Defining priorities in the transition from paediatric to adult healthcare for rare bone disease patients: a dialogic approach.

The Italian patient association for Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome, Associazione Conto Alla Rovescia-ACAR Aps, conducted a mixed-methods study at its 2023 annual conference. The study included the Open Dialogue Approach and a feedback survey to identify the main priorities in the transitioning process from paediatric to adult healthcare for patients with Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome. The common needs identified by patients, families, caregivers, and healthcare professionals were coordination and continuity of care, patient empowerment and communication, social and practical support, and transition planning and support. This experience fostered a sense of collaboration and cooperation among stakeholders, helping to build trust and create a shared vision for improving the quality of care for these patients. Furthermore, it could be considered a starting point for other patient associations interested in using different approaches to identify the needs of their members and actively involve all stakeholders.

Estimativas de herdabilidade e tendências genéticas para características de crescimento e reprodutivas em bovinos da raça Nelore / Estimates of heritability and genetic trends for growth and reproduction traits in Nelore cattle

Foram estimados os coeficientes de herdabilidade e a mudança genética para peso à desmama (PD), peso ao sobreano (PS), ganho de peso do nascimento à desmama (GND), ganho de peso da desmama ao sobreano (GDS), perímetro escrotal (PE) e idade ao primeiro parto (IPP) em animais da raça Nelore. Foram utilizados dados de 128.148 animais nascidos entre 1984 e 2006. Os componentes de variância foram estimados pelo método da máxima verossimilhança restrita, e os valores genéticos foram preditos por modelos mistos aplicando-se modelo animal bicaracterística, incluindo peso à desmama em todas as análises. As tendências genéticas foram estimadas pela regressão dos valores genéticos sobre o ano de nascimento dos animais. Os coeficientes de herdabilidade do efeito direto estimados foram de 0,23 (0,07) (PD); 0,24 (0,02) (PS); 0,21 (0,01) (GND); 0,23 (0,01) (GDS); 0,46 (0,02) (PE) e 0,15 (0,01) (IPP). As tendências genéticas diretas estimadas foram de 0,171 (0,01); 0,219 (0,02); 0,186 (0,03) e 0,224 (0,02) kg/ano para PD, PS, GND e GDS, respectivamente, o que representa incrementos de 0,10; 0,08; 0,13 e 0,22 por cento nas médias das mesmas características ao ano, respectivamente. Para o PE e a IPP no período de 1984 a 1995, as tendências genéticas foram nulas, com valores de 0,011 (0,03) cm/ano e -0,003 (0,06) dias/ano, respectivamente. No segundo período considerado (1996 a 2006), as tendências genéticas para PE e IPP foram de 0,069 (0,01) cm/ano e -3,024 (0,04) dias/ano, respectivamente, indicando melhorias consideráveis em tais características. Esses valores sugerem que características produtivas e reprodutivas, quando utilizadas como critério de seleção, proporcionam progresso genético no rebanho, sendo indicadas para seleção de animais da raça Nelore.

The heritability coefficients and genetic trends for weaning weight (WW), post-yearling weight (PW), average gains from birth to weaning (GBW), average gains from weaning to post-yearling (GWP), scrotal circumference (SC), and age at first calving (AFC) were estimated in Nelore cattle. Variance components and heritability coefficients were estimated by restricted maximum likelihood and breeding values were predicted fitting bivariate animal models, always including weaning weight. Data from 128,148 animals born from 1984 to 2006 were used. Genetic trends for each trait were estimated by regression of breeding values on the animal birth year. Heritability estimates for direct effect were 0.23 (0.07) for WW; 0.24 (0.02) for PW; 0.21 (0.01) for GBW; 0.23 (0.01) for GWP; 0.46 (0.02) for SC; and 0.15 (0.01) for AFC. The direct genetic trends were 0.171 (0.01); 0.219 (0.02); 0.186 (0.03); and 0.224 (0.02) kg per year, for WW, PW, GBW, and GWP, respectively, corresponding to increases of 0.10, 0.08, 0.13, and 0.22 percent in the means of the same traits per year, respectively. In the first period (1984 to 1995), the SC and AFC genetic trends were null, with values of 0.011 (0.03) cm/year and -0.003 (0.06) days/year, respectively. Moreover, in the other period (1996 to 2006), the genetic trends of SC and AFC were 0.069 (0.01) cm/year and -3.024 (0.04) days/year, respectively. These values suggest that productive and reproductive traits, when used as selection criteria, result in genetic progress of the herd. Thus, they are indicated for selection of Nelore cattle.

Usefulness of the TRH test in the management of patients with differentiated thyroid cancer.

Thirty patients thyroidectomized for differentiated thyroid cancer were studied. Serum TSH was assayed in basal conditions and after TRH stimulation, while patients were in suppressive therapy with thyroid hormones. The basal TSH was normal in all the patients and less than 2 microU/ml in 20 patients. The TRH test was negative (no TSH response) in 27 patients and in all the cases with the basal TSH lower than 2 microU/ml.

Lipomatose pelvica. Correlacao RX, ultra-som e C.T. / Pelvic lypomatosis.Correlation radiography, ultrasonics and X-ray computed tomography

Os autores relatam um caso sobre lipomatose pelvica, salientando a importancia do diagnostico radiologico e tecendo consideracoes sobre os resultados ultrassonograficos e da tomografia computadorizada