Single-Locus and Multi-Locus Genome-Wide Association Studies Identify Genes Associated with Liver Cu Concentration in Merinoland Sheep.

Economic losses due to copper intoxication or deficiency is a problem encountered by sheep farmers. The aim of this study was to investigate the ovine genome for genomic regions and candidate genes responsible for variability in liver copper concentration. Liver samples were collected from slaughtered lambs of the Merinoland breed from two farms, and used for measurement of copper concentration and genome-wide association study (GWAS). A total of 45,511 SNPs and 130 samples were finally used for analysis, in which single-locus and several multi-locus GWAS (SL-GWAS; ML-GWAS) methods were employed. Gene enrichment analysis was performed for identified candidate genes to detect gene ontology (GO) terms significantly associated with hepatic copper levels. The SL-GWAS and a minimum of two ML-GWAS identified two and thirteen significant SNPs, respectively. Within genomic regions surrounding identified SNPs, we observed nine promising candidate genes such as DYNC1I2, VPS35, SLC38A9 and CHMP1A. GO terms such as lysosomal membrane, mitochondrial inner membrane and sodium:proton antiporter activity were significantly enriched. Genes involved in these identified GO terms mediate multivesicular body (MVB) fusion with lysosome for degradation and control mitochondrial membrane permeability. This reveals the polygenic status of this trait and candidate genes for further studies on breeding for copper tolerance in sheep.

Effects of fetal number on acute phase proteins, cortisol, and hematological parameters in ewes during the periparturient period.

Many subclinical diseases associated with inflammation occur in sheep during the periparturient period. Clinical symptoms are usually detected at an advanced stage of the disease; therefore, there are considerable risks of permanent health disorders in fetuses or dams. Determination of acute phase proteins (APPs) as markers of inflammation may allow for an earlier diagnosis and effective treatment. Furthermore, multi-fetus pregnancies are often associated with hematological disturbances. The study objective was to compare plasma concentrations of serum amyloid A (SAA), haptoglobin (Hp), fibrinogen (Fb), and cortisol in ewes bearing one and two fetuses in the period from 2 weeks before to 2 weeks after parturition as well as to determine hematological parameters in peripheral blood. There was an important effect of fetal number on APP and cortisol concentrations in periparturient ewes. There was a greater concentration of SAA, Hp, Fb, and cortisol in ewes bearing two fetuses compared with those bearing one fetus. Profiles for APP and cortisol concentrations and hematological parameters were similar for ewes bearing one and two fetuses, and trends were within normal reference ranges for the periparturient period. Furthermore, there were no differences in values for hematological variables between ewes bearing one and two fetuses. with there being no ewes with anemia. In summary, separate determination of the previously undefined physiological ranges of APPs and cortisol for ewes bearing one and two fetuses may facilitate diagnosis of subclinical disorders and enable comparison of laboratory test results with different reference values for ewes bearing different numbers of fetuses.

Chicken embryo as a model in epigenetic research.

Epigenetics is defined as the study of changes in gene function that are mitotically or meiotically heritable and do not lead to a change in DNA sequence. Epigenetic modifications are important mechanisms that fine tune the expression of genes in response to extracellular signals and environmental changes. In vertebrates, crucial epigenetic reprogramming events occur during early embryogenesis and germ cell development. Chicken embryo, which develops external to the mother's body, can be easily manipulated in vivo and in vitro, and hence, it is an excellent model for performing epigenetic studies. Environmental factors such as temperature can affect the development of an embryo into the phenotype of an adult. A better understanding of the environmental impact on embryo development can be achieved by analyzing the direct effects of epigenetic modifications as well as their molecular background and their intergenerational and transgenerational inheritance. In this overview, the current possibility of epigenetic changes during chicken embryonic development and their effects on long-term postembryonic development are discussed.

Effects of Intronic SNPs in the Myostatin Gene on Growth and Carcass Traits in Colored Polish Merino Sheep.

Myostatin acts as a negative regulator of muscle growth; therefore, its role is important with regard to animal growth and meat production. This study was undertaken with the objective to detect polymorphisms in the first intron and c.*1232 position of the MSTN gene and to analyze effects of the detected alleles/genotypes on growth and carcass traits in Colored Polish Merino sheep. In total, 23 traits were analyzed, i.e., seven describing lamb growth and 16 carcass traits. Single nucleotide polymorphisms (SNPs) in the first intron and the c.*1232 position were identified using polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) and PCR-restriction fragment length polymorphism (PCR-RFLP) methods, respectively. The MIXED procedure of the SAS software package was used to analyze allelic and genotypic effects of the MSTN gene on growth and carcass traits. Polymorphisms were only detected in the first intron of the MSTN gene. All investigated sheep were monomorphic G in the c.*1232 position. The MSTN genotype was found to have significant effect on body weight at 2nd day of life (BW2) and loin and fore shank weights. Significant allelic effects were detected with respect to BW2, scrag, leg, fore, and hind shank weights. These results suggest that polymorphisms in the first intron of the MSTN gene are relevant with respect to several carcass traits and BW2 in Colored Polish Merino sheep.

Sex ratio of White Stork Ciconia ciconia in different environments of Poland.

The aim of this study was to analyze the variation in sex ratio of White Stork Ciconia ciconia chicks from differentiated Poland environments. We took under a consideration the impact of Cd and Pb for establish differences among sex ratio in chicks. We also study multiplex PCR employment for establish gender considerations. We collected blood samples via venipuncture of brachial vein of chicks during 2006-2008 breeding seasons at the Odra meadows (SW-Poland; control), which were compared with those from suburbs (SW-Poland), and from copper smelter (S-Poland; polluted) and from swamps near Baltic Sea. We found differences among sex ratio in White Stork chicks from types of environment. Male participation in sex structure is importantly higher in each type of environment excluded suburban areas. Differences in White Stork sex ratio according to the degree of environmental degradation expressed by Cd and Pb and sex-environment-metal interactions testify about the impact of these metals upon sex ratios in storks. Simultaneously, as a result of multiplex PCR, 18S ribosome gene, which served as internal control of PCR, was amplified in male and female storks. It means that it is possible to use primers designed for chicken in order to replicate this fragment of genome in White Stork. Moreover, the use of Oriental White Stork Ciconia boyciana W- chromosome specific primers makes it possible to determine the sex of C. ciconia chicks. Many factors make sex ratio of White Stork changes in subsequent breeding seasons, which depend significantly on specific environmental parameters that shape individual detailed defense mechanisms.

[Physical activity in the prevention and treatment of diseases of affluence--the key role of AMP-activated protein kinase (AMPK)]. / Aktywnosc fizyczna w profilaktyce i leczeniu chorób cywilizacyjnych--kluczowa rola kinazy bialkowej aktywowanej przez AMP (AMPK).

In developed countries, we can observe an increasing number of people with obesity, type 2 diabetes, dyslipidemia, hypertension and arteriosclerosis. The main reason for this phenomenon is the abnormal energy balance due to sedentary lifestyles. Cardiovascular diseases are the leading cause of death in many countries around the world, nowadays. In this paper, the impact of physical activity on the effectiveness of treatment and prevention of metabolic diseases and cancer is considered. Exercise is one of the factors activating 5'AMP-activated protein kinase (AMPK). This enzyme is crucial in maintaining the energy balance of the cell and the entire organism, and its activation results in excluding the anabolic and switching on the catabolic processes. It is believed that the activation of AMPK is responsible for most of the positive effects resulting from physical exercise. Although there are pharmacological methods of activation of this enzyme, they seem to be not as effective as physical exercise. Therefore, physical activity should be the most important form of prevention and treatment of metabolic diseases.

[Perceptiv-acoustic characteristic after supracricoid laryngectomy with cricohyopexy or cricohyoepiglottopexy]. / Charakterystyka percepcyjno-akustyczna glosu i mowy po laryngektomiach nadpierscieniowych z CHP lub CHEP.

INTRODUCTION: Supracricoid laryngectomy with cricohyopexy (CHP) and cricoepiglottopexy (CHEP) are the one of functional laryngectomy. AIM: The aim of the study is phonation assessment of the reconstruction larynx. Material and methods. The examined group consisted of 58 patients (49 males and 9 female). An average age 54. 32 patients underwent CHP and 26-CHEP CHP was performed in following modes: a) 1 arytenoid cartilage left in 17 cases, b) 2 arytenoid cartilages left in 14 cases and c) 1 arytenoid cartilage left and second was resected with subsequent reconstruction in 1 case. The arytenoid cartilage was reconstructed in 19 cases (8 after CHP and 11 after CHEP). The vascularized thyroid lobe was used to the reconstruction of arytenoid cartilage in 8 cases (6 after CHP and 2 after CHEP), cuneiform or corniculate cartilage was used in 4 patients (1 CHP and 3 CHEP) and mucous membrane in 7 cases (1 CHP and 6 CHEP). RESULT: Socially efficient speech was found in 74% patients and the results were better after CHEP. CONCLUSION: The phonetic-acoustic structure of voice and resonant speech was considerably different from the phonetic-acoustic structure of voice and speech under physiologic conditions. These differences applied to segmental (formant structure, frequencies, noise range), as well as suprasegmental voice features.

[Glottis morphology after supracricoid laryngectomy with CHP or CHEP--protetective and respiratory function assessement]. / Morfologia glosni po laryngektomiach nadpierscieniowych z cricohyopexia (CHP) lub cricohyoepiglottopexia (CHEP)--ocena funkcji ochronnej i oddechowej.

The aim of this study was to evaluate morphology and assess of the protective and respiratory function of larynx after cricohyopexis (CHP) and cricohyoepiglottopexis (CHEP). The examined group consisted of 58 patients (49 males and 9 female) operated between 1984-2002. An average age 54 (min. 36, max. 67). 32 patients underwent CHP and 26 had CHEP. CHP was performed in following modes: a) 1 aryteroid cartilage left in 17 (43,75%) cases, b) 2 aryteroid cartilages left in 14 (43,75%) cases and c) 1 aryteroid cartilage left and second resected with subsequent reconstruction in 1 (3,31%) case. In CHEP patients the operations were a) 17 (65,38%), b) 4 (15,38%) and c) 5 (19,23%) respectively. The aryteroid cartilage was reconstructed in 19 cases (8 after CHP and 11 after CHEP). In the reconstruction of aryteroid cartilage vascularized thyroid lobe was used in 8 cases (6 after CHP and 2 after CHEP), cuneiform or corniculate cartilage was used in 4 patients (1 CHP and 3 CHEP) and mucous membrane in 7 cases (1 CHP and 6 CHEP). To determine morphology of larynx, videolaryngoscopy was done. Thus examination distinguished 5 neoglottis shapes: oval (62,1%), longitudinal (13,8), triangle (8,6%), irregular (6,9%). In 8,6% cases the neoglottis was invisible. Decaniulation was possible in 66% patients, 24 (75%) after CHP and 14 (54%) after CHEP. In the group with both aryteroid cartilages left, 16 (89%) patients were decannulated. 31 (54%) patients complained about occasional liquid aspiration. To evaluate dysphagia, subjective complaints between 6-12, 12-18 and >18 months after surgery were analyzed. The swallowing was improving in the course of time. Between 6 and 12 months after surgery 31 (54%) subjects developed dysphagia, but after 18 months only 3 (5,1%) complained about swallowing impairment. Patients without aryteroid cartilage reconstruction or decanulated had more efficient swallowing.

[Horizontal glottectomy--oncological and functional results. Part II. Morphology of the glottis and perceptive-acoustics characteristic of the voice and speech after horizontal glottectomy]. / Laryngektomia pozioma glosniowa-- wyniki onkologiczne i funkcjonalne. Czesc II. Morfologia glosni i charakterystyka percepcyjno-akustyczna glosu i mowy po laryngektomii poziomej glosniowej.

INTRODUCTION: The authors showed findings concerning glottis morphology and perceptual-acoustic characteristics of voice and speech after partial classical (PCGLg) and extended glottic partial laryngectomy (PEGLg). MATERIAL AND METHODS: 10 patients (9 M., 1 F. average age 56 (min. 47 max. 65) were examined. All patients were undergone glottic partial laryngectomy: a) classical (n = 5) b) extended of vocal process (n = 3) with (n = 2) or without (n = 1) the removal of the mucous false folds, c) extended of part of arytenoid cartilage with (n = 2) or without (n = 1) the removal of the mucous of the false folds. The following examinations were executed: phoniatric, videolaryngoscopic and perceptual-acoustic analysis. RESULTS: After PCGLg and one extended of vocal process, voice and speech has mostly characterized of features of hypofunction dysphonia. Hyperfunction was found in patients after removal of the mucous of the false folds due to leucoplakia. In case of removing of a part of arythenoid cartilage the notable or entire standstill or lack of full phonatory closure were found. The phonetical-acoustic analysis showed that in patients using melodious voice, the character of the source of actuating was periodically-noise, with the component of noise in all range of the course of the acoustic signal of voice. The parameters such as F0, jitter, shimmer does not make coherent conclusions and are less useful in the assessment of the quality of voice. CONCLUSIONS: In case of the resection of the part of the arythenoid cartilage during glottis laryngectomy, we take into account lack of full phonatory closure and using whisper by the patients. Obtaining the reliable conclusions needs continuations of the investigations and increasing number of patients. These researches are in progress.