Dermoscopy of Gottron's papules and other inflammatory dermatoses involving the dorsa of the hands.

BACKGROUND: Several inflammatory dermatoses, including dermatomyositis (DM), may present as erythematous papules or plaques on the dorsal aspects of the hands over the joints. Limited skin involvement in these entities may pose a diagnostic challenge. (Video)dermoscopy is being utilized more frequently to aid in the differential diagnosis of inflammatory skin conditions. OBJECTIVE: To describe the dermoscopic findings in Gottron's papules and compare them with dermoscopic features of other dermatoses involving the dorsal aspects of the hands. METHODS: Videodermoscopic images from patients presenting with erythematous papules or plaques on the dorsal surface of the hands were retrospectively analysed for the presence of standardized dermoscopic parameters. RESULTS: Dermoscopic images from patients with DM (n = 12), psoriasis (n = 19), chronic dermatitis (n = 16), mycosis fungoides (n = 7), lichen planus (n = 5) and pityriasis rubra pilaris (n = 3) were included. Gottron's papules were characterized by pleomorphic vessels (dotted vessels accompanied by thick or thin linear vessels with branches or linear curved vessels) in 66.7% of cases, arranged in an unspecified pattern (91.7%), and accompanied by white or pink structureless areas (75.0%). Psoriatic plaques were characterized by dotted vessels arranged in a uniform pattern (94.7%). Vessels arranged in a ring pattern were nearly exclusively observed in psoriasis, while yellow structureless areas and erosions were more frequently present in chronic dermatitis. White lines, corresponding to Wickham striae, were specific for lichen planus. CONCLUSIONS: Videodermoscopy might be of value in differentiating Gottron's papules from other dermatoses involving dorsa of the hands.

Dermoscopy vs. reflectance confocal microscopy for the diagnosis of lentigo maligna.

BACKGROUND: Several dermoscopic and in vivo reflectance confocal microscopy (RCM) diagnostic criteria of lentigo maligna (LM)/lentigo maligna melanoma (LMM) have been identified. However, no study compared the diagnostic accuracy of these techniques. OBJECTIVE: We evaluated the diagnostic accuracy of dermoscopy and RCM for LM/LMM using a holistic assessment of the images. METHODS: A total of 223 facial lesions were evaluated by 21 experts. Diagnostic accuracy of the clinical, dermoscopic and RCM examination was compared. Interinvestigator variability and confidence level in the diagnosis were also evaluated. RESULTS: Overall diagnostic accuracy of the two imaging techniques was good (area under the curve of the sROC function: 0.89). RCM was more sensitive (80%, vs. 61%) and less specific (81% vs. 92%) than dermoscopy for LM/LMM. In particular, RCM showed a higher sensitivity for hypomelanotic and recurrent LM/LMM. RCM had a higher interinvestigator agreement and a higher confidence level in the diagnosis than dermoscopy. CONCLUSION: Reflectance confocal microscopy and dermoscopy are both useful techniques for the diagnosis of facial lesions and in particular LM/LMM. RCM is particularly suitable for the identification of hypomelanotic and recurrent LM/LMM.

Coexistence of bicuspid aortic valve, aberrant right subclavian artery and common origin of carotid arteries.

BACKGROUND: Prevalence of bicuspid aortic valve (BAV) and right aberrant sub-clavian artery (ASA) separately is relatively common in general population, and much higher in some disorders. Surprisingly, coexistence of both valve and vessel anomalies has only been reported in single cases. MATERIALS AND METHODS: From 2008 to 2016, in a single, high-volume tertiary cardiac centre, patients who underwent chest computed tomography (CT) for various reasons, were retrospectively screened for the presence of right ASA. RESULTS: Seventy-two patients with either right or left ASA were identified by CT. Among them 7 cases of BAV and right ASA coexistence were identified. Additionally, 1 case with coexisting common origin of carotid arteries (COCA) was visualised in this subgroup. CONCLUSIONS: Although coexistence of ASA and BAV has not been reported in paediatric population, it has been diagnosed in very few adults as well as in our series. Additional presence of COCA in this group seems to be very rare. From practical point of view, heart cannulation via the radial artery and subsequent ASA may be challenging. Similarly, COCA presence may have surgical implications during corrective procedures.

Platelet aggregation and risk of stent thrombosis or bleeding in interventionally treated diabetic patients with acute coronary syndrome.

BACKGROUND: Platelet aggregation monitoring in diabetic patients treated with coronary interventions (PCI) for an acute coronary syndrome (ACS) is a promising way of optimizing treatment and outcomes in this high risk group. The aim of the study was to verify whether clopidogrel response measured by Multiplate analyzer (ADPtest) in diabetic ACS patients treated with PCI predicts the risk of stent thrombosis or cardiovascular mortality and bleeding. METHODS: Into this prospective, observational study 206 elective PCI patients were enrolled. Two cutoff points of ADPtest were used in analysis to divide patients into groups. One (345 AU x min) was calculated based on ROC curve analysis; this cutoff provided the best ROC curve fit, although it did not reach statistical significance. The other (468 AU x min) was accepted based on the consensus of the Working Group on On-Treatment Platelet Reactivity. The risk of stent thrombosis and mortality was assessed using Cox regression analysis and Kaplan-Meier curves. RESULTS: The risk of stent thrombosis was higher in the group of patients with impaired clopidogrel response for either cutoff value (for >354 AU x min - HR 12.33; 95% CI 2.49-61.1; P = 0.002). Cardiovascular mortality was also higher in the impaired clopidogrel response group (for >354 AU x min - HR 10.58; 95% CI 2.05-54.58; P = 0.005). We did not find a clear relation of increased clopidogrel response to the risk of bleeding. CONCLUSIONS: The results of this study show that in diabetic ACS patient group treated with PCI an impaired platelet response to clopidogrel measured by the Multiplate analyzer results in increased risk of stent thrombosis and cardiac death.

Non-invasive diagnosis of pink basal cell carcinoma: how much can we rely on dermoscopy and reflectance confocal microscopy?

BACKGROUND: Non-pigmented 'pink' cutaneous lesions in differential diagnosis with basal cell carcinoma may present a challenge for clinicians. Our objective was to determine the potential improvement of diagnostic accuracy using combined dermoscopy-reflectance confocal microscopy (RCM) image evaluation. METHODS: Two hundred and sixty clinically equivocal 'pink' cutaneous lesions were evaluated retrospectively. Reader accuracy was tested with dermoscopy images only vs. RCM and combined dermoscopy-RCM images. RESULTS: Out of 260 equivocal 'pink' cutaneous lesions, there were 114 basal cell carcinomas within a total of 140 malignancies that included 12 melanomas, 13 squamous cell carcinomas, and 1 other malignancy type. Dermoscopy only evaluation resulted in an overall sensitivity of 85.1% and specificity of 92.4%, resulting in a positive predictive value (PPV) of 89.8%, with 1 of 12 melanomas misdiagnosed. RCM evaluation resulted in an overall sensitivity of 85.1% and specificity of 93.8%, resulting in a PPV of 91.5%, with no melanomas misdiagnosed. Combined dermoscopy-RCM evaluation resulted in an overall sensitivity of 77.2% and specificity of 96.6%, resulting in a PPV of 94.6%. CONCLUSION: The combination of dermoscopy-RCM evaluation significantly improves the accuracy and safety threshold in equivocal 'pink' cutaneous lesions in the differential diagnosis of basal cell carcinoma.

Cost-benefit of reflectance confocal microscopy in the diagnostic performance of melanoma.

BACKGROUND: The sub-optimal diagnostic accuracy for melanoma leads to excise a high number of benign lesions, with consequent costs. Reflectance confocal microscopy (RCM) improves diagnostic specificity, thus possibly inducing a reduction in unnecessary excisions and related costs. OBJECTIVE: To estimate the influence of RCM on number of benign lesions needed to excise (NNE) a melanoma, in term of clinical outcomes and costs per patient. PATIENTS AND METHODS: Skin neoplasms excised by the dermatology public service in the Province of Modena were retrieved form centralized pathology database. Differences in NNE between the territorial service (using dermoscopy only) and the University Hospital (adding also RCM to the patients' workflow) were calculated and cost analysis was performed through a micro-costing approach. RESULTS: A large reduction in benign lesions excised at University Hospital was evident, leading to NNE of 6.25 for University Hospital, compared to 19.41 for Territorial Dermatology. Since 4320 unnecessary excisions can be saved every million inhabitants, an overall yearly saving of over 280,000 Eur can be expected from the use of RCM. CONCLUSIONS: The systematic use of RCM was dramatically affecting the number of benign lesions excised, and this can be translated in a significant cost-benefit advantage.

Reflectance confocal microscopy correlates of dermoscopic patterns of facial lesions help to discriminate lentigo maligna from pigmented nonmelanocytic macules.

BACKGROUND: The clinical recognition of lentigo maligna (LM) and LM melanoma can be very challenging due to the overlapping features it shares with other pigmented macules of the skin. Noninvasive diagnostic techniques can assist in the differential diagnosis. OBJECTIVES: To identify reflectance confocal microscopy (RCM) indicators for LM through the identification of in vivo microscopic substrates of the main dermoscopic features seen in flat pigmented lesions of the face. METHODS: Retrospective analysis of 60 pigmented lesions (LM, invasive melanoma, solar lentigo/flat seborrhoeic keratosis, lichen planus-like keratosis, pigmented actinic keratosis) was carried out. The main dermoscopic patterns and RCM features were described. A new method for correlating RCM with dermoscopic patterns was developed. RESULTS: Pseudonetwork (37 of 60 lesions) and annular granular structures (37 of 60 lesions) were the most frequent dermoscopic patterns, followed by pigmented blotches (27 of 60 lesions). Upon RCM examination, pseudonetwork and blotches differed in melanomas and other nonmelanocytic lesions. These differences included the intraepidermal proliferation of atypical cells (predominantly dendritic-shaped with adnexal tropism) and the presence of a meshwork pattern at the junction. Also, annular granular structures exhibited dendritic cells almost exclusively in melanoma, with no difference between melanomas and nonmelanocytic lesions for the junctional and upper dermal pattern (characterized by dermal inflammation). Fingerprinting was mostly present in nonmelanocytic lesions or corresponded to an overlap with solar lentigo in melanomas. CONCLUSIONS: RCM is useful for identifying the histological substrate of dermoscopic features in pigmented lesions of the face. It can provide a better definition of the lesion areas, enabling an improved diagnostic approach.

CD271 is expressed in melanomas with more aggressive behaviour, with correlation of characteristic morphology by in vivo reflectance confocal microscopy.

BACKGROUND: Melanoma is the most highly aggressive type of skin cancer. Its resistance to existing treatments and the rapid rise in incidence underscore the importance of acquiring a better understanding of melanomagenesis. OBJECTIVES: To assess the impact of reflectance confocal microscopy (RCM) on the description of cell morphology, which may influence the growth pattern and changes with increasing tumour severity, correlating with biological aspects. METHODS: A retrospective analysis of 30 primary melanomas in vivo, evaluated by RCM, to correlate cell morphology and cellular arrangement with a marker of melanoma progression (CD271) using immunohistochemical evaluations. RESULTS: Typical cells organized in dermal nests with peculiar in vivo confocal morphology result in melanoma with high malignancy and positivity to CD271. This architecture might be due to the presence of a type of cells, intrinsically predisposed to invasion, as a result of dedifferentiation programming, revealed by expression of the neural crest marker CD271. CONCLUSIONS: With the hypothesis that dedifferentiated cells would be strongly responsible for initiation of tumour development and progression, we propose that CD271 detection could be associated with RCM evaluation in order to detect more aggressive melanoma subtypes.

Hyporeflective pagetoid cells: a new clue for amelanotic melanoma diagnosis by reflectance confocal microscopy.

BACKGROUND: Amelanotic melanoma represents a diagnostic challenge both clinically and dermoscopically. Few studies based on case series have explored the possibility of using reflectance confocal microscopy (RCM) to diagnose amelanotic melanoma. OBJECTIVES: To validate a new confocal feature, named hyporeflective pagetoid cells (HPCs), for the diagnosis of amelanotic melanoma. METHODS: A group of 20 amelanotic melanomas and a control population of nonpigmented melanocytic naevi (10), hypo/nonpigmented nonmelanocytic lesions (20) and pigmented melanomas (20), imaged by RCM, were retrospectively evaluated. The presence of HPCs and other diagnosis-specific confocal features was assessed and correlated with histopathology. RESULTS: HPCs were present, and usually abundant, in the majority of amelanotic melanomas (85%). As expected, they were also observed in Spitz naevi. On histopathology, they were correlated with pagetoid infiltration of hypomelanotic melanocytes in all melanocytic lesions. Few nonmelanocytic lesions (three squamous cell carcinomas, two seborrhoeic keratoses and one basal cell carcinoma) showed the presence of HPCs. In these cases, they corresponded to enlarged or dyskeratotic keratinocytes by histopathology. CONCLUSIONS: The identification of HPCs in the epidermis is a new parameter that is frequently found in amelanotic melanoma. Possible confounders are represented by atypical keratinocytes that can be present in nonmelanocytic lesions. However, the whole architecture and the presence of additional diagnostic criteria should be considered in order to obtain a correct diagnosis.

Growth performance, meat quality traits, and genetic mapping of quantitative trait loci in 3 generations of Japanese quail populations (Coturnix japonica).

The current research was conducted to compare growth, carcass traits, pH, intramuscular collagen (IMC) properties, and genetic bases of IMC and carcasses (breast-muscle weight) of different lines and generations of adult males and females of Japanese quail (Coturnix japonica). Forty-four quails (generation F0), 22 Pharaoh (F-33) meat-type males and 22 Standard (S-22) laying-type females, were crossed to produce the F1 hybrids generation. The F2 generation was created by mating one F1 male with one F1 female, full siblings. The birds, randomly chosen from F0 (22 males and 22 females), F1 (22 males and 22 females), and F2 (84 males and 152 females) were raised to 20 wk of age in collective cages. Quails were fed ad libitum commercial diets. At slaughter, all birds were individually weighed (after a fasting period of 12 h) and dressing yield (without giblets) was calculated. The carcasses were then dissected. Genomic DNA was extracted from all of the blood, and 30 microsatellite markers located on 2 quail chromosomes were genotyped. The F -: 33 quails had higher in vivo and postmortem performances and a higher abdominal fat percentage than those of the egg line. Meat from S -: 22 quails had a slower collagen maturation (hydroxylysylpyridinoline crosslink/collagen) and a higher ultimate pH. The F1 and F2 generations showed an evident sexual dimorphism, and an additional effect could be due to hybrid heterosis evident in F2. Meat from quails of F1 and F2 generations had a lower IMC amount with a higher degree of collagen maturation compared with parental lines. Two statistically significant QTL have been detected on quail chromosome 2 (CJA02): a QTL with an additive effect (0.50) for IMC in the marker bracket GUJ0037 and GUJ0093; a second QTL with additive (1.32) and dominant (1.91) effects for breast-muscle weight in the marker bracket GUJ0084 and GUJ0073. To our knowledge, this is the first report of a QTL associated with breast-muscle weight and IMC in quail and poultry species, respectively.

Identification of chromosome instability in Japanese quail (Coturnix japonica).

1. A study of the incidence of chromosome instability in the Japanese quail as assessed by sister chromatid exchange (SCE) and fragile site identification in chromosomes was conducted in two parent breeds and their F1 and F2 generations. 2. The mean incidence of SCEs was 6.02 ± 0.45 and the frequency of fragile sites was 1.17 ± 0.79. 3. There were moderately negative correlations of 0.51-0.64 between chromosome instability and fertility in the F1 and 0.10-0.23 in the F2. The hatch of fertilised eggs was negatively correlated with the number of SCE in male (0.31) and female (0.33) F1 and was lower in P (0.18 and 0.19, respectively), whereas the correlations were similar for the number of fragile sites in both generations (0.51-0.62).

Sister chromatid exchange in Greenleg Partridge and Polbar hens covered by the gene-pool protection program for farm animals in Poland.

A basic assay that detects genotoxic DNA damage disrupting DNA replication and repair mechanisms is the sister chromatid exchange test. The frequency of sister chromatid exchanges was analyzed in chromosomes of the following hen breeds: Greenleg Partridge and Polbar. Chromosome preparations were obtained from our in vitro culture of peripheral blood lymphocytes stained using the fluorescence plus Giemsa (FPG) technique. The sister chromatid exchange (SCE)/cell mean of the hens under analysis was 7.83 ± 1.76 (7.22 ± 1.70 in the Greenleg Partridge and 8.43 ± 1.61 in the Polbar population). Statistically significant differences were identified between the hen breeds. A higher mean number of SCE/cell was observed in the group of hens producing fewer eggs (8.55 ± 1.51) compared with the group with a better egg yield (7.10 ± 1.65). The differences were statistically significant. Additionally, SCE frequency in the first, second, and third chromosome was analyzed in detail. The highest number of SCE was observed in the first and the lowest in the third chromosome. The SCE distribution in the particular regions of the analyzed chromosomes was also studied. The most numerous exchanges were observed in the proximal region, followed by the interstitial and distal areas.

Paraoxonase gene polymorphism and the risk for Alzheimer's disease in the polish population.

BACKGROUND: The relationship between different paraoxonase (PON) gene polymorphisms and the risk of Alzheimer's disease (AD) was studied several times and the results were controversial. METHODS: We investigated the association of 4 single-nucleotide polymorphisms (SNPs) of the PON1 (M55L; Q192R; -161C/T) and the PON2 (C311S) genes that were shown to affect the risk of sporadic AD. We studied 360 Caucasian cases with late-onset AD and 354 nondemented controls. RESULTS: No significant differences were observed between the studied PON SNPs and AD risk. The results did not change after stratification of the apolipoprotein E status. Meta-analyses of studies in Caucasians assessing the associations between the PON1 M55L, -161C/T and Q192R SNPs and the risk of AD were performed, and no associations were found. CONCLUSION: Our results suggest that the studied PON1 and PON2 polymorphisms are not associated with late-onset AD.

Cholesterol content and intramuscular collagen properties of pectoralis superficialis muscle of quail from different genetic groups.

To study growth performance and meat quality traits (cholesterol content and intramuscular collagen properties) of quail, 3 trials were carried out. Trial 1 used males of generation 19 of the egg type Japanese quail (Coturnix japonica) selected previously (until generation 17) for low (n = 8) or high (n = 7) yolk cholesterol content as well as an unselected control (n = 11). Trial 2 used males of meat Pharaoh quail selected earlier (generations 1 to 6 and 9 to 11) on the basis of BW decrease after periodic deprivation of food (high decrease of weight, n = 10; low decrease of weight, n = 8) and unselected control (n = 10). Trial 3 compared males of English White quail, Manchurian Golden quail, and British Range quail. The birds were raised to 35 d of age. Quail were fed ad libitum commercial diets according to age and had free access to water. At slaughter, all birds were individually weighed (after a fasting period of 12 h), stunned, and decapitated. After the refrigeration period (24 h at 4°C), the left pectoralis superficialis muscle was removed from the carcasses, weighed, vacuum packaged, and stored frozen (-40°C) for analyses of cholesterol and intramuscular collagen (IMC; collagen and crosslink concentration). In trial 1, divergent selection for yolk cholesterol content did not significantly influence pectoralis superficialis muscle weight and IMC crosslinking of Japanese quail, whereas it significantly reduced growth and IMC amount. In addition, it had greater effect on the amount of cholesterol in meat; in fact, the meat of quail with low yolk cholesterol content contained lower cholesterol (-36.6%) than that of birds with high yolk cholesterol content. In trial 2, divergent selection on the basis of Pharaoh quail BW decrease altered IMC crosslinking, leading to variability in meat tenderness of Pharaoh quail. In trial 3, English White quail were significantly heavier than the other breeds.

Quantitative trait loci associated with the humoral innate immune response in chickens were confirmed in a cross between Green-Legged Partridgelike and White Leghorn.

Natural antibodies (NA) create a crucial barrier at the initial steps of the innate humoral immune response. The main role of NA in the defense system is to bind the pathogens at early stages of infection. Different pathogens are recognized by the presence of highly conserved antigen determinant [e.g., lipopolysaccharide (LPS) in gram-negative bacteria or lipoteichoic acid (LTA) in gram-positive bacteria]. In chickens, a different genetic background of NA binds LPS and LTA antigens, encoded by different QTL. The main objective of this work was to confirm known QTL associated with LPS and LTA NA. For this purpose a chicken reference population was created by crossing 2 breeds: a commercial layer, White Leghorn, and a Polish indigenous chicken, Green-Legged Partridgelike. The chromosomal regions analyzed harbored to GGA3, GGA5, GGA6, GGA8, GGA9, GGA10, GGA14, GGA15, GGA18, and GGAZ. The data collected consisted of the NA titers binding LPS and LTA (determined by ELISA at 12 wk of age) as well as the genotypes (30 short tandem repeat markers; average of 3 markers/chromosome, collected for generations F(0), F(1), and F(2)). The analyses were performed with 3 statistical models (paternal and maternal half-sib, line cross, and linkage analysis and linkage disequilibrium) implemented in GridQTL software (http://www.gridqtl.org.uk/). The QTL study of humoral innate immune response traits resulted in the confirmation of 3 QTL associated with NA titers binding LPS (located on GGA9, GGA18, and GGAZ) and 2 QTL associated with NA titers binding LTA (located on GGA5 and GGA14). A set of candidate genes within the regions of the validated QTL has been proposed.

Rivaroxaban versus placebo in patients with acute coronary syndromes (ATLAS ACS-TIMI 46): a randomised, double-blind, phase II trial.

BACKGROUND: Rivaroxaban is an oral direct factor Xa inhibitor that has been effective in prevention of venous thromboembolism in patients undergoing elective orthopaedic surgery. However, its use after acute coronary syndromes has not been investigated. In this setting, we assessed the safety and efficacy of rivaroxaban and aimed to select the most favourable dose and dosing regimen. METHODS: In this double-blind, dose-escalation, phase II study, undertaken at 297 sites in 27 countries, 3491 patients stabilised after an acute coronary syndrome were stratified on the basis of investigator decision to use aspirin only (stratum 1, n=761) or aspirin plus a thienopyridine (stratum 2, n=2730). Participants were randomised within each strata and dose tier with a block randomisation method at 1:1:1 to receive either placebo or rivaroxaban (at doses 5-20 mg) given once daily or the same total daily dose given twice daily. The primary safety endpoint was clinically significant bleeding (TIMI major, TIMI minor, or requiring medical attention); the primary efficacy endpoint was death, myocardial infarction, stroke, or severe recurrent ischaemia requiring revascularisation during 6 months. Safety analyses included all participants who received at least one dose of study drug; efficacy analyses were by intention to treat. This study is registered with ClinicalTrials.gov, number NCT00402597. FINDINGS: Three patients in stratum 1 and 26 in stratum 2 never received the study drug. The risk of clinically significant bleeding with rivaroxaban versus placebo increased in a dose-dependent manner (hazard ratios [HRs] 2.21 [95% CI 1.25-3.91] for 5 mg, 3.35 [2.31-4.87] for 10 mg, 3.60 [2.32-5.58] for 15 mg, and 5.06 [3.45-7.42] for 20 mg doses; p<0.0001). Rates of the primary efficacy endpoint were 5.6% (126/2331) for rivaroxaban versus 7.0% (79/1160) for placebo (HR 0.79 [0.60-1.05], p=0.10). Rivaroxaban reduced the main secondary efficacy endpoint of death, myocardial infarction, or stroke compared with placebo (87/2331 [3.9%] vs 62/1160 [5.5%]; HR 0.69, [95% CI 0.50-0.96], p=0.0270). The most common adverse event in both groups was chest pain (248/2309 [10.7%] vs 118/1153 [10.2%]). INTERPRETATION: The use of an oral factor Xa inhibitor in patients stabilised after an acute coronary syndrome increases bleeding in a dose-dependent manner and might reduce major ischaemic outcomes. On the basis of these observations, a phase III study of low-dose rivaroxaban as adjunctive therapy in these patients is underway. FUNDING: Johnson & Johnson Pharmaceutical Research & Development and Bayer Healthcare AG.

A quantitative trait locus for a primary antibody response to keyhole limpet hemocyanin on chicken chromosome 14--confirmation and candidate gene approach.

A QTL involved in the primary antibody response toward keyhole limpet hemocyanin (KLH) was detected on chicken chromosome 14 in the experimental population, which was created by crossing commercial White Leghorn and a Polish native chicken breed (green-legged partridgelike). The current QTL location is a validation of previous experiments pointing to the same genomic location for the QTL linked to a primary antibody response to KLH. An experimental population was typed with microsatellite markers distributed over the chicken chromosome 14. Titers of antibodies binding KLH were measured for all individuals by ELISA. Statistical models applied in the Grid QTL Web-based software were used to analyze the data: a half-sib model, a line-cross model, and combined analysis in a linkage disequilibrium and linkage analysis model. Candidate genes that have been proposed were genotyped with SNP located in genes exons. Statistical analyses of single SNP associations were performed pointing out 2 SNP of an axis inhibitor protein (AXIN1) gene as significantly associated with the trait of an interest.

Microsatellite markers may be ineffective in selection of laying hens for polygenic production traits.

Previous research on mapping QTL in a reference family of laying hens indicated that 5 microsatellite loci (MCW0133, MCW0170, MCW0114, MCW0139, and LEI0074) were significantly associated with genome regions affecting shell strength as well as egg and yolk weights. The aim of our investigation was to verify if those markers could be useful in selection of laying hens. The study involved 2 breeds of randomly segregating populations: Rhode Island Reds selected divergently and Green-legged Partridgenous chickens selected upwardly, over 4 generations, for the mentioned egg quality traits. The influence of marker genotype on bird performance was assessed through the prediction of breeding values using a model that distinguished the marker effect from that of the polygenic effect and by comparing breeding values between different genotypes at given marker loci. The effects of the linked QTL regions appeared too small to significantly differentiate the outcomes of classifications fitting or not fitting the marker genotype. Comparison of breeding values between microsatellite genotypes for laying and egg traits revealed that antagonistic pleiotropic effects exist between these 2 groups of traits, adding to the difficulty of accounting for marker genotypes in the selection of laying hens.

Identification of quantitative trait loci affecting production and biochemical traits in a unique Japanese quail resource population.

The objective of the current study was to identify QTL associated with body weight, growth rate, egg quality traits, concentration of selected blood plasma, and yolk lipids as well as concentration of selected macro- and microelements, color, pH, basic chemical composition, and drip loss of breast muscle of Japanese quail (Coturnix japonica). Twenty-two meat-type males (line F33) were crossed with twenty-two laying-type females (line S22) to produce a generation of F1 hybrids. The F2 generation was created by mating 44 randomly chosen F1 hybrids, which were full siblings. The birds were individually weighed from the first to eighth week of age. At the age of 19 wk, 2 to 4 eggs were individually collected from each female and an analysis of the egg quality traits was performed. At slaughter, blood and breast muscles were collected from 324 individuals of the resource population. The basic chemical composition, concentration of chosen macro- and microelements, color, pH, and drip loss were determined in the muscle samples. The concentration of chosen lipids was determined in egg yolk and blood plasma. In total, 30 microsatellite markers located on chromosome 1 and 2 were genotyped. QTL mapping including additive and dominance genetic effects revealed 6 loci on chromosome 1 of the Japanese quail affecting the egg number, egg production rate, egg weight, specific gravity, egg shell weight, concentration of Na in breast muscle. In turn, there were 9 loci on chromosome 2 affecting the body weight in the first, fourth, and sixth week of age, growth rate in the second and seventh week of age, specific gravity, concentration of K and Cu in breast muscle, and the levels of triacylglycerols in blood plasma. In this study, QTL with a potential effect on the Na, K, and Cu content in breast muscles in poultry and on specific gravity in the Japanese quail were mapped for the first time.