keyword
MENU ▼
Read by QxMD icon Read
search

Inherited cardiovascular

keyword
https://www.readbyqxmd.com/read/29648458/human-individual-radiation-sensitivity-and-prospects-for-prediction
#1
P Rajaraman, M Hauptmann, S Bouffler, A Wojcik
In the past few decades, it has become increasingly evident that sensitivity to ionising radiation is variable. This is true for tissue reactions (deterministic effects) after high doses of radiation, for stochastic effects following moderate and possibly low doses, and conceivably also for non-cancer effects such as cardiovascular disease, the causal pathway(s) of which are not yet fully understood. A high sensitivity to deterministic effects is not necessarily correlated with a high sensitivity to stochastic effects...
January 1, 2018: Annals of the ICRP
https://www.readbyqxmd.com/read/29628476/a-novel-truncating-lmna-mutation-in-patients-with-cardiac-conduction-disorders-and-dilated-cardiomyopathy
#2
Hiroshi Kawakami, Akiyoshi Ogimoto, Naohito Tokunaga, Kazuhisa Nishimura, Hideo Kawakami, Haruhiko Higashi, Chiharuko Iio, Tamami Kono, Jun Aono, Teruyoshi Uetani, Takayuki Nagai, Katsuji Inoue, Jun Suzuki, Shuntaro Ikeda, Takafumi Okura, Yasumasa Ohyagi, Yasuharu Tabara, Jitsuo Higaki
The cardiac phenotype of laminopathies is characterized by cardiac conduction disorders (CCDs) and dilated cardiomyopathy (DCM). Although laminopathies have been considered monogenic, they exhibit a remarkable degree of clinical variability. This case series aimed to detect the causal mutation and to investigate the causes of clinical variability in a Japanese family with inherited CCD and DCM.Of the five family members investigated, four had either CCD/DCM or CCD alone, while one subject had no cardiovascular disease and acted as a normal control...
April 6, 2018: International Heart Journal
https://www.readbyqxmd.com/read/29619932/mortality-and-morbidity-in-patients-with-osteogenesis-imperfecta-in-denmark
#3
Lars Folkestad
Ostegenesis imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1. Patients are grouped according to clinical severity and mode of inheritance according to Sillence's classification (originally 1979, updated 2014). According to our data, the population prevalence of OI in Denmark was 10.3 per 100,000, with 575 patients registered with an OI diagnosis in the National Patient Register and alive at the end of 2012 out of a total population of 5,602,628 persons...
April 2018: Danish Medical Journal
https://www.readbyqxmd.com/read/29610923/psoriasis
#4
Mark Lebwohl
Psoriasis, an inherited disorder of the immune system, presents most commonly in the skin and joints but is also associated with cardiovascular, metabolic, and neuropsychiatric effects. Treatments include topical therapy for mild disease; phototherapy and oral therapy, such as retinoids and immunomodulating agents; and targeted biologic therapies that have revolutionized treatment of psoriasis and psoriatic arthritis. Primary care physicians should be aware of the systemic associations of psoriasis and the treatments available for this disorder...
April 3, 2018: Annals of Internal Medicine
https://www.readbyqxmd.com/read/29598884/outcome-of-clinical-management-in-relatives-of-sudden-cardiac-death-victims
#5
Katrine M Müllertz, Morten K Christiansen, Anders K Broendberg, Lisbeth N Pedersen, Henrik K Jensen
BACKGROUND: International guidelines recommend clinical assessment of the surviving first-degree relatives of sudden cardiac death (SCD) victims to identify a probable cause of death and protect surviving relatives. Only few studies have reported the outcome of clinical management and follow-up of relatives to SCD victims. METHODS: We performed a retrospective cohort study of the clinical and genetic assessment of surviving relatives of SCD victims referred to the Clinic of Inherited Cardiac Diseases at Aarhus University Hospital, Denmark, between 1995 and 2016...
March 8, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29579626/applications-of-genetically-engineered-human-pluripotent-stem-cell-reporters-in-cardiac-stem-cell-biology
#6
REVIEW
Joe Z Zhang, Hongchao Guo, Joseph C Wu
The advent of human pluripotent stem cells (hPSCs) has benefited many fields, from regenerative medicine to disease modeling, with an especially profound effect in cardiac research. Coupled with other novel technologies in genome engineering, hPSCs offer a great opportunity to delineate human cardiac lineages, investigate inherited cardiovascular diseases, and assess the safety and efficacy of cell-based therapies. In this review, we provide an overview of methods for generating genetically engineered hPSC reporters and a succinct synopsis of a variety of hPSC reporters, with a particular focus on their applications in cardiac stem cell biology...
March 23, 2018: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/29561320/genetic-cardiomyopathies
#7
Jane E Wilcox, Ray E Hershberger
PURPOSE OF REVIEW: To describe recent advancements in cardiovascular genetics made possible by leveraging next-generation sequencing (NGS), and to provide a framework for practical applications of genetic testing for hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathies (ARVC). RECENT FINDINGS: The availability of NGS has made possible extensive reference databases. These, combined with recent initiatives to compile previously siloed commercial and research cardiomyopathy data sets, provide a more powerful and precise approach to cardiovascular genetic medicine...
March 19, 2018: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/29558024/predictors-of-poor-outcome-in-patients-with-left-ventricular-noncompaction-review-of-the-literature
#8
REVIEW
Marcin Kubik, Alicja Dąbrowska-Kugacka, Ewa Lewicka, Ludmiła Daniłowicz-Szymanowicz, Grzegorz Raczak
Left ventricular noncompaction (LVNC) is a unique inherited cardiomyopathy, characterized by an increased risk of adverse cardiovascular events such as heart failure, arrhythmia or sudden cardiac death. Although in comparison to dilated cardiomyopathy, the number of clinical studies concerning LVNC is still small, it is quickly increasing, which reflects a huge effort of the cardiovascular society to develop data to improve understanding of this cardiomyopathy. However, the predictors of adverse outcomes in LVNC are not well established...
March 16, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29548648/genetic-factors-in-sleep-disordered-breathing
#9
REVIEW
Kiminobu Tanizawa, Kazuo Chin
Sleep-disordered breathing (SDB) is characterized by repetitive episodes of decreased or arrested respiratory airflow during sleep. SDB is common and affects approximately 20% of the Japanese general population. Most traits of normal sleep and SDB show familial aggregation, suggesting significant effects of genetic factors. Obstructive sleep apnea (OSA) is the most common type of SDB and has a high heritability. Regardless of high heritability, no risk locus for OSA has reached a genome-wide level of significance (P < 5×10-8 ) in linkage or candidate gene analysis...
March 2018: Respiratory Investigation
https://www.readbyqxmd.com/read/29531935/a-rare-missense-mutation-and-a-polymorphism-with-high-frequency-in-ldlr-gene-among-iranian-patients-with-familial-hypercholesterolemia
#10
Masoud Tajamolian, Parisa Kolahdouz, Parvaneh Nikpour, Seyed Khalil Forouzannia, Mohammad Hasan Sheikhha, Ehsan Farashahi Yazd
Background: Familial hypercholesterolemia (FH) is a disorder that is inherited by autosomal dominant pattern. The main cause of FH disease is the occurrence of mutations in low-density lipoprotein receptor (LDLR) gene sequence, as well as apolipoprotein B and proprotein convertase subtilisin/kexin type 9 genes, located in the next ranks, respectively. Materials and Methods: Forty-five unrelated Iranian patients with FH were screened using a high-resolution melting (HRM) method for exon 9 along with intron/exon boundaries of LDLR gene...
2018: Advanced Biomedical Research
https://www.readbyqxmd.com/read/29520004/mechanical-dyssynchrony-and-diastolic-dysfunction-are-common-in-lvh-a-pilot-correlation-study-using-doppler-echocardiography-and-czt-gated-spect-mpi
#11
Szu-Ying Tsai, Shan-Ying Wang, Yu-Chien Shiau, Yen-Wen Wu
Hypertrophic cardiomyopathy (HCM) is an often under-diagnosed cause of left ventricular hypertrophy (LVH). It affects 1/500 of the population, is the most commonly inherited cardiovascular disorder, and can present in apical, concentric, or septal forms. Although most patients are asymptomatic, sudden cardiac death can be the initial presentation of HCM. By retrospectively enrolling patients suspected of having three different types of HCM in the absence of epicardial coronary stenosis, we aimed to examine systolic and diastolic dysfunction and perfusion abnormalities using both Doppler echocardiography and state-of-the-art gated single-photon emission computerized tomography (SPECT) myocardial perfusion imaging (MPI) with a cadmium-zinc-telluride camera and thallium-201...
March 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29514882/genomic-imprinting-growth-and-maternal-fetal-interactions
#12
REVIEW
Féaron C Cassidy, Marika Charalambous
In the 1980s, mouse nuclear transplantation experiments revealed that both male and female parental genomes are required for successful development to term ( McGrath and Solter, 1983; Surani and Barton, 1983). This non-equivalence of parental genomes is because imprinted genes are predominantly expressed from only one parental chromosome. Uniparental inheritance of these genomic regions causes paediatric growth disorders such as Beckwith-Wiedemann and Silver-Russell syndromes (reviewed in Peters, 2014). More than 100 imprinted genes have now been discovered and the functions of many of these genes have been assessed in murine models...
March 7, 2018: Journal of Experimental Biology
https://www.readbyqxmd.com/read/29506728/transforming-care-for-rare-and-inherited-cardiovascular-diseases-through-education-and-training
#13
EDITORIAL
Perry M Elliott, Paolo Camici
No abstract text is available yet for this article.
April 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29483987/neurofibromatosis-type-1-with-massive-ventricular-polyposis-first-report-in-the-medical-literature
#14
Georgi Tchernev, Anastasiya Atanasova Chokoeva, Uwe Wollina, Torello Lotti, Georgi Konstantinov Maximov, Ilia Lozev
BACKGROUND: Neurofibromatosis type 1 ( NF1 ) is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours. NF1 is caused by mutations in the NF1 gene, situated in chromosome 17q11.2, with an autosomal dominant pattern of inheritance and clinical manifestation of neurofibromas, malignant peripheral nerve sheath tumour, optic and non-optic nerve gliomas, congenital heart disease, cardiovascular and cerebrovascular disease and orthopaedic disorders...
January 25, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29478967/clinical-outcomes-in-patients-with-nonobstructive-labile-and-obstructive-hypertrophic-cardiomyopathy
#15
Dai-Yin Lu, Iraklis Pozios, Bereketeab Haileselassie, Ioannis Ventoulis, Hongyun Liu, Lars L Sorensen, Marco Canepa, Susan Phillip, M Roselle Abraham, Theodore P Abraham
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease characterized by varying degrees of left ventricular outflow tract obstruction. In a large cohort, we compare the outcomes among 3 different hemodynamic groups. METHODS AND RESULTS: We prospectively enrolled patients fulfilling standard diagnostic criteria for HCM from January 2005 to June 2015. Detailed phenotypic characterization, including peak left ventricular outflow tract pressure gradients at rest and after provocation, was measured by echocardiography...
February 25, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29473516/the-essential-role-of-primary-caregiver-in-early-detection-of-familial-hypercholesterolemia-and-cardiovascular-prevention
#16
Julie St-Pierre, Isabelle Ruel, Jacques Genest
Familial hyterolemipercholesa (FH) is a worldwide common autosomal inherited condition associated with premature cardiovascular diseases, both in men and in women (World frequency has been recently estimated to be as high as 1:250). Identifying FH cases early in life could represent a cornerstone to prevent adult's life fatal events. Pediatricians are well positioned to evaluate the familial cardiovascular risk factors among their young patients, to make a diagnosis and to perform familial screening. The goal of this paper is therefore to emphasize the recognition of this genetic condition at a younger age and to initiate both familial screening and a safe treatment...
February 21, 2018: Current Pediatric Reviews
https://www.readbyqxmd.com/read/29456246/mitochondrial-dysfunction-in-diabetic-kidney-disease
#17
REVIEW
Josephine M Forbes, David R Thorburn
Globally, diabetes is the leading cause of chronic kidney disease and end-stage renal disease, which are major risk factors for cardiovascular disease and death. Despite this burden, the factors that precipitate the development and progression of diabetic kidney disease (DKD) remain to be fully elucidated. Mitochondrial dysfunction is associated with kidney disease in nondiabetic contexts, and increasing evidence suggests that dysfunctional renal mitochondria are pathological mediators of DKD. These complex organelles have a broad range of functions, including the generation of ATP...
February 19, 2018: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/29443761/haemolytic-uremic-syndrome-due-to-infection-with-adenovirus-a-case-report-and-literature-review
#18
Victoria Birlutiu, Rares Mircea Birlutiu
RATIONALE: Haemolytic-uremic syndrome is a rare but serious complication of bacterial and viral infections, which is characterized by the triad of: acute renal failure, microangiopathic haemolytic anemia and thrombocytopenia, sometimes severe, requiring peritoneal dialysis. In Europe, hemolytic-uremic syndrome (HUS) in paediatric pathology is primarily caused by Shiga toxin-producing Escherichia coli (STEC) O157, followed by O26. Beside these etiologies, there are other bacterial and viral infections, and also noninfectious ones that have been associated to lead to HUS as well: in the progression of neoplasia, medication-related, post-transplantation, during pregnancy or associated with the antiphospholipid syndrome, systemic lupus erythematosus or family causes with autosomal dominant or recessive inheritance...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29438454/comparative-efficacy-of-antihypertensive-agents-in-salt-sensitive-hypertensive-patients-a-network-meta-analysis
#19
Han Qi, Zheng Liu, Han Cao, Wei-Ping Sun, Wen-Juan Peng, Bin Liu, Sheng-Jie Dong, Yu-Tao Xiang, Ling Zhang
Background: Salt-sensitive hypertension (SSH) is an intermediate inherited phenotype of essential hypertension as well as being an independent risk factor for cardiovascular disease. However, effective medications for the treatment of SSH have not been clarified. This study was to compare the efficacious of different classes of antihypertensive agents combined with salt intake on the reduction of blood pressure in patients with salt-sensitive hypertension (SSH). Methods: We used sources as PubMed, EMBASE, Cochrane Library, CENTRAL, ClinicalTrials...
February 9, 2018: American Journal of Hypertension
https://www.readbyqxmd.com/read/29437019/what-genetic-tell-us-about-cardiovascular-disease-in-diabetic-patients
#20
Habib Haybar, Mohammad Taha Jalali, Zeinab Deris Zayeri
BACKGROUNDS: Long term of diabetes cause other disease development such as cardiovascular disease (CVD). OBJECTIVE: Genetic can help us to predict cardiovascular disease in diabetic patients. Method and search strategy: we searched pubmed and googlescholar by the terms: Cardiovascular disease; Diabetes ; Polymorphism; Genetic from 2000 to 2017 then we included the relevant studies in our study. DISCUSSION: Essential role of inheritance in multifactorial disease is obviously clear, however, varies by disease and by other factors such as age of disease onset and subtype of disease...
February 11, 2018: Cardiovascular & Hematological Disorders Drug Targets
keyword
keyword
43794
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"