Near Infrared Spectroscopy (NIRS) for the determination of the milk fat fatty acid profile of goats.

Milk fatty acid (FA) composition is important for the goat dairy industry because of its influence on cheese properties and human health. The aim of the present work was to evaluate the feasibility of NIRS reflectance (oven-dried milk using the DESIR method) and transflectance (liquid milk) analysis to predict milk FA profile and groups of fats in milk samples from individual goats. NIRS analysis of milk samples allowed to estimate FA contents and their ratios and indexes in fat with high precision and accuracy. In general, transflectance analysis gave better or similar results than reflectance mode. Interestingly, NIRS analysis allowed direct prediction of the Atherogenicity and Thrombogenicity indexes, which are useful for the interpretation of the nutritional value of goat milk. Therefore, the calibrations obtained in the present work confirm the viability of NIRS as a fast, reliable and effective analytical method to provide nutritional information of milk samples.

Successful ultrarapid cryopreservation of wild Iberian ibex (Capra pyrenaica) spermatozoa.

A method for cryopreserving wild ibex sperm at high cooling rates was developed. To design a freezing solution based on Tris, citric acid, and glucose (TCG), two preliminary experiments were performed using glycerol (GLY) and dimethyl sulfoxide (DMSO) at different concentrations (5%, 10%, 20%). The 10% GLY + 10% DMSO combination reduced (P < 0.05) frozen-thawed sperm motility, which reached a minimum when 20% GLY + 20% DMSO was used. In the second experiment, sperm tolerance to three sucrose concentrations was evaluated (100-mM sucrose, 300-mM sucrose, 500-mM sucrose). Frozen-thawed sperm motility and sperm viability decreased (P < 0.05) at concentrations above 300 mM. The ultrarapid cooling procedure finally used involved a TCG egg yolk (ey)-based extender with 100-mM sucrose, either alone or with 5% GLY with or without BSA. Two warming procedures (37 °C vs. 60 °C) were also evaluated. The TCG ey with 100-mM sucrose but without GLY/BSA returned the best sperm quality variables. Slow warming at 37 °C strongly affected (P < 0.05) sperm motility and viability in all groups. Sperm selection by density gradient centrifugation produced no motile sperm when slow warming was performed. In contrast, when fast warming was used, sperm selection increased (P < 0.05) percentage of motility, viability, and the percentage of sperms with intact acrosomes. Heterologous in vivo fertilization involving domestic goats was performed to evaluate the in vivo fertilization capacity of the ultrarapidly cooled cryopreserved sperm (in TCG-ey + 100 mM sucrose), with warming undertaken at 60 °C. Inseminations of domestic goats resulted in three pregnancies (3 of 16, 18.7% fertility). In conclusion, ibex spermatozoa are strongly sensitive to high concentrations of permeable cryoprotectants and sucrose. However, the combination of ultrarapid cooling, using TCG-ey + 100-mM sucrose, and fast warming at 60 °C, followed by sperm selection by density gradient centrifugation to collect the motile sperm, has a positive effect on sperm viability.

Identification of two paralogous caprine CD36 genes that display highly divergent mRNA expression profiles.

The CD36 molecule plays a pivotal role in a variety of immunological and cellular processes, including pathogen recognition, inflammation and apoptosis. Herein, we demonstrate that this gene is duplicated in goats, with two copies (CD36 and CD36-like) that display highly divergent mRNA expression profiles. In this way, CD36 mRNA is mostly expressed in the adipose tissue and heart whilst CD36-like mRNA shows a high expression in the liver. We have also found evidence of the presence of two paralogous CD36 and CD36-like genes in the bovine genome, suggesting that CD36 duplication took place before goat-cattle radiation, i.e. at least 20 MYR ago. Finally, we have characterized the polymorphism of the coding regions of the goat CD36 and CD36-like genes. In doing so, we have identified one synonymous polymorphism at the CD36-like gene (c.390A>C) that displays a significant association (P=0.04) with milk somatic cell count, a parameter often used to diagnose mastitis in domestic ruminants.

Association between the polymorphism of the goat stearoyl-CoA desaturase 1 (SCD1) gene and milk fatty acid composition in Murciano-Granadina goats.

Genetic variability of the caprine stearoyl-CoA desaturase 1 (SCD1) gene has been investigated by sequencing a 4.7-kb cDNA in 6 goats from the Murciano-Granadina and Malagueña breeds. Sequence alignment revealed the existence of one synonymous polymorphism at exon 5 (c.732C>T) and one nucleotide substitution (c.*3504G>A) at exon 6 that encodes the 3' untranslated region (UTR). Moreover, the existence of a previously reported 3'UTR polymorphism involving a 3-bp indel (c.*1902_1904delTGT) was confirmed. Single nucleotide polymorphism and haplotype-based association analyses revealed suggestive associations between genetic variability of the SCD1 locus and lactose, stearic, polyunsaturated, and conjugated linoleic fatty acid contents. Associations with milk fatty acid composition might be explained by the global effects that SCD1 exerts on mammary gland lipid metabolism through the down-modulation of key transcription factors. Interestingly, the performance of an in silico analysis revealed that the c.*1902_1904delTGT polymorphism involves a considerable change in the secondary structure of the SCD1 mRNA. Gene reporter assays and quantitative PCR analysis would be needed to assess if this mutation has a causal effect on milk polyunsaturated and conjugated linoleic fatty acid levels by altering the amount of SCD1 transcripts in mammary epithelial cells.

Pleiotropic effects of the goat prolactin receptor genotype on milk fatty acid composition.

In the lactating mammary gland, prolactin (PRL) stimulates the synthesis of lactose as well as fatty acid uptake, lipogenesis, and triacylglycerol synthesis. Associations between bovine PRL receptor (PRLR) genotype and fat yield have been reported, which illustrates the role of PRL in conveying lipids toward the udder as well as in stimulating their local synthesis during lactation. Conversely, and to the best of our knowledge, the effects of PRLR genotype on milk fatty acid content have not been studied so far in any mammalian species. In this study, we sequenced most of the coding region of the caprine PRLR gene in several individuals from the Malagueña and Murciano-Granadina breeds. This approach allowed us to identify 2 long and short mRNA isoforms, produced by alternative splicing, and 4 single-nucleotide polymorphisms (SNPs), namely, c.177T>C, c.1131G>A, c.1201G>A and c.1355C>T. Two of these SNPs are nonsynonymous and involve G401R (c.1201G>A) and T452I (c.1355C>T) amino acid substitutions in the cytoplasmic domain of PRLR, which plays a fundamental role in signal transduction. Performance of an association analysis with milk composition traits in a Murciano-Granadina goat population revealed highly suggestive effects on palmitoleic acid content, whereas suggestive effects were detected for other fatty acids, such as palmitic and linoleic. These results are consistent with the pleiotropic effects of PRL on mammary gland lipid metabolism and milk composition.

Short communication: genetic variability in the predicted microRNA target sites of caprine casein genes.

The main goal of the current work was to identify single nucleotide polymorphisms (SNP) that might create or disrupt microRNA (miRNA) target sites in the caprine casein genes. The 3' untranslated regions of the goat alpha(S1)-, alpha(S2)-, beta-, and kappa-casein genes (CSN1S1, CSN1S2, CSN2, and CSN3, respectively) were resequenced in 25 individuals of the Murciano-Granadina, Cashmere, Canarian, Saanen, and Sahelian breeds. Five SNP were identified through this strategy: c.175C>T at CSN1S1; c.109T>C, c.139G>C, and c.160T>C at CSN1S2; and c.216C>T at CSN2. Analysis with the Patrocles Finder tool predicted that all of these SNP are located within regions complementary to the seed of diverse miRNA sequences. These in silico results suggest that polymorphism at miRNA target sites might have some effect on casein expression. We explored this issue by genotyping the c.175C>T SNP (CSN1S1) in 85 Murciano-Granadina goats with records for milk CSN1S1 concentrations. This substitution destroys a putative target site for miR-101, a miRNA known to be expressed in the bovine mammary gland. Although TT goats had higher levels (6.25 g/L) of CSN1S1 than their CT (6.05 g/L) and CC (6.04 g/L) counterparts, these differences were not significant. Experimental confirmation of the miRNA target sites predicted in the current work and performance of additional association analyses in other goat populations will be an essential step to find out if polymorphic miRNA target sites constitute an important source of variation in casein expression.

Polymorphism of the caprine malic enzyme 1 ( ME1) gene and its association with milk quality traits in Murciano-Granadina goats.

Malic enzyme 1 plays a fundamental role in lipid metabolism because it yields a significant amount of the NADPH necessary for fatty acid biosynthesis. In ruminants, however, its contribution to this biochemical process seems to be less relevant than in other livestock species. In this study, we have partially sequenced the goat ME1 gene with the aim of identifying polymorphic sites. Structural analysis of the goat ME1 amino acid partial sequence evidenced the existence of two dinucleotide-binding motifs, located at positions 158 to 163 (GLGDLG) and 301 to 306 (GAGEAA), and three amino acid residues (E245, D246 and D269) involved in the binding of Mn2+ and strongly conserved among mammalian species. Moreover, multiple sequence alignment allowed us to identify four single nucleotide polymorphisms at exons 5 (c.483C > T), 6 (c.667G > A), 9 (c.927C > T) and 11 (c.1200G > A). The effects of ME1 genotype on milk production and composition traits were investigated in a Murciano-Granadina goat population. None of the associations found reached statistical significance after applying Benjamini-Hochberg correction. At most, associations with uncorrected P-values below 0.01 were observed for C16:0, C18:1n-9t and total conjugated linoleic acids. These negative results reinforce the notion that ME1 plays an ancillary role in ruminant lipogenesis.

Short communication: Effect of alphaS1-casein (CSN1S1) and kappa-casein (CSN3) genotypes on milk composition in Murciano-Granadina goats.

The effects of the caprine alpha(S1)-casein (CSN1S1) polymorphisms on milk quality have been widely demonstrated. However, much less is known about the consequences of the kappa-casein (CSN3) genotype on milk composition in goats. Moreover, the occurrence of interactions between CSN3 and CSN1S1 genotypes has not been investigated. In this study, an association analysis between CSN1S1 and CSN3 genotypes and milk quality traits was performed in 89 Murciano-Granadina goats. Total milk yield as well as total protein, fat, solids-not-fat, lactose, alpha(S1)-casein (CSN1S1), and alpha(S2)-casein (CSN1S2) contents were recorded every other month during a whole lactation (316 observations). Data analysis using a linear mixed model for repeated observations revealed no interaction between the CSN1S1 and CSN3 genotypes. With regard to the effect of the CSN3 locus, AB and BB genotypes were significantly associated with higher levels of total casein and protein content compared with the AA CSN3 genotype. In strong contrast with French breeds, the CSN1S1 genotype did not affect protein, casein, and fat concentrations in Murciano-Granadina goats. These results highlight the importance of taking into consideration the CSN3 genotype when performing selection for milk composition in dairy goats.

[A prospective study of neurodevelopment of uninfected children born to human immunodeficiency virus type 1 positive mothers]. / Estudio prospectivo comparativo sobre el desarrollo psicomotor de niños, nacidos de madres positivas para el virus de inmunodeficiencia humana tipo 1 no infectados.

INTRODUCTION: The human immunodeficiency virus type 1 (HIV-1) has tropism for the immune and central nervous systems (CNS). Intrauterine exposure to HIV-1 induces immunological alterations, independent of infection that might affect the development of the CNS. Similarly, the intrauterine exposure to antiretrovirals might also affect the neurodevelopment. AIM: To evaluate the neurodevelopment of babies born to HIV-1 positive mothers (exposed) and compare with babies born to HIV-1 negative mothers (unexposed). SUBJECTS AND METHODS: We carried-out an observational prospective study of neurodevelopment of 23 exposed and 20 unexposed children using the infant development scale Bayley-II, and the Denver-II test, neurological examination and anthropometric measurements during the first two years of life. RESULTS: None of the exposed babies acquired the infection. At one month of age the exposed babies exhibit normal but statistically lower values in the head circumference, compared to unexposed neonates. No differences were found in the psychomotor development index between both studied groups and exposed babies exhibited a lower mental development index but only at six months of age. The exposed babies exhibited a higher number of alterations during the neurological and Denver-II tests without reaching significant differences. CONCLUSIONS: The results suggest that intrauterine exposure to HIV-1 and to antiretrovirals in uninfected children born to HIV-1 positive mothers does not induce alterations in the neurodevelopment, at least during the first two years of life.

Estudio prospectivo comparativo sobre el desarrollo psicomotor de niños, nacidos de madres positivas para el virus de inmunodeficiencia humana tipo 1 no infectados / A prospective study of neurodevelopment of uninfected children born to human inmunodeficiency virus type 1 positive mothers

Introducción. El virus de inmunodeficiencia humana tipo 1 (VIH-1) tiene tropismo por células del sistema inmune y del sistema nervioso central (SNC). La exposición intrauterina al VIH-1 causa alteraciones inmunológicas, con independencia de que el recién nacido adquiera la infección, que pueden afectar al desarrollo del SNC; además, la exposición a los antirretrovirales puede también afectar al desarrollo psicomotor. Objetivo. Evaluar el desarrollo psicomotor en niños nacidos de madres VIH-1 positivas (expuestos), y compararlos con niños sin el antecedente de la exposición al VIH-1. Sujetos y métodos. Se realizó un estudio prospectivo observacional acerca del desarrollo psicomotor de 23 niños expuestos y 20 niños no expuestos, empleando la escala de Bayley-II, el test de Denver-II y un examen neurológico, durante los primeros dos años de vida. Resultados. Los niños expuestos continuaron sin presentar la infección. Al mes de edad, los niños expuestos tuvieron valores de perímetro cefálico normales, pero menores, que los niños no expuestos. No se detectaron diferencias en el índice de desarrollo psicomotor, y el índice de desarrollo mental, sólo en el sexto mes, fue significativamente menor en los niños con exposición al VIH-1. El grupo de niños expuestos presentó más alteraciones en el test de Denver-II y en el examen neurológico, aunque sin alcanzar diferencias significativas. Conclusiones. Los resultados indican que la exposición intrauterina al VIH-1 y a los antirretrovirales de los niños que no adquieren la infección no causa alteraciones del desarrollo psicomotor al menos durante los primeros dos años de vida (AU)

Introduction. The human immunodeficiency virus type 1 (HIV-1) has tropism for the immune and central nervous systems (CNS). Intrauterine exposure to HIV-1 induces immunological alterations, independent of infection that might affect the development of the CNS. Similarly, the intrauterine exposure to antiretrovirals might also affect the neurodevelopment. Aim. To evaluate the neurodevelopment of babies born to HIV-1 positive mothers (exposed) and compare with babies born to HIV-1 negative mothers (unexposed). Subjects and methods. We carried-out an observational prospective study of neurodevelopment of 23 exposed and 20 unexposed children using the infant development scale Bayley-II, and the Denver-II test, neurological examination and anthropometric measurements during the first two years of life. Results. None of the exposed babies acquired the infection. At one month of age the exposed babies exhibit normal but statistically lower values in the head circumference, compared to unexposed neonates. No differences were found in the psychomotor development index between both studied groups and exposed babies exhibited a lower mental development index but only at six months of age. The exposed babies exhibited a higher number of alterations during the neurological and Denver-II tests without reaching significant differences. Conclusions. The results suggest that intrauterine exposure to HIV-1 and to antiretrovirals in uninfected children born to HIV-1 positive mothers does not induce alterations in the neurodevelopment, at least during the first two years of life (AU)

[Phenotypic characterisation of 35 Colombian children with an imaging diagnosis of schizencephaly]. / Caracterización fenotípica de 35 niños colombianos con diagnóstico imaginológico de esquisencefalia.

INTRODUCTION: Schizencephaly is the most frequent neuronal migration disorder. It is classified according to the type of lip (closed or open). Clinical features vary from the asymptomatic patient to severe neurological compromise. AIM: To describe the clinical characteristics of children who have been diagnosed with schizencephaly and their correlation with radiological findings. PATIENTS AND METHODS: Thirty-five Colombian children (17 males and 18 females) with a neuroimaging diagnosis at a mean age of 20.2 months were characterised phenotypically. RESULTS: A history of perinatal events such as neonatal asphyxia (21.6%) and meconium-stained amniotic fluid (10.8%) were detected, together with maternal histories of failure to attend prenatal check-ups (34.3%), risk of preterm labour (10.8%) and smoking (10.8%). Familial histories of neurological diseases included epilepsy (14.3%) and mental retardation (5.7%). The open-lip type was predominant (60%) and was twice a common as the closed-lip type. Unilateral cases accounted for 62.9% of the total number, with a distribution between the two hemispheres in the same proportion, and 37.1% of cases were bilateral. The frontal lobe that was the most commonly involved. The most frequent manifestations were delayed psychomotor development (80%) and infantile cerebral palsy (80%). Epilepsy was present in 37.1% of cases and the predominant type of seizure was complex focal. CONCLUSIONS: Tendencies similar to those reported in other series were observed, although with some differences, such as the higher mean age at the time of diagnosis and the lower incidence of resistant epilepsy. Limited access to prenatal check-ups, open-lip presentation, associated malformations and poor response to treatment seem to exacerbate the prognosis.

Caracterización fenotípica de 35 niños colombianos con diagnóstico imaginológico de esquisencefalia / Phenotypic characterisation of 35 colombian children with imaging diagnosis of schizencephaly

Introducción. La esquisencefalia es el trastorno más frecuente de la migración neuronal. Se clasifica según el tipo de labio (cerrado o abierto). La clínica es variada, desde el paciente asintomático hasta la afectación neurológica grave. Objetivo. Describir las características clínicas de niños con diagnóstico de esquisencefalia y su correlación con los hallazgos radiológicos.Pacientes y métodos. Se caracterizan fenotípicamente 35 niños colombianos (17 de sexo masculino y 18 de sexo femenino) con diagnóstico por neuroimagen a la edad media de 20,2 meses. Resultados. Se detectan antecedentes perinatalescomo asfixia neonatal (21,6%) y líquido amniótico meconiado (10,8%), y antecedentes maternos como la ausencia de control prenatal (34,3%), riesgo de parto pretérmino (10,8%) y tabaquismo (10,8%). Entre los antecedentes familiares de enfermedad neurológica, destacaron la epilepsia (14,3%) y el retraso mental (5,7%). El tipo de lesión predominante fue la de labio abierto (60%), que dobló en frecuencia a la de labio cerrado. El 62,9% fue unilateral, con una distribución hemisférica en igual proporción, y el 37,1% presentó localización bilateral. El lóbulo cerebral más habitualmente afectado fue el frontal. Las manifestaciones más frecuentes fueron retraso del desarrollo psicomotor (80%) y parálisis cerebral infantil (80%). La epilepsia se presentó en el 37,1% de los casos y la crisis predominante fue la focal compleja. Conclusiones. Se observan tendencias similaresa otras series publicadas, aunque con algunas diferencias, como la mayor edad media en el momento del diagnóstico y la menor incidencia de epilepsia rebelde. Parecen empeorar el pronóstico el acceso limitado al control prenatal, la presentación de labio abierto, las malformaciones asociadas y la mala respuesta al tratamiento

Introduction. Schizencephaly is the most frequent neuronal migration disorder. It is classified according to the type of lip (closed or open). Clinical features vary from the asymptomatic patient to severe neurological compromise. Aim. To describe the clinical characteristics of children who have been diagnosed with schizencephaly and their correlation with radiological findings. Patients and methods. Thirty-five Colombian children (17 males and 18 females) with a neuroimagingdiagnosis at a mean age of 20.2 months were characterised phenotypically. Results. A history of perinatal events such as neonatal asphyxia (21.6%) and meconium-stained amniotic fluid (10.8%) were detected, together with maternal histories of failure to attend prenatal check-ups (34.3%), risk of preterm labour (10.8%) and smoking (10.8%). Familial histories of neurological diseases included epilepsy (14.3%) and mental retardation (5.7%). The open-lip type was predominant (60%) and was twice a common as the closed-lip type. Unilateral cases accounted for 62.9% of the total number, with a distribution between the two hemispheres in the same proportion, and 37.1% of cases were bilateral. The frontal lobe that was the mostcommonly involved. The most frequent manifestations were delayed psychomotor development (80%) and infantile cerebral palsy (80%). Epilepsy was present in 37.1% of cases and the predominant type of seizure was complex focal. Conclusions. Tendencies similar to those reported in other series were observed, although with some differences, such as the higher mean age at the time of diagnosis and the lower incidence of resistant epilepsy. Limited access to prenatal check-ups, open-lip presentation, associated malformations and poor response to treatment seem to exacerbate the prognosis

New estrus synchronization and artificial insemination protocol for goats based on male exposure, progesterone and cloprostenol during the non-breeding season.

This study assesses the effectiveness of a method designed to induce and synchronize ovulation in goats during the non-breeding season, allowing for systematic timed artificial insemination (AI), without the need for prior estrus detection. This method (IMA.PRO2) induces ovulation through the "male effect" and a single 25 mg dose of progesterone given at the time of buck exposure, and early lysis of the induced corpus luteum by the administration of 75 microg of cloprostenol 9 days later. The method was tested in three separate experiments. In experiment 1, estrus was detected in 87.5% of the treated goats 37.0 +/- 1.4 h after cloprostenol administration, with the preovulatory LH surge occurring 40.5 +/- 1.6 h after the cloprostenol injection. In experiment 2, data from 503 does revealed no significant differences in fertility rates between two groups inseminated 48 h (65.5+/-4.0%) or 52 h (63+/-3.0%) after receiving cloprostenol. In experiment 3, 2184 does, comprising 37 replicate groups on 12 farms, were randomly assigned to two trial subgroups. Does in the first subgroup were treated with the IMA.PRO2 method and goats from the second group were given intravaginal progestagens for 11 days, plus 350 IU of eCG and 75 microg of cloprostenol on Day 9 of this treatment. Goats from both subgroups were cervically inseminated at the same time, 50 h after cloprostenol administration in the first group and 46 h after sponge removal in the second. The pregnancy rate achieved with the new method was 64.6%, significantly higher than the yield observed for the use of progestagens plus eCG (46.8%, P<0.01). The simple method proposed as an alternative to the use of progestagen-eCG treatment provides good pregnancy rates to AI undertaken at a fixed time point, and reduces the amount of hormone needed to synchronize estrus in the animals.

Short communication: Identification of two polymorphisms in the goat lipoprotein lipase gene and their association with milk production traits.

Lipoprotein lipase (LPL) is a glycoprotein that plays a central role in plasma triglyceride metabolism by hydrolyzing triglyceride-rich chylomicrons and very low density lipoproteins. The activity of milk LPL has been shown to differ among several goat breeds, suggesting the existence of a genetic polymorphism influencing the functional properties of this enzyme. We have characterized the complete coding sequence of the goat LPL gene in 18 individuals belonging to 3 breeds. The coding region of the goat LPL cDNA was 1,437 bp long and encoded a protein of 478 amino acids. Moreover, we have identified 2 single nucleotide polymorphisms (SNP) including a G50C missense mutation, which involved a Ser-->Thr amino acid replacement at position 17 of the signal peptide, and a C2094T substitution in the 3' untranslated region. A univariate mixed model was used to evaluate the association between LPL genotypes and milk production and composition in 130 Murciano-Granadina goats. The G50C SNP was suggestively associated with milk fat content and tended to affect the milk dry weight basis. The C2094T SNP was not associated with any of the measured traits.

Goat acetyl-coenzyme A carboxylase alpha: molecular characterization, polymorphism, and association with milk traits.

Acetyl-coenzyme A carboxylase alpha (ACACA), the major regulatory enzyme of fatty acid biosynthesis, catalyzes the conversion of acetyl-CoA to malonyl-CoA. We have sequenced 5.5 kb of the goat ACACA cDNA in 18 individuals. The translated cDNA sequence encodes 1,832 AA and shares a high AA identity (99%) with the ovine and bovine ACACA orthologous sequences. One silent single nucleotide polymorphism was identified at exon 45 (C5493T). The genotyping of this polymorphism in 4 goat breeds, Murciano-Granadina, Teramana, Majorera, and Malagueña, showed that it was segregating in all 4 breeds at variable frequencies. In addition, a mixed animal model was used to evaluate the association of C5493T genotypes with milk traits. Results from this study show that the C5493T mutation was suggestively associated with fat yield, lactose content, and somatic cell count.

Oestrous behaviour and development of preovulatory follicles in goats induced to ovulate using the male effect with and without progesterone priming.

The objective of the current study was to examine follicular dynamics in goats induced to ovulate by using the male effect with or without progesterone pretreatment. Ten Murcian-Granadina goats were treated with a single dose of 25 mg of progesterone in olive oil on the day of male effect induction (Day 0), whereas ten does remained untreated. Changes in the ovarian follicular population and onset of oestrous behaviour were checked daily from Day 0 to the day on which ovulation was detected by ultrasonography. All of the treated goats and only 20% of control goats (P < 0.001) showed oestrous behaviour between 72 and 96 h after the introduction of bucks. Differences in follicle growth were found between the groups. The control goats exhibiting oestrous behaviour during the first 4 days of ovarian screening and all of the goats treated with progesterone had their preovulatory follicles in growing phase. However, the largest follicles in control does not showing oestrus in these first 4 days were in regressing phase, being necessary for the emergence of new preovulatory follicles from a new follicular wave between Days 6 and 7, for exhibition of oestrous behaviour and subsequent ovulation. In conclusion, the appearance of short luteal phases and delayed ovulation in goats treated with the male effect during seasonal anoestrous depends on the stage of follicle development at the time of buck introduction. A single injection of progesterone stimulates the emergence of a new follicular wave, able to grow and give adequate ovulation after induction of the male effect.

[Genetic linkage analysis of Gilles de la Tourette Syndrome in a Colombian family]. / Análisis de ligamiento genético del síndrome de Gilles de la Tourette en una familia colombiana.

INTRODUCTION: Gilles de la Tourette Syndrome (GTS) is a chronic neuropsychiatric disorder characterized by phonic and motor tics. Although its physiopathologic bases are unknown, the cortical-striatal-thalamic-cortical circuit has been studied. The association of GTS with attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), motors tics (MT) or phonics tics (PT), the high family aggregation, and the concordance studies in twins, support the genetics bases of this disorder. Currently, GTS is accepted as a complex disorder and the associated disorders could be alternative expressions of the same syndrome. AIM: To evaluate genetic linkage to 2p11, 6p24, 11q23, 20q13 and 21q22 regions in an Antioquian family with enough power to detect linkage. PATIENTS AND METHODS: With the Linkage program and using autosomic dominant, recessive and additive inheritance models, the genetic linkage was calculated; two phenotypic spectra was considered: one broad spectrum including affected individuals with GTS, ADHD, OCD, MT, and PT, and a narrow spectrum with only GTS. RESULTS: The most probable inheritance pattern for a susceptibility locus in GTS and its associated disorders in this family is autosomic additive. The presence of a locus involved in GTS in the 2p11 region has been rejected. CONCLUSION: The linkage values for D20S1085 and D6S477 markers are suggestive and therefore it is not possible reject that these markers will be in linkage disequilibrium with genes involved in the GTS, ADHD, OCD, MT, and PT etiology.

Análisis de ligamiento genético del síndrome de Gilles de la Tourette en una familia colombiana / Genetic linkage analysis of Gilles de la Tourette syndrome in a colombian family

Introducción. El síndrome de Gilles de la Tourette (SGT) es un trastorno neuropsiquiátrico crónico caracterizado por la presencia de tics fónicos y motores. Aunque sus causas fisiopatológicas se desconocen, se ha involucrado al circuito corticoestriado-talamocortical. La evidencia genética del SGT se sustenta por estudios de concordancia entre gemelos, por su alta agregación familiar y por su asociación con el trastorno-obsesivo compulsivo (TOC), el trastorno de déficit de atención con hiperactividad (TDAH) y los tics motores (TM) o fónicos (TF). Actualmente se acepta que el SGT es una enfermedad compleja y los trastornos asociados pueden ser expresiones alternativas del mismo síndrome. Objetivo. Evaluar el ligamiento genético en las regiones 2p11, 6p24, 11q23, 20q13 y 21q22, en una familia antioqueña con suficiente poder para detectar ligamiento. Pacientes y métodos. Mediante el programa Linkage se calculó el ligamiento genético bajo los modelos de herencia autosómico dominante, recesivo y aditivo, y se evaluaron dos espectros fenotípicos: uno amplio que incluía como afectados a individuos con SGT, TDAH, TOC, TM, y TF, y uno estrecho que incluía sólo a individuos con SGT. Resultados. El patrón de herencia más probable para un locus de susceptibilidad al SGT y sus trastornos asociados, en esta familia, es el autosómico aditivo. Se descarta la presencia de un locus involucrado en SGT en la región 2p11. Conclusión. Los valores de ligamiento obtenidos con los marcadores D20S1085 y D6S477 son sugestivos y, por lo tanto, no se puede descartar que estos marcadores se encuentren en desequilibrio de ligamiento con genes involucrados en la etiología del SGT, TDAH, TOC, TM, y TF (AU)

Introduction. Gilles de la Tourette Syndrome (GTS) is a cronic neuropsychiatric disorder characterized by fonic and motor tics. Although its physiopathologic bases are unknown, the cortical-striatal-talamic-cortical circuit has been studied. The association of GTS with attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), motors tics (MT) or phonics tics (PT), the high family aggregation, and the concordance studies in twins, support the genetics bases of this disorder. Currently, GTS is accepted as a complex disorder and the associated disorders could be alternative expressions of the same syndrome. Aim. To evaluate genetic linkage to 2p11, 6p24, 11q23, 20q13 and 21q22 regions in an Antioquian family with enough power to detect linkage. Patients and methods. With the Linkage program and using autosomic dominant, recessive and additive inheritance models, the genetic linkage was calculated; two phenotypic spectra was considered: one broad spectrum including affected individuals with GTS, ADHD, OCD, MT, and PT, and a narrow spectrum with only GTS. Results. The most probable inheritance pattern for a susceptibility locus in GTS and its associated disorders in this family is autosomic additive. The presence of a locus involved in GTS in the 2p11 region has been rejected. Conclusion. The linkage values for D20S1085 and D6S477 markers are suggestive and therefore it is not possible reject that these markers will be in linkage disequilibrium with genes involved in the GTS, ADHD, OCD, MT, and PT etiology (AU)

[Prevalence of attention deficit hyperactivity disorder in Colombian children and teenagers]. / Prevalencia del trastorno por déficit de atención-hiperactividad en niños y adolescentes colombianos.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is the most common neurobehavioural disorder among schoolchildren. It may persist into adulthood and affect performance in the academic, social, occupational and familial spheres, and increase the use and abuse of alcohol and psychoactive substances and the risk of having an accident. Its prevalence throughout the world varies widely and further knowledge about this situation would be valuable for the development of policies in the sector of education. AIMS: The aim of this research was to determine the prevalence of ADHD and its distribution according to subtypes in schoolchildren from Sabaneta, Antioquia, Colombia, in 2001. SUBJECTS AND METHODS: The analysis involved a cross-sectional descriptive study using a representative randomised multistage sample (which was proportional to the size of the groups) of schoolchildren between 4 and 17 years old. Measurement was performed in two stages, first by application of a screening form according to DSM IV criteria, and later a structured interview, Conners' and Intelligence tests. RESULTS: Prevalence was found to be 20.4% and 15.8% if only children with an intelligence quotient of 80 or above were considered. The combined subtype was the most frequent, with 9.6%. In public schools it was 16.2%, private 15.3%, age group from 7-11 years 16.9%, 12-17 years old 14.2%, males 20.9%, females 10.1%, low 14.7%, medium 17.4% and high socioeconomic level 10.7%, with a male to female prevalence ratio of 3.88 to 1. CONCLUSIONS: Prevalence of ADHD in the school population in a municipality in the Metropolitan Area of Medellin, Colombia, is high. The most frequent subtype was the combined type, which was predominant in males, had repercussions on academic performance and low proportions of pharmacological interventions for the disorder (15%). Programmes must be developed for the detection of this problem and subsequent intervention in the school population.