Dec 26, 2017 · 16. Which of the following disorders is associated with genetic cardiovascular disease? answer-d. All of the above . explanation-Hypertrophic cardiomyopathy is generally inherited. There's 50 % chance that children of a parent with hypertrophic cardiomyopathy will inherit genetic mutation for the disease
Mar 05, 2015 · View Test Prep - HLTH 1000 exam 2 from HLTH 1000 at Ohio University, Main Campus. Question 1 2 out of 2 points Which of the following statements about cardiovascular disease is not true: Selected
Jan 26, 2015 · Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy). People with these conditions can present at any age with almost any affected body system; however, the brain, muscles, heart, liver, nerves, eyes, ears and kidneys are the organs and …
Genetic disease or genetic predisposition to disease is present in gametes before conception; therefore, theoretically it can be detected from that point on. If the capability exists for identifying a specific mutation, one can do so in gametes, in the zygote immediately after conception, in the early embryo, prenatally throughout pregnancy, in the newborn period, in childhood or …
Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance. [1] [3] Only egg cells (not sperm cells) contribute mitochondria to the next generation, so only females can pass on mitochondrial mutations to their children. Conditions resulting from mutations in mitochondrial DNA can appear in every generation ...
However, mitochondria (the structures in each cell that produce energy) contain a small amount of their own DNA, which is known as mitochondrial DNA. [1] [2] When the mitochondria are not working properly, the body does not have enough energy to carry out its normal functions. This can lead to the variety of health problems associated ...
The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Mitochondrial genetic disorders. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.
The inheritance is X-linked dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Women with an X-linked dominant condition have a 50% chance of passing the condition on to a son or a daughter with each pregnancy.
People with mitochondrial genetic disorders can present at any age with almost any affected body system. While some conditions may only affect a single organ, many involve multiple organ systems including the brain, muscles, heart, liver, nerves, eyes, ears and/or kidneys. Symptom severity can also vary widely.
Genetic counselingrefers to the communication process by which information about the nature, recurrence risk, burden, and reproductive options of a genetic condition, as well as empathic counseling and support concerning the implications of such genetic information, is provided to individuals and their family members.
Mutations in mitochondrial genes can be detected by molecular techniques and have been positively associated with certain types of blindness (Leber optic atrophy), muscle diseases, a type of epilepsy, and dementias associated with aging. Another type of inheritance is known as allelic expansion.
Studies of an individual's chromosomes, or cytogenetics, provide information about the person's gender and about certain diseases that are directly related to abnormal numbers or configurations of the 23 pairs of chromosomes found in humans (e.g., Down syndrome, fragile X syndrome).
Each individual has two sex chromosomes in the normal condition; males have an X and a Y chromosome, females have two X chromosomes. Theoretically, altered genes can occur on either the X or the Y chromosome, but the Y chromosome carries few genes.
The second approach—linkage analysis—is used in cases where the gene has been localized to a region of a chromosome, but the gene has not been cloned; tracking the inheritance of linked DNA markers provides a means of predictive testing.
There is now some evidence that hypertension among African-Americans is less likely to respond to certain classes of drugs (beta-blockers) than hypertension among Caucasians, suggesting genetic heterogeneity in the mechanism of hypertension in these populations.
PKU is an inborn error of metabolism characterized by a deficiency in the enzyme phenylalanine hydroxylase that results in high phenylalanine levels, which if not diagnosed and corrected early in life can lead to severe, progressive mental retardation. PKU occurs in about 1 in 10,000 Caucasian births.
Obesity, abdominal obesity (high waisthip ratio), physical inactivity, low socioeconomic position, and a family history of premature cardiovascular disease (cardiovascular disease in a rst-degree relative before the age of 55 years for men and 65 years for women) can all modify cardiovascular risk.
Of an estimated 58 million deaths globally from all causes in 2005, cardiovascular disease (CVD) accounted for 30%. This proportion is equal to that due to infectious diseases, nutritional de ciencies, and maternal and perinatal conditions combined (1).
Use of risk prediction charts to estimate total cardiovascular risk is a major advance on the older practice of identifying and treating individual risk factors, such as raised blood pressure (hypertension) and raised blood cholesterol (hypercholesterolemia). Since there is a continuous relationship between these risk factors and cardiovascular risk the concept of hypertension and hyperlipidemia introduces an arbitrary dichotomy.
Cardiovascular disease is a major cause of disability and premature death throughout the world, and contributes substantially to the escalating costs of health care. The underlying pathology is atherosclerosis, which develops over many years and is usually advanced by the time symptoms occur, generally in middle age. Acute coronary and cerebrovascular events frequently occur suddenly, and are often fatal before medical care can be given. Modifi cation of risk factors has been shown to reduce mortality and morbidity in people with diagnosed or undiagnosed cardiovascular disease.
Many randomized controlled trials have been conducted since 1967 to compare the effects of diuretics, beta-blockers, and calcium-channel blockers (CCBs) with placebo in hypertensive patients (264, 286, 287). These trials have demonstrated reductions in both cardiovascular mortality and morbidity with all three drug classes.
Dietary intake of trans-fatty acids increases L DL-cholesterol and, at high intakes, lowers HDL cholesterol (143145, 149151). Metabolic and epidemiological studies have indicated that trans-fatty acids increase the risk of coronary heart disease (145, 152, 153).
36Prevention of cardiovascular disease In summary, a sedentary lifestyle is associated with increased risk of cardiovascular disease. Moreover, physical activity is associated with reduced risk of coronary heart disease and CVD mortality, in both men and women, and in middle-aged and older individuals.
Chronic diseases also may have known, modifiable risks factors such as diet, smoking, chronic stress, exposure to environmental toxins, or a variety of other factors. Often, disease results from complex and poorly understood interactions among multiple genetic, environmental, and behavioral risk factors. NIH supports research to identify all types of risk factors for chronic diseases and to develop new strategies to modify risk to prevent disease.
Basic research supported by NIH provides the foundation for understanding and addressing chronic diseases. Understanding fundamental biological mechanisms at the molecular, cellular, tissue, and organ levels provides the basis for formulating new theories of disease causation, identification of novel treatment targets, and development of innovative strategies for disease prevention, diagnosis, or treatment. For example, NIH has made advances in understanding the mechanisms of chronic periodontitis, a disease that leads to tooth loss and affects 80 percent of the U.S. adult population. NIH-supported scientists have discovered that patients with chronic periodontitis have elevated levels of SHIP, a protein that impairs their ability to mount a robust immune attack on bacteria associated with the disease. In another study, NIH-supported scientists identified two pathways associated with chronic periodontitis in diabetic patients who experience increased incidence and severity of this disease. Although studied in different contexts, each of these advances paves the way for potential new targets for preventing or treating this highly prevalent disease. In another effort to increase understanding of the mechanisms of a chronic disease, NIH has initiated a Specialized Center of Clinical Research focused on understanding the key structural and regulatory processes mediating mucus clearance and their dysfunction in cystic fibrosis and COPD. The concepts emerging from the center are expected to stimulate development of new therapies to enable treatment early in the course of disease.
Because of the impact such diseases have on public health and the national economy, NIH directs significant resources toward the study of common chronic diseases , such as asthma, heart disease, diabetes, and many others. However, NIH also support research on many less common chronic conditions.
Lung Diseases:Chronic obstructive pulmonary disease, the fourth leading cause of death in the United States,60causes airflow obstruction in the lungs that makes breathing difficult.Asthma, the most common chronic disease of childhood, is characterized by inflamed or swollen airways.
A chronic disease is one that lasts 3 months or longer. In general, chronic diseases cannot currently be prevented by vaccine or cured by medication, nor do they resolve on their own. Not all chronic diseases are fatal, and not all fatal conditions are chronic.
A common measure of overweight and obesity in adults is body mass index (BMI) a calculation based on height and weight.
In fact, the burden of chronic diseases is rapidly increasing worldwide. In 2005, chronic diseases contributed approximately 60 percent of the 58 million total reported deaths in the world and almost three-quarters of the burden of disease (measured in disability-adjusted life-years) in those age 30 or older.
The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.
Classic galactosemia (type 1) - the most common and severe type, caused by mutations in the GALT gene, and characterized by a complete deficiency of an enzyme called galactose-1-phosphate uridyl transferase (GALT). Early signs and symptoms include liver dysfunction, susceptibility to infections, failure to thrive, and cataracts.
A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Galactosemia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Galactose is present in many foods, including all dairy products (milk and anything made from milk), many baby formulas, and some fruits and vegetables. [1] [2] The impaired ability to process galactose can be due to the deficiency of any of 3 enzymes, caused by mutations in different genes. [3] . There are 3 main types ...
Early signs and symptoms include liver dysfunction, susceptibility to infections, failure to thrive, and cataracts. These can usually be prevented or improved by early diagnosis and treatment, but other progressive or long-term problems are common despite treatment.
People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources.
Type 2 diabetes is the more common form of the disease, affecting 90–95% of diabetics, and is characterised by a loss of ability to respond to insulin (i.e. there is insulin resistance, also termed as insulin insensitivity).
Symptoms include frequent urination due to the osmotic effect of excess glucose in the urine, thirst due to loss of fluids and weight loss.
Diabetes is a major health problem with an estimated 425 million people affected worldwide, and these numbers are predicted to rise. The rise in numbers is associated with an increase in obesity in the population and treating the complications is a major healthcare cost.
Food is necessary to provide the body with energy and key biomolecules that are essential for normal body function. Disease may be associated with an excess intake of energy-rich foods, undernourishment or malnutrition. The components of food that are digested and absorbed by the body can be divided into macronutrients (carbohydrates, fats and proteins) that provide energy and micronutrients (vitamins and minerals) which do not provide energy, but are required in small amounts. An overview of biochemical aspects of nutrition is provided here, together with a focus on selected current issues and areas of interest.
Many of the longer term complications of diabetes involve effects on both large arteries (macrovascular) and small arteries and capillaries (microvascular). High blood glucose leads to proteins and lipids becoming modified in a non-enzymatic process by exposure to sugars, forming advanced glycation end products that have been implicated in the disease process. Oxidative stress and damage to the vascular endothelium lining blood vessels is also involved. One of the diagnostic tests for diabetes involves measuring levels of glycated haemoglobin (HbA 1c) from red blood cells. This is a valuable test because it gives an assessment of the average plasma glucose concentration over months, because of the 120 days lifespan of a red blood cell, and it also gives an indication of how effective treatment has been.
For treatment of Type 1 diabetes, insulin is essential. Human insulin is now produced by recombinant DNA technology, rather than via extraction from the pancreases of animals. Diet and exercise are key to treatment of Type 2 diabetes and this can be combined with drug treatment.
While high LDL cholesterol, which makes up approximately 70% of total cholesterol, is associated with disease, HDL cholesterol levels are inversely correlated with disease. One of the earliest population studies, started more than 50 years ago, revealed that plasma cholesterol and deaths from coronary heart disease were substantially lower in southern Europe and Japan, while rates in North America and northern Europe were higher. The differences were strongly associated with levels of saturated fat consumption and have led to recognition of the healthy Mediterranean diet.
Patient A was a woman, 88 years of age, who lived in an assisted living retirement home. She had been a widow for 20 years, after losing her husband to long-term complications associated with diabetes. Until approximately seven years ago, Patient A had been in relatively good health with no major health problems, but she suffered a mild stroke at 81 years of age. At that time, she decided to quit her 50- to 60-year smoking habit. Other than her smoking history, she did not have any other significant cardiovascular risk factors.
In other words, risk factors work together in increasing an individual's risk of developing coronary heart disease. Cigarette smoking and diabetes are both powerful independent risk factors for heart disease, and together, they significantly elevate the chances of developing the disease.
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Medical Management: A possible complication or adverse effect associated with medical management focuses on the dosage of cardiac medications used to treat women with heart disease. Women may have a different vasomotor tone compared to men and, thus, may require less nitrates.
Patient V is a woman, 47 years of age, who has a family history of heart disease. Although she denies ever experiencing cardiac symptoms, her brother suffered a nonfatal MI at 46 years of age and her father had an MI at 53 years of age. Both of these cardiac events were medically managed.
Patient counseling recommendations for Patient F are twofold: continued control of her hypertension and stress management. Patient F and all of the women should be applauded regarding the positive habits they have incorporated into their lifestyle. In this patient's case, these positive aspects include attention to nutrition, aerobic exercise, and staying away from smoking or alcohol use. She does, however, need assistance with stress management. While her regular exercise program is most likely one avenue for her to deal with this stress, it obviously is not singly effective. In other words, additional stress management strategies could be added to her repertoire.
Patient H, a white woman 60 years of age, suddenly began complaining of chest pain to her family one evening. The pain was substernal, spread down both arms bilaterally, and radiated to her neck and jaw region. Patient H also complained of shortness of breath, nausea, and diaphoresis. Never having witnessed these symptoms before, Patient H's husband and daughter transported her to the local emergency room.