標(biāo)題: Titlebook: Clinical Cardiogenetics; Hubert F. Baars,Pieter A. F. M. Doevendans,J. Pete Book 20162nd edition Springer International Publishing Switzer [打印本頁] 作者: Animosity 時(shí)間: 2025-3-21 17:00
書目名稱Clinical Cardiogenetics影響因子(影響力)
作者: aesthetic 時(shí)間: 2025-3-21 21:03
Zusammenfassung und Handlungsempfehlungen,hies are characterized by incomplete penetrance, meaning that some mutation carriers will remain unaffected during their entire life, and variable expression, i.e. the type and severity of the disease can vary widely, even within families. The availability of diagnostic and management guidelines for作者: 組成 時(shí)間: 2025-3-22 02:49
https://doi.org/10.1007/978-3-642-56422-2ergo periodic cardiac evaluation for the presence of LVH. In about half of all patients, a disease causing mutation can be detected in one of the genes encoding for sarcomeric proteins. Detection of a disease causing mutation allows predictive genetic testing in relatives, and facilitates identifica作者: insipid 時(shí)間: 2025-3-22 06:40 作者: Enteropathic 時(shí)間: 2025-3-22 09:41
Christoph Seifarth,Frank L. Dederichsse gene. The nonisolated forms of LVNC are caused by a range of rare genetic defects. Until now, in half of familial isolated LVNC, the genetic defect remains unknown. Genetic defects in a large number of sarcomere and other cardiomyopathy genes and in genes primarily associated with skeletal myopat作者: STENT 時(shí)間: 2025-3-22 14:35 作者: STENT 時(shí)間: 2025-3-22 19:59
Introduction to Molecular Geneticsilies and populations” section. Although NGS is becoming the most widely used technique to identify mutations, still several other techniques are being applied and in the “Molecular Genetic Techniques” section an overview of all currently used methods is provided. With the use of the aforementioned 作者: 指耕作 時(shí)間: 2025-3-23 00:56 作者: 甜食 時(shí)間: 2025-3-23 02:33 作者: 強(qiáng)行引入 時(shí)間: 2025-3-23 07:57
Arrhythmogenic Cardiomyopathynormalities, ventricular arrhythmias with a LBBB morphology, functional and structural alterations of the RV, and fibro-fatty replacement in endomyocardial biopsy. Two-dimensional echocardiography, cineangiography and magnetic resonance are the imaging tools to visualize structural-functional abnorm作者: 子女 時(shí)間: 2025-3-23 09:53 作者: hallow 時(shí)間: 2025-3-23 17:32 作者: 頂點(diǎn) 時(shí)間: 2025-3-23 20:36 作者: Malleable 時(shí)間: 2025-3-23 22:24 作者: 松軟無力 時(shí)間: 2025-3-24 02:35
Restrictive Cardiomyopathyventricular noncompaction. Indeed, an autosomal dominantly segregating cardiomyopathy has been described where a single sarcomere gene mutation caused idiopathic RCM in some and HCM in other family members [1].作者: 退潮 時(shí)間: 2025-3-24 09:52 作者: 者變 時(shí)間: 2025-3-24 11:32
Brugada Syndromee last 20 years, major advances in clinical and mechanistic knowledge have provided very valuable information about the disease, but remaining questions still propel a large research activity on the subject. In this chapter, we review the present knowledge, on clinical, genetic, and molecular features of BrS.作者: 跳脫衣舞的人 時(shí)間: 2025-3-24 14:52 作者: 我就不公正 時(shí)間: 2025-3-24 22:44
nical management and signs?are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic.. . .Th作者: 魔鬼在游行 時(shí)間: 2025-3-25 02:07
https://doi.org/10.1007/978-3-322-89873-9 familial diseases. Both are specifically trained in communicating the implications of genetic information and genetic disease to patients and their families. Clinical geneticists and genetic counsellors often work together with cardiologists to ensure a high standard of care for families with cardiogenetic diseases.作者: 子女 時(shí)間: 2025-3-25 07:21
https://doi.org/10.1007/978-3-658-08575-9ardiomyopathies, muscular dystrophy, or syndromic disease, perturb a diverse set of important myocardial proteins to produce a final DCM phenotype. Recommendations on genetic screening and cardiac screening are provided in this chapter.作者: 包庇 時(shí)間: 2025-3-25 10:04
https://doi.org/10.1007/978-3-658-39621-3e-corrected QT interval (QTc) on the surface electrocardiogram (ECG). This chapter reviews the clinical presentation of LQTS, its diagnosis, and principles of management in the context of recent clinical advances and molecular genetics, with a focus on the most common forms of LQTS – LQT1, LQT2, and LQT3.作者: 持續(xù) 時(shí)間: 2025-3-25 13:30
Clinical Genetics familial diseases. Both are specifically trained in communicating the implications of genetic information and genetic disease to patients and their families. Clinical geneticists and genetic counsellors often work together with cardiologists to ensure a high standard of care for families with cardiogenetic diseases.作者: 跳脫衣舞的人 時(shí)間: 2025-3-25 18:23
Dilated Cardiomyopathyardiomyopathies, muscular dystrophy, or syndromic disease, perturb a diverse set of important myocardial proteins to produce a final DCM phenotype. Recommendations on genetic screening and cardiac screening are provided in this chapter.作者: Fretful 時(shí)間: 2025-3-25 21:08 作者: RODE 時(shí)間: 2025-3-26 00:59 作者: 親密 時(shí)間: 2025-3-26 06:54 作者: 吹牛者 時(shí)間: 2025-3-26 08:54
Book 20162nd editionh a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic.. . .The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a p作者: Decongestant 時(shí)間: 2025-3-26 13:03
Hans-Jürgen Siegert,Siegfried Bocioneking the correct etiology, guiding patient management and directing family screening. In this chapter, we discuss the differential diagnosis of CCD, guiding principles in cardiogenetic evaluation as well as specific genotype-phenotype correlations.作者: Encoding 時(shí)間: 2025-3-26 18:04
Hereditary Cardiac Conduction Diseasesing the correct etiology, guiding patient management and directing family screening. In this chapter, we discuss the differential diagnosis of CCD, guiding principles in cardiogenetic evaluation as well as specific genotype-phenotype correlations.作者: Emasculate 時(shí)間: 2025-3-26 22:04
https://doi.org/10.1007/978-3-658-08575-9ventricular noncompaction. Indeed, an autosomal dominantly segregating cardiomyopathy has been described where a single sarcomere gene mutation caused idiopathic RCM in some and HCM in other family members [1].作者: 屈尊 時(shí)間: 2025-3-27 04:27
Christoph Seifarth,Frank L. Dederichsitochondrial disease..Cardiomyopathy, however, may be the first and only symptom. MELAS syndrome with hypertrophic cardiomyopathy and Kearns-Sayre syndrome with progressive conduction disorders are two examples of mitochondrial disease.作者: Corral 時(shí)間: 2025-3-27 05:39
Robotik in der Wirtschaftsinformatike last 20 years, major advances in clinical and mechanistic knowledge have provided very valuable information about the disease, but remaining questions still propel a large research activity on the subject. In this chapter, we review the present knowledge, on clinical, genetic, and molecular features of BrS.作者: Adenoma 時(shí)間: 2025-3-27 09:39 作者: 和平 時(shí)間: 2025-3-27 16:09
Introduction to Molecular Geneticsmilial cases, but with the recent developments of Next Generation Sequencing (NGS) also to identify genetic components involved in complex genetic cardiac diseases and to implement personalized genomics into routine patient care. In this introductory chapter several aspects of molecular genetics wil作者: 粗魯性質(zhì) 時(shí)間: 2025-3-27 18:06 作者: 勤勉 時(shí)間: 2025-3-27 22:25 作者: 合適 時(shí)間: 2025-3-28 02:52
Hypertrophic Cardiomyopathys left ventricular hypertrophy (LVH) in the absence of abnormal loading conditions that may cause hypertrophy. The disease can present at any age and is highly variable in clinical expression. Patients can remain asymptomatic throughout their life, but HCM is also associated with premature mortality作者: bizarre 時(shí)間: 2025-3-28 07:52 作者: Throttle 時(shí)間: 2025-3-28 13:53 作者: 官僚統(tǒng)治 時(shí)間: 2025-3-28 15:43 作者: rheumatology 時(shí)間: 2025-3-28 20:40
Restrictive Cardiomyopathyof impaired diastolic filling. In the early stages, systolic function may be normal, but when the disease progresses, systolic function usually declines as well. There is an overlap with other types of cardiomyopathy, such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and left 作者: chalice 時(shí)間: 2025-3-29 00:44
Mitochondrial Cardiomyopathy skeletal muscles. Most of the mitochondrial diseases are caused by mutations in the nuclear DNA, but approximately 15% are caused by mutations in the mitochondrial DNA, making genetic counseling difficult. The combination of cardiomyopathy, deafness, diabetes, encephalopathy and myopathy suggests m作者: Cryptic 時(shí)間: 2025-3-29 04:49
Long QT Syndromeen death. It is caused by prolongation of the repolarization phase of the cardiac action potential, which may manifest as lengthening of the heart rate-corrected QT interval (QTc) on the surface electrocardiogram (ECG). This chapter reviews the clinical presentation of LQTS, its diagnosis, and princ作者: 繁忙 時(shí)間: 2025-3-29 09:25
Brugada Syndromea common phenotype: resuscitated from sudden cardiac death (SCD) caused by documented ventricular fibrillation (VF), showing a characteristic ST-segment elevation in the right precordial leads (Fig. 11.1) in a structurally normal heart. Nowadays, this entity is known as Brugada Syndrome (BrS). In th作者: 集聚成團(tuán) 時(shí)間: 2025-3-29 14:11 作者: figure 時(shí)間: 2025-3-29 16:54
Idiopathic Ventricular Fibrillationom sudden cardiac death. To date, the IVF was defined excluding other primary electrical disorders. IVF may not be composed of a single entity but contain multiple forms by clinical manifestations and possible pathogenetic backgrounds. In this chapter, IVF can be described in two groups: the early r作者: hurricane 時(shí)間: 2025-3-29 20:07 作者: 多產(chǎn)魚 時(shí)間: 2025-3-30 00:48 作者: 內(nèi)向者 時(shí)間: 2025-3-30 07:49
https://doi.org/10.1007/978-3-319-44203-7Hypertrophic cardiomyopathy; Short QT-syndrome; Brugada syndrome; Sudden cardiac death; Congenital heart作者: 沒有準(zhǔn)備 時(shí)間: 2025-3-30 11:07 作者: 易達(dá)到 時(shí)間: 2025-3-30 14:44 作者: dagger 時(shí)間: 2025-3-30 20:08 作者: STELL 時(shí)間: 2025-3-30 21:31
Zusammenfassung und Handlungsempfehlungen,e, hypertension, valvular disease, and congenital heart disease sufficient to explain the observed myocardial abnormality. We describe five main cardiomyopathy subtypes as outlined by the European Society of Cardiology: hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopat作者: 先兆 時(shí)間: 2025-3-31 00:57 作者: 深陷 時(shí)間: 2025-3-31 06:41
https://doi.org/10.1007/978-3-658-08575-9as been made in understanding the genetic basis of idiopathic dilated cardiomyopathy (iDCM). Rare variants in >30 genes, some also involved in other cardiomyopathies, muscular dystrophy, or syndromic disease, perturb a diverse set of important myocardial proteins to produce a final DCM phenotype. Re作者: 重力 時(shí)間: 2025-3-31 09:58 作者: B-cell 時(shí)間: 2025-3-31 15:04
