception. We performed a series of PubMed, Medline and Embase databases systemic searches. The Population-Intervention-Comparison-Outcome (PICO) framework was used to identify interventional studies. Based on the available data, GLP-1 is specifically involved in the perception of sweet. Aging, diabetes and obesity are characterized by diminished taste and sweet perception. Calorie restriction and bariatric surgery are associated with a diminished appreciation of sweet food. GLP-1 receptor agonists (RAs) modulate food preference, yet its modulatory potential in gustatory coding is currently unknown. Future studies should explore whether GLP-1 RAs modulate taste perception to the extent that changes of food preference and consumption ensue
Review article: structural brain alterations in prelingually deaf
Functional studies show that our brain has a remarkable ability to reorganize itself in the absence of one or more sensory modalities. In this review, we gathered all the available articles investigating structural alterations in congenitally deaf subjects. Some concentrated only on specific regions of interest (e.g., auditory areas), while others examined the whole brain. The majority of structural alterations were observed in the auditory white matter and were more pronounced in the right hemisphere. A decreased white matter volume or fractional anisotropy in the auditory areas were the most common findings in congenitally deaf subjects. Only a few studies observed alterations in the auditory grey matter. Preservation of the grey matter might be due to the cross-modal plasticity as well as due to the lack of sensitivity of methods used for microstructural alterations of grey matter. Structural alterations were also observed in the frontal, visual, and other cerebral regions as well as in the cerebellum. The observed structural brain alterations in the deaf can probably be attributed mainly to the cross-modal plasticity in the absence of sound input and use of sign instead of spoken language