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1.
Animal ; 6(11): 1830-8, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-22717388

RESUMEN

Lactoferrin (LTF) is a milk glycoprotein favorably associated with the immune system of dairy cows. Somatic cell count is often used as an indicator of mastitis in dairy cows, but knowledge on the milk LTF content could aid in mastitis detection. An inexpensive, rapid and robust method to predict milk LTF is required. The aim of this study was to develop an equation to quantify the LTF content in bovine milk using mid-infrared (MIR) spectrometry. LTF was quantified by enzyme-linked immunosorbent assay (ELISA), and all milk samples were analyzed by MIR. After discarding samples with a coefficient of variation between 2 ELISA measurements of more than 5% and the spectral outliers, the calibration set consisted of 2499 samples from Belgium (n = 110), Ireland (n = 1658) and Scotland (n = 731). Six statistical methods were evaluated to develop the LTF equation. The best method yielded a cross-validation coefficient of determination for LTF of 0.71 and a cross-validation standard error of 50.55 mg/l of milk. An external validation was undertaken using an additional dataset containing 274 Walloon samples. The validation coefficient of determination was 0.60. To assess the usefulness of the MIR predicted LTF, four logistic regressions using somatic cell score (SCS) and MIR LTF were developed to predict the presence of mastitis. The dataset used to build the logistic regressions consisted of 275 mastitis records and 13 507 MIR data collected in 18 Walloon herds. The LTF and the interaction SCS × LTF effects were significant (P < 0.001 and P = 0.02, respectively). When only the predicted LTF was included in the model, the prediction of the presence of mastitis was not accurate despite a moderate correlation between SCS and LTF (r = 0.54). The specificity and the sensitivity of models were assessed using Walloon data (i.e. internal validation) and data collected from a research herd at the University of Wisconsin - Madison (i.e. 5886 Wisconsin MIR records related to 93 mastistis events - external validation). Model specificity was better when LTF was included in the regression along with SCS when compared with SCS alone. Correct classification of non-mastitis records was 95.44% and 92.05% from Wisconsin and Walloon data, respectively. The same conclusion was formulated from the Hosmer and Lemeshow test. In conclusion, this study confirms the possibility to quantify an LTF indicator from milk MIR spectra. It suggests the usefulness of this indicator associated to SCS to detect the presence of mastitis. Moreover, the knowledge of milk LTF could also improve the milk nutritional quality.


Asunto(s)
Lactoferrina/análisis , Mastitis Bovina/diagnóstico , Leche/química , Animales , Calibración , Bovinos , Ensayo de Inmunoadsorción Enzimática/veterinaria , Femenino , Reproducibilidad de los Resultados , Espectrofotometría Infrarroja/métodos , Espectrofotometría Infrarroja/veterinaria
2.
J Dairy Sci ; 93(9): 4391-7, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-20723713

RESUMEN

Random regression test-day models using Legendre polynomials are commonly used for the estimation of genetic parameters and genetic evaluation for test-day milk production traits. However, some researchers have reported that these models present some undesirable properties such as the overestimation of variances at the edges of lactation. Describing genetic variation of saturated fatty acids expressed in milk fat might require the testing of different models. Therefore, 3 different functions were used and compared to take into account the lactation curve: (1) Legendre polynomials with the same order as currently applied for genetic model for production traits; 2) linear splines with 10 knots; and 3) linear splines with the same 10 knots reduced to 3 parameters. The criteria used were Akaike's information and Bayesian information criteria, percentage square biases, and log-likelihood function. These criteria indentified Legendre polynomials and linear splines with 10 knots reduced to 3 parameters models as the most useful. Reducing more complex models using eigenvalues seemed appealing because the resulting models are less time demanding and can reduce convergence difficulties, because convergence properties also seemed to be improved. Finally, the results showed that the reduced spline model was very similar to the Legendre polynomials model.


Asunto(s)
Bovinos/genética , Ácidos Grasos/análisis , Leche/química , Animales , Teorema de Bayes , Bélgica , Ácidos Grasos/genética , Femenino , Variación Genética/genética , Lactancia/genética , Modelos Genéticos , Carácter Cuantitativo Heredable
3.
J Dairy Sci ; 92(5): 2151-8, 2009 May.
Artículo en Inglés | MEDLINE | ID: mdl-19389973

RESUMEN

Bovine lactoferrin (LF) is mainly present in milk and shows important physiological and biological functions. The aim of this study was to estimate the heritability and correlation values of LF content in bovine milk with different economic traits as milk yield (MY), fat and protein percentages, and somatic cell score (SCS). Variance components of the studied traits were estimated by REML using a multiple-trait mixed model. The obtained heritability (0.22) for LF content predicted using mid-infrared spectrometry (pLF) suggested the possibility of animal selection based on the increase of LF content in milk. The phenotypic and genetic correlation values calculated between pLF and SCS were moderate (0.31 and 0.24, respectively). Furthermore, a preliminary study of bovine LF gene polymorphism effects was performed on the same production traits. By PCR, all exons of the LF gene were amplified and then sequenced. Three new polymorphisms were detected in exon 2, exon 11, and intron 8. We examined the effects of LF gene polymorphisms of exons 2, 4, 9, 11, and 15, and intron 8 on pLF, MY, fat and protein percentages, and SCS. The different observed effects did not reach a significant level probably because of the characteristics of the studied population. However, the results were promising, and LF may be a potential indicator of mastitis. Further studies are necessary to evaluate the effect of genetic selection based on LF content on the improvement of mastitis resistance.


Asunto(s)
Bovinos/genética , Lactoferrina/química , Lactoferrina/genética , Leche/química , Animales , Grasas/análisis , Femenino , Frecuencia de los Genes , Lactancia/genética , Leche/citología , Proteínas de la Leche/análisis , Polimorfismo de Nucleótido Simple/genética , Espectrofotometría Infrarroja
4.
J Appl Genet ; 50(1): 29-39, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19193980

RESUMEN

The milk fatty acid (FA) profile is far from the optimal fat composition in regards to human health. The natural sources of variation, such as feeding or genetics, could be used to increase the concentrations of unsaturated fatty acids. The impact of feeding is well described. However, genetic effects on the milk FA composition begin to be extensively studied. This paper summarizes the available information about the genetic variability of FAs. The greatest breed differences in FA composition are observed between Holstein and Jersey milk. Milk fat of the latter breed contains higher concentrations of saturated FAs, especially short-chain FAs. The variation of the delta-9 desaturase activity estimated from specific FA ratios could explain partly these breed differences. The choice of a specific breed seems to be a possibility to improve the nutritional quality of milk fat. Generally, the proportions of FAs in milk are more heritable than the proportions of these same FAs in fat. Heritability estimates range from 0.00 to 0.54. The presence of some single nucleotide polymorphisms could explain partly the observed individual genetic variability. The polymorphisms detected on SCD1 and DGAT1 genes influence the milk FA composition. The SCD1 V allele increases the unsaturation of C16 and C18. The DGAT1 A allele is related to the unsaturation of C18. So, a combination of the molecular and quantitative approaches should be used to develop tools helping farmers in the selection of their animals to improve the nutritional quality of the produced milk fat.


Asunto(s)
Grasas de la Dieta/análisis , Ácidos Grasos/genética , Leche , Alelos , Animales , Bovinos , Diacilglicerol O-Acetiltransferasa/genética , Femenino , Análisis de los Alimentos , Técnicas Genéticas , Variación Genética , Modelos Genéticos , Especificidad de la Especie , Estearoil-CoA Desaturasa/genética
5.
J Dairy Sci ; 90(9): 4443-50, 2007 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-17699065

RESUMEN

The effects of lactoferrin (LF) on the immune system have already been shown by many studies. Unfortunately, the current methods used to measure LF levels in milk do not permit the study of the genetic variability of lactoferrin or the performance of routine genetic evaluations. The first aim of this research was to derive a calibration equation permitting the prediction of LF in milk by mid-infrared spectrometry (MIR). The calibration with partial least squares on 69 samples showed a ratio of standard error of cross-validation to standard deviation equal to 1.98. Based on this value, the calibration equation was used to establish an LF indicator trait (predicted LF; pLF) on a large number of milk samples (n = 7,690). A subsequent study of its variability was conducted, which confirmed that stage of lactation and lactation number influence the overall pLF level. Small differences in mean pLF among 7 dairy breeds were also observed. The pLF content of Jersey milk was significantly higher than that in Holstein milk. Therefore, the choice of breed could change the expected LF level. Heritability estimated for pLF was 19.7%. The genetic and phenotypic correlations between somatic cell score and pLF were 0.04 and 0.26, respectively. As somatic cell score increases in presence of mastitis, this observation seems to indicate that pLF, or a function of observed pLF, compared with expected LF might have potential as an indicator of mastitis. The negative genetic correlation (-0.36) between milk yield and pLF could indicate an undesirable effect of selection for high milk production on the overall LF level.


Asunto(s)
Bovinos/genética , Variación Genética/genética , Lactoferrina/análisis , Lactoferrina/genética , Leche/química , Espectrofotometría Infrarroja , Animales , Cruzamiento , Ensayo de Inmunoadsorción Enzimática , Grasas/análisis , Femenino , Proteínas de la Leche/análisis , Linaje , Carácter Cuantitativo Heredable
6.
Klin Padiatr ; 212(2): 81-2, 2000.
Artículo en Inglés | MEDLINE | ID: mdl-10812558

RESUMEN

We present the case of a teenager suffering from dorsal and lumbar pain. Imaging modalities diagnosed a lumbar retro-marginal anterior herniation and thoracic spondylitis. Such association has been reported twice in the literature.


Asunto(s)
Vértebras Lumbares , Osteomielitis/complicaciones , Enfermedad de Scheuermann/complicaciones , Espondilitis/complicaciones , Vértebras Torácicas , Adolescente , Humanos , Vértebras Lumbares/diagnóstico por imagen , Masculino , Osteomielitis/diagnóstico por imagen , Radiografía Torácica , Enfermedad de Scheuermann/diagnóstico por imagen , Espondilitis/diagnóstico por imagen , Supuración , Vértebras Torácicas/diagnóstico por imagen , Tomografía Computarizada por Rayos X
7.
Arch Ophthalmol ; 117(6): 805-10, 1999 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-10369594

RESUMEN

OBJECTIVE: To evaluate a family with autosomal dominant optic atrophy, which has been previously linked to the Kidd blood group. DESIGN: Clinical evaluation with the assessment of visual acuity, color vision, and optic nerve appearance to determine affection status. Linkage analysis using polymorphic DNA markers. RESULTS: Visual acuities ranged from 20/20 to 6/200. Although linkage was excluded for chromosome 3q28-29, markers from chromosome 18 in the vicinity of the Kidd locus were linked to the disorder (D18S34 [maximal lod score (lodmax) of 5.38 at recombination fraction (theta) of 0.14], D18S548 [lod(max)=7.26, theta=0.09], D18S861 [lod(max)= 5.32, theta = 0.07], and D18S479 [lod(max) = 3.28, 0 = 0.12:]). Multipoint linkage analysis demonstrated lod scores of greater than 3 in an approximately 3-centimorgan region flanked by D18S34 and D18S479, using 98% penetrance and a phenocopy rate of 1/50. CONCLUSIONS: Dominant optic atrophy is genetically heterogeneous, with loci assigned to chromosomes 3q28-29 and 18q12.2-12.3. Dominant optic atrophy linked to 18q shows intrafamilial variation similar to that previously reported in families linked to 3q, with visual acuities ranging from normal to legal blindness. The overall distribution of visual acuities appears more favorable with the 18q phenotype. Both phenotypes appear to have a similar rate of visual decline.


Asunto(s)
Cromosomas Humanos Par 18/genética , Heterogeneidad Genética , Atrofias Ópticas Hereditarias/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Cromosomas Humanos Par 3/genética , Percepción de Color/fisiología , ADN/análisis , Femenino , Ligamiento Genético/genética , Marcadores Genéticos , Genotipo , Humanos , Sistema del Grupo Sanguíneo de Kidd/genética , Escala de Lod , Masculino , Persona de Mediana Edad , Atrofias Ópticas Hereditarias/patología , Atrofias Ópticas Hereditarias/fisiopatología , Nervio Óptico/patología , Linaje , Agudeza Visual/fisiología
11.
J Radiol ; 79(8): 719-21, 1998 Aug.
Artículo en Francés | MEDLINE | ID: mdl-9757302

RESUMEN

The Institute of Scientific information has edited an index to evaluate the diffusion of scientific articles. It is based on the fact that the more an article is cited as a reference in other articles, the more it is considered to be important, and the higher the coefficient attributed to the journal in which it was originally published. The impact factor takes into account the average number of times which a journal is mentioned for recent articles published in a given year. This index is an attempt to quantify the notoriety of scientific journal for all scientific medical specialties.


Asunto(s)
Bibliometría , Radiología , Francia , Lenguaje , Publicaciones Periódicas como Asunto/estadística & datos numéricos , Edición/estadística & datos numéricos
12.
Am J Ophthalmol ; 125(1): 64-70, 1998 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-9437315

RESUMEN

PURPOSE: To describe the clinical features of a large pedigree with autosomal dominant congenital nystagmus linked to chromosome 6p12. METHODS: In a prospective evaluation of 54 living family members in a single pedigree, 21 persons were affected with autosomal dominant congenital nystagmus, and clinical examinations were performed on 14. Selected persons underwent further studies, including electroretinography, scanning laser ophthalmoscopy, nerve fiber layer studies, visual evoked potential studies, and eye movement recordings. RESULTS: Among seven affected persons whose parents were able to report whether the nystagmus was present congenitally, onset at birth was noted in two persons and between 3 and 6 months in five persons. Best-corrected binocular Snellen visual acuity ranged from 20/30 to 20/100, with a mode of 20/50. Strabismus was present in 14 examined patients (36%). Eye movement recordings, performed on five persons, included asymmetric pendular (three), asymmetric pendular combined with dual waveform jerk (one), and unidirectional jerk nystagmus (one). CONCLUSIONS: Autosomal dominant congenital nystagmus represents a disorder with variable expressivity. While onset is typically during infancy, it can be noted at birth. Intrafamilial variation in visual acuity, ocular alignment, and nystagmus waveform suggests a role for modifying influences on expression of disease.


Asunto(s)
Cromosomas Humanos Par 6/genética , Potenciales Evocados Visuales , Ligamiento Genético , Nistagmo Patológico/congénito , Nistagmo Patológico/patología , Adulto , Anciano , Preescolar , Electronistagmografía , Electrorretinografía , Movimientos Oculares/fisiología , Femenino , Humanos , Masculino , Fibras Nerviosas/fisiología , Nistagmo Patológico/genética , Nistagmo Patológico/fisiopatología , Oftalmoscopía , Nervio Óptico/fisiología , Linaje , Estudios Prospectivos , Retina/fisiopatología , Agudeza Visual/fisiología
14.
Klin Padiatr ; 209(2): 78-83, 1997.
Artículo en Inglés | MEDLINE | ID: mdl-9113620

RESUMEN

In case of painful scoliosis, a search for etiologic factors in the vertebral spinal canal and adjacent structures should be made. MRI with Gadolinium is useful to look for various pathology in and around the spine in particular of spinal cord. CT scanning is indispensible for bony details. Thus CT and MRI are complementary in evaluation of pathology of spine in any modern imaging centers.


Asunto(s)
Dolor de Espalda/etiología , Escoliosis/etiología , Enfermedades de la Columna Vertebral/complicaciones , Adolescente , Dolor de Espalda/diagnóstico , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Escoliosis/diagnóstico , Enfermedades de la Columna Vertebral/diagnóstico , Tomografía Computarizada por Rayos X
15.
Bull Soc Belge Ophtalmol ; 267: 107-11, 1997.
Artículo en Francés | MEDLINE | ID: mdl-9745820

RESUMEN

A severe case of retinal vascular occlusion in a 31 year old white female is reported. Its origin is attributed to the primary antiphospholipid syndrome. The diagnostic criteria and the treatment of the primary antiphospholipid syndrome are revised and discussed. When the etiology of a retinal vascular occlusion is not assessed by the initial work-up, especially if the initial presentation consists of a severe occlusive disease, antiphospholipid antibodies should be checked.


Asunto(s)
Síndrome Antifosfolípido/diagnóstico , Oclusión de la Arteria Retiniana/diagnóstico , Adulto , Síndrome Antifosfolípido/complicaciones , Femenino , Humanos , Oclusión de la Arteria Retiniana/inmunología
17.
Can Assoc Radiol J ; 47(4): 260-4, 1996 Aug.
Artículo en Francés | MEDLINE | ID: mdl-8696992

RESUMEN

The authors describe an infant with an aneurysm of the right iliac artery, associated with three sites involving the inferior mesenteric artery and its first two branches, most likely related to an episode of chicken pox. Helical angiography with computed tomography, performed with a continuous-rotation scanner, allowed precise assessment of the lesions, in particular those affecting the inferior mesenteric artery.


Asunto(s)
Angiografía , Aneurisma Ilíaco/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Aneurisma/diagnóstico por imagen , Varicela/complicaciones , Medios de Contraste , Humanos , Lactante , Yoduros , Masculino , Arteria Mesentérica Inferior/diagnóstico por imagen , Intensificación de Imagen Radiográfica
18.
Rev Mal Respir ; 13(3): 287-93, 1996 Jul.
Artículo en Francés | MEDLINE | ID: mdl-8765922

RESUMEN

On the basis of personal observation of four cases, the authors discuss the diagnostic aspects in this disease. Before birth, the diagnosis should be made by echography. After birth, magnetic resonance imaging scanning (IRM) is the method showing two types of cystic lymphangioma; a monomorphic and a polymorphic type. IRM is particularly valuable for the assessment of the extent of the disease all the more so as these tumours are often infiltrating. One should also recognise cervicomediastinal lymphangiomas which are more frequent in the very young and in whom the diagnosis is easy but one should not ignore the mediastinal component and those lymphangiomas which are purely mediastinal.


Asunto(s)
Linfangioma Quístico/diagnóstico , Neoplasias del Mediastino/diagnóstico , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Enfermedades Fetales/diagnóstico por imagen , Humanos , Recién Nacido , Linfangioma Quístico/diagnóstico por imagen , Linfangioma Quístico/patología , Imagen por Resonancia Magnética , Masculino , Neoplasias del Mediastino/diagnóstico por imagen , Neoplasias del Mediastino/patología , Invasividad Neoplásica , Recurrencia Local de Neoplasia , Embarazo , Ultrasonografía Prenatal
19.
Genomics ; 33(3): 523-6, 1996 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-8661013

RESUMEN

Congenital nystagmus is an idiopathic disorder characterized by bilateral ocular oscillations usually manifest during infancy. Vision is typically decreased due to slippage of images across the fovea. As such, visual acuity correlates with nystagmus intensity, which is the amplitude and frequency of eye movements at a given position of gaze. X-linked, autosomal dominant, and autosomal recessive pedigrees have been described, but no mapping studies have been published. We recently described a large pedigree with autosomal dominant congenital nystagmus. A genome-wide search resulted in six markers on 6p linked by two-point analysis at theta = 0 (D6S459, D6S452, D6S465, FTHP1, D6S257, D6S430). Haplotype analysis localizes the gene for autosomal dominant congenital motor nystagmus to an 18-cM region between D6S271 and D6S455.


Asunto(s)
Cromosomas Humanos Par 6 , Genes Dominantes , Nistagmo Patológico/genética , Cromosoma X , Mapeo Cromosómico , Cromosomas Humanos Par 15 , Cromosomas Humanos Par 7 , Femenino , Genes Recesivos , Ligamiento Genético , Marcadores Genéticos , Haplotipos , Humanos , Lactante , Recién Nacido , Masculino , Nistagmo Patológico/fisiopatología , Linaje , Translocación Genética
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