Achondroplasia: A Form of Dwarfism

Acondroplasia is a rare genetic disorder characterized by short stature.

Acondroplasia features include disproportionate stature. This basically means that the arms and legs are relatively small when compared to the torso (body). The size disadvantage acondroplasia patients have is more observable in the upper legs and arms (proximal).

Additional signs include a prominent forehead (frontal bone), a prominent jaw, and a flat or depressed region between the eyes. On occasion, there is overcrowding of teeth, and the upper and lower dentition have bad alignment. The disease occurs in all races with equal incidence in women and men. Achondroplasia attacks one in 25,000 to one in 40,000 people.

The lower extremities of a patient with achondroplasia almost always turns bowed, and occasionally the elbow joint can’t be straightened out completely. The arms are short and stumpy and the feet can be small, flat and wide.

Causes of Achondroplasia

A chemical modification within a single gene results in achondroplasia. It does not arise from anything the parents have practiced during or prior to childbirth. Achondroplasia starts from an autosomal dominate condition. What this means is a new chromosomal mutation or genetic alteration began to take place at the time of conception.

The disease may also be communicated from one generation to the next; 9 out of 10 babies born with this illness have average-sized mothers and fathers. If one adult has the disease, there is a fifty percent probability their baby will inherit a copy of the gene. If the mother and father both have the disease there is a twenty-five percent chance the baby will have a dominant gene factor and a seventy-five percent possibility of a single achondroplasia gene. This gene is referred to as FGFR3 (fibroblast growth factor).

Other Illnesses Related to Achondroplasia

Babies with this disease have an inclination towards middle-ear infections. This may occur until 5 or 6 years of life, and it may be owing to abnormal draining from the “pipe” that leads from the middle part of the ear to the throat (pharynx). Respiratory troubles can happen in babies and children, due to constricted nasal openings.

An individual with achondroplasia will have the same life expectancy as an individual without the disease. Hydrocephalus (water in the central nervous system) can also occur in certain instances of achondroplasia.

Kids with achondroplasia may successfully reach motor milestones of growth, but differently and more gradually than youngsters without the disease. For example the baby with achondroplasia might take much longer to sit up than a baby who does not have the disease – but there could always be exceptions.

Dengue Fever is Not Confined to Africa: There is More to This Disease than Meets the Eye

Dengue fever is spreading at alarming rates, and humanitarian and health organizations from around the world are struggling to help keep it at bay.

The World Health Organization estimates that two fifths of the world population, 2.5 billion people, are at risk from dengue fever. The little known disease is currently epidemic in over 100 countries with 50 to 100 million cases estimated per year. The aedes aegypti mosquito, responsible for its spread and originally found in Africa, populates the tropics globally today.

White markings on legs and a lyre shaped marking on the center underbelly distinguishes the insect that causes dengue fever from other mosquitoes.

How does One Contract Dengue Fever?

Dengue fever, aka breakbone fever, is caused by one of four viruses spread by an aedes mosquito bite. The majority of cases occur in urban tropical and subtropical areas but cases are being reported more often in the United States. Hawaii, Texas, and states bordering the Gulf of Mexico have reported cases recently. Area maps showing infected areas can be found on the Center for Disease Control website.

Although extremely uncomfortable the initial symptoms of Dengue fever will pass within 14 days. High fever, headache, rash and body wide muscle and joint pain begin to be experienced within four to seven days of being bitten. Nausea and vomiting may or may not be present. There is no treatment for dengue fever beyond re-hydrating and rest. Blood tests to confirm its presence and liver function evaluations are sometimes ordered.

Getting Infected with Dengue Fever

Since there are four strains, a person can be infected multiple times. Due to the damage done to the liver and blood vessels, subsequent instances can result in life threatening conditions.

The more severe form of dengue fever is Dengue hemorrhagic fever. The symptoms are the same as those of the more mild form at first, but become worse after the first few days. Damage to lymph and blood vessels as well as a decrease in platelets is common in dengue hemorrhagic fever and hospitalization is needed to prevent Dengue shock syndrome.

The sudden drop in blood pressure is the life threatening quality of Dengue shock syndrome. Blood vessel leakage and heavy bleeding may be accompanied by piercing abdominal pain, repeated vomiting and disorientation. These symptoms appear after the fever has receded between the third and seventh day. If proper diagnosis and treatment is not received within 12 hours, death may occur.

Prevention primarily centers on avoiding mosquito bites. Wearing an insect repellent that contains at least a 10% concentration of DEET is best. Sunrise, sunset and early evenings are the prime feeding times for the aedes aegypti mosquito that spreads dengue fever.

The Symptoms and Treatment of Valley Fever: A Serious Fungal Infection with Common Symptoms

Valley Fever often goes undiagnosed because of the common cold symptoms it produces. If left untreated death can occur.

In the dry deserts of the world an often undiagnosed medical condition spreads through the wind infecting a wide range of unsuspecting people. This disease that can travel with the wind is called Valley Fever. This disease is caused by a fungus that lives in the soil. This fungus can thrive in warm, dry environments like the deserts of Mexico and Arizona. The fungal infection is spread into the air when the soil is disturbed like in a dust storm. Because of this, people with digging jobs and contractors are often diagnosed with this condition. Once the fungus is in the air it is inhaled into the lungs resulting in Valley Fever.

The Risks

Although Valley Fever can affect anyone, many factors can increase a person’s risk for becoming infected with this disease. People with weak immune systems are likely to be infected, especially those that suffer from HIV/AIDS. Pregnant women and diabetics have an increased risk to Valley Fever.

Ethnicity has shown to increase a person’s risk for Valley Fever. Native Americans, Mexican Americans, and African Americans have shown to have a higher chance of getting Valley Fever than others. Filipinos are also known to frequently have this infection.

Environmental factors can increase a person’s risk for Valley Fever as well. The hot deserts, like those in the Southwestern United States, have high reports of this infection. Windy environments can increase a person’s risk. Construction workers, farmers, and other outside labor jobs increase the risk of contracting this disease.

The Symptoms

Valley Fever often goes undiagnosed because the symptoms associated with it are so common to colds and flu. Although Valley Fever has cold-like symptoms it is not contagious from person to person. Symptoms usually occur after the incubation period which lasts about one to three weeks. The symptoms of this disease are fevers, dry coughs, and chest pains. A person with this disease can also experience joint pain, fatigue, and headaches. Rarely, a rash or red bumps will be visible on the body. Because these symptoms are so similar to other illnesses Valley Fever often goes undiagnosed and untreated. It is then able to spread to other areas of the body.

Treatment

If Valley Fever is left untreated it can begin to infect other areas of the body. It can spread to the lymph nodes, other organs, bones, and skin. If it is left untreated for a prolonged period of time, the coverings of the brain and spinal cord can become infected.

Valley Fever can easily be diagnosed by a doctor. The doctor will ask a series of questions involving recent travel, environment conditions, and work history. Chest x-rays are used to diagnose this condition as well as blood tests. Anti-fungal medications are used to kill the infection. Frequent check ups and testing are needed to check to make sure the infection doesn’t reoccur.

What is Nitroglycerin: About Drugs Used To Treat Chest Pain Also Known As Angina

Nitroglycerin is classified therapeutically as an antianginal medication and pharmacologically as a nitrate. It is used to treat sudden episodes of angina and to prevent the occurrence of future episodes. Some other medications in this class are:

  • nitrostat
  • nitroQuick
  • deponit
  • nitrek
  • nitrong

How Nitroglycerin Works

Angina is caused by a lack of oxygenated blood flow to an area of the heart. A person experiencing angina may feel painful pressure or a squeezing sensation in their chest area. This pain may radiate to a person’s shoulders, jaws, back, neck or arms. Nitroglycerin increases blood flow to the heart by making the blood vessels that deliver oxygenated blood to the heart bigger. This process is called vasodilation. It relaxes the blood vessels in the body and decreases chest pain. Vasodilation of blood vessels that deliver blood to the rest of the body reduces the amount of work the heart has to perform, thereby reducing the oxygen needs of the heart. Nitroglycerin is available as a spray, tablets, capsules, extended release tablets.

Side Effects Of Nitroglycerin

Some side effects of this drug that should be reported to a healthcare provider if they become severe are as follows:

  • headaches
  • dizziness
  • flushing
  • lightheadedness

Adverse Effects Of Nitroglycerin

Side effects with potentially serious effects are called adverse effects and need to be reported to a healthcare provider immediately. The adverse effects of nitroglycerin are:

  • nausea
  • vomitting
  • weakness
  • blurred vision
  • fainting spell
  • abdominal pain
  • sweating
  • chest pain
  • pale skin
  • rashes
  • peeling of the skin
  • blisters on the skin
  • hives
  • itching
  • difficulty breathing

Precautions

A person taking nitroglycerin should always take the following precautions:

  1. Get up slowly from a sitting or standing position to prevent falls due to dizziness or light headedness.
  2. Take the medication as prescribed if when feeling better.
  3. Avoid drinking alcohol while taking this medication and speak to a doctor before taking any over the counter drug.
  4. Be aware that headaches are a common side effect of this medication and should stop after a while.
  5. Notify a doctor of the headaches become unbearable or persistent.
  6. Take the medication at the first sign of angina. If the pain is not relieved in five minutes, another tablet can be taken. A maximum of three tablets should be taken at five minute intervals.
  7. Notify a healthcare provider or go to the emergency room if the pain is not relieved after taking three tablets.
  8. Store the medication in the container it came in to prevent loss of potency.
  9. Replace the medication every six months.

Be aware of symptoms of nitroglycerin overdose and contact emergency services if they happen.

Cholesterol Levels and Heart Attack Risk: Treatment to Achieve Specific Numbers May Not Be Justified

According to a report in BusinessWeek,half of all heart attacks and newly-diagnosed cases of cardiovascular disease occur in people with normal or even low levels of LDL (the “bad” cholesterol).

Recent studies suggest that statins – drugs that are used to lower cholesterol – seem to benefit some people whose cholesterol levels are already low, but who exhibit signs of inflammation within their blood vessels. (1)

These findings imply that some other mechanism besides cholesterol – one that might be addressed through lifestyle changes or some other non-statin means – plays a significant role in the generation of coronary artery disease.

The National Cholesterol Education Program, the Framingham Heart Study, and Faulty Cholesterol Guidelines

For doctors who have tried to follow the recommendations of influential bodies like the National Cholesterol Education Program (NCEP) and whose practice protocols are based on data from the Framingham Heart Study (arguably the longest, most comprehensive, and most respected analysis of heart disease in the world) the news of cholesterol’s demotion must be sobering.

It is understandable that the Framingham Study is the yardstick for measuring a given individual’s risk for developing cardiovascular disease; after all, this longitudinal trial has been generating valuable information since 1948.

Unfortunately, despite the statistical power of the Framingham Study, it remains, in fact, a conglomeration of numbers – susceptible to mathematical manipulation and open to disparate interpretation.

For example, Framingham’s outcomes form the basis for the “treat-to-target” rationale used by most physicians to prevent heart disease in their patients. This concept, which is practically the standard of care in the United States, mandates the reduction of LDL cholesterol levels (almost always through the aggressive use of statin drugs) to below 70 mg/dL for people who are at high risk for coronary artery disease, and to less than 130 mg/dL for people who are not at high risk.

Such a reduction in LDL cholesterol usually parallels a reduction in total cholesterol, often to less than 160 mg/dL. Oddly enough, many medical experts, including John Abramson, MD, a Robert Woods Johnson Fellow, medical statistician, faculty member at Harvard Medical School, and author of Overdosed America, the Broken Promise of American Medicine, believe that lowering total cholesterol to such levels actually increases the risk of death from causes other than heart disease for both men and women after they reach the age of 50. (2)

Allan Spreen, MD, a panelist for the Health Sciences Institute, contends that Framingham data show that when total cholesterol levels fall below 160 mg/dL, the incidence of heart disease once again increases, indicating that the benefits from cholesterol reduction bottom out around that point.

Furthermore (and somewhat chillingly), the recommendations of the Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults – whose guidelines are incorporated into the NCEP – were promulgated by a group of individuals whose decisions may have been influenced by their relationships with statin-manufacturing pharmaceutical firms: Five of the 14 panel members who wrote the guidelines – including the panel chair – disclosed financial ties to these companies. (2)

Thus, it is possible that cholesterol guidelines disseminated to American physicians and their patients have been more intent on promoting greater statin use than on presenting a balanced interpretation of the science that surrounds heart disease.

Finally, to further reinforce the notion that doctors must rethink the cholesterol issue, a new study from Annals of Internal Medicine supports what some experts now believe is the best approach to preventing coronary artery disease.

In this trial, Dr. Rodney Hayward and his associates demonstrated that a “tailored” approach, where fixed doses of statin medications are administered based on an estimate of a patient’s net benefit, is far superior to simply increasing a patient’s statin doses to achieve a targeted cholesterol level. In fact, the research team could find no circumstances under which “treat-to-target” therapy was preferable to a tailored approach. (3)

Alas, it seems that addressing the modifiable risk factors for heart disease (smoking, obesity, sedentary lifestyles, poor diet, etc.) may once more become vogue; the days of simply pouring statins into a patient to reach an arbitrary and hitherto magical cholesterol level may be numbered.

About Amlodipine: The Action, Side Effects, Adverse Effects Of Amlodipine or Norvasc

Amlodipine is classified as an antihypertensive drug and more specifically a calcium channel blocker. It is used to treat hypertension and chest pain also known as angina. They are used to manage irregular heart beats or arrhythmias as well. Other medications in this class include the following:

  • diltiazem
  • verapamil
  • felodipine
  • nifedipine
  • isradipine

How Amlodipine Works

Calcium is needed by the body for muscle contraction. The heart is a muscle that is constantly contracting to pump blood through out the body. Calcium channel blockers like amlodipine work by blocking the flow of calcium into the muscles of the heart and smooth muscles of blood vessels. The blood vessels relax and become wider plus the pumping action of the heart is reduced. The effect of this is an increase in blood supply to the heart, leading to reduced chest pain, a decrease in how fast the heart pumps and a decrease in blood pressure.

Side effects of Amlodipine

Besides the therapeutic effect of this medication, there are other side effects that may occur and they are:

  • dizziness
  • sleeping problems
  • drowsiness
  • tiredness
  • swelling of the hands and legs
  • headaches
  • dry mouth
  • nausea, vomiting, heartburn
  • constipation, diarrhea
  • stomach cramps
  • gum enlargement
  • flushing

Serious side effects that need to be reported to a doctor immediately are adverse effects. These type of side effects for amlodipine are:

  • chest pain that occurs more frequently
  • irregular heart beats
  • slow heart beats
  • severe dizziness

Before Taking Amlodipine

It’s important to what medications to avoid when takin amlodipine and some are as follows:

  • Be aware that it can lower blood pressure if taken with other antihypertensives, fentanyl, nitrates, quinidine or alcohol.
  • Know that its antihypertensive effects may be reduced by medications like ibuprofen.
  • Consider the fact that it reacts with lithium to cause toxicity in the nervous system.

Precautions

Doing the following may increase the effectiveness of amlodipine and help prevent some side effects.

  • Learn how to check pulses and blood pressure. Take blood pressure reading weekly and report any unusual values to a healthcare provider.
  • Take the medication as prescribed even well feeling well.
  • Get up from a sitting or standing position slowly to prevent falls due to dizziness.
  • Do not drive or do anything that requires alertness until the drug effects are determined because the medication may cause drowsiness.
  • Maintain good dental hygiene and keep all dental appointments to reduce the occurrence of gum enlargement.
  • Consult a health care provider before using any over the counter medication like ibuprofen.
  • Report severe headaches, bothersome side effects and adverse effects to a physician immediately.

Its important to take amlodipine as prescribed and to discuss all other medication being taken with a physician before starting on this medication.

Lung Diseases – Restrictive vs Obstructive Types: How are COPD and IPF Different from Each Other?

COPD is Chronic Obstructive Pulmonary Disease. IPF is Idiopathic Pulmonary Fibrosis. Nearly 30 million Americans suffer from one of these major lung diseases.

Respiratory diseases count for about one in seven deaths every year. Interstitial lung disease affects five million people in the world annually; other major lung diseases include cystic fibrosis, tuberculosis, mesothelioma, sarcoidosis, and pulmonary hypertension.

What is a Lung Disease?

Any disorder that affects one’s ability to breathe, including lung cancer, which results in a nagging cough, shortness of breath, pain in the chest and a decrease in one’s ability to perform any significant exertion, is a lung disease.

Definitions of Restrictive and Obstructive Lung Disorders

When the airways of the lungs become narrow or are blocked so that one cannot exhale completely, the disorder is defined as “obstructive.” Chronic Obstructive Pulmonary Disease (COPD), which includes chronic bronchitis and emphysema, and asthma are considered obstructive lung diseases. Generally these are caused by inflammation in the airways.

When the lungs have lost tissue or the cells stiffen due to invasive environmental factors, the lungs lose their ability to expand on inhalation. They are restricted, and the term “restrictive” is applied to the disease. Lung cancer is a restrictive lung disease as are pulmonary fibrosis (PF) and pneumonia. This eventually impairs the body’s ability to transfer oxygen into the bloodstream.

“Interstitial” refers to any restrictive disease of the air sacs around the lung cells. Interstitial Lung Disease (ILD) was a synonym for IPF but now is used as an umbrella term which includes IPF.

Thus, an obstructive lung disease prevents proper exhalation, and a restrictive lung disease prohibits proper inhalation. Someone with obstructive lung disease can take a full deep breath, but cannot exhale it completely (risking the retention of carbon dioxide in the bloodstream and further inflammation of the airways). A person with restrictive lung disease cannot take a deep breath but has no difficulty exhaling all that he does inhale. As his disease progresses, the lung tissue stiffens in greater amounts and the capacity to hold oxygen in the lungs diminishes steadily. Less and less oxygen is supplied to the body’s organs.

Differences Between Two Types of Lung Disease

COPD is characterized by heavy mucus production and a constant loose cough. Effective treatments include prescribed inhalants using handheld inhalers, nebulizers or other forced-air equipment. As the disease progresses, supplemental oxygen may be used to assist the active patient. There is no cure for these diseases; current treatments can enable the patient to continue a fairly active lifestyle for a number of years.

Pulmonary Fibrosis (referred to as IPF if it is “idiopathic,” or has no known cause) does not produce mucus, nor is it helped by inhalants to clear obstructed airways. Many patients experience a dry cough which becomes extremely debilitating. Other symptoms include increasing demands for supplemental oxygen and a decline in ability to perform daily living tasks. Lung capacity diminishes to as little as 11% of normal, and oxygen requirements can exceed 12 liters per minute (unlike COPD oxygen requirements which seldom exceed 2 liters per minute in most patients.)

A standard of treatment used to be giving the patient high doses of prednisone (a steroid) to halt further progression of scarring thought to be caused by an inflammation. However, prednisone treatment is successful in a smaller percentage of patients than previously thought, and its side effects are so damaging to the body that many health professionals feel prednisone is no longer the preferred choice of treatment. Drug trials have been conducted for many years to find a more successful treatment for IPF, including pirfenidone, which is currently awaiting FDA approval following a series of favorable trials. At present, however, there are no known drugs that successfully treat IPF and the only “cure” available is lung transplant. Progression of the disease is usually more rapid than with COPD.

Differencesmay be Confusing

Since the greater number of lung disease cases tend to be obstructive, such as asthma and COPD, many healthcare professionals are ill-prepared to treat restrictive diseases such as IPF. There is a tendency, unfortunately, to assume that those treatments that succeed with COPD will also work for IPF. Consequently, IPF patients are often taught “pursed-lip exhalation” in which one forces the exhaled breath out between tightly pursed lips. This is a useless strategy for anyone who has no difficulty exhaling but can’t inhale sufficiently.

Other misguided treatments include prohibiting IPF patients from having greater amounts of supplemental oxygen than 2 lpm, because “the patient might become dependent on it” or “it will damage the lungs.” COPD patients do have issues with high-flow supplemental oxygen, but patients with restrictive lung diseases need all the oxygen they can get. Loss of oxygen to the brain, to the extremities, and to other vital organs can seriously affect quality of life and will hasten death.

Preventing Lung Disease

The most obvious preventive strategy is never to smoke. Quitting is the number one health measure to prevent lung disease. Other measures include maintaining a healthy diet, keeping active with cardiopulmonary exercise, and avoiding exposure to such environmental triggers as asbestos, second-hand smoke, and air pollution. Some lung disorders are inherited, so be aware of family history and prepare accordingly to keep one’s lungs as healthy as possible.

If anyone begins to experience symptoms such as unexplained fatigue, shortness of breath on exertion, or a persistent nagging cough, he or she should see his physician as soon as possible. Treatment at the earliest stages of lung disease will prolong life and extend one’s quality of life immeasurably.