302 research outputs found

    A SspI PCR-RFLP detecting a silent allele at the goat CSN2 locus

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    The comparison between the cDNA sequence obtained and the published sequences of the goat CSN2 alleles showed a new single nucleotide polymorphism (SNP) (transition C-T) at the 180th nucleotide of the ninth exon. This mutation, which took place at 124 nt from the polyadenylation site, identifies a silent allele at the CSN2 locus named CSN2 A1. Since the 9th exon C-T transition creates a SspI endonuclease restriction site, the SspI digestion of a PCR product of 360 bp spanning the 9th exon and flanking regions, would allow carriers for the presence of thymine to be identified. The allelic frequency of the CSN2 A1 allele, determined in 170 goats belonging to an undefined genetic type reared in the province of Naples (Italy), was 0.23 It has been observed that the sequences in the 3’ untranslated regions (UTR), proximal to the polyadenylation site, can affect the mechanism of mRNA deadenylation and degradation. Therefore, it is reasonable to hypothesize that the C-T transition might, directly or indirectly, influence the stability of the mRNA and, consequently, the amount of protein produced

    Delayed Immunomodulatory Effect of Cow Milk-Free Diet in Meniere's Disease

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    Objective: Since 1930, dietary modification has been proposed as adjunct treatment in M\uc3\ua9ni\uc3\ua8re's disease (MD) with different and controversial results. We report the case of a 42-year-old female suffering from definite MD and intermittent seasonal allergic rhino-conjunctivitis because it highlights the importance of evaluating the different combinations of defined causative elements in an atopic patient with MD. Methods: An immunological and audiological evaluation was performed, including pure-tone, speech, and immittance audiometry; glycerol dehydration test; bithermal caloric testing; video head impulse test; cervical vestibular evoked myogenic potentials; static posturography; and Dizziness Handicap Inventory questionnaire. Results: A milk-free diet was crucial to relief from MD symptoms and a cow's milk challenge test was able to evoke them but vestibukar symptoms persist. Conclusions: The effect of dietary modification was evident only after specific immunotherapies against other allergens. This highlights the importance of evaluating different combinations of defined causative elements in the allergic treatment of MD

    The Direct Use of Mobile Phone and the Occurrence of Chondrodermatitis Nodularis in the Antihelix: An Exemplificative Case

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    Chondrodermatitis nodularis helicis (CNH) is an idiopathic inflammatory painful condition of the ear characterized by a tender nodule located on the helix or antihelix. Even if various causes have been ascribed, such as a microvascular injury due to acute exposure to cold or trauma, pressure, or rubbing, etiopathogenesis still remains unknown. We describe the unusual case of a young female with a peculiar sequential onset of bilateral CNH in the antihelix region, possibly ascribed to the direct use of mobile phone without earphones
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