Friday, 27 June 2014
coronary calcium scoring
specks of calcium in the walls(alcium deposits ) of the coronary (heart) arteries. These specks of calcium are called calcifications (KAL-sih-fih-KA-shuns).
Chronotropic incompetence (CI),
Chronotropic incompetence (CI), broadly defined as the inability of the
heart to increase its rate commensurate with increased activity or
demand, is common in patients with cardiovascular disease, produces
exercise intolerance which impairs quality-of-life, and is an
independent predictor of major adverse cardiovascular events and overall
mortality.
Monday, 23 June 2014
Chronotropic incompetence
Chronotropic incompetence
The inability to achieve 85% of the maximum predicted heart rate (MPHR)
on dobutamine stress echocardiography (DSE) is defined as chronotropic
incompetence.
TUDORZA™ PRESSAIR™
TUDORZA™ PRESSAIR™
TUDORZA™ PRESSAIR™ is a prescription medicine used long term, 2 times each day to treat symptoms of chronic obstructive pulmonary disease (COPD), including chronic bronchitis and emphysema.
source:
http://www.tudorza.com/
TUDORZA™ PRESSAIR™ is a prescription medicine used long term, 2 times each day to treat symptoms of chronic obstructive pulmonary disease (COPD), including chronic bronchitis and emphysema.
http://www.tudorza.com/How-To-Use-Tudorza-Pressair-Inhaler.aspx
http://www.tudorza.com/instructional-video.aspxsource:
http://www.tudorza.com/
Prothrombin Time and INR
Prothrombin Time and INR
Prothrombin time (PT) is a blood test that measures how long it takes blood to clot. A prothrombin time test can be used to check for bleeding problems.
Specific Genetic Disorders
Specific Genetic Disorders list
- Achondroplasia
- Alpha-1 Antitrypsin Deficiency
- Antiphospholipid Syndrome
- Autism
- Autosomal Dominant Polycystic Kidney Disease
- Breast cancer check
- Charcot-Marie-Tooth
- Colon cancer
- Cri du chat
- Crohn's Disease
- Cystic fibrosis
- Dercum Disease
- Specific Genetic Disorders
- Down Syndrome
- Duane Syndrome
- Duchenne Muscular Dystrophy
- Factor V Leiden Thrombophilia
- Familial Hypercholesterolemia
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Hemochromatosis
- Hemophilia
- Holoprosencephaly
- Huntington's disease
- Klinefelter syndrome
- Marfan syndrome
- Myotonic Dystrophy
- Neurofibromatosis
- Noonan Syndrome
- Osteogenesis imperfecta
- Parkinson's disease
- Phenylketonuria
- Poland Anomaly
- Porphyria
- Progeria
- Prostate Cancer
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency (SCID)
- Sickle cell disease
- Skin Cancer
- Spinal Muscular Atrophy
- Tay-Sachs
- Thalassemia
- Trimethylaminuria
- Turner Syndrome
- Velocardiofacial Syndrome
- WAGR Syndrome
- Wilson Disease
source:
http://www.genome.gov/10001204
Mucolipidoses
Mucolipidoses
The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells
?What are the different types of mucolipidoses?
mucolipidosis I
mucolipidosis II
mucolipidosis III
mucolipidosis IV
?How are the mucolipidoses diagnosed?
Blood test that measures enzyme activity in the patient's white blood cells. Activity levels that are lower than normal indicate specific enzyme deficiencies.
skin biopsy. A small sample of skin is taken from the patient and grown in a cell culture. The activity of a particular enzyme in the cultured skin cells is then measured.
cardiac perfusion scan
Cardiac perfusion scan
Friday, 20 June 2014
What Is Metabolic Syndrome?
What Is Metabolic Syndrome?
Metabolic (met-ah-BOL-ik) syndrome is the name for a group of risk factors that raises your risk for heart disease and other health problems, such as diabetesexternal link icon and stroke.
The term "metabolic" refers to the biochemical processes involved in the body's normal functioning. Risk factors are traits, conditions, or habits that increase your chance of developing a disease.
In this article, "heart disease" refers to coronary heart disease (CHD). CHD is a condition in which a waxy substance called plaque (plak) builds up inside the coronary (heart) arteries.
Plaque hardens and narrows the arteries, reducing blood flow to your heart muscle. This can lead to chest pain, a heart attack, heart damage, or even death.
Metabolic Risk Factors
The five conditions described below are metabolic risk factors. You can have any one of these risk factors by itself, but they tend to occur together. You must have at least three metabolic risk factors to be diagnosed with metabolic syndrome.
A large waistline. This also is called abdominal obesity or "having an apple shape." Excess fat in the stomach area is a greater risk factor for heart disease than excess fat in other parts of the body, such as on the hips.
A high triglyceride level (or you're on medicine to treat high triglycerides). Triglycerides are a type of fat found in the blood.
A low HDL cholesterol level (or you're on medicine to treat low HDL cholesterol). HDL sometimes is called "good" cholesterol. This is because it helps remove cholesterol from your arteries. A low HDL cholesterol level raises your risk for heart disease.
High blood pressure (or you're on medicine to treat high blood pressure). Blood pressure is the force of blood pushing against the walls of your arteries as your heart pumps blood. If this pressure rises and stays high over time, it can damage your heart and lead to plaque buildup.
High fasting blood sugar (or you're on medicine to treat high blood sugar). Mildly high blood sugar may be an early sign of diabetes.
Overview
Your risk for heart disease, diabetes, and stroke increases with the number of metabolic risk factors you have. In general, a person who has metabolic syndrome is twice as likely to develop heart disease and five times as likely to develop diabetes as someone who doesn't have metabolic syndrome.
Other risk factors, besides those described above, also increase your risk for heart disease. For example, a high LDL cholesterol level and smoking are major risk factors for heart disease, but they aren't part of metabolic syndrome.
Having even one risk factor raises your risk for heart disease. You should try to control every risk factor you can to reduce your risk.
The risk of having metabolic syndrome is closely linked to overweight and obesity and a lack of physical activity. Insulin resistanceexternal link icon also may increase your risk for metabolic syndrome.
Insulin resistance is a condition in which the body can't use its insulin properly. Insulin is a hormone that helps move blood sugar into cells where it's used for energy. Insulin resistance can lead to high blood sugar levels, and it's closely linked to overweight and obesity.
Genetics (ethnicity and family history) and older age are other factors that may play a role in causing metabolic syndrome.
Outlook
Metabolic syndrome is becoming more common due to a rise in obesity rates among adults. In the future, metabolic syndrome may overtake smoking as the leading risk factor for heart disease.
It is possible to prevent or delay metabolic syndrome, mainly with lifestyle changes. A healthy lifestyle is a lifelong commitment. Successfully controlling metabolic syndrome requires long-term effort and teamwork with your health care providers.
Source:
http://www.nhlbi.nih.gov/health/health-topics/topics/ms/
Metabolic (met-ah-BOL-ik) syndrome is the name for a group of risk factors that raises your risk for heart disease and other health problems, such as diabetesexternal link icon and stroke.
The term "metabolic" refers to the biochemical processes involved in the body's normal functioning. Risk factors are traits, conditions, or habits that increase your chance of developing a disease.
In this article, "heart disease" refers to coronary heart disease (CHD). CHD is a condition in which a waxy substance called plaque (plak) builds up inside the coronary (heart) arteries.
Plaque hardens and narrows the arteries, reducing blood flow to your heart muscle. This can lead to chest pain, a heart attack, heart damage, or even death.
Metabolic Risk Factors
The five conditions described below are metabolic risk factors. You can have any one of these risk factors by itself, but they tend to occur together. You must have at least three metabolic risk factors to be diagnosed with metabolic syndrome.
A large waistline. This also is called abdominal obesity or "having an apple shape." Excess fat in the stomach area is a greater risk factor for heart disease than excess fat in other parts of the body, such as on the hips.
A high triglyceride level (or you're on medicine to treat high triglycerides). Triglycerides are a type of fat found in the blood.
A low HDL cholesterol level (or you're on medicine to treat low HDL cholesterol). HDL sometimes is called "good" cholesterol. This is because it helps remove cholesterol from your arteries. A low HDL cholesterol level raises your risk for heart disease.
High blood pressure (or you're on medicine to treat high blood pressure). Blood pressure is the force of blood pushing against the walls of your arteries as your heart pumps blood. If this pressure rises and stays high over time, it can damage your heart and lead to plaque buildup.
High fasting blood sugar (or you're on medicine to treat high blood sugar). Mildly high blood sugar may be an early sign of diabetes.
Overview
Your risk for heart disease, diabetes, and stroke increases with the number of metabolic risk factors you have. In general, a person who has metabolic syndrome is twice as likely to develop heart disease and five times as likely to develop diabetes as someone who doesn't have metabolic syndrome.
Other risk factors, besides those described above, also increase your risk for heart disease. For example, a high LDL cholesterol level and smoking are major risk factors for heart disease, but they aren't part of metabolic syndrome.
Having even one risk factor raises your risk for heart disease. You should try to control every risk factor you can to reduce your risk.
The risk of having metabolic syndrome is closely linked to overweight and obesity and a lack of physical activity. Insulin resistanceexternal link icon also may increase your risk for metabolic syndrome.
Insulin resistance is a condition in which the body can't use its insulin properly. Insulin is a hormone that helps move blood sugar into cells where it's used for energy. Insulin resistance can lead to high blood sugar levels, and it's closely linked to overweight and obesity.
Genetics (ethnicity and family history) and older age are other factors that may play a role in causing metabolic syndrome.
Outlook
Metabolic syndrome is becoming more common due to a rise in obesity rates among adults. In the future, metabolic syndrome may overtake smoking as the leading risk factor for heart disease.
It is possible to prevent or delay metabolic syndrome, mainly with lifestyle changes. A healthy lifestyle is a lifelong commitment. Successfully controlling metabolic syndrome requires long-term effort and teamwork with your health care providers.
Source:
http://www.nhlbi.nih.gov/health/health-topics/topics/ms/
BRCA1 and BRCA2: Cancer Risk and Genetic Testing
What are BRCA1 and BRCA2?
BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. When either of these genes is mutated, or altered, such that its protein product is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.
Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers (1) and about 5 to 10 percent of all breast cancers (2). In addition, mutations in BRCA1 and BRCA2 account for around 15 percent of ovarian cancers overall (3). Breast cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than sporadic breast cancers.
A harmful BRCA1 or BRCA2 mutation can be inherited from a person’s mother or father. Each child of a parent who carries a mutation in one of these genes has a 50 percent chance of inheriting the mutation. The effects of mutations in BRCA1 and BRCA2 are seen even when a person’s second copy of the gene is normal.
Source:
http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA
BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. When either of these genes is mutated, or altered, such that its protein product is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.
Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers (1) and about 5 to 10 percent of all breast cancers (2). In addition, mutations in BRCA1 and BRCA2 account for around 15 percent of ovarian cancers overall (3). Breast cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than sporadic breast cancers.
A harmful BRCA1 or BRCA2 mutation can be inherited from a person’s mother or father. Each child of a parent who carries a mutation in one of these genes has a 50 percent chance of inheriting the mutation. The effects of mutations in BRCA1 and BRCA2 are seen even when a person’s second copy of the gene is normal.
Source:
http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA
Wednesday, 4 June 2014
phosphodiesterase type 5 (PDE5)
Phosphodiesterase type 5 (PDE5)
he phosphodiesterase type 5 (PDE5) inhibitors cause vasodilation in the penis and lung by blocking the breakdown of cyclic guanosine monophosphate (cGMP) which results in prolongation of the action of mediators of vasodilation including nitric oxide (NO). The type-5 phosphodiesterases are isoforms of this enzyme that are found primarily in the penis and lung. For these reasons, the two major actions of the PDE5 inhibitors are to prolong penile erection and decrease pulmonary vascular pressure. They have little effects on the systemic vasculature.
Four PDE5 inhibitors are currently approved and in use for treatment of erectile dysfunction including sildenafil (Viagra: 1998), tadalafil (Cialis: 2003), vardenafil (Levitra: 2003) and avanafil (Stendra: 2012), all of which are recommended to be taken orally one-half to 4 hours before sexual intercourse. Typically, no more than once daily use is recommended. The PDE5 inhibitors are not approved for use in women. Sildenafil is approved for use in pulmonary hypertension where two to three times daily chronic dosing is used. Its safety and efficacy are still under experimental evaluation, particularly in patients with end-stage liver disease (hepato-pulmonary syndrome) and in patients with sickle cell anemia with pulmonary hypertension.
Rare single case reports of acute liver injury have been reported with use of PDE5 inhibitors, mostly with sildenafil, as tadalafil, vardenafil and avanafil have been used less widely. The four agents share a similar mechanism of action but have structural differences, and it is not clear whether liver injury is a class effect or specific to sildenafil. Chronic sildenafil use has not been associated with serum aminotransferase elevations.
The following links are to individual drug records. References to hepatotoxicity and safety of the PDE5 inhibitors are given together in this overview section.
- Avanafil
- Sildenafil
- Tadalafil
- Vardenafil
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