AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social PhenomenaInformation ScienceNamed GroupsHealth CareGeographicals
HomozygoteHeartHeart RateHeart FailureHeterozygoteGenotypeHeart DiseasesPolymorphism, GeneticHeart Defects, CongenitalHeart TransplantationAllelesFetal HeartGene FrequencyHeart ValvesGenetic Predisposition to DiseasePolymorphism, Single NucleotideHeart AtriaHemochromatosisPhenotypeMutationHeart BlockRisk FactorsMyocardiumCase-Control StudiesHeart Arrest, InducedHeart Function TestsMyocardial ContractionCoronary DiseaseHaplotypesGenetic VariationMyocardial IschemiaHeterozygote DetectionMice, Mutant StrainsTime FactorsMyocytes, CardiacGenes, LethalHemodynamicsMyocardial InfarctionPolymerase Chain ReactionApolipoprotein E2PedigreeCardiac Output, LowGenes, RecessiveBase SequenceVentricular Function, LeftHyperlipoproteinemia Type IIMolecular Sequence DataCatechol O-MethyltransferaseProspective StudiesCohort StudiesHeart, ArtificialHeart Failure, SystolicAlbinismPerfusionMethylenetetrahydrofolate Reductase (NADPH2)Cardiomyopathy, DilatedCardiomegalyCrosses, GeneticHeart InjuriesPolymorphism, Restriction Fragment LengthHeart Rate, FetalHeart SeptumCardiotonic AgentsDisease Models, AnimalRheumatic Heart DiseaseStroke VolumeCardiomyopathiesEchocardiographyMyocardial Reperfusion InjuryGenetic Association StudiesReference ValuesHeart ArrestPoint MutationAsian Continental Ancestry GroupEuropean Continental Ancestry GroupFollow-Up StudiesHeart Valve ProsthesisVentricular Dysfunction, LeftAdrenergic beta-AntagonistsHeart Failure, DiastolicGenetic TestingMice, Inbred C57BLRNA, MessengerAmerican Heart AssociationMice, KnockoutTreatment OutcomeVentricular RemodelingDogsLinkage DisequilibriumExonsGenetic MarkersMutation, MissenseMembrane ProteinsOdds RatioRiskBiological MarkersOxygen ConsumptionAge FactorsGenes, DominantDNA Mutational Analysis
HeterozygotesC282YGenotypeHemochromatosisMutationCongenital heart diseasesFerritin levelsPatientsCoronaryGeneticsPathogenicHeFHManifestsPhenotypeSevereCongestive heart fFindingsVariantsManifestationsLiverEchocardiographicDiseaseThrombophiliaFailureCharacteristicsBiochemicalBabiesStatinManifestationInfectionCardiacResearchPracticeDefectsAdvancesRespiratoryTargetsChemistryPatientRisk
Heterozygotes11
  • [ 25 ] A number of different mutations have been described and, outside of populations displaying a strong founder effect, most affected individuals are compound heterozygotes rather than true homozygotes. (medscape.com)
  • Cats with two copies of the mutation (homozygotes) have earlier onset and increased severity of the disease compared to those with only one copy of the mutation (heterozygotes). (wisdompanel.com)
  • The existence of the A5673G mutation, either in heterozygotes or in homozygotes, is associated with elevated levels of lipoprotein alpha. (athenslab.gr)
  • Among these patients, there were 54 wild-type homozygotes (AA), 53 heterozygotes (AG) and 21 mutant homozygotes (GG). (spandidos-publications.com)
  • A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). (beds.ac.uk)
  • Indeed, the most severe cases of clinical iron overload are seen in C282Y homozygotes, and research studies have shown that C282Y/H63D compound heterozygotes have a lower risk of hemochromatosis-related morbidity. (jillcarnahan.com)
  • The cohort consisted of 1,021 Pi*MM homozygotes, 55 Pi*MZ heterozygotes, and 32 carriers of the Pi*MS genotype of the SERPINA1 gene. (csgh.cz)
  • in 46 of 55 Pi*MZ heterozygotes, in 10 of 18 Pi*MM homozygotes, and in 1 of 29 Pi*MS genotype carriers, i.e. in patients in whom the histological examination of the explanted liver revealed PAS-D (Periodic Acid-Schiff Diastase) positive granules in the cytoplasm of hepatocytes. (csgh.cz)
  • Sanger sequencing of the coding regions and adjacent non-coding regions of the SERPINA1 gene was performed in all 55 Pi*MZ heterozygotes, in 7 Pi*MM homozygotes, and in one Pi*MS genotype carrier with immunohistochemical evidence of AAT granules in hepatocytes. (csgh.cz)
  • The mechanism of liver damage in Pi*MZ heterozygotes is the same as in Pi*ZZ homozygotes and consists of a proteinopathic effect caused by the precipitation of variant AAT in the endoplasmic reticulum of hepatocytes. (csgh.cz)
  • Given the higher frequency of the variant, only compound heterozygotes were initially referred, allowing for optimization of hearing evaluation and surveillance algorithms before a planned expansion in early 2023 to include V37I homozygotes. (cdc.gov)
C282Y3
  • The frequency of the C282Y variant averages 7% in Northern European and North American White populations, resulting in a 0.5% frequency of homozygotes (of whom 38-50% will develop biochemical evidence of iron overload but only 28% of men and 1% of women will develop clinical symptoms). (mhmedical.com)
  • 45% is virtually absolute, identifying 97%-100% of C282Y homozygotes. (medscape.com)
  • Serum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homozygotes with elevated and normal ferritin levels van Dijk BA, Laarakkers CM, Klaver SM, Jacobs EM, van Tits LJ, Janssen MC, Swinkels DW. (hepcidinanalysis.com)
Genotype5
  • No direct evidence was found for clinical utility of statin prescription guided by SLCO1B1 genotype. (plos.org)
  • We genotyped SNP rs6817105 and examined the relationships among rs6817105 genotype, clinical characteristics, echocardiographic parameters, and electrophysiological parameters in 574 AF patients and 1,554 non-AF controls. (nature.com)
  • The relationships between rs6817105 genotype and various clinical and functional parameters are shown in Table 1 . (nature.com)
  • People with the so-called TT homozygote genotype with low folate status are reported to have higher homocysteine concentrations than the other genotypes, putting this subset at increased risk of CAD and cognitive decline. (nutraingredients-usa.com)
  • Among clinical characteristics, a history of COPD, emphysema, and bronchiectasis were significant predictors for Pi*ZZ, whereas a history of asthma, cough and phlegm were predictors of not carrying the genotype Pi*ZZ. (biomedcentral.com)
Hemochromatosis3
  • H63D homozygotes do not develop hemochromatosis but may be at increased risk for amyotrophic lateral sclerosis, and carriers may be at increased risk for non-cardia gastric cancer. (mhmedical.com)
  • In preparing for my discussion with him, I had a valuable resource at hand in the recently published clinical guideline on hereditary hemochromatosis from the American College of Gastroenterology, authored by Dr Kris Kowdley and colleagues. (medscape.com)
  • Novel observations in hereditary hemochromatosis: potential implications for clinical strategies Swinkels DW, Fleming RE. (hepcidinanalysis.com)
Mutation1
  • Clinical features the diagnosis and general measures the spectral gradient of mm hg decrease in the context of the prothrombin gene mutation studies not possible and if there is now recommended as second-line treatments and supportive therapy is believed to be noted. (elastizell.com)
Congenital heart diseases3
  • Skeletal abnormalities, such as short stature and scoliosis are seen in the LQT7 type (Andersen syndrome), and congenital heart diseases, cognitive and behavioral problems, musculoskeletal diseases, and immune dysfunction may be seen in those with LQT8 type (Timothy syndrome). (medscape.com)
  • Clubbing, as illustrated below, is seen in persons with cyanotic congenital heart diseases (eg, tetralogy of Fallot, Eisenmenger syndrome). (medscape.com)
  • Rationale: Transposition of the great arteries (TGA) is one of the most severe types of congenital heart diseases (CHD). (stanford.edu)
Ferritin levels1
  • A third gene variant (S65C) may lead to increased serum iron and ferritin levels without clinical significance (type 1c). (mhmedical.com)
Patients10
  • Patients with both GSD IIIa and IIId apparently have a generalized debrancher activity deficiency, which has been identified in liver, skeletal muscle, heart, erythrocytes, and cultured fibroblasts. (medscape.com)
  • At Mass General, the brightest minds in medicine collaborate on behalf of our patients to bridge innovation science with state-of-the-art clinical medicine. (massgeneral.org)
  • A history of cardiac events is the most typical clinical presentation in patients with LQTS. (medscape.com)
  • [ 1 ] This increase in QTc in response to standing may persist in these patients even after their heart rate returns to normal. (medscape.com)
  • An international, multicenter registry that collected clinical data on patients with pyruvate kinase deficiency found that 93% of newborns were treated with phototherapy, and 46% were treated with exchange transfusions. (medscape.com)
  • In addition to the clinical predictors, findings from pretreatment resting-state functional MRI (fMRI) for 112 patients showed significant differences between those who did and those who did not achieve remission with CBT compared with antidepressant therapy, reported coauthor Boadie Dunlop, MD, of Emory University. (medscape.com)
  • The clinical data suggest that testing should be primarily offered to patients with COPD, emphysema, and/or bronchiectasis. (biomedcentral.com)
  • Return to previous screen He currently cares for >2500 patients in his lipid clinic, including >500 patients with heterozygous FH as well as 6 FH homozygotes. (ilove-mybody.de)
  • However, few unequivocal mutations of TBX1 and CRKL have been discovered in isolated conotrucal heart defects (CTDs) patients. (biomedcentral.com)
  • Diagnosis is by sweat test or identification of 2 cystic fibrosis-causing gene variants in patients with a positive newborn screening test result or characteristic clinical features. (msdmanuals.com)
Coronary8
  • Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C), cholesterol deposition in the skin and tendons, and premature coronary heart disease. (acc.org)
  • 1 In 1938, Müller linked xanthomas, elevated cholesterol, and coronary heart disease to an in-born error of metabolism from a single gene defect. (acc.org)
  • Arcus corneae and tendon xanthomas appear at the end of the second decade, and clinical symptoms of coronary heart disease appear by the fourth decade. (acc.org)
  • Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias. (ox.ac.uk)
  • BACKGROUND: Moderately elevated blood levels of homocysteine are weakly correlated with coronary heart disease (CHD) risk, but causality remains uncertain. (ox.ac.uk)
  • Polymorphisms in the lipoprotein alpha [Lp(a)] gene appear to predispose to coronary heart disease, vascular stroke, early atherosclerosis, thrombosis, and stroke. (athenslab.gr)
  • The case fatality rate for coronary heart disease and other CVDs is higher in India than in the developed countries. (hindawi.com)
  • The purpose of this research was to evaluate the contributions of CYP24A1 variants to coronary heart disease (CHD) among the Chinese Han population. (biomedcentral.com)
Genetics3
  • She directs the Lipid Clinic, Atherogenomics Laboratory & Ruddy Canadian Cardiovascular Genetics Centre at the Ottawa Heart Institute and is a key Canadian opinion leader in the area of clinical lipidology and cardiovascular risk reduction. (ilove-mybody.de)
  • Over the last thirty years, our fundamental understanding of the genetics and pathogenesis of congenital heart disease has lagged the tremendous advances in the surgical and clinical care of infants with this group of disorders. (stanford.edu)
  • She currently works on the genetics team of the Newborn Screening Ontario Hearing Loss Risk Factor Screening program, as well as running the CHEO IHP Designated Training Centre, and providing clinical Audiology care at CHEO. (cdc.gov)
Pathogenic1
  • Altogether, our studies describe the expansion of the phenotypic spectrum in ADD3 deficiency associated with a homozygous likely pathogenic KAT2B variant and thereby identify KAT2B as a susceptibility gene for kidney and heart disease in ADD3-associated disorders. (nih.gov)
HeFH2
  • The prevalence of HeFH has been estimated to be about 1:500, and 1:1 million for HoFH making it the most common monogenic disorder encountered in clinical practice. (acc.org)
  • 14 Epidemiological surveys of individuals with clinical FH suggest the frequency of HeFH is ten-fold higher and an HoFH prevalence of 1:100,000. (acc.org)
Manifests1
Phenotype1
  • however, homozygotes with a more severe phenotype have also been reported (Meretoja, 1973). (nih.gov)
Severe2
  • Besides, we evaluated the impact of additional screening efforts and the changes of the detection rate over time, and analysed the relevance of clinical parameters in the prediction of severe AATD. (biomedcentral.com)
  • Understanding the clinical characteristics and pathogenesis of TGA is therefore urgently needed for patient management of this severe disease. (stanford.edu)
Congestive heart f1
  • The clinical signs most commonly noted with the disease are respiratory signs associated with congestive heart failure such as tachypnea, exercise intolerance and panting, difficulty breathing, and (rarely) coughing. (wisdompanel.com)
Findings2
  • Test results should be interpreted in relation to each individual case and family history, clinical findings, and the results of other laboratory tests and information. (athenslab.gr)
  • These findings were published in March in the Journal of Consulting and Clinical Psychology . (medscape.com)
Variants2
  • The missense variant rs111850950 was described in the NCBI SNP database as having no clear clinical significance, while the remaining missense variants rs709932, rs20546, rs6647, and rs1303 - PiM3 are considered benign. (csgh.cz)
  • However, there is no strict relationship between specific variants and disease manifestation, so clinical testing (ie, of organ function) rather than genotyping is a better guide to prognosis. (msdmanuals.com)
Manifestations1
  • OBJECTIVES: Mitochondrial diabetes mellitus is caused by dysfunctional mitochondria and is often misdiagnosed because of its various clinical manifestations. (bvsalud.org)
Liver1
  • From the abstract: 'Clinical and population-based cohorts revealed an interaction between the inherited PNPLA3 p.I148M variant and female sex in determining liver disease. (cdc.gov)
Echocardiographic1
  • Clinical and echocardiographic signs typically appear after the cat has reached breeding age, as the most common age of diagnosis for HCM is five to seven years. (wisdompanel.com)
Disease14
  • Should the disease progress to heart failure, medications for treatment of cardiac failure are indicated. (wisdompanel.com)
  • Please note: It is possible that disease signs similar to the ones caused by the HCM variant could develop due to a different genetic or clinical cause. (wisdompanel.com)
  • Consequently, more clinical attention should be raised for mitochondrial disease as cause for disturbances in electrolyte homeostasis. (bvsalud.org)
  • People now almost universally accept that amyloid starts the disease, but they also accept universally that tau tangles are much closer to the clinical symptoms of the disease. (beingpatient.com)
  • You take statin for heart disease, but if you're having a heart attack, you don't pop a statin tablet. (beingpatient.com)
  • Hypertension, smoking, diabetes, and physical inactivity have been identified as modifiable risk factors for heart disease. (hindawi.com)
  • Hypercholesterolemia is the most common and treatable cause of heart disease. (hindawi.com)
  • High cholesterol level, the major modifiable risk factor for heart disease, has both an environmental as well as a genetic component. (hindawi.com)
  • Folic acid is known to lower plasma homocysteine levels, and high levels of the amino acid, hyperhomocysteinemia, are a marker for heart disease and thought to be a risk factor for atherosclerotic disease, which contributes to heart attacks. (nutraingredients-usa.com)
  • In the case of a recessive disease, if one abnormal gene is inherited, the child will not show clinical disease, but they will pass the abnormal gene to 50% (on average) of their offspring. (health.am)
  • With my combined research training in genomics and clinical training in pediatric cardiology I endeavor to close this gap with investigation into the genetic basis of congenital heart malformations and developing new models of disease. (stanford.edu)
  • My goal is translate an improved molecular genetic and developmental understanding of congenital heart disease from the laboratory into clinically actionable models, diagnostics, and ultimately therapeutic interventions. (stanford.edu)
  • Adults With Mild-to-Moderate Congenital Heart Disease Demonstrate Measurable Neurocognitive Deficits. (stanford.edu)
  • Background Neurocognitive impairment is a common complication of congenital heart disease (CHD) as well as acquired cardiovascular disease. (stanford.edu)
Thrombophilia1
  • The clinical appearance of an underlying thrombophilia mainly involves venous thromboembolism, which is manifested as deep vein thrombosis, pulmonary embolism , or superficial vein thrombosis . (athenslab.gr)
Failure6
Characteristics2
  • However, the clinical characteristics and genetic etiology underlying TGA remain largely unexplored. (stanford.edu)
  • Objective: We sought to systematically examine the clinical characteristics and genetic etiology for isolated nonsyndromic TGA. (stanford.edu)
Biochemical1
  • There is also uncertainty about the relationship between clinical symptoms, and levels of biochemical markers of muscle toxicity such as serum creatine kinase (CK). (plos.org)
Babies1
  • In our programme, affected babies who are detected and treated promptly have good clinical outcomes. (kkh.com.sg)
Statin2
  • The purpose of this paper is to assemble evidence relating to the analytical validity, clinical validity and clinical utility of using SLCO1B1 rs4149056 genotyping to inform choice and dose of statin treatment, with the aim of minimising statin-induced myopathy and increasing adherence to therapy. (plos.org)
  • There is a need for studies comparing the clinical validity of SLCO1B1 rs4149056 genotyping with risk scores for myopathy based on other factors such as racial background, statin type and dose, gender, body mass index, co-medications and co-morbidities. (plos.org)
Manifestation1
  • Yet, the simultaneous knockdown of KAT2B and ADD3 synergistically impaired kidney and heart function in flies as well as the adhesion and migration capacity of cultured human podocytes, indicating that mutations in both genes may be required for the full clinical manifestation. (nih.gov)
Infection1
  • Here we outline the current status of the viral evasion mechanism underlying the regulation of the cGAS-STING pathway, focusing on how post-transcriptional modifications, viral proteins, and non-coding RNAs involve innate immunity during viral infection, attempting to inspire new targets discovery and uncover potential clinical antiviral treatments. (frontiersin.org)
Cardiac1
  • It acts on the smooth muscle and, therefore, raises the resistance posed by these arteries to the heart, and so for the same cardiac output, the blood pressure will rise. (wikipedia.org)
Research3
  • Before starting med school I did clinical research for pharmaceutical companies for 12 years. (blogspot.com)
  • We combine cutting edge personalized healthcare tools with published research literature and the clinical experience of hundreds of practitioners so that you can own your own health. (metabolichealing.com)
  • Medpace Clinical Research India Pvt. (who.int)
Practice1
  • Cutting-edge online training courses & tools to help take your clinical healthcare practice to the next level. (metabolichealing.com)
Defects1
  • Congenital heart defects (CHDs), consisting of heterogeneous anatomy with distinct phenotypic subtypes, are the most common human birth defects worldwide, affecting nearly 0.8% of live births. (biomedcentral.com)
Advances1
  • This document reflects emerging clinical and scientific advances as of the date issued and is subject to change. (acog.org)
Respiratory1
  • Blood pressure was 150/79 mmHg, heart rate 76 beats/min, respiratory rate 24 breaths/min, and oxygen saturation 92% breathing room air. (abdominalkey.com)
Targets1
  • The present review provides potential worth evaluating targets in innate immune response that are viable in clinical trials and antiviral reagents development for current and future studies. (frontiersin.org)
Chemistry1
  • The revolutionary reporting system and premier clinical tool for a precise, automated analysis of blood chemistry from a functional perspective. (metabolichealing.com)
Patient2
  • For excellent patient education resources, visit eMedicineHealth's Heart Health Center and Cholesterol Center. (medscape.com)
  • In this role, Lauren participates in clinical operations, patient care and various communications, education, and strategic initiatives of the program. (cdc.gov)
Risk1
  • Cats that are at risk for developing hypertrophic cardiomyopathy should be examined at least once a year by a veterinarian, preferably a cardiologist as HCM requires an echocardiogram (heart ultrasound) for definitive diagnosis and to understand the severity of the condition for the individual cat. (wisdompanel.com)