Satiety splits drinking behavior into bouts: Organization of drinking in turkeys.

The regulation of the drinking behavior of animals is usually overlooked, and the traits associated with it are not well defined. We used a unique data set of measurements of individual drinking behavior in turkeys 1) to validate the system of data generation, 2) to develop a methodology to allow clustering of drinking events and splitting behavior into bouts, and 3) to develop traits related to drinking behavior and its regulation and investigate how these traits may be affected by bird genotype. Visits to drinkers were generated by an electronic, custom-made equipment that automatically measures the individual drinking behavior of a large number of turkeys from 3 different genetic lines. The overall reliability of the electronic system was estimated from video observations and resulted in a predictability of 98.8% and sensitivity of 98.6%. A novel method based on mixture distribution models allowed clustering of drinking events and splitting behavior into bouts by estimating the shortest interval between visits to the drinker that was considered to be part of a bout (bout criterion). The method predicted that after the end of a given bout the probability of the bird initiating the next bout was low but increased with time since the last bout. As a result, drinking bouts were not randomly distributed but were predicated on the physiological principle of satiety, suggesting that they constitute biologically appropriate units for expressing drinking behavior. The applied method resulted in bout criteria estimates of 665, 672, and 602 s for genetic lines A, B, and C, respectively. On the basis of this methodology, a number of drinking behavior traits, such as bout duration and frequency, and water intake per bout were identified that revealed differences ( < 0.01) in the drinking behavior between the turkey genetic lines. Similarly, time accumulation patterns of drinking behavior traits within a day differed ( < 0.01) within and between genetic lines, suggesting that variation in drinking behavior exists and birds use different behavioral strategies to meet their water intake requirements. Development of drinking behavior over time was similar between the lines, suggesting conservation of this behavioral organization. As well as providing ideas about the regulation of drinking behavior, the developed behavioral traits may be of practical relevance because water utilization, along with feed efficiency, is part of overall biological efficiency.

Genetic basis of leg health and its relationship with body weight in purebred turkey lines.

The aims of this study were to estimate the genetic parameters for leg and foot health and mobility in purebred turkey lines and their genetic correlations with BW. Traits were gait score (GS) as an overall measure of leg health, footpad dermatitis (FPD), and 2 skeletal leg health traits, namely, valgus and varus deformities (VVD) and tibial dyschondroplasia (TD). Data from 4 different lines, comprising 3 yr of phenotypic records and 4 yr of pedigree information per line, were used. The sex average BW for the lines at 18 wk ranged from 19.1 kg (line A) to 12.4 kg (line D). The prevalence of VVD ranged from 5.2 to 14.6% and for TD from 4.1 to 23.2%. The average score for FPD on a scale of 0 to 100 ranged from 48.5 to 61.1. Gait Score was scored on a scale of 1 to 5, standardized to a mean of 3 and SD of 1. Heritabilities were estimated at 0.08 to 0.13 for GS, 0.01 to 0.07 for VVD, 0.06 to 0.12 for TD, and 0.10 to 0.15 for FPD (all SE ≤ 0.02). Estimates of the genetic correlations between VVD and TD ranged from 0.03 to 0.21 (all SE ≤ 0.08), and estimates of these with GS ranged from 0.07 to 0.87 (all SE ≤ 0.09). The genetic correlations of FPD with GS ranged from 0.00 to 0.34 (all SE ≤ 0.04), and with the skeletal leg health traits from -0.06 to 0.33 (all SE ≤ 0.06). Body weight showed estimated genetic correlations ranging from 0.28 to 0.51 (all SE ≤ 0.06) with GS, -0.06 to 0.50 (all SE ≤ 0.13) with VVD/TD and 0.05 to 0.34 (all SE ≤ 0.05) with FPD. The results suggest that selection for improved leg health can be incorporated effectively in a commercial turkey breeding program using balanced breeding goals, in which production traits and leg health traits are considered simultaneously.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling. One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mildly (XCI: 70/30, 63/37, 100/0 in blood and random in saliva), one moderately (XCI: random) and three severely (XCI: uninformative and 88/12) affected patients. After combining our data with data from the literature, we could not show a correlation between XCI in the blood or duplication size and the severity of the phenotype, or explain the presence of a phenotype in these females. These findings confirm that an abnormal phenotype, even severe, can be a rare event in females born to asymptomatic carrier mothers, making genetic counselling difficult in couples at risk in terms of prognosis, in particular in prenatal cases.

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be characterized by karyotype. In many prenatal cases of de novo sSMC, the outcome of pregnancy is difficult to predict because the euchromatin content is unclear. This study aimed to determine the presence or absence of euchromatin material of 39 de novo prenatally ascertained sSMC by array-comparative genomic hybridization (array-CGH) or single nucleotide polymorphism (SNP) array. Cases were prospectively ascertained from the study of 65,000 prenatal samples [0.060%; 95% confidence interval (CI), 0.042-0.082]. Array-CGH showed that 22 markers were derived from non-acrocentric markers (56.4%) and 7 from acrocentic markers (18%). The 10 additional cases remained unidentified (25.6%), but 7 of 10 could be further identified using fluorescence in situ hybridization; 69% of de novo sSMC contained euchromatin material, 95.4% of which for non-acrocentric markers. Some sSMC containing euchromatin had a normal phenotype (31% for non-acrocentric and 75% for acrocentric markers). Statistical differences between normal and abnormal phenotypes were shown for the size of the euchromatin material (more or less than 1 Mb, p = 0.0006) and number of genes (more or less than 10, p = 0.0009). This study is the largest to date and shows the utility of array-CGH or SNP array in the detection and characterization of de novo sSMC in a prenatal context.

[New opportunities of endoscopic diagnosis of chronic colitis].

For the first time diagnostic possibilities digital videoendoscopic systems with application of NBI-technology of visualisation for revealing of inflammatory and destructive changes of a mucous membrane of a large bowel are studied. It is shown that the given technique with high degree of reliability promotes definition of their prevalence and degree of expressiveness at patients with a various chronic pathology of a large bowel.