Search results for "AFN"
showing 10 items of 142 documents
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6
2013
Hereditary hearing loss is the most common human sensorineural disorder. Genetic causes are highly heterogeneous, with mutations detected in >40 genes associated with nonsyndromic hearing loss, to date. Whereas autosomal recessive and autosomal dominant inheritance is prevalent, X-linked forms of nonsyndromic hearing impairment are extremely rare. Here, we present a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss and the underlying genetic defect. Next-generation sequencing and subsequent segregation analysis detected a missense mutation (c.1771G>A, p.Gly591Ser) in the type IV collagen gene COL4A6 in all affected family members. Bioinformatic analysis an…
Dafnes di Morjē noveles „Rebeka” un stāsta „Putni” ekranizācijas
2017
Šis maģistra darbs ir veltīts literāra darba adaptācijai kino. Tēmas nosaukums – “Dafnes di Morjē romāna “Rebeka” un stāsta “Putni” ekranizācijas”. Pētījumā ir salīdzināts 1938. gadā publicētais gotiskais noslēpumu romāns “Rebeka”, un 1952. gadā publicētais šausmu stāsts “Putni” ar šo literāro darbu kino ekranizācijām, kuras attiecīgi 1940. un 1963. gadā uzņēma režisors Alfrēds Hičkoks. Pētījuma mērķis ir analizēt kā šo literāro darbu pamatidejas ir attēlotas filmās, interpretējot veiktās sižeta izmaiņas un personāžu atainojumu. Pētījuma metodes ietver kā teksta analīzi, tā arī literāro darbu un filmu salīdzinošo analīzi. Teorētiskā daļa ir veltīta ekranizācijas atbilstībai oriģinālajiem li…
Simultaneous determinations of zirconium, hafnium, yttrium and lanthanides in seawater according to a co-precipitation technique onto iron-hydroxide.
2013
Very low concentrations (pg mL(-1) or sub-pg mL(-1) level) along with the high salinity are the main problems in determining trace metal contents in seawater. This problem is mainly considered for investigations of naturally occurring YLOID (Y and Lanthanides) and Zr and Hf in order to provide precise and accurate results. The inductively coupled plasma mass spectrometry (ICP-MS), both in high and low resolution, offers many advantages including simultaneous analyses of all elements and their quantitative determination with detection limits of the order of pg mL(-1). However in the analysis of YLOID in seawater, a better determination needs an efficient combination of ICP-MS measurement wit…
CCDC 210702: Experimental Crystal Structure Determination
2003
Related Article: C.Capacchione, A.Proto, H.Ebeling, R.Mulhaupt, K.Moller, T.P.Spaniol, J.Okuda|2003|J.Am.Chem.Soc.|125|4964|doi:10.1021/ja029968g
Role of alternative food networks in Sicilian farms
2014
Today the short supply chain can be carried out through several typologies which are called as alternative food networks (AFNs). In fact, according to some studies, it is an 'alternative' response to the dominant agro-food system, which offers the possibility to produce food products through supply chains that are opposed to long, complex and rationally organised industrial chains. In the last years many European farmers adopted short supply chain to commercialise their agro-food products and Italy is one of the EU members in which AFNs are developed, thanks to its numerous typical an local products. The aim of this paper has been to analyse the role that AFNs play in Sicilian farms and how…
Cause, pathogenesis, clinical manifestations and treatment of meniere's disease and endolymphatic hydrops
2019
Meniere's disease (MD) is characterized by the triad of fluctuating hearing loss, episodic vertigo and tinnitus, and by endolymphatic hydrops found on postmortem examinations. Since the description of endolymphatic hydrops by Hallpike and Cairns all the physiopathology of Meniere's symptoms have been based on assumption that the pathologic lesion was the cause of the symptoms. Paparella came out term and concept towards understanding of a disease was, "pathogenesis," which applies to all otological diseases, in general and in particular within this context of MD, which allows us to better understand this disease. After Schuknecht proposed the theory of membranous rupture causing the mixing …
Meniere's disease: Therapeutic options
2021
Meniere's disease (MD) is characterized by the triad of fluctuating hearing loss, episodic vertigo and tinnitus, and by endolymphatic hydrops found on postmortem examinations. Since the description of endolymphatic hydrops by Hallpike and Cairns, the physiopathology of Meniere's symptoms has been based on assumption that the pathologic lesion was the cause of the symptoms. Schuknecht proposed the theory of membranous rupture causing the mixing up of endolymph and perilymph leading to the occurrence of Meniere's symptoms. Lawrence confirmed this theory with research on experimental animals. In 1995 the AAO-HNS criteria defines "Possible MD (Grade D), Probable MD (Grade C), Definite MD (Grade…
Synergistic Use of Electrochemical Impedance Spectroscopy and Photoelectrochemical Measurements for Studying Solid State Properties of Anodic HfO2
2017
Within the past years, intense research has been carried out on HfO2 as high k material, promising candidate to replace SiO2 as gate dielectric in CMOS based devices (1), and as metal oxide for resistive random access memory (ReRAM) (2). For both technological applications compact, uniform and flat oxides are necessary, and a detailed understanding of their physical properties as a function of the fabrication conditions is strongly. Hafnia performance can be significantly influenced by carrier trapping taking place at pre-existing precursors states (induced by oxygen vacancies, interstitial ions, impurities acting as dopants), or by self-trapping in a perfect lattice, where the potential we…
Understanding Deafhood: in search of its meanings.
2013
The authors argue that Deafhood (a term coined by Dr. Paddy Ladd) is an open-ended concept with an essentialist core. They describe how deaf people who have attended their Deafhood lectures and workshops have perceived different aspects of the Deafhood concept, and compare the basic tenets of Deafhood and criticisms on Deafhood to theories and criticisms on feminist essentialisms. The authors find that the vagueness and wideness of the Deafhood concept is one of its strengths, though they also find that it is in some respects problematic to combine and unite ontology and liberation theory in one concept. They further suggest that the ontological aspects of Deafhood need to be foregrounded. …
Niobium enhanced europium ion luminescence in hafnia nanocrystals
2018
This work was supported by the UL ISSP grant for Scientific Research Projects for Students and Young Researchers SJZ/2016/15 .