Estimation of genetic parameters for milk yield in Murrah buffaloes by Bayesian inference.

Random regression models were used to estimate genetic parameters for test-day milk yield in Murrah buffaloes using Bayesian inference. Data comprised 17,935 test-day milk records from 1,433 buffaloes. Twelve models were tested using different combinations of third-, fourth-, fifth-, sixth-, and seventh-order orthogonal polynomials of weeks of lactation for additive genetic and permanent environmental effects. All models included the fixed effects of contemporary group, number of daily milkings and age of cow at calving as covariate (linear and quadratic effect). In addition, residual variances were considered to be heterogeneous with 6 classes of variance. Models were selected based on the residual mean square error, weighted average of residual variance estimates, and estimates of variance components, heritabilities, correlations, eigenvalues, and eigenfunctions. Results indicated that changes in the order of fit for additive genetic and permanent environmental random effects influenced the estimation of genetic parameters. Heritability estimates ranged from 0.19 to 0.31. Genetic correlation estimates were close to unity between adjacent test-day records, but decreased gradually as the interval between test-days increased. Results from mean squared error and weighted averages of residual variance estimates suggested that a model considering sixth- and seventh-order Legendre polynomials for additive and permanent environmental effects, respectively, and 6 classes for residual variances, provided the best fit. Nevertheless, this model presented the largest degree of complexity. A more parsimonious model, with fourth- and sixth-order polynomials, respectively, for these same effects, yielded very similar genetic parameter estimates. Therefore, this last model is recommended for routine applications.

Estimação de parâmetros genéticos para características de crescimento de ovinos Santa Inês utilizando modelos uni e multicaracterísticas / Estimation of genetic parameters for growth traits of Santa Inês sheep using single and multiple-trait models

Utilizaram-se registros de pesos do nascimento aos 196 dias de idade de 927 cordeiros, filhos de 45 reprodutores e 323 matrizes de ovinos da raça Santa Inês, controlados de 1983 a 2000, com o objetivo de avaliar três modelos que consideraram ou não o efeito genético materno e a (co)variância entre os efeitos genéticos direto e materno, para estimar componentes de variância e parâmetros genéticos por meio de modelos uni e bicaracterísticas. Os componentes de (co)variâncias e os parâmetros genéticos direto e materno para os pesos foram estimados pelo método da máxima verossimilhança restrita, sob modelo animal. De acordo com o teste de razão de verossimilhança, o modelo que incluiu o efeito aditivo direto mais o efeito materno foi o indicado para todas as características estudadas. A não-inclusão do efeito materno no modelo de análise superestimou as variâncias e as herdabilidades para o efeito direto (0,56 a 0,23). A importância do efeito materno diminuiu ao longo da trajetória de crescimento, à medida que a idade dos cordeiros aumentava. As variâncias e as herdabilidades estimadas por meio dos modelos bicaracterísticas para os efeitos genéticos diretos foram superiores às obtidas pelos modelos unicaracterísticas. As correlações genéticas entre as características foram altas e positivas. O efeito materno foi importante para todas as características estudadas, devendo, portanto, ser considerado nos estudos de crescimento. Os modelos bicaracterísticas possibilitaram resgatar parte da variância aditiva direta, levando a estimativas maiores de herdabilidade.

Records of birth weights at 196 days of age of 927 lamb progenies of 45 sires and 323 dams of Santa Ines sheep, controlled from 1983 to 2000, were used with purpose of evaluating three models that considered or no the maternal genetic effect and covariance between direct and maternal genetic effects, to estimate variance components and genetic parameters by single and two-trait analyses. The (co)variance components and genetic direct and maternal parameters were estimated by restricted maximum likelihood methods, under animal model. The model that included additive direct and maternal effects showed higher value for log likelihood for all the studied traits. Model without maternal effect overestimated the variances and heritability for direct genetic effect (0.56 to 0.23). The importance of maternal effect decreased with growth, as the age of the lambs increased. The variances and heritability estimates in two-trait models for genetic direct genetic effect were higher than those obtained by single-trait models. The genetic correlations between the traits were high and positive. The maternal effect was important for all the studied traits. The two-trait models allowed better estimate of the direct additive variance, causing higher heritability value.

Estimação de parâmetros genéticos para características de crescimento de ovinos Santa Inês utilizando modelos uni e multicaracterísticas / Estimation of genetic parameters for growth traits of Santa Inês sheep using single and multiple-trait models

Utilizaram-se registros de pesos do nascimento aos 196 dias de idade de 927 cordeiros, filhos de 45 reprodutores e 323 matrizes de ovinos da raça Santa Inês, controlados de 1983 a 2000, com o objetivo de avaliar três modelos que consideraram ou não o efeito genético materno e a (co)variância entre os efeitos genéticos direto e materno, para estimar componentes de variância e parâmetros genéticos por meio de modelos uni e bicaracterísticas. Os componentes de (co)variâncias e os parâmetros genéticos direto e materno para os pesos foram estimados pelo método da máxima verossimilhança restrita, sob modelo animal. De acordo com o teste de razão de verossimilhança, o modelo que incluiu o efeito aditivo direto mais o efeito materno foi o indicado para todas as características estudadas. A não-inclusão do efeito materno no modelo de análise superestimou as variâncias e as herdabilidades para o efeito direto (0,56 a 0,23). A importância do efeito materno diminuiu ao longo da trajetória de crescimento, à medida que a idade dos cordeiros aumentava. As variâncias e as herdabilidades estimadas por meio dos modelos bicaracterísticas para os efeitos genéticos diretos foram superiores às obtidas pelos modelos unicaracterísticas. As correlações genéticas entre as características foram altas e positivas. O efeito materno foi importante para todas as características estudadas, devendo, portanto, ser considerado nos estudos de crescimento. Os modelos bicaracterísticas possibilitaram resgatar parte da variância aditiva direta, levando a estimativas maiores de herdabilidade.

Records of birth weights at 196 days of age of 927 lamb progenies of 45 sires and 323 dams of Santa Ines sheep, controlled from 1983 to 2000, were used with purpose of evaluating three models that considered or no the maternal genetic effect and covariance between direct and maternal genetic effects, to estimate variance components and genetic parameters by single and two-trait analyses. The (co)variance components and genetic direct and maternal parameters were estimated by restricted maximum likelihood methods, under animal model. The model that included additive direct and maternal effects showed higher value for log likelihood for all the studied traits. Model without maternal effect overestimated the variances and heritability for direct genetic effect (0.56 to 0.23). The importance of maternal effect decreased with growth, as the age of the lambs increased. The variances and heritability estimates in two-trait models for genetic direct genetic effect were higher than those obtained by single-trait models. The genetic correlations between the traits were high and positive. The maternal effect was important for all the studied traits. The two-trait models allowed better estimate of the direct additive variance, causing higher heritability value.

Estimativas de parâmetros genéticos para características reprodutivas de suínos / Genetic parameters estimates for reproductive traits in swine

Foram utilizados dados referentes à idade da fêmea no primeiro parto (IPP), número total de leitões nascidos (NLN), número de leitões nascidos vivos (NLNV) e peso da leitegada no nascimento (PLV) para estimar parâmetros genéticos e fenotípicos de características reprodutivas de suínos da raca Large White. Variâncias e covariâncias genéticas e fenotípicas foram estimadas pelo método da máxima verossimilhanca restrita (REML), usando na análise da IPP o modelo que incluiu os efeitos genéticos direto e materno e comum de leitegada. Para NLN, NLNV e PLV, o modelo incluiu apenas efeito genético direto. As herdabilidades para os efeitos genéticos aditivos direto variaram de 0,17 a 0,34. A maioria das características apresentou baixa herdabilidade, sugerindo a necessidade de estratégias de selecão que incluam informacões de família para obtencão de progresso genético. As correlacões genéticas indicaram que IPP está associada às demais características estudadas e que a resposta em NLN pode ser obtida por meio da selecão em NLNV.

Estimativas de parâmetros genéticos para características de desempenho de suínos em fase de crescimento e terminação / Genetic parameter estimates of performance traits in swine during the growing and finishing periods

Foram utilizados dados de conversão alimentar, espessura de toucinho corrigida para 100kg, idade para atingir 100kg e ganho de peso médio diário, para estimar parâmetros genéticos e fenotípicos de características de desempenho de suínos da raça Large White. As características estudadas foram avaliadas por sexo, em razão do manejo diferenciado para machos e fêmeas. Variâncias e covariâncias genéticas e fenotípicas foram estimadas pelo método da máxima verossimilhança restrita, usando modelo que incluiu os efeitos genéticos direto, materno e comum de leitegada. As estimativas de herdabilidade do efeito genético direto variaram de 0,13 a 0,55, indicando que, para a maioria das características, o uso da seleção direta deve ser eficiente. Os valores das estimativas de herdabilidade do efeito genético materno foram baixos (0,02 a 0,05). As estimativas do efeito comum de leitegada variaram de baixas a médias (0,05 a 0,18). As correlações genéticas entre as características indicaram que, quando o objetivo do programa de melhoramento é a melhoria de todas as características, deve-se fazer seleção direta para conversão alimentar, espessura de toucinho e idade para atingir 100kg de peso vivo, e indireta para ganho de peso médio diário por meio da seleção da idade para atingir 100kg.

Estudo da divergência genética entre linhas de suínos utilizando técnicas de análise multivariada / Genetic divergence study of swine lines by multivariate analysis techniques

A divergência genética entre duas linhas de suínos da raça Large White foi avaliada utilizando-se técnicas de análise multivariada. Foram incluídas no estudo três características de desempenho - conversão alimentar, espessura de toucinho corrigida para 100kg e ganho de peso médio diário para machos - e cinco reprodutivas - idade da porca ao primeiro parto, número de leitões nascidos vivos, número de leitões aos 21 dias e pesos da leitegada ao nascimento e aos 21 dias. Os dados foram agrupados em três arquivos. O primeiro constituiu-se de informações das características de desempenho avaliadas nos machos, o segundo continha informações reprodutivas, considerando parições até a quarta ordem e o último foi formado por informações de desempenho e reprodutivas das matrizes referentes ao primeiro parto. A análise de variância indicou a existência de divergência genética entre as duas linhas. Os resultados dos testes de união-interseção de Roy evidenciaram superioridade das linhas para características distintas, indicando a possibilidade de explorar a complementaridade em cruzamentos envolvendo as duas linhas. Foi encontrada diferença significativa pelo teste F para os escores obtidos pela aplicação da função discriminante linear de Fisher obtida na análise de cada arquivo que mostra, também, a existência da divergência genética entre as linhas de suínos.

Long-term effects of octreotide on markers of bone metabolism in acromegaly: evidence of increased serum parathormone concentrations.

The effects of octreotide on biochemical markers of bone turnover were evaluated in patients with active acromegaly. Serum GH, IGF-I and serum and urinary markers of bone metabolism were measured before and after 4 months of treatment in 27 patients (short-term treatment) and after 12 and 24 months of treatment in 15 patients (long-term treatment). In the short-term, octreotide significantly decreased the levels of serum GH, IGF-I, calcium, osteocalcin, carboxyterminal propeptide of type I collagen and alkaline phosphatase plus urinary excretion of calcium. Short-term treatment significantly increased serum parathormone levels (before treatment 30.1 +/- 9.57 and at 4 months 46.1 +/- 24.98 ng/L, p < 0.001) and urinary excretion of phosphate; urinary excretion of hydroxyproline was unchanged. The same results were observed during long-term treatment, except that there was no significant difference of serum calcium and alkaline phosphatase levels before and after treatment. Parathormone concentrations were still higher at 24 months compared with those prior to treatment (before treatment 31.9 +/- 9.74 and at 24 months 44.9 +/- 21.18 ng/L, p < 0.05). The changes of most bone markers during octreotide therapy can be explained by the decrease of serum GH and IGF-I concentrations. On the other hand, the rise of parathormone concentrations suggests that octreotide has ulterior and long-standing actions on calcium homeostasis: intestinal malabsorption of calcium due to the octreotide could contribute to this secondary hyperparathyroidism. The clinical consequences of these alterations of bone metabolism need to be further clarified.

[Serum levels of the tartrate-resistant isoenzyme, acid phosphatase, for the evaluation of bone remodeling in hyperthyroidism]. / Il dosaggio sierico dell'isoenzima tartrato resistente della fosfatasi acida nella valutazione del rimodellamento osseo nell'ipertiroidismo.

Tartrate-resistant acid phosphatase (TRAP) is one of the acid phosphatase isoenzymes. It is secreted by osteoclasts so it has been proposed as a marker of bone resorption. Bone turnover is high in hyperthyroidism due to an increase in both bone resorption and formation. The aim of the study was to measure serum TRAP as well as other markers of bone metabolism in 20 fertile age females affected by Graves-disease; 11 patients were also studied after euthyroid state was attained by means of a 6 month course of methimazole treatment. TRAP was measured with the colorimetric method using p-nitrophenylphosphate as substrate. Free thyroid hormones, TSH, serum calcium (corrected for albumin concentration), phosphate, osteocalcin, alkaline phosphatase, parathormone intact molecule, and urinary excretions of calcium, phosphate and hydroxyproline were measured, too. Twenty-eight healthy fertile women made up the control group. Untreated patients had a significant increase of TRAP, osteocalcin, serum calcium, alkaline phosphatase and urinary excretion of calcium and hydroxyproline. A significant fall in all these parameters but alkaline phosphatase was disclosed comparing patients before and after treatment, nevertheless only urinary calcium became not significantly different from the controls. TRAP showed a significant correlation with free T3 levels but not with hydroxyproline excretions. This survey on fertile age women with Graves' disease shows a significant increase in serum concentration of TRAP, which decreases, but doesn't get normalization, when euthyroidism is attained by a six month course of methimazole therapy.(ABSTRACT TRUNCATED AT 250 WORDS)

Increased serum levels of carboxyterminal propeptide of type 1 collagen (PICP) in hyperthyroidism.

Type 1 collagen is the major organic constituent of the bone: its synthesis is reflected by the serum levels of type 1 procollagen C-terminal propeptide (PICP), which is therefore considered an index of osteoblastic activity. Serum PICP along with other serum and urinary markers of bone metabolism were measured in 16 untreated premenopausal females affected by Graves' disease and also in 7 of them after attainment of euthyroidism by methimazole treatment. Before treatment PICP was higher than sex and age-matched controls (324.19 +/- 101.74 vs. 131.44 +/- 26.25 micrograms/l, p < 0.001). Osteocalcin, alkaline phosphatase, serum calcium and urinary excretions of calcium and hydroxyproline were significantly increased with respect to controls, whereas parathormone was lower. Treatment induced a significant decrease of PICP, as well as calcemia, calciuria and hydroxyprolinuria compared to pretreatment values, while osteocalcin and alkaline phosphatase did not significantly differ. Non parametric correlation analysis showed positive correlation of free T3 and PICP (rs = 0.73, p < 0.005), osteocalcin and alkaline phosphatase; PICP was also significantly correlated with osteocalcin and alkaline phosphatase. Our data suggest that hyperthyroidism due to Graves' disease causes an increase of serum concentrations of PICP, which decrease after attainment of euthyroidism. The differences between PICP and BGP as markers of bone synthesis need to be further clarified.

[Pericardial liquid layer as an occasional finding in internal echography. Normal patterns and pathologic limits]. / Falda liquida pericardica come riscontro occasionale nell'ecografia internistica. Quadri normali e limiti con il patologico.

A small amount of fluid in the pericardial sac is often observed incidentally during upper abdomen US studies. In order to assess the normality range for this finding, 500 patients undergoing liver US were evaluated for the presence of pericardial fluid, the thickness of which was subsequently measured in positive cases. In a group of 20 patients with pericardial fluid thickness ranging 5-9 mm and in 6 cases with pericardial effusion greater than 10 mm, cardiologic evaluation was performed (clinical examination, ECG, echocardiography). Pericardial fluid was quite a common finding (20.8%) which had no clinical relevance when less than 10 mm. On the contrary, its clinical relevance was high when greater than 10 mm, and extending around the heart.

[Serum osteocalcin in hyperthyroidism]. / L'osteocalcina sierica nell'ipertiroidismo.

Several bone metabolism biochemical parameters were measured to evaluate the increased serum osteocalcin (sBGP) in hyperthyroidism. Twenty patients (19 women and 1 man, aged 22-69) and 20 age and sex-matched healthy subjects were examined. The following serum measurements were performed: calcium, phosphate, mid-molecule PTH, calcitonin, 25OH vitD, alkaline phosphatase, total and free thyroid hormones; urinary excretion of calcium, hydroxyproline and creatinine was also measured. The results (mean +/- standard error) show significant increases of sBGP (16.4 +/- 1.02 ng/mL; p less than 0.001), serum calcium (10.1 +/- 0.1 mg/dL; p less than 0.001), alkaline phosphatase (144.0 +/- 11.7 UI/L; p less than 0.001), urinary calcium (315.6 +/- 48.5 mg/g urinary creatinine; p less than 0.001) and hydroxyproline (43.0 +/- 6.1 mg/g urinary creatinine; p less than 0.001). A significant correlation between total and free thyroid hormones and sBGP was found. Accelerated bone turnover in hyperthyroid patients is therefore confirmed: both osteoclastic bone resorption, as suggested by increased serum and urinary calcium and urinary hydroxyproline, and osteoblastic bone formation, as suggested by increased serum osteocalcin and alkaline phosphatase, are stimulated.

HLA antigens and haplotypes associated with idiopathic haemochromatosis in Veneto: peculiar association with HLA-A3,B35.

HLA-A and HLA-B antigens were determined in 16 unrelated subjects orginating from Veneto affected by idiopathic haemochromatosis (IH). HLA-A3 was found in 13/16 patients vs. 300/1,348 controls (p less than 0.00005). Prevalences of A3,B35 haplotype were 0.4375 in patients vs. 0.0816 in controls (p less than 0.0005). Linkage disequilibrium analysis proved the existence of a positive third-order linkage disequilibrium among IH, HLA-A3 and HLA-B35 alleles. Our data confirm the close association of IH and HLA-A3 and prove the peculiar association of the disease with A3,B35 haplotype in north-eastern regions of Italy. The positive third-order linkage disequilibrium suggests a remote event (mutation, recombination or immigration) as origin for IH and A3,B35 association.

[Hypogonadism in idiopathic hemochromatosis]. / L'ipogonadismo nell'emocromatosi idiopatica.

We studied the prevalence and the pathogenesis of hypogonadism in 16 male patients affected by idiopathic haemochromatosis. Thirteen patients were untreated, 14 had liver cirrhosis; alcohol intake was actually less than 80 g/die. LH and FSH were measured in the basal state and after iv. bolus of 100 micrograms of synthetic gonadotropin-releasing hormone. Plasma concentrations of testosterone, LH-FSH were determined, respectively, by RIA and LIA. Ten patients complained of loss of libido and potency (Group A): this group, as compared to controls, had significant reductions of testosterone, basal gonadotropins and pituitary responses. Nine of these patients disclosed testicular hypotrophy and low blood testosterone: 8 showed hypogonadotropic hypogonadism with low testosterone and LH-FSH responses, often accompanied by reduced basal concentrations of gonadotropins; one patient had a primitive testicular failure with low testosterone but a high response of LH to the GnRH. The other 6 patients had normal sexual activity (Group B): their testicular volumes and testosterone concentrations were normal, but 2 patients disclosed both LH and FSH hyperresponsiveness to the GnRH, which suggests an early primitive testicular failure. Our data emphasize the high prevalence of hypogonadism in male haemochromatosis subjects and disclose that sexual activity, testicular volume and laboratory results are tightly correlated. Stimulation with GnRH proved that hypothalamic-pituitary dysfunction is by far the most frequent cause of testicular failure in idiopathic haemochromatosis.

[The side effects of phlebography of the lower extremities using iohexol. A prospective study]. / Effetti collaterali della flebografia degli arti inferiori con ioexolo. Studio prospettico.

In this prospective study 463 consecutive outpatients, who had undergone phlebography because of clinically suspected deep venous thrombosis (DVT) were examined with clinical follow-up and impedance plethysmography to evaluate the rate of contrast media complications. Seventy-nine patients had immediate and mild side effects, and one had moderate side effects (bronchospasm); no patient suffered from severe life-threatening conditions. There was only one case of DVT which occurred after an initially negative phlebography. In a subgroup of 40 patients, who underwent iodine-125-fibrinogen scanning after phlebography, the study was positive in 9 cases. None of them presented with any evidence of DVT at follow-up phlebography. Contrast phlebography with iohexol is a safe and comfortable procedure. Low-osmolality nonionic contrast media are well tolerated by the patient.

Red cell esterase-d-polymorphism in the Veneto population.

630 individuals and 102 mother/child pairs from the Veneto provinces were examined for their red cell EsD by Cellogel electrophoresis. Compared with the horizontal starch-gel electrophoresis no differences in the zymogram patterns have been found. The gene frequencies observed (EsD1 = 0.8556; EsD2 = 0.1444) differ only slightly from those reorted for various European populations and are nearly identical with data for other Italian populations. Family studies confirmed the Mendelian co-dominant inheritance.