Disorder effects at low temperatures in La_{0.7-x}Y_{x}Ca_{0.3}MnO_{3} manganites

With the aim of probing the effect of magnetic disorder in the low-temperature excitations of manganites, specific-heat measurements were performed in zero field, and in magnetic fields up to 9 T in polycrystalline samples of La_{0.7-x}Y_{x}Ca_{0.3}MnO_{3}, with Y concentrations x=0, 0.10, and 0.15. Yttrium doping yielded the appearance of a cluster-glass state, giving rise to unusual low-temperature behavior of the specific-heat. The main feature observed in the results is a strong enhancement of the specific-heat linear term, which is interpreted as a direct consequence of magnetic disorder. The analysis was further corroborated by resistivity measurements in the same compounds.Comment: 9 pages, 2 figure

Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30.

J Med Genet. 1999 Aug;36(8):629-32. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. Munar-Qués M, Pedrosa JL, Coelho T, Gusmão L, Seruca R, Amorim A, Sequeiros J. Grupo de Estudio de la PAF, Palma de Mallorca, Spain. Abstract Twin studies are an important tool in medical genetics for the evaluation of the relative roles of genetic and non-genetic factors in several diseases. Familial amyloidotic polyneuropathy type I (FAP-I), TTR Met 30, was present in two sets of proven monozygotic (MZ) twins, one from Majorca and the other from Portugal. Monozygosity was established by analysis of DNA polymorphisms. Both pairs were discordant for age at onset and some clinical manifestations of FAP-I. We reviewed the differences in age at onset and clinical features in both sets and in two other pairs of presumed MZ twins with FAP-I and compared them with those in MZ twin pairs with other Mendelian disorders, such as neurofibromatosis type 1, Huntington's disease, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. We conclude that, in addition to the postulated modifying genes, there must be a significant contribution from non-genetic factors to the phenotypic variability of FAP-I (age at onset and clinical expression), either because of environmental differences or stochastic events during (or after) the twinning process. PMID: 10465115 [PubMed - indexed for MEDLINE]PMCID: PMC176297

Correlation Between Voice And Life Quality And Occupation

Dysphonia may impair the quality of communication and social relations of people, thereby direcdy affecting quality of life. It is common knowledge amongst professionals involved with the treatment of voice disorders the need for objective protocols to evaluate voice quality and measure its impact on the individual's quality of life. Aim: To associate life quality with the degree of dysphonia and professional voice use in a group of dysphonic patients. Materials and Methods: A prospective clinical study was undertaken with a group of dysphonic patients using an internationally validated voice-related quality-of-life protocol. A statistical analysis of the results was carried out, not distinguishing between those who use their voices professionally and those who don't. Results: dysphonia had an impact on the quality of life of all patients. There was no statistically significant difference between the groups - professional users and non-users of their voices; however, considering the groups separately, this correlation was significant only in the group of patients who do not use their voices professionally. Conclusion: Dysphonia affected the quality of life of all subjects regardless of their voice use.752275279Wilson, J.A., Deary, I.J., Millar, A., Mackenzie, K., The quality of life impact of dysphonia (2002) Clinical Otolaryngology and Allied Sciences, 27 (3), pp. 179-182. , DOI 10.1046/j.1365-2273.2002.00559.xThe world health organization quality of life assessment (WHOQOL): Position paper from the world health organization (1995) Soc Sci Med, 41 (10), pp. 1403-1409. , The WHOQOL Group 1995. OxfordBerlim, M.T., Fleck, M.P.A., Quality of life: A brand new concept for research and practice in psychiatry (2003) Revista Brasileira de Psiquiatria, 25 (4), pp. 249-252Jacobson, B.H., Johnson, A., Grywalsky, C., Silbergleit, A., Jacobson, G., Benninger, M.S., The voice handicap index: Development and validation (1996) Am J Speech Lang Pathol, 6 (3), pp. 66-70. , RockvilleBehlau, M., Madazio, G., Feijó, D., Pontes, P., Avaliação de voz (2001) Voz: O Livro Do Especialista, 1, pp. 121-124. , Behlau: Rio de Janeiro: RevinterHogikyan, N.D., Sethuraman, G., Validation of an instrument to measure voice-related quality of life (V- RQOL) (1999) Journal of Voice, 13 (4), pp. 557-569Dejonckere, P.H., Bradley, P., Clemente, P., Cornut, G., Crevier-Buchman, L., Friedrich, G., Van De Heyning, P., Woisard, V., A basic protocol for functional assessment of voice pathology, especially for investigating the efficacy of (phonosurgical) treatments and evaluating new assessment techniques: Guideline elaborated by the Committee on Phoniatrics of the European Laryngological Society (ELS) (2001) European Archives of Oto-Rhino-Laryngology, 258 (2), pp. 77-82. , DOI 10.1007/s004050000299Rasch, T., Gunther, S., Hoppe, U., Eysholdt, U., Rosanowski, F., Voice-related quality of life in organic and functional voice disorders (2005) Logopedics Phoniatrics Vocology, 30 (1), pp. 9-13. , DOI 10.1080/14015430510006640Krischke, S., Weigelt, S., Hoppe, U., Kollner, V., Klotz, M., Eyshouldt, U., Quality of life in dysphonic patients (2004) J Voice, 19 (1), pp. 132-137Kasama, S.T., Brasolotto, A.G., Vocal perception and quality of life (2007) Pro Fono, 19 (1), pp. 19-28. , original titleMurry, T., Medrado, R., Hogikyan, N.D., Aviv, J.E., The relationship between ratings of voice quality and quality of life measures (2004) Journal of Voice, 18 (2), pp. 183-192. , DOI 10.1016/j.jvoice.2003.11.003, PII S0892199703001607Behlau, M., Hogikyan, N.D., Gasparini, G., Quality of life and voice: Study of a Brazilian population using the voice-related quality of life measure (2007) Folia Phoniatrica et Logopaedica, 59 (6), pp. 286-296. , DOI 10.1159/00010833