Development Of Infants With A Risk Indicator For Hearing Loss Associated To Living Enviroment

Infants with a risk indicator of hearing loss (RIHL) are more likely to have delays in their development. Besides the biological risk, the infant's environment may determine the outcome of their development. Objective: To compare the motor, cognitive and language development of infants with and without RIHL and to know the affordances of the home environment of those infants. Methods: This was an observational research exploratory, cross-sectional and quantitative study, in which the development of 77 infants with RIHL (Study Group) were compared to 77 infants without RIHL (Compared Group). Cognition, language and motricity were evaluated according to the Bayley Scale of Infant Development, and the home environment according to the Affordability of the Home Environment for Motor Development - Baby Scale questionnaire. Results: The most frequent risk indicators were family history (25.6%) and hyperbilirubinaemia (24.4%). In the Study Group, 13 (16.8%) infants presented delays in at least one domain and in the Control Group 3 (3.9%) infants presented delays. There was a statistically significant difference in the motor (p = 0.0001), cognitive (p = 0.001) and language (p = 0.0304) domains, with a better score in the Control Group. Regarding the home environment, 70.2% of houses in the Study Group were classified as less than adequate or mildly adequate, while in the Control Group this was 50.7%. Conclusion: The average development of the infants with risk indicators for hearing loss is below the average development of infants without them. Also, the number of environments below adequate is higher in the group with infants with risk indicators.271495

Camperdown Hemoglobin Associated With β° Thalassemia In A Brazilian Child

We report the coexistence of Hb Camperdown [β 104 (G6) Arg → Ser] and β°-thalassemia [β39 (Gln → stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's β-thalassemia trait. His Hb Camperdown heterozygous father was clinically and hematologically normal. To our knowledge, this is the first description of an association of β°-thalassemia with Hb Camperdown. Copyright by the Brazilian Society of Genetics.283394396Araújo, A.S., Silva, W.A., Leao, S.A., Bandeira, F.C., Petrou, M., Modell, B., Zago, M.A., A different molecular pattern of β-thalassemia mutations in Northeast of Brazil (2003) Hemoglobin, 27, pp. 211-217Amone, A., X-ray diffraction study of binding of 2,3-diphosphoglycerate to human deoxyhemoglobin (1972) Nature, 237, pp. 146-149Bertuzzo, C.S., Sonati, M.F., Costa, F.F., Hematological phenotype and the type of β thalassemia mutation in Brazil (1997) Braz J Genet, 20, pp. 319-321Bianco, I., Graziani, B., Carboni, C., Genetic patterns in thalassemia intermedia (constitutional microcytic anemia). Familial hematological and biosynthetic studies (1977) Hum Hered, 27, pp. 257-272Blouquit, Y., Lacombe, C., Arous, N., Le Qurrec, A., Branconnier, F., Bonhomme, J., Soummer, A.M., Galacteros, F., Seven new cases of hemoglobin Camperdown alpha 2 beta 2 104 (G6) ARG → SER found in Malta, Sicily and Tunisia (1984) Hemoglobin, 8, pp. 613-619Chang, J.C., Kan, Y.W., β°-thalassemia, a nonsense mutation in man (1979) Proc Natl Acad Sci USA, 76, pp. 2886-2889Clarke, G.M., Higgins, T.N., Laboratory investigation of hemoglobinopathies and thalassemias: Review and update (2000) Clin Chem, 46, pp. 1284-1290Fonseca, S.F., Kerbauy, J., Escrivçao, C., Figueiredo, M.S., Cançado, R., Arruda, V.R., Saad, S.T.O., Costa, F.F., Genetic analysis of beta-thalassemia major and beta-thalassemia intermedia in Brazil (1998) Hemoglobin, 22, pp. 197-207Grignoli, C.R.E., Carvalho, M.H., Kimura, E.M., Sonati, M.F., Arruda, V.R., Saad, S.T.O., Costa, F.F., β°-thalassemia resulting from a novel mutation: β66/u → stop codon (2000) Eur J Haematol, 64, pp. 137-138Kimura, E.M., Grignoli, C.R.E., Pinheiro, V.R.P., Costa, F.F., Sonati, M.F., Thalassemia intermedia as a result of heterozygosis for β°-thallassemia and αααanti3.7/αα genotype in a Brazilian patient (2003) Braz J Med Biol Res, 36, pp. 699-701Kister, J., Barbadjian, J., Blouquit, Y., Bohn, B., Galacteros, F., Poyart, C., Inhibition of oxygen-linked anion binding in Hb Camperdown [α2β2 104 (G6) ARG → SER] (1989) Hemoglobin, 13, pp. 567-578Miranda, S.R.P., Kimura, E.M., Teixeira, R.C., Bertuzzo, C.S., Ramalho, A.A., Saad, S.T.O., Costa, F.F., Hb Camperdown [α2β2 104 (G6) ARG → SER] identified by DNA analysis in a Brazilian family (1996) Hemoglobin, 20, pp. 147-153Old, J.M., Screening arid genetic diagnosis of haemoglobin disorders (2003) Blood Rev, 17, pp. 43-53Olivieri, N.F., The β-thalassemias (1999) N Engl J Med, 341, pp. 99-109Thein, S.L., Genetic insights into the clinical diversity of beta thalassaemia (2004) Br J Haematol, 124, pp. 264-274Weatherall, D.J., Clegg, J.B., Inherited haemoglobin disorders: An increasing global health problem (2001) Bull World Health Organ, 79, pp. 704-712Wilkinson, T., Chua, C.G., Carrell, R.W., Robin, H., Exner, T., Lee, K.M., Kronenberg, H., Haemoglobin Camperdown β 104(G6) Arginine leads to serine (1975) Biochim Biophys Acta, 393, pp. 195-200Zago, M.A., Costa, F.F., Hereditary hemoglobin disorders in Brazil (1985) Trans R Soc Trop Med Hyg, 79, pp. 385-38

To be or not to be? What molecules say about Runcina brenkoae Thompson, 1980 (Gastropoda: Heterobranchia: Runcinida)

Runcinids are poorly known minute marine slugs inhabiting intertidal and shallow subtidal rocky shores. Among the European species, Runcina brenkoae, described from the Adriatic Sea in the Mediterranean, has been described to display chromatic variability, placing in question the true identity and geographic distribution of the species. In this paper we investigate the taxonomic status of R. brenkoae based on specimens from the central and western Mediterranean Sea and the southern Iberian coastline of Portugal and Spain, following an integrative approach combining multi-locus molecular phylogenetics based on the mitochondrial markers cytochrome c oxidase subunit I and 16S rRNA and the nuclear gene histone H3, together with the study of morpho-anatomical characters investigated by scanning electron microscopy. To aid in species delimitation, the Automatic Barcode Gap Discovery and Bayesian Poisson tree process methods were employed. Our results indicate the existence of a complex of three species previously identified as R. brenkoae, namely two new species here described (R. marcosi n. sp. and R. lusitanica n. sp.) and R. brenkoae proper