Insights into genetic diversity and phenotypic variations in domestic geese through comprehensive population and pan-genome analysis

Background Domestic goose breeds are descended from either the Swan goose(Anser cygnoides)or the Greylag goose(Anser anser),exhibiting variations in body size,reproductive performance,egg production,feather color,and other phenotypic traits.Constructing a pan-genome facilitates a thorough identification of genetic variations,thereby deepening our comprehension of the molecular mechanisms underlying genetic diversity and phenotypic variability.Results To comprehensively facilitate population genomic and pan-genomic analyses in geese,we embarked on the task of 659 geese whole genome resequencing data and compiling a database of 155 RNA-seq samples.By constructing the pan-genome for geese,we generated non-reference contigs totaling 612 Mb,unveiling a collection of 2,813 novel genes and pinpointing 15,567 core genes,1,324 softcore genes,2,734 shell genes,and 878 cloud genes in goose genomes.Furthermore,we detected an 81.97 Mb genomic region showing signs of genome selection,encompassing the TGFBR2 gene correlated with variations in body weight among geese.Genome-wide association studies utilizing single nucleotide polymorphisms(SNPs)and presence-absence variation revealed significant genomic associations with various goose meat quality,reproductive,and body composition traits.For instance,a gene encoding the SVEP1 protein was linked to carcass oblique length,and a distinct gene-CDS haplotype of the SVEP1 gene exhibited an association with carcass oblique length.Notably,the pan-genome analysis revealed enrichment of variable genes in the“hair follicle maturation”Gene Ontology term,potentially linked to the selection of feather-related traits in geese.A gene presence-absence variation analysis suggested a reduced frequency of genes associated with“regulation of heart contraction”in domesticated geese compared to their wild counterparts.Our study provided novel insights into gene expression features and functions by integrating gene expression patterns across multiple organs and tissues in geese and analyzing population variation.Conclusion This accomplishment originates from the discernment of a multitude of selection signals and candidate genes associated with a wide array of traits,thereby markedly enhancing our understanding of the processes underlying domestication and breeding in geese.Moreover,assembling the pan-genome for geese has yielded a comprehensive apprehension of the goose genome,establishing it as an indispensable asset poised to offer innovative viewpoints and make substantial contributions to future geese breeding initiatives.

Cardiomyopathies:Evolution of pathogenesis concepts and potential for new therapies

Cardiomyopathies are defined as diseases of the myocardium with associated structural and functional abnormalities. Knowledge of these pathologies for a long period was not clear in clinical practice due to uncertainties regarding definition,classification and clinical diagnosis. In recent decades,major advances have been made in the understanding of the molecular and genetic issues,pathophysiology,and clinical and radiological assessment of the diseases. Progress has been made also in management of several types of cardiomyopathy. Advances in the understanding of these diseases show that cardiomyopathies represent complex entities. Here,special attention is given to evolution of classification of cardiomyopathies,with the aim of assisting clinicians to look beyond schematic diagnostic labels in order to achieve more specific diagnosis. Knowledge of the genotype of cardiomyopathies has changed the pathophysiological understanding of their etiology and clinical course,and has become more important in clinical practice for diagnosis and prevention of cardiomyopathies. New approaches for clinical and prognostic assessment are provided based on contemporary molecular mechanisms of contribution in the pathogenesis of cardiomyopathies. The genotype-phe-notype complex approach for assessment improves the clinical evaluation and management strategies of these pathologies. The review covers also the important role of imaging methods,particularly echocardiography,and cardiac magnetic resonance imaging in the evaluation of different types of cardiomyopathies. In summary,this review provides complex presentation of current state of cardiomyopathies from genetics to management aspects for cardiovascular specialists.

Transcatheter aortic valve implantation： a revolution in the therapy of elderly and high-risk patients with severe aortic stenosis

Transcatheter 大动脉的阀门培植(TAVI ) 与严重征兆的大动脉的阀门狭窄为老或高风险的外科的病人的治疗在 interventional 心病学的地里代表一条真实革命。今天， TAVI 似乎与严重大动脉的狭窄在中间、也许低风险的病人的治疗玩一把钥匙和一个可靠角色。TAVI 也由新一代设备的发展从一个复杂、危险的过程演变为有效、安全的治疗。这篇文章试图与旧、新的一代 TAVI 设备考察 TAVI，临床的审判和注册表的背景和未来并且集中于与 procedural 以后结果有关的一些开的问题。

Early mortality and safety after transcatheter aortic valve replacement using the SAPIEN 3 in nonagenarians

BackgroundTranscatheter 大动脉的阀门代替(TAVR ) 与严重大动脉的狭窄为许多老病人被执行了(作为) 。智慧 3 是最近的汽球可扩充的修复术之一。试图用在 97 个连续病人全部的 nonagenarians.MethodsA 的 SAPIEN 3 在 TAVR 以后调查早临床的结果的这研究经历了 TAVR 为象在 2015 年 12 月和 2016 年 12 月之间严重。这些，用 SAPIEN 3 经历了 TAVR 的 85 个连续病人被包括。根据年龄，病人们被分类直到 90 年组织的年龄(17 个病人) 或年龄 < 90 年组(68 个病人) 。包括所有原因死亡和在 30 天的早安全的合成端点的临床的结果是在年龄 90 年组的胸的外科医生分数的 evaluated.ResultsThe 社会比年龄高< 90 年组( 12.3 慳敧愠??敲楧湯污猠慣敬愠摮?湩瀠牡楴畣慬?映牯搠晩敦敲瑮氠湡?獵?祴数?渠敥?潭敲爠獥慥'??畯?景琠敨洠獯?楷敤祬搠獩牴扩瑵摥氠湡?獵?祴数?敷敲猠汥'陶?潴愠慮祬敺?湩汣摵湩?湩牴摯'讚硴城嬊Ｎ蹡P慲獳慬摮?獡眠汥?獡椠瑮潲畤散?湡?慮畴慲?桳畲汢湡?匠楯?慰瑲捩敬猠穩?猠楯?牯慧楮?慭瑴牥愠摮漠桴?

Changes in coronary bifurcations after stent placement in the main vessel and balloon opening of stent cells:theory and practical verification on a bench-test model

Objective To describe changes that occur in stent morphology and structure after its implantation in coronary bifurcation.Side branch (SB) compromise after stenting of main vessel in coronary bifurcation is a major intraprocedural problem and for the long term,as a place of restenosis.Methods We created an elastic wall model (parent vessel diameter 3.5mm,daughter branches 3.5mm and 2.75mm)with 30,45 and 60 degree distal angulation between branches.After stent implantation,struts to the side branch were opened with 2.0mm and consequently 3.0mm diameter balloons.Subsequent balloon redilatations and kissing balloon inflations (KBI) were performed.All stages of the procedure were photographed with magnification up to 100 times.Results We found that the leading mechanism for side branch compromise was carina displacement,and discovered theoretical description for expected ostial stenosis severity.Based on our model we found that displacement of bifurcation flow divider cause SB stenosis with almost perfect coincidence with our theoretical predictions.Opening of stent cells through the proximal and distal stent struts always increased interslrut distance,but never achieved good apposition to the wall.Balloon diameter increase didn't give proportional enlargement in stent cell diameters.KBI leads to some small better stent positioning,correcting main vessel strut dislodgment from wall,but never gave full strut-wall contact.Distance between struts and wall was minimal only when the stent cell perfectly faced ostium of SB.This was also our observation that the shape of ostium of SB becomed eUiptically-bean shaped after stent implantation and generally kept that shape during consequent stages of experiment.Measured diameter and area stenosis were perfectly fitted and theoretically predicted from our concept Conclusion We have described stent-wall deformations in stent-balloon technique for treatment of coronary bifurcation demonstrating carina displacement as possibly main mechanism of side branch compromise after main vessel stenting.We have shown that KBI could not give full strut-wall contact if there is no perfect facing of stem cell and SB ostium.(J Geroatr Cardool 2008;5(1):43-49)

Misdiagnosed Aortic Intramural Hematoma and the Role of Intravascular Ultrasound Imaging in Detection of Acute Aortic Syndrome:A Case Report

Acute aortic syndrome includes classic aortic dissection,aortic intramural hematoma,and penetrating atherosclerotic ulcer– a group of conditions that are defined by their dynamic evolution and similar clinical manifestation.Accurate diagnosis and prompt treatment are essential as all the aforementioned conditions are a signifi cant threat to a patient’s life.However,acute aortic syndrome and especially aortic intramural hematoma may be challenging diagnostic problems.Intravascular ultrasound imaging is a diagnostic method that can be useful for more thorough evaluation of the aortic lesion and can particularly aid in discerning the different forms of acute aortic syndrome.We present a case of a patient with aortic intramural hematoma that was missed by conventional imaging studies but was successfully visualized with intravascular ultrasound imaging.

经皮冠状动脉介入的遥控操作:概念、验证和首次人体临床试验

OBJECTIVES: This study was designed to assess the feasibility and safety of a Remote Navigation System(RNS, NaviCath, Haifa, Israel) in which the angioplasty guidewire, the balloon, and the stent are navigated via a computerized system. BACKGROUND: Percutaneous coronary interventions(PCIs) are manually performed under fluoroscopic guidance, requiring lead protection for the operators. A system in which the operator can remotely, safely, and precisely navigate the procedure during PCI would have clear advantages. METHODS: The RNS involves a computer-controlled wire and delivery system navigator. Following preclinical validation, the system was assessed in patients undergoing single-vessel PCI. RESULTS: The study involved 18 patients(age 55.9 years, 16% women). The RNS successfully crossed lesions with the guidewire in 17 patients. The stent was then advanced by the advance/rotate mode and adequately positioned in 15 of 17 cases. Technical malfunction was encountered in three patients in whom the procedure was successfully completed manually. Direct stenting was employed in 10 of 18 patients,pre-dilation in 7 patients, and after-stent balloon dilation in 5 patients. The total fluoroscopy time for 17 RNS patients was compared with the corresponding time of 20 consecutive patients who underwent standard single lesion PCI. Fluoroscopy time was similar for both procedures, with 8.8± 4.8 min with the RNS versus 9.1± 3.5 min with the standard techniques(p=NS). Clinical success was 100% and technical success 94% for the guidewire and 83% for the overall procedure. CONCLUSIONS: The use of the RNS for guidewire, balloon, and stent manipulation during PCI appears safe and feasible for the treatment of patients with coronary stenosis. The system offers operator radiation safety and may enhance precision of stent placement and balloon dilation strategies.

Conduction abnormalities after transcatheter aortic valve implantation

在最后几年里， transcatheter 大动脉的阀门培植(TAVI ) 为外科的大动脉的代替与严重大动脉的狭窄和高风险在病人成为了一个其他的过程。由于在大动脉的阀门结构和心的传导系统之间的解剖关联，在 TAVI 以后的最普通的复杂并发症之一是哪个的传导系统骚乱包括为永久心律调整器培植的捆分支块，完全的心块和需要。尽管这些骚乱通常不是致命的，他们可以在病人状态和长术语幸存上有大影响。为传导骚乱的几个风险因素被识别了，先存在它包括年龄，心的解剖， periprocedural 因素，植入的阀门的类型畸形和 comorbidities。当这种技术对医生变得更熟悉，病人们应该小心地为传导畸形的发展为风险因素被屏蔽在 TAVI 以后以便提供有效预防和合适的治疗。

Theoretical prediction of side branch compromise after main branch stenting in coronary bifurcation

One of the main problems of treatment of bifurcation lesions is side branch (SB) stenosis appearing after stent placement in the main vessel. The aim of this study was to create quantitative method for prediction of side branch compromise extent. We accepted that the main mechanism for SB ostial stenosis is flow divider (FD) displacement from stent struts after stent implantation in the main vessel. Using easily measurable parameters from coronary angiography, as SB diameter, angle á (initial angle between axes of parent vessel and SB axis) and angle á' (angle between above mentioned axes after stent placement) we can calculate percentage diameter stenosis at branch ostium (%DS): %DS = sin (á - á')/(tan á). In boundary condition of full FD displacement %DS = cos á. We tested our theoretical predictions with fluoroscopic observation of elastic wall model of bifurcation (45o distal angle between branches) permitting wall deformations with stent. There is full coincidence of values of %DS and percentage area stenosis (%AS). The regular formulas for calculations of %DS and %AS overestimate stenosis severity between 10% and 25%. Our model tests have shown full coincidence between predicted values for %DS and observed values. We demonstrate that part of the SB ostium is not visible in regular angiography and contributes to ostial lumen area. This is a method that permits quantitative prediction of side branch compromise.

Large eustachian valve fostering paradoxical thromboembolism:passive bystander or serial partner in crime?

Catheter-based closure of patent foramen ovale(PFO)is more effective than medical therapy in the prevention of recurrent stroke[1].It is likely that a proportion of patients evaluated for potential transcatheter PFO closure has actually different anatomical variants particularly common in the right atrium such as eustachian valve,Chiari network,Thebesian valve and Crista Terminalis.Notably,the eustachian valve may represent an increased risk factor for left circulation thromboembolism beyond that associated with PFO size and shunting.Such patients may benefit the most from percutaneous closure procedure.

Association between resting energy expenditure, psychopathology and HPA-axis in eating disorders

AIM: To investigate the complex relationships between resting energy expenditure(REE), eating psychopathology, and Hypothalamus Pituitary Adrenal axis functioning in patients with eating disorders. METHODS: The study was designed as a crosssectional survey, and it was planned by the Clinic for Eating Disorders of the University of Florence(Italy). The protocol was approved by the Ethics Committee of the Institution. Twenty two anorexia nervosa and twenty one Bulimia Nervosa patients were assessed by means of a clinical interview and the structured clini-cal interview for diagnostic and statistical manual of mental disorders, fourth edition. Eating attitudes and behaviour were specifically investigated by means of the eating disorder examination questionnaire(EDE-Q). Patients were also evaluated by means of the symptom checklist(SCL 90-R), REE was measured by means of indirect calorimetry, and blood cortisol morning levels were evaluated. RESULTS: Both anorexia nervosa and bulimia nervosa patients showed a reduced REE as compared with predicted REE. Body mass index(BMI) was positively associated with resting energy expenditure in Bulimics, whereas a strong, negative association between BMI and REE was observed in Anorectics. The pattern of associations between variables supported a mediation model, where shape concern accounted for variations in REE and cortisol levels(mediator), and variations in the mediator significantly accounted for variations in REE. When these associations where taken into account together, the relationship between shape concern and REE was no longer significant, whereas the association between cortisol levels and REE retained its significance, showing strong evidence for a single, dominant mediator. Anorectics and Bulimics showed an opposite pattern of association between BMI and REE. In Anorectics only, a higher REE was associated with a more severe eating disorder specific psychopathology, and cortisol levels represent a possible mediating factor for this relationship. CONCLUSION: The data supported a mediation model where cortisol levels mediated the relationship between eating psychopathology(concern about body shape) and REE.

The Role of Nursing Care in Drug Compliance and Quality of Life in Patients after Coronary Artery “Bypass” Surgery

Cardiovascular disease (CVD) is a broad term that includes a whole range of diseases that affect the heart and blood vessels. Cardiovascular diseases (and not only) or as they are known by the abbreviation (SKV), are as numerous as they are complex, attacking the heart and blood vessels, causing many deaths globally, not to mention, are among the main causes. Arteriosclerosis is diagnosed, mainly on the basis of family and medical history, in which case a physical examination and specific tests are performed, which include: blood tests, Doppler ultrasound, electrocardiogram, chest X-ray, echocardiography, angiography and stress test, etc. The study was conducted at the University Clinical Center of Kosovo (UCCK). The paper is based on data obtained from the research protocol of patients of this clinic, in the period 2016-2018. This study included 100 patients with heart disease and their treatment, with special emphasis on coronary artery bypass grafting. Our goal was to emphasize the care, as well as the quality of life of patients, after coronary artery bypass surgery. This process has always been supervised by the head nurse of the clinic, in order to fully preserve the privacy of the patients included in this research. From the results of this research, we found that males dominate in the number of patients included in the study, age over 50 dominates, and we also found that most patients have relatives who suffer from heart disease. We also see that 18% of patients continue to smoke after surgery, while 70% of them stated that their health after surgery is much better than last year, and 84% of them stated that they use therapy after surgery. Data from another study were performed by the hospital CHF, Self-Care (Self-Care of Heart Failure Index). The results are based on 280 patients, 123 of whom were male and 157 female, their marital status showing that 203 of them were married and that the average age of the patients ranged from 67.2 to 13.4 years. In this study, 147 stated that they had relatives or parents with heart disease, and 133 of them did not. Here we have a difference between the two studies because 79 (29.8%) patients are smokers out of 280 patients interviewed, so here we have a smaller number of smokers than in our country. While researching elsewhere, most of them emphasized that they value health much more after surgery. With regard to drugs, it was concluded that this example shows that patients who did not have a partner who reminded them to take drugs were less compatible with drugs, compared to those who had a partner or friend. Therefore, in conclusion, we find that the use of drugs after surgery helps to improve the health of patients.

Effects of chronic and subtoxic chlorobenzenes on adrenocorticotrophic hormone release

Many environmental chemicals and pesticides have been found to alter neuroendocrine communication in exposed biological objects. The environmental loads have primary and secondary effects that can alter the homeostatic regulation potential. Since it is difficult to avoid human exposition, a potentially important area of research to develop in vivo and in vitro experimental models. In this context, the primary aim of this study was to demonstrate the effects of chlorobenzenes on adrenocorticotrophic hormone（ACTH） release. In our experimental study, male Wistar rats were exposed to 0.1, 1.0 and 10 μg/b.w.（body weight） kg of 1,2,4-trichlorobenzene and hexachlorobenzene（Cl B） mix via gastric tube for 30, 60 or 90 days. At the endpoints of the experiment blood samples were taken and animals were decapitated. Primary,monolayer adenohypophysis cell cultures were prepared by enzymatic and mechanical digestion. The ACTH hormone content in serum and supernatant media was measured by immuno-chemiluminescence assay. The Mg2＋-dependent ATPase activity was determined by modified method of Martin and Dotty. Significant differences were detected in the hormone release between the control and treated groups. The hormone release was enhanced characteristically in exposed groups depending upon the dose and duration of exposure. The Mg2＋-ATPase activity enhanced after chronic and subtoxic Cl B exposition. Light microscopy revealed that the adenohypophysis seemed to be more abundant. Results indicate that Wistar rats exposed to subtoxic Cl B have direct and indirect effects on hypothalamus–hypophysis–adrenal axis.