Connectedness to cultural heritage among generations of Abruzzese Italian from Griffith NSW

The thesis centres on the concept of connectedness to Italian cultural heritage for second and subsequent generations of descendants. The study uses semi-structured interviews with participants to investigate cultural identity for the descendants of migrants, the meaning and value attached to such identity and how these identities, once formed, may change, be maintained and transmitted among generations. The participants who inform this study are descendants of Italian migrants from the Abruzzo region in Italy who settled and raised their families in the town of Griffith in southwest NSW. Questions are investigated a) within the particular context of a rural community with a strong Italian presence (that is Griffith), (b) within a particular regional group (that is descendants of Abruzzese migrants), and (c) among different generations (that is participants who had a parent, grandparent or a great grandparent who were of Italian origin). This study explores six factors that work towards forming a sense of connectedness, namely: the family, cultural manifestations of Italian identity, visits to Italy, interaction with family in Italy, Italian language and dialect, and intermarriage. These factors rove the discussion with participants and were the basis of analysis. Findings indicate that to varying degrees participants have maintained a connection to their cultural heritage. What distinguishes them is the different connotations placed on the manifestations of that connectedness

Nutrition and ocular disease in an older Australian cohort : the Blue Mountains Eye Study

Wolfram syndrome patients are mainly characterised by juvenile onset diabetes mellitus and optic atrophy. A synonym is the acronym DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy, deafness. Diabetes insipidus and sensorineural high-frequency hearing impairment are important additional features. This rare autosomal recessively inherited neurodegenerative syndrome is caused by mainly inactivating mutations in the WFS1 gene. It is located at chromosome 4p16 and encodes wolframin, a transmembrane protein. No function has yet been ascribed to this protein

Contralateral hearing loss in children with a unilateral enlarged vestibular aqueduct

Objective: To evaluate the long-term ipsi- and contralateral hearing of patients with a unilateral enlarged vestibular aqueduct (EVA). Study design: Multicenter retrospective cohort study. Setting: Three tertiary otology and audiology referral centers. Patients and diagnostic interventions: A total of 34 children with a unilateral enlarged vestibular aqueduct as identified on CT and/or MR imaging were evaluated with pure tone and speech perception audiometry. Mean outcome measures: Radiologic measurements of the vestibular aqueduct, ipsi- and contralateral hearing loss, ipsi- and contralateral hearing loss progression over time and DNA test results. Results: All patients in this cohort with unilateral EVA presented with hearing loss. Hearing loss was progressive in 38% of the ipsilateral ears. In 29% of the children, hearing loss was also found in the contralateral ear without EVA. In 90%, the contralateral hearing was stable, with a mean follow up of 4.2 years. We found a significant correlation between the severity of the hearing loss and the size of the EVA. A genetic diagnosis associated with EVA and/or SNHL was found in only 7%. Conclusion: About a third of the children with unilateral EVA are at risk of developing hearing loss in the contralateral ear. This indicates that at least in some patients with a unilateral EVA, a bilateral pathogenic process underlies the hearing loss, in contrary to what the imaging results suggest. These findings are important for counseling of EVA patients and their parents and have implications for follow up.Neuro Imaging Researc

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

BackgroundHearing loss is one of the most prevalent disabilities worldwide, and has a significant impact on quality of life. The adult-onset type of the condition is highly heritable but the genetic causes are largely unknown, which is in contrast to childhood-onset hearing loss.MethodsFamily and cohort studies included exome sequencing and characterisation of the hearing phenotype. Ex vivo protein expression addressed the functional effect of a DNA variant.ResultsAn in-frame deletion of 12 nucleotides in RIPOR2 was identified as a highly penetrant cause of adult-onset progressive hearing loss that segregated as an autosomal dominant trait in 12 families from the Netherlands. Hearing loss associated with the deletion in 63 subjects displayed variable audiometric characteristics and an average (SD) age of onset of 30.6 (14.9) years (range 0-70 years). A functional effect of the RIPOR2 variant was demonstrated by aberrant localisation of the mutant RIPOR2 in the stereocilia of cochlear hair cells and failure to rescue morphological defects in RIPOR2-deficient hair cells, in contrast to the wild-type protein. Strikingly, the RIPOR2 variant is present in 18 of 22 952 individuals not selected for hearing loss in the Southeast Netherlands.ConclusionCollectively, the presented data demonstrate that an inherited form of adult-onset hearing loss is relatively common, with potentially thousands of individuals at risk in the Netherlands and beyond, which makes it an attractive target for developing a (genetic) therapy.Otorhinolaryngolog

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

Neuro Imaging Researc

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One variant, c.721G > C (p.Val241Leu), occurred de novo and is predicted to affect the homeodomain of LMX1A, which is essential for DNA binding. The second variant, c.290G > C (p.Cys97Ser), predicted to affect a zinc-binding residue of the second LIM domain that is involved in protein–protein interactions. Bi-allelic deleterious variants of Lmx1a are associated with a complex phenotype in mice, including deafness and vestibular defects, due to arrest of inner ear development. Although Lmx1a mouse mutants demonstrate neurological, skeletal, pigmentation and reproductive system abnormalities, no syndromic features were present in the participating subjects of either family. LMX1A has previously been suggested as a candidate gene for intellectual disability, but our data do not support this, as affected subjects displayed normal cognition. Large variability was observed in the age of onset (a)symmetry, severity and progression rate of HI. About half of the affected individuals displayed vestibular dysfunction and experienced symptoms thereof. The late-onset progressive phenotype and the absence of cochleovestibular malformations on computed tomography scans indicate that heterozygous defects of LMX1A do not result in severe developmental abnormalities in humans. We propose that a single LMX1A wild-type copy is sufficient for normal development but insufficient for maintenance of cochleovestibular function. Alternatively, minor cochleovestibular developmental abnormalities could eventually lead to the progressive phenotype seen in the families

Hereditary deaf-blindness. Clinical and genetic aspects.

Contains fulltext : mmubn000001_413428036.pdf (publisher's version ) (Open Access)KUN, 29 april 2004Promotores : Cremers, C.W.R.J., Deutman, A.F. Co-promotores : Kremer, J.M.J., Huygen, P.L.M.288 p

Hearing Rehabilitation with Active Middle Ear Implants

Item does not contain fulltextHearing implant technology is evolving at a rapid rate and more than ever patients with hearing loss are benefiting from these emerging hearing devices. Active middle ear implants are alternatives to hearing aids and bone conducting devices, offering patients an expanded range in improving their hearing. This chapter looks at the devices currently available, their indications and the literature regarding their outcomes

Een spontane otogene pneumocephalus met een duraplaatdefect is niet zo'n onschuldige aandoening.

Item does not contain fulltex

Een occipital zwelling als eerste symptomen van een spontane otogene pheumocephalus.,[Occipital swelling as the first symptom of a spontaneous otogenic pneumocephalus]

Item does not contain fulltex