QUOTE FOR MONDAY:

“Screening for CF is part of newborn screening in every state in the U.S. A positive newborn screening is not a diagnosis of CF. But it does mean more testing is done.

The first test done to try to diagnose CF is a sweat chloride test. This measures the amount of salt in your child’s sweat.

Testing for the CF gene can be done from a small blood sample. Or it can be done from a cheek swab. For this, a brush is rubbed against the inside of your cheek. This is done to get cells for testing. Labs generally test for the 20 or so most common mutations.

Not all of the genetic errors that cause CF have been found.”

Stanford Children’s Health/Lucile Packard Children’s Hospital Stanford

 

Part II Cystic Fibrosis Awareness Month

 

 

Short review of what is cystic fibrosis?

Cystic fibrosis (CF) is a genetic disease. This means that CF is inherited.

Mutations in a gene called the CFTR (cystic fibrosis conductance transmembrane regulator) gene cause CF. The CFTR mutations causes changes in the body’s cell’s electrolyte transport system. Electrolytes are substances in blood that are critical to cell function. The main result of these transport system changes are seen in the body secretions, such as mucus and sweat.

The CFTR gene is quite large and complex. There are many different mutations in this gene that have been linked to CF.

A person will be born with CF only if 2 CF genes are inherited–one from the mother and one from the father.  An individual must inherit two non-functioning CF genes – one from each parent – to have CF. If both parents are carriers there is a 1 in 4 (25 percent) chance that both will pass on the non-functioning gene, which would result in a pregnancy affected with cystic fibrosis.

A person who has only one CF gene is called a CF carrier. They are healthy and don’t have the disease. But they are a carrier of the disease.

CF affects various organ systems in children and young adults, including the following:

  • Respiratory system
  • Digestive system
  • Reproductive system

How does CF affect the respiratory system?

The abnormal electrolyte transport system in CF causes the cells in the respiratory system, especially the lungs, to absorb too much sodium and water. This causes the normal thin secretions in the lungs to become very thick and hard to move. These thick secretions increase the risk for frequent respiratory infections.

Recurrent respiratory infections lead to progressive damage in the lungs, and eventually death of the cells in the lungs.

Because of the high rate of infection in the lower respiratory tract, people with CF may develop a chronic cough, blood in the sputum, and often even have a collapsed lung. The cough is usually worse in the morning or after activity.

People with CF also have upper respiratory tract symptoms. Some have nasal polyps that need surgical removal. Nasal polyps are small protrusions of tissue from the lining of the nose that can block and irritate the nasal cavity. People with CF also have higher rates of sinus infections.

How does CF affect the gastrointestinal (GI) system?

CF mainly affects the pancreas. The pancreas secretes substances that aid digestion and help control blood sugar levels.

The secretions from the pancreas also become thick and can clog the ducts of the pancreas. This may cause a decrease in the secretion of enzymes from the pancreas that normally help digest food. A person with CF has trouble absorbing proteins, fats, and vitamins A, D, E, and K.

The problems with the pancreas can become so severe that some of the cells in the pancreas die. Over time, this may lead to glucose intolerance and Cystic Fibrosis-Related Diabetes (CFRD), a unique type of insulin-dependent diabetes.

The symptoms of CF that may be due to involvement with the GI tract include:

  • Bulky, greasy stools
  • Rectal prolapse (a condition in which the lower end of the bowel comes out of the anus)
  • Delayed puberty
  • Fat in the stools
  • Stomach pain
  • Bloody diarrhea

The liver may also be affected. A small number of people may develop liver disease. Symptoms of liver disease include:

  • Enlarged liver
  • Swollen belly
  • Yellow color to the skin (jaundice)
  • Vomiting of blood

How does CF affect the reproductive system?

Most males with CF have blockage of the sperm canal. This is called congenital bilateral absence of the vas deferens (CBAVD). This results from the thick secretions clogging the vas deferens and keeping them from developing properly. It causes infertility because sperm can’t travel out of the body. There are some newer techniques that allow men with cystic fibrosis to have children. These should be discussed with your healthcare provider. Women also have an increase in thick cervical mucus that may lead to a decrease in fertility, although many women with CF are able to have children.

Who is at risk for cystic fibrosis?

Cystic fibrosis (CF) is inherited, and a person with CF had both parents pass the altered gene to them. The birth of a child with CF is often a total surprise to a family, since most of the time there is no family history of CF.

Symptoms can include with above symptoms the following:

All U.S. states require that newborns be tested for cystic fibrosis (CF). This means that parents can know if their baby has the disease and can take precautions and watch for early signs of problems.

The following are the most common symptoms of CF. However, people may experience symptoms differently, and the severity of symptoms can vary, too. Symptoms may include:

  • Thick mucus that clogs certain organs, such as the lungs, pancreas, and intestines. This may cause malnutrition, poor growth, frequent respiratory infections, breathing problems, and chronic lung disease.

Many other medical problems can point to cystic fibrosis, as well. These include:

Sinusitis, Nasal polyps, Clubbing of fingers and toes. This means thickened fingertips and toes because of less oxygen in the blood, Collapse of the lung often due to intense coughing, Coughing up blood, Enlargement of the right side of the heart due to increased pressure in the lungs (Cor pulmonale), Abdominal pain, Excess gas in the intestines, Rectal prolapse. In this condition, the lower end of the bowel comes out of the anus, Liver disease, Diabetes, Pancreatitis, or inflammation of the pancreas that causes severe pain in the belly, Gallstones, Congenital bilateral absence of the vas deferens (CBAVD) in males. This causes blockages of the sperm canal.

The symptoms of CF differ for each person.

Infants born with CF usually show symptoms by age 2. Some children, though, may not show symptoms until later in life. The following signs are suspicious of CF, and infants having these signs may be further tested for CF:

Diarrhea that does not go away, Foul-smelling stools, Greasy stools, Frequent wheezing, Frequent pneumonia or other lung infections, Persistent cough, Skin that tastes like salt, Poor growth despite having a good appetite.

The symptoms of CF may resemble other conditions or medical problems. See a healthcare provider for a diagnosis.

QUOTE FOR THE WEEKEND:

“Cystic fibrosis (CF) is a genetic disorder that causes problems with breathing and digestion. CF affects about 35,000 people in the United States. People with CF have mucus that is too thick and sticky, which

  • blocks airways and leads to lung damage;
  • traps germs and makes infections more likely; and
  • prevents proteins needed for digestion from reaching the intestines, which decreases the body’s ability to absorb nutrients from food.
  • Sometimes it blocks the pancreas”

Center of Disease Prevention and Control CDC

Part I Cystic Fibrosis Awareness Month

Cystic fibrosis (CF) is a genetic disorder that causes problems with the lungs=breathing and digestion sytem.  It can obstruct the pancreas. CF affects about 35,000 people in the United States. Cystic fibrosis (CF) can be life-threatening, and people with the condition tend to have a shorter-than-normal life span.   This diagnosis can have mucus that is too thick and sticky, which

  • blocks airways and leads to lung damage;
  • traps germs and makes infections more likely; and
  • prevents proteins needed for digestion from reaching the intestines, which decreases the body’s ability to absorb nutrients from food.

Cystic fibrosis is a hereditary disease that affects the lungs and digestive system. The body produces thick and sticky mucus that can clog the lungs and obstruct the pancreas. 

What is this disease?

Cystic fibrosis (CF) is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.

In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride — a component of salt — to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.

In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. For this reason, minimizing contact with germs is a top concern for people with CF.

In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients, resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children.

Symptoms of CF

People with CF can have a variety of symptoms, including:

  • Very salty-tasting skin
  • Persistent coughing, at times with phlegm
  • Frequent lung infections including pneumonia or bronchitis
  • Wheezing or shortness of breath
  • Poor growth or weight gain in spite of a good appetite
  • Frequent greasy, bulky stools or difficulty with bowel movements
  • Male infertility

Cystic fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene — one copy from each parent. Both parents must have at least one copy of the defective gene.

People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are:

  • 25 percent (1 in 4) the child will have CF
  • 50 percent (1 in 2) the child will be a carrier but will not have CF
  • 25 percent (1 in 4) the child will not be a carrier and will not have CF

The defective CF gene contains a slight abnormality called a mutation. There are more than 1,700 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier.

Diagnosing cystic fibrosis is a multistep process, and should include a newborn screening, a sweat test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center. Although most people are diagnosed with CF by the age of 2, some are diagnosed as adults. A CF specialist can order a sweat test and recommend additional testing to confirm a CF diagnosis.

Read the CF Foundation’s clinical care guidelines for diagnosing CF.

According to the Cystic Fibrosis Foundation Patient Registry, in the United States:

  • More than 30,000 people are living with cystic fibrosis (more than 70,000 worldwide).
  • Approximately 1,000 new cases of CF are diagnosed each year.
  • More than 75 percent of people with CF are diagnosed by age 2.
  • More than half of the CF population is age 18 or older.

 Stay tune for Monday’s topic Part II on CF in How it affects different parts of the system and more!

 

QUOTE FOR FRIDAY:

“Harvest is typically a six to seven week season. Harvest is typically in full swing around the middle of May and through June.  Michigan moved up in the ranks as the 2nd largest producer of asparagus in the nation, producing just less than 21 million pounds.  It’s nutritious, flavorful and one of Michigan’s first signs of spring. Michigan asparagus is the state’s first green vegetable harvested each year. A typical Michigan asparagus harvest begins in mid-April, but in wake of a long, cold winter and cooler spring, it can be pushed back.

Pure Michigan (https://www.michigan.org/article/trip-idea/celebrate-national-asparagus-month-pure-michigan)

 

 

May is National Asparagus Month!

Why?  Here are some reasons asparagus is a health topic for May!

1- Asparagus is a low-calorie vegetable that is an excellent source of essential vitamins and minerals, especially folate and vitamins A, C and K.

2- Asparagus is a good source of antioxidants!

3- Antioxidants are compounds that help protect your cells from the harmful effects of free radicals and oxidative stress.

Oxidative stress contributes to aging, chronic inflammation and many diseases, including cancer.

Asparagus, like other green vegetables, is high in antioxidants. These include vitamin E, vitamin C and glutathione, as well as various flavonoids and polyphenols.

Asparagus is particularly high in the flavonoids quercetin, isorhamnetin and kaempferol.  These substances have been found to have blood pressure-lowering, anti-inflammatory, antiviral and anticancer effects in a number of human, test-tube and animal studies.

Purple asparagus contains powerful pigments called anthocyanins, which give the vegetable its vibrant color and have antioxidant effects in the body.  This increasing anthocyanin intake has been shown to reduce blood pressure and the risk of heart attacks and heart disease. So eating asparagus along with other fruits and vegetables can provide your body with a range of antioxidants to promote good health.

4- Dietary fiber is essential for good digestive health.

Taking a half a cup of asparagus contains 1.8 grams of fiber, which is 7% of your daily needs.

Studies suggest that a diet high in fiber-rich fruits and vegetables may help reduce the risk of high blood pressure, heart disease and diabetes!

Asparagus is particularly high in insoluble fiber, which adds bulk to stool and supports regular bowel movements.

It also contains a small amount of soluble fiber, which dissolves in water and forms a gel-like substance in the digestive tract.  Soluble fiber feeds the friendly bacteria in the gut.  Examples of friendly bacteria like Bifidobacteria and Lactobacillus.  Increasing the number of these beneficial bacteria plays a role in strengthening the immune system and producing essential nutrients like vitamins B12 and K2.  Eating asparagus as part of a fiber-rich diet is an excellent way to help meet your fiber needs and keep your digestive system healthy.

Endling line asparagus helps your digestive system by promoting regularity, digestive health and may aid in reducing your risk of heart disease, high blood pressure and diabetes.

5- It helps to support a healthy pregnancy!  How?  Asparagus is an excellent source of folate, also known as vitamin B9.  Just half a cup of asparagus provides adults with 34% of their daily folate needs and pregnant women with 22% of their daily needs.  Getting enough folate from sources like asparagus, green leafy vegetables and fruit can protect against neural tube defects, including spina bifida (both happening during fetal developement).  Folate is so vital during pre-pregnancy and early pregnancy that folate supplements are recommended to ensure women meet their requirements. Folate is an essential nutrient that helps form red blood cells and produce DNA for healthy growth and development. It’s especially important during the early stages of pregnancy to ensure the healthy development of the baby.

6- It helps lower the blood pressure!  High blood pressure affects more than 1.3 billion people worldwide and is a major risk factor for heart disease and stroke.  Research suggests that increasing potassium intake while reducing salt intake is an effective way to lower high blood pressure.  Potassium lowers blood pressure in two ways: by relaxing the walls of blood vessels and excreting excess salt through urine.

Asparagus is a good source of potassium, providing 6% of your daily requirement in a half-cup serving.

What’s more, research in rats with high blood pressure suggests that asparagus may have other blood pressure-lowering properties. In one study, rats were fed either a diet with 5% asparagus or a standard diet without asparagus.

After 10 weeks, the rats on the asparagus diet had 17% lower blood pressure than the rats on the standard diet.

Ending line, eating more potassium-rich vegetables, such as asparagus, is a great way to help keep your blood pressure in a healthy range.

7- It can help if your dieting to lose weight.  How?  First asparagus is about 94% water. Research suggests that consuming low-calorie, water-rich foods is associated with weight loss.  It can definitely help in dieting!

8- It’s inexpensive!

 

 

QUOTE FOR THURSDAY:

“First discovered in an Aboriginal Australian woman in 1961, the RH null (Rhesus null) is one of the rarest and most precious blood types in the world. Like a needle in a haystack, less than 50 people in the world are known to have it!

People who have the ‘golden blood’ type lack these Rh antigens. Their DNA lacks the genes responsible for building those RBC protein complexes. These people don’t just lack one, two or three of these 61 Rh antigens, they actually lack all of them. Yes, you read that right: all of them. As you might have guessed, people with Rhnull blood type have abnormal RBCs. They have deformed shapes, leaky membranes and shorter lifespans, which sometimes result in mild anaemia for the individual. Still, the absence of all Rh antigens makes Rhnull the ‘golden blood’, which is highly admired for its rarity and medical purposes.

To find out why this blood type was coined as the ‘golden blood’, we need to open the world of blood types and its systems.”

The University of Melbourne

Rh Null “The Golden Blood Type!”

Blood type (also called blood group) is genetically determined. Blood is primarily categorised based on the presence and/or absence of antigens on the surface of our red blood cells (RBCs). Antigens are distinct molecules or substances capable of coaxing an immune response. Our immune system sends out mini soldiers called antibodies (also known as immunoglobulins), which are special proteins that recognise and bind to these antigens.

If our antibodies recognise these antigens as allies or naturally part of our body, our immune system happily leaves it alone.  But if they detect enemy or foreign antigens, our immune system will go on an all-out war to destroy them. This is the reason you need give the blood type and Rh factor (positive or negative) that a patient is if they need blood transfusions to prevent this destructive action to take place unless your the universal donor type O with no antibodies.  Unfortunately, our immune system isn’t perfect. In rare cases, it does attack ‘self’ antigens, as seen in some cases of autoimmune blood disorders.

You might be familiar with the ABO blood group system. When you ask someone what blood type they are, they might respond with “AB”. They are referring to this most important blood group system in human-blood transfusion. It comprises of only two antigens (antigen A and antigen B), but it can produce these four ABO blood types: A, B, AB or O.  At present, the International Society of Blood Transfusion recognises 36 human blood group systems and more than 300 different antigens.  The most common are type ABO and AB blood types.

Why does Rh positive or negative matter in knowing for your blood type?

The Rh blood group system has a colourful history. It consists of 61 blood group antigens (Rh antigens), which are expressed as part of a protein complex found only in RBC membranes. Rh antigens are believed to be essential for maintaining the integrity of RBCs.

Briefly going back to ABO blood group system, some people might tell you that they’re “O negative” or “A positive”. The negative/positive part refers to the absence or presence of one Rh antigen: the Rh(D) antigen. It’s the main Rh antigen considered for human-blood transfusion.

So what is Rh Null?

People who have the ‘golden blood’ type lack these Rh antigens. Their DNA lacks the genes responsible for building those RBC protein complexes. These people don’t just lack one, two or three of these 61 Rh antigens, they actually lack all of them. Yes, you read that right: all of them. As you might have guessed, people with Rh Null blood type have abnormal RBCs. They have deformed shapes, leaky membranes and shorter lifespans, which sometimes result in mild anaemia for the individual. Still, the absence of all Rh antigens makes Rh null the ‘golden blood’, which is highly admired for its rarity and medical purposes.

Rare blood types within the Rh blood type system can make it difficult or even impossible to get a blood transfusion. This makes Rh Null blood as the ‘universal’ life-saving blood for the Rh blood type system (especially if the donor has an ABO blood type O too).

But rarity comes at a price. If people with Rh Null blood type requires a blood transfusion, they can only receive Rhnull blood themselves. Even if they receive an O-negative blood, the presence of other Rh antigens on the RBCs may trigger a severe immune response. Therefore, these ‘golden blood’ carriers are solely dependent on other Rh Null donors, but only a few of them regularly donate and they are all spread out across the world.

This is why Rh Null blood is considered as the ‘golden blood’, but it’s not all sunshine and rainbows for those people who carry it. Still, we can’t deny the life-saving properties of this rare blood type and we can deeply appreciate the generosity of those selfless donors.

QUOTE FOR WEDNESDAY:

“Hepatitis D and E typically have abrupt onset of fever, nausea, and abdominal pain followed by jaundice. Hepatitis D may progress to chronic hepatitis.  Hepatitis D  is known as “delta hepatitis,” is a liver infection caused by the Hepatitis D virus (HDV). Hepatitis D is uncommon in the United States. Hepatitis D only occurs among people who are infected with the Hepatitis B virus (BHV) because HDV is an incomplete virus that requires the helper function of HBV to replicate. HDV. Hepatitis E is a liver infection caused by the Hepatitis E virus (HEV). Hepatitis E is a self-limited disease that does not result in chronic infection. While rare in the United States, Hepatitis E is common in many parts of the world. It is transmitted from ingestion of fecal matter, even in microscopic amounts, and is usually associated with contaminated water supply in countries with poor sanitation. There is currently no FDA-approved vaccine for Hepatitis E. ”

Washington State Dept of Health

PART III Hepatitis D and E.

hepatiti IIa    Hepatitis II

HEPATITIS D

Hepatitis D (hepatitis delta) is a disease caused by the hepatitis D virus (HDV), a small circular enveloped RNA virus. This is one of five known hepatitis viruses: A, B, C, D, and E. HDV is considered to be a sub-viral satellite because it can propagate only in the presence of the hepatitis B virus (HBV). Transmission of HDV can occur either via simultaneous infection with HBV (coinfection) or superimposed on chronic hepatitis B or hepatitis B carrier state (superinfection).

Both superinfection and coinfection with HDV results in more severe complications compared to infection with HBV alone. These complications include a greater likelihood of experiencing liver failure in acute infections and a rapid progression to liver cirrhosis, with an increased chance of developing liver cancer in chronic infections. In combination with hepatitis B virus, hepatitis D has the highest fatality rate of all the hepatitis infections, at 20%.

The routes of transmission of hepatitis D are similar to those for hepatitis B. Infection is largely restricted to persons at high risk of hepatitis B infection, particularly injecting drug users and persons receiving clotting factor concentrates. Worldwide more than 15 million people are co-infected. HDV is rare in most developed countries, and is mostly associated with intravenous drug use.

TREATMENT:

The vaccine for hepatitis B protects against hepatitis D virus because of the latter’s dependence on the presence of hepatitis B virus for it to replicate.

Low quality evidence suggests that interferon alpha can be effective in reducing the severity of the infection and the effect of the disease during the time the drug is given, but the benefit generally stops when the drug is discontinued, indicating that it does not cure the disease. Interferon is effective only in ~20% of cases.

The drug myrcludex B, which inhibits virus entry into hepatocytes, is in clinical trials as of October 2015

Hepatitis E infection is found worldwide and is common in low- and middle-income countries with limited access to essential water, sanitation, hygiene and health services. In these areas, the disease occurs both as outbreaks and as sporadic cases. The outbreaks usually follow periods of faecal contamination of drinking water supplies and may affect several hundred to several thousand persons. Some of these outbreaks have occurred in areas of conflict and humanitarian emergencies such as war zones and camps for refugees or internally displaced populations, where sanitation and safe water supply pose special challenges.

Sporadic cases are also believed to be related to contamination of water, albeit at a smaller scale. The cases in these areas are caused mostly by infection with genotype 1 virus, and much less frequently by genotype 2 virus.

In areas with better sanitation and water supply, hepatitis E infection is infrequent, with only occasional sporadic cases. Most of these cases are caused by genotype 3 virus and are triggered by infection with virus originating in animals, usually through ingestion of undercooked animal meat (including animal liver, particularly pork). These cases are not related to contamination of water or other foods.