27 research outputs found
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss
No full textMutations in genes encoding gap- and tight-junction proteins have been shown to cause distinct forms of hearing loss. We have now determined the GJB2 [connexin 26 (Cx26)] mutation spectrum in 60 index patients from mostly large Turkish families with autosomal-recessive inherited non-syndromic sensorineural hearing loss (NSSHL). GJB2 mutations were found in 31.7% of the families, and the GJB2- 35delG mutation accounted for 73.6% of all GJB2 mutations. The carrier frequency of GJB2- 35delG in the normal Turkish population was found to be 1.17% (five in 429). In addition to the described W24X, 233delC, 120delE and R127H mutations, we also identified a novel mutation, Q80R, in the GJB2 gene. Interestingly, the Q80R allele was inherited on the same haplotype as V27I and E114G polymorphisms. As little is known about the mutation frequencies of most other recently identified gap- and tight-junction genes as a cause for hearing loss, we further screened our patients for mutations in GJB3 (Cx31), GJA1 (Cx43), DeltaGJB6 -D13S1830 (Cx30) and the gene encoding the tight-junction protein, claudin 14 (CLDN14 ). Several novel polymorphisms, but no disease-associated mutations, were identified in the CLND14 and GJA1 genes, and we were unable to detect the DeltaGJB6 -D13S1830 deletion. A novel putative mutation, P223T, was found in the GJB3 gene in heterozygous form in a family with two affected children. Our data shows that the frequency of GJB2 mutations in Turkish patients with autosomal-recessive NSSHL and the carrier rate of the GJB2- 35delG mutation in the Turkish population, is much lower than described for other Mediterranean countries. Furthermore, mutations in other gap- and tight-junction proteins are not a frequent cause of hearing loss in Turkey
A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient
No full textRecessive mutations in COL11A2 (collagen, type XI, alpha 2), are responsible for otospondylomegaepiphyseal dysplasia (OSMED) and non-syndromic hearing loss while dominant mutations are associated with Stickler type III, isolated cleft palate, Robin sequence, non-ophthalmic Stickler syndrome, early onset osteoarthritis and autosomal dominant hearing loss. We describe here the clinical findings of two Turkish cousins with OSMED carrying a novel homozygous truncating mutation in exon 38 of COL11A2 gene, c.2763delT, identified on cDNA and confirmed at gDNA. This mutation is located on triple helix repeat domain of the collagen alpha-2 (XI) chain, where the majority of the previously identified mutations are located. Real-time RT-PCR experiment provided that mutated transcript does not decay completely. Although our analysis displays the partial survival of the mutant transcript from blood tissue, not from cartilage, we propose that this mechanism may play an important role on the variable expressivity of the heterozygous COL11A2 gene mutations. (C) 2010 Wiley-Liss, Inc
Laryngofissure Cordectomy-Evaluations of Positive Margins and Survival Rates
No full textObjective: The primary aim of this study was to evaluate the results of early-stage glottic laryngeal cancer patients who underwent laryngofissure cordectomy. Results were analyzed in terms of positive margins and survival rates
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family
No full textDominant mutations in the GJB2 gene encoding connexin 26 (Cx26) can cause non-syndromic hearing impairment alone or in association with palmoplantar keratoderma (PPK). We have identified the novel G224A (R75Q) mutation in the GJB2 gene in a four-generation family from Turkey with autosomal dominant inherited hearing impairment and PPK. The age of onset and progression of hearing loss were found to be variable among affected family members, but all of them had more severe impairment at higher hearing frequencies. Interestingly, the novel R75Q mutation affects the same amino acid residue as described recently in a small family (R75W) with profound prelingual hearing loss and PPK. However, the R75W mutation was also observed in a control individual without PPK and unknown hearing status. Therefore, the nature of the R75W mutation remains ambiguous. Our molecular findings provide further evidence for the importance of the conserved R75 in Cx26 for the physiological function of the inner ear and the epidermal cells of the skin
Does the Addition of Hyperbaric Oxygen Therapy to the Conventional Treatment Modalities Influence the Outcome of Sudden Deafness?
No full textOBJECTIVE: To investigate the therapeutic effects of the addition of hyperbaric oxygen (HBO) therapy to the conventional therapies in sudden deafness (0) and to investigate the influence of patient age on the effectiveness of HBO therapy
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.
No full textContains fulltext :
34519.pdf (Publisher’s version ) (Closed access)Myosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairment (ARNSHI) in humans. In Myo15A mouse models, vestibular dysfunction accompanies the autosomal recessive hearing loss. Genomewide homozygosity mapping and subsequent fine mapping in two Turkish families with ARNSHI revealed significant linkage to a critical interval harboring a known deafness gene MYO15A on chromosome 17p13.1-17q11.2. Subsequent sequencing of the MYO15A gene led to the identification of a novel missense mutation, c.5492G-->T (p.Gly1831Val) and a novel splice site mutation, c.8968-1G-->C. These mutations were not detected in additional 64 unrelated ARNSHI index patients and in 230 Turkish control chromosomes. Gly1831 is a conserved residue located in the motor domains of the different classes of myosins of different species. Molecular modeling of the motor head domain of the human myosin XVa protein suggests that the Gly1831Val mutation inhibits the powerstroke by reducing backbone flexibility and weakening the hydrophobic interactions necessary for signal transmission to the converter domain. Copyright (c) 2007 Wiley-Liss, Inc
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
No full textContains fulltext :
50028.pdf (Publisher’s version ) (Open Access)In two large Turkish consanguineous families, a locus for autosomal recessive nonsyndromic hearing loss (ARNSHL) was mapped to chromosome 6p21.3 by genome-wide linkage analysis in an interval overlapping with the loci DFNB53 (COL11A2), DFNB66, and DFNB67. Fine mapping excluded DFNB53 and subsequently homozygous mutations were identified in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene, also named tetraspan membrane protein of hair cell stereocilia (TMHS) gene, which was recently shown to be mutated in the "hurry scurry" mouse and in two DFNB67-linked families from Pakistan. In one family, we found a homozygous one-base pair deletion, c.649delG (p.Glu216ArgfsX26) and in the other family we identified a homozygous transition c.494C>T (p.Thr165Met). Further screening of index patients from 96 Turkish ARNSHL families and 90 Dutch ARNSHL patients identified one additional Turkish family carrying the c.649delG mutation. Haplotype analysis revealed that the c.649delG mutation was located on a common haplotype in both families. Mutation screening of the LHFPL5 homologs LHFPL3 and LHFPL4 did not reveal any disease causing mutation. Our findings indicate that LHFPL5 is essential for normal function of the human cochlea
When words with no weight shoulders the weightiness of death examining the conveyal of trauma in Himmelarkivet by Gaute Heivoll
No full textI romanen Himmelarkivet av Gaute Heivoll, står spørsmålet om muligheten for å formidle traumatiske hendelser sentralt. Romanen iscenesetter en forfatter, Gaute Heivoll, som strever med å fortelle den virkelige historien om Louis Hogganvik. Hogganvik ble arrestert og torturert under andre verdenskrig og tok i fangenskap sitt liv som følge av torturen. Forfatteren ønsker å skrive om det han kaller «dødens tyngde», men han opplever at gåtene er tunge og at ordene som skal bære dødens tyngde er uten vekt. Hva dødens tyngde innebærer beskrives også gjennom Hogganviks kone, Tehodoras, sorg. I denne masteroppgaven diskuterer jeg hvorvidt dødens tyngde kommer til uttrykk i romanen. I min analyse viser jeg, med utgangspunkt i Gadamers teori, hvordan det settes i gang et spill som er nødvendig for å formidle dødens tyngde. Jeg belyser også hvilke spesielle utfordringer som oppstår under formidlingen av dødens tyngde. I lys av Amèry og Scarry argumenterer jeg for at det både er begrensninger i forfatterens muligheter til å fullt ut forstå å dødens tyngde, og at det finnes begrensninger i språket. Romanen baserer seg på virkelige hendelser og virkelige mennesker. Det er en utstrakt bruk av dokumentarisk materiale i romanen, og forfatteren i romanen har iøynefallende likhetstrekk med Gaute Heivoll. Jeg diskuterer bruk av dokumentarisk materiale i romanen sett i forhold til Unni Langås` artikkel «Om å bære dødens tyngde - Fotografier og visuelle fortellestrategier i Gaute Heivolls roman Himmelarkivet» (2012). Jeg ser også på hvordan det preger romanen at den baserer seg på virkelige hendelser, og hvorvidt man bør skille mellom forfatteren i romanen og forfatteren av romanen.The attainability of conveying traumatic events is a main theme of Gaute Heivoll’s novel Himmelarkivet. The novel is set around an author, Gaute Heivoll, who struggles telling the real story of Louis Hogganvik. During the Second World War Hogganvik was arrested and–as a result of the torture he suffered–committed suicide while incarcerated. The author writes about what he calls “the heaviness of death”. In this thesis I will discuss how “the heaviness of death” is portrayed in the novel. I apply Gadamerian game theory to analyse how the author creates the game that is necessary to convey “the heaviness of death”. In light of Amery and Scarry’s studies on torture and pain I argue that there are limitations in the understanding of “the heaviness of death”, as well as in the human language. The novel is based on real humans and real life events. There is an extensive use of documentary material and there are strong similarities between the author in the novel and Gaute Heivoll himself. I discuss the use of documentary material compared with Unni Langås’ article «Om å bære dødens tyngde - Fotografier og visuelle fortellerstrategier I Gaute Heivolls roman Himmelarkivet» (2012). I discuss how the novel is affected by being based on real world events and wether one can distinguish between the author of and the author in the novel.Allmenn litteraturvitenskap mastergradsoppgaveMAHF-LITTALLV35
It takes two to tell a life. An analysis of the negotiation of a life story in Demian Vitanza’s Dette livet eller det neste (This Life or the Next)
No full textCopyright © 2021 Author(s). This is an open access article distributed under the terms of the Creative Commons CC-BY-NC 4.0
License (https://creativecommons.org/licenses/by-nc/4.0/).Artikkelen tek føre seg Demian Vitanzas Dette livet eller det neste (2017) for å diskutere kva det vil seia å fortelja og gjenfortelja eit liv. Romanen utforskar eit etisk og litterært grenseland, der forhandlinga mellom Tariq (som fortel livet sitt) og forfattaren (som gjenfortel det) gjer det mogleg å realisere og problematisere livshistoria til ein norsk framandkrigar. Med utgangspunkt i diskusjonar om fiksjonell referensialitet og etikk i romanar som baserer seg på eit faktisk liv, blir det argumentert for at romanen forhandlar fram både ein røyndomskontrakt og ein fiksjonskontrakt, noko som gjer at den narrative konstruksjonen kan overta for livet som er levd. Vidare argumenterer artikkelen for at den eksplisitte forhandlinga i romanen, som gir kjelda medråderett over si eiga livshistorie, skaper eit korrektiv til etikken i røyndomslitteraturen.Abstract: This article explores Demian Vitanza’s Dette livet eller det neste (2017; This Life or the Next) and discusses what it means to tell and retell a life. The novel enters an ethical and literary borderland in which the negotiation between Tariq (who is telling his life story) and the author (who re-tells Tariq’s life) functions as the central element to convey and problematize the life story of a Norwegian foreign fighter. The point of departure is discussions on fictional referentiality and ethics in fiction based on actual lives, and the article argues that the novel closes both a reality contract and a fictional contract, making it possible for the narrative construction to substitute the lived life. Furthermore, the explicit negotiation in the novel, where the author gives the source the possibility to be heard in questions pertaining to his life story, functions as a corrective to the ethics in other novels read as life writing.publishedVersio
Dagliglivsfotografier og verdensgjøring i Inuuteq Storchs Porcelain Souls
No full textInuuteq Storchs fotobok Porcelain Souls (2018) baserer seg på hans foreldres dagliglivsfotografier fra Kalaallit Nunaat
(Grønland) mellom slutten av 1960- og begynnelsen av 1980-tallet. Artikkelen beskriver motivene og montasjene i
fotoboken og spør på bakgrunn av nymaterialistisk teori hvordan fotografiene skaper en grønlandsk verden innenfra.
Videre argumenter artikkelen for at fotoboken på en særlig måte former en verden av forbindelser mellom mennesker, dyr, landskap og ting, samtidig som den skaper gjenkjennelseseffekt og følelsesmessige virkninger som påkaller en
engasjert, refleksiv og empatisk betrakter. Ved å appellere til egenmobilisering og alliansebygging forbinder Porcelain
Souls seg til de viktige selvstendiggjøringsprosessene som for tiden foregår i Grønland.Inuuteq Storch’s photobook Porcelain Souls (2018) is based on his parents’ vernacular photographs from Kalaallit
Nunaat (Greenland) recorded in a period between the late 1960s and early 1980s. This article describes the book’s
motifs and montages and asks based on new materialist theories how these photographs create a Greenlandic world
from within. Further, the author argues that the photobook in its special way creates a world of entanglements between
people, animals, landscapes, and things, and creates recognition and emotional effects that call for a committed, reflective, and empathetic viewer. Henceforth, Porcelain Souls intervenes in the important independence processes that
are currently taking place in Greenland by creating empowerment and build new alliances
