Cystic Fibrosis Mutations: Class II

Class II  Mutations:

An example of a Cystic Fibrosis class II mutation is Delta F508

This class contains a defective CFTR protein processing and trafficking. The post translational processing and transport reduce the number of CFTR proteins that are delivered to the cell surface.The protein is unable to fold correctly.

Lung function range in patients with Delta F508:

This chart was created with data from CFTR2.org and CFF.org

Cystic Fibrosis Mutations: Class I

Class I Mutations:

An example of a Cystic Fibrosis nonsense-stop mutation is G542X.

This class includes premature termination codons (PTCs)- a point mutation in the DNA sequence that results in a premature stop. Missing information is the cause of the premature stop and as a result, the protein product is usually nonfunctional and incomplete. The missing genetic information stops cells from making complete CFTR proteins.

Lung function range in patients with G542X:

This chart was created with data from CFTR2.org and CFF.org

Normal CFTR protein channels

Normal Cystic Fibrosis Transmembrane Conductance Regulators (CFTR) transport chloride and bicarbonate ions through the cell membrane of epithelial cells. This helps to regulate fluid and electrolyte balance in the epithelial tissues throughout the body. Epithelial tissue is found in the lungs, sinuses, pancreas, intestines, reproductive system, and sweat glands. When ion flow fails, the ionic concentration of the secretions is modified. The epithelia no longer maintains surface hydration and can cause the duct lumens to obstruct. 

CFTR activity is determined by the quantity of CFTR channels at the cell surface, the amount of time each channel is open (gating), and the amount of ions conducted in a given time in each channel (conductance). CFTR quantity is determined by gene transcription, proper splicing, and mRNA translation, processing and trafficking and the maturation of the CFTR protein and the delivery of it to the cell's surface, and surface stability- the amount of time a CFTR channel is at the surface before being removed and recycled.

According to in vitro experimentation (Bompadre SG, Sohma Y, Li M, Hwang TC. G551D and G1349D), CFTR protein channels have an open probability of ~40%, meaning they are open approximately 40% of the time.

Cystic Fibrosis Mutations

The genetic mutation that causes Cystic Fibrosis was discovered in 1989. Mutations on a single gene- the Cystic Fibrosis Transmembrane Regulator (hereafter referred to as CFTR) causes the most common, fatal genetic disease.

Since the discovery of the CFTR gene, researchers have identified over 1,800 mutations. These mutations are grouped into different classes and types dependent upon how the mutation affects the key protein produced by the CF gene.

The CFTR gene is located on the 7th chromosome and is composed of 250,000 DNA nucleotides. In healthy people (those with normally functioning CFTR genes), the CFTR is located on the surface of the cells that line the lungs and other organs. The protein made by the CFTR is a chloride channel. Chloride flows in and out of the cells through a "doorway" and water flows behind in. The water keeps the mucus this and moves it out as well.

What is a nucleotide?
A structural components of DNA and RNA. A nucleotide consists of one of the following chemicals: adenine, thymine, guanine, or cytosine, plus a molecule of sugar and one of phosphoric acid.

What does the CFTR gene do?
The CFTR protein functions as a channel for the movement of chloride ions in and out of our cells. This is important for the salt and water balance on epithelial surfaces (the tissue that lines the cavities and surfaces throughout the body). A balanced level is highly important for the lungs and pancreas, however, due to mutations of the CFTR, these organs are negatively affected. The mutations affect the composition of the mucus layer (airway surface liquid, ASL- a liquid and mucus gel layer that contains salt) that lines the epithelial surfaces in the lungs and pancreas. A disruption in of ion transport affects the salt concentration in the sweat. This is why sweat tests are used as a diagnostic measure.

Although a diagnosis of Cystic Fibrosis is usually straightforward, genetic testing is preferred. Genotype is not the final arbiter of a clinical diagnosis of CF. Diagnosis is primarily based on: sweat testing, nasal potential difference, and genetic analysis. None of these features are sufficient on their own to make a diagnosis of CF.

In order to Cystic Fibrosis, a person must have inherited two defective genes from both parents. The mutations can be the same (homogenous) or different (heterogenous). For example, a person could have the 621+1g>t mutation and the F508del mutation. The heterogeneity of CFTR mutations in various populations makes mutation detection rates extremely challenging. A small number of CF patients have only one or no CFTR mutations identified.

Why do mutations matter?
Not every case of Cystic Fibrosis is the same. A CF Patient's mutation determines what happens on a cellular level.

Identification of the underlying mechanisms that cause CF allows for researchers to better understand how certain medications can help specific CF patients. CFTR targeted therapies could treat the issues on a cellular level, which would address the cause of CF as opposed to the symptoms of CF.

The Role of Antioxidants

The Cystic Fibrosis Foundation has funded research studies on antioxidant therapies in patients with CF.

Antioxidants counteract damaging effects on the body's cells caused by free radicals. Free radicals can cause a domino effect of damage on the body. By maintaining a higher number of antioxidants, the damage can be slowed down by neutralizing and removing free radicals from the bloodstream.

Although CF has negative implications on the digestion system, it is still pertinent to one's health to intake a well balanced diet high in nutritional value. The development of a new vitamin by Yasoo Health (the producers of Aquadek) is underway and will contain vitamins and micronutrients that are not in the currently recommended CF vitamins.

In the meantime, you can eat the following fruits, veggies, and nuts to up your daily dosage of antioxidants. Keep in mind that although they are good for you, too much of a good thing can be bad! If you decide to make any drastic changes in your diet or vitamin regimen, consult your doctor and dietician beforehand!

Resource

Bronchoscopy

A bronchoscopy is a procedure in which a patient's airways are examined. The larynx (voice box), trachea (wind pipe) and bronchii (smaller wind pipes within the lungs) are all observed as the patient breathes in and out. This technique is done in an exam room at a hospital or specialized clinic. It usually lasts about 30 minutes, but including prep time and recovery, it can take approximately 4 hours. Eating or drinking before the procedure is not allowed. 

Medicine is usually administered via IV or by mouth to make you relaxed and sleepy.The anesthesiologist may administer a numbing medicine (lidocaine) through the bronchoscope to numb the larynx, trachea and bronchii.

The procedure is recorded with a flexible, fiber optic bronchoscope, which has a light and small camera. A bronchoscope is a soft tube no larger than 1/4'' in diameter. It can be passed through the nose or throat.

During the procedure, your doctor may take a sample of lung fluid or tissue for further testing. The following methods can be used to obtain a lung tissue sample:

• Bronchoalveolar lavage- A small amount of saline solution (salt water) is administered through the bronchoscope and into part of your lung. The salt water is then suctioned out. The fluid picks up cells and bacteria from the airway, which your will be reviewed.
• Transbronchial needle aspiration- A needle is inserted into the bronchoscope and removes cells from the lymph nodes in your lungs. These nodes are small, bean-shaped masses. They trap bacteria and cancer cells and help fight infections.
• Transbronchial lung biopsy- Forceps are entered into the bronchoscope and a small tissue sample from inside the lung is taken.

During the procedure, oxygen levels will be observed to ensure enough air is getting to the lungs. If the levels decrease, oxygen will be given.

Side effects of the procedure are generally minimal. They may include soreness of the throat, fever, hoarseness, cough or wheezing. To prevent/minimize the side effects, anti-inflammatories may be prescribed by the performing physician. 

Tips:

• Inform the physician if there have been any changes in the patient's condition- fever, worsening cough,hemoptysis, etc.
• Bring the a detailed list of medications including dosages, list of allergies

Resource

Shop and Support

I use Amazon.com for a majority of my purchases. From bakeware to back to school, I'm frequently comparing prices and checking out.

Now you can shop and support the CF Foundation. Go to smile.amazon.com instead of amazon.com. When you enter through the new gateway, you will be prompted to select an organization that .5% of your purchase will go to. You can also search "Cystic Fibrosis Foundation" and select it that way. The Amazon Smile page is the exact same site- same prices, selection, etc. The only exception is that eligible products are marked on the details page.

The Cystic Fibrosis Foundation doesn't receive government funding, so this is an excellent way to increase funds and awareness.

More info here. 

Shop on!

Rebecca

Bones

Normal bone density- left, 
Osteoporosis bone density- right

People with Cystic Fibrosis are prone to developing osteoporosis and osteopenia. Bones play a variety of roles in the body such as providing structure, protecting organs, storing calcium, and more. Osteoporosis is a systemic skeletal disease characterized by low bone mass and deterioration of bone tissue that results in an increase in bone fragility and susceptibility to fracture. Minerals that build strong bones are calcium, phosphorus, fluoride, and magnesium. Osteopenia develops when the bones have insufficient amounts of these minerals. Bones become brittle and weak.

There are a number of factors that can affect bone health

• calcium deficiency- diminishes bone density, increases risk of fractures
• physical activity- inactive people have an increased risk of osteoporosis
• certain medications- prednisone,  SSRIs, anti-seizure medications 
• alcohol and tobacco use- alcohol can interfere with the body's ability to absorb calcium

In CF, these bone diseases can happen at any age and as you get older, the risk increases. 

The malabsorption caused by CF affects the amount of vitamins and mineral the body is able to absorb. Vitamin D is a fat soluble vitamin and is vital to bone health in addition to calcium. It is important to take the correct amount of enzymes and maintain a nutritious diet to ensure healthy bones. 

Bone Density Scan- the most common and accurate way uses a dual-energy x-ray absorptiometry (DXA or DEXA) scan. DXA uses low-dose x-rays. (a chest x-ray has more radiation)

2 types of DXA 

• Central DXA- lie on a soft table and the scanner passes over your lower spine and hip. This scan is the best test to predict your risk of fractures.
• Peripheral DXA (p-DXA)- The smaller machines measure the bone density of smaller bones like wrists, fingers, legs.

Recommended Dietary Allowances
(RDAs) for Calcium

a few foods high in calcium *values are approximate and vary based off of flavor, freshness, serving size, etc

• 1 c whole milk 290 mg
• 1/2 c almonds 190 mg
• 1 c spinach 240 mg
• 6 oz calcium fortified orange juice 261 mg
• 3 oz canned salmon 181 mg
• 1 c plain yogurt 415 mg

*It is important that you discuss any changes in your vitamin regimen, dosage, and frequency with your doctor and/or dietitian. Blood work ordered by your physician and help determine whether or not you are deficient in vitamins.

More Info

Disability Resources

Disability resource look up by state

The American Disabilities Act online 

To file discrimination charges against an employer EEOC

Cystic Fibrosis Patient Assistance Foundation

For more information about government benefits contact CFLegal@sufianpassamano.com or call (800) 622-0385

Tips for applying for social security disability: 

• Find out if your personal physician will support your disability case. Your doctor may fill out an RFC form stating your medical condition and why you are unable to work.
• Submit copies of your most recent medical records and provide copies each time you submit an appeal.
• Promptly respond to correspondence regarding your case (phone calls, mail), call DDS for updates
• Remember your deadlines

Vitamin D

Routine blood work can show a deficiency in vitamin D, which is a very common problem. Often times, we lack adequate exposure to natural sunlight which plays a crucial role in maintaining proper vitamin D levels. Another cause of deficiency is an abnormal digestive process, like malabsorption caused by CF.

Deficiency of vitamin D can cause  hyperparathyroidism, osteoporosis, and osteomalacia. It can also negatively impact cell growth, bone growth, hormone regulation, affect the nervous and immune systems.

Sunlight is important in maintaining normal  levels because the sun synthesizes vitamin D from natural UV rays. It's converted to an active form by the kidneys and liver. About 10-15 minutes of sunlight is enough to absorb a daily dose.

Vitamin D enhances the immune system's functioning, aids in strengthening muscles, teeth, and bones, and facilitates the absorption of other vitamins.

The CF Clinic in Dallas requests labs (blood work) every visit. My vitamin D levels have always been low, despite taking a supplement daily.

Vitamin D enriched foods include:
(IU- International Units)

1 lg egg- 44 IU
raw white mushrooms- 164IU
1/2 fillet sockeye salmon- 1,400IU
camembert cheese- 44IU
1c of whole milk 124 IU 
 4 pieces of sushi 14 IU 
1 serving of tofu 157 IU 
1 serving of canned salmon 547 IU
1 packet of oatmeal 154 IU
1 serving canned tuna 234 IU 
1 c vanilla yogurt 122 IU
1 serving swordfish 566 IU

Always check with your doctor before you make any changes in your diet or the vitamins you take. While you don't want to be deficient, you don't want to have an overload either.


NIH

Always,

B.

Facts About Ebola

Transmission

Because the natural reservoir of ebolaviruses has not yet been proven, the manner in which the virus first appears in a human at the start of an outbreak is unknown. However, researchers have hypothesized that the first patient becomes infected through contact with an infected animal.
When an infection does occur in humans, there are several ways in which the virus can be transmitted to others. These include:

-direct contact with the blood or secretions of an infected person

-exposure to objects (such as needles) that have been contaminated with infected secretions

The viruses that cause Ebola HF are often spread through families and friends because they come in close contact with infectious secretions when caring for ill persons.

During outbreaks of Ebola HF, the disease can spread quickly within health care settings (such as a clinic or hospital). Exposure to ebolaviruses can occur in health care settings where hospital staff are not wearing appropriate protective equipment, such as masks, gowns, and gloves.

Proper cleaning and disposal of instruments, such as needles and syringes, is also important. If instruments are not disposable, they must be sterilized before being used again. Without adequate sterilization of the instruments, virus transmission can continue and amplify an outbreak. 

Symptoms of Ebola HF typically include:

Fever
Headache
Joint and muscle aches
Weakness
Diarrhea
Vomiting
Stomach pain
Lack of appetite 

Some patients may experience:

A Rash
Red Eyes
Hiccups
Cough
Sore throat
Chest pain
Difficulty breathing
Difficulty swallowing
Bleeding inside and outside of the body 

Prevention

0. The prevention of Ebola HF presents many challenges. Because it is still unknown how exactly people are infected with Ebola HF, there are few established primary prevention measures.
   When cases of the disease do appear, there is increased risk of transmission within health care settings. Therefore, health care workers must be able to recognize a case of Ebola HF and be ready to employ practical viral hemorrhagic fever isolation precautions or barrier nursing techniques. They should also have the capability to request diagnostic tests or prepare samples for shipping and testing elsewhere.
   Barrier nursing techniques include:
   
   
   • wearing of protective clothing (such as masks, gloves, gowns, and goggles)
   • the use of infection-control measures (such as complete equipment sterilization and routine use of disinfectant)
   • isolation of Ebola HF patients from contact with unprotected persons
     The aim of all of these techniques is to avoid contact with the blood or secretions of an infected patient. If a patient with Ebola HF dies, it is equally important that direct contact with the body of the deceased patient be prevented.
     CDC, in conjunction with the World Health Organization, has developed a set of guidelines to help prevent and control the spread of Ebola HF. Entitled Infection Control for Viral Hemorrhagic Fevers In the African Health Care Setting, the manual describes how to:
   • recognize cases of viral hemorrhagic fever (such as Ebola HF)
   • prevent further transmission in health care setting by using locally available materials and minimal financial
     resources 
     
     
     CDC Factsheet

Chicken Alfredo- High Calorie Recipe

Loaded Chicken Alfredo

From the kitchen of Rebecca Mia

Ingredients:

Barilla Angel hair pasta 16oz

Stick of butter

7 chicken breast

1 bag frozen peas 12oz

3 cups sliced mushrooms

1 small red onion

Weber garlic & herb seasoning

Salt & pepper

Garlic

Parmesan cheese

Directions:

Pasta: Bring 4 - 6 quarts of water to a rolling boil, add salt to taste. Add pasta. Stir gently. Return to a boil. Remove from heat. Drain well. Meanwhile, sauté onions, mushrooms and peas in butter

Chicken: Sprinkle Weber's seasoning to taste, preheat grill for medium heat, & lightly oil grate.

Cook chicken on grill until meat is no longer pink & juices run clear.

Sauce: Melt ½ stick butter in a medium saucepan over medium/low heat. Add the garlic, cream, pepper & salt, bring mixture to a simmer. Low heat- do not boil. Add the 1/2 c cheese, & continue to simmer sauce for 8 minutes or until thick.

Slice chicken; mix with sauce, pasta, & veggies

click here for a Downloadable recipe card 

Nutritional values are approximate.
0 values were not calculated
Serving size is 1.5 cups cooked, 1 chicken breast



label generator
calorie counter

Cycle For Life

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CT scan vs X-ray

At every clinic appointment, I have go to the lab for x-rays. This past appointment, my doctor expressed the need for a CT scan (aka CAT scan) after viewing my x-rays.

So, what's the difference? 

Chest x-ray: left lateral

X-rays are the most commonly used imaging technique. Your body is positioned between the machine and photographic film. The machine sends electromagnetic waves through your body exposing you internal structure. The level of radiation is not harmful but you should inform the technician if you are or might be pregnant. Bones, tumors, and dense matter will appear as white or light on the image.The process takes only a few minutes.

A CT scan takes a 360 degree picture of internal organs, vertebrae, and the spine. It is more similar to an MRI than an x-ray. You can think of it as a highly sophisticated x-ray. Depending on the reason for the CT scan, a contrast dye might be used to make structures more visible. 

Types of dye include barium- which is used for gastro-intestinal CT views or iodinated which is used intravenously to highlight the vessels and tissue changes.

Chest CT can demonstrate various lung disorders:
-old or new pneumonia, show advancements of pneumonia
-tuberculosis
-COPD/emphysema 
-inflammation or other diseases of the pleura, the covering of the lungs
-diffuse interstitial lung disease

CT machine at BUMC

-lung cancer
-congenital abnormalities.

The machines used for CTs and x-rays also differ. The CT machine looks like a big donut and you lay on a bed that runs you through the center of it. There are receptors and x-ray tubes that spin around you and make a humming sound as they take pictures of your organs. 

Image captured: 

Radiation exposure of CT scans is higher than other forms of imaging.


Please remember, I am NOT a physician, radiologist, or in the medical field. I write based off of my knowledge and experience. 


Resource

The Fault In Our Stars-3 half K giveaway!

Thank you to all of July's visitors!  To celebrate 3,500 visitors this month, I'm giving away a brand new copy of The Fault In Our Stars! To enter to win, like my cycling page and comment "entered to win."

 

www.Facebook.com/rebeccascyclingjourney

 

The winner will be announced by midnight CT this Thursday   

 

 

 

 

Good luck!

-B.

How I Clean My Neb Cups

It is extremely important to properly clean and store your nebulizer cups. It can be time consuming, and if you're like me (college student status), it can be difficult to find a clean, dry, safe place to store them. Here's some information about how I clean and store my nebz.

According to Pari.com, a leading company for respiratory equipment, the cups are designed to last about 6 months from the first use with proper cleaning. Some neb cups have timestrips to remind you when to replace them. Depending on what medication you're putting in the cup, the lifespan can be shortened. For medicines like Tobi, specialized cups are available. I highly recommend that when you get sick, you replace all of your cups to better control the bacteria and prevent a relapse. The hospital I go to offers 3-4 cups per visit. I am very adamant about grabbing a few extras to have around just in case.

Purchase one like this here

Cleaning: Immediately after the  every treatment rinse the nebulizer thoroughly. This will prevent buildup of leftover medication and saliva. You can either allow them to soak in warm water for 5-7 minutes and hand wash them, or toss them in the dishwasher.  You can purchase a basket like the one pictured on Amazon, at Target, and other nearby stores. They're generally used for baby bottles, but I find that they are also beneficial in storing the neb cups to avoid having them fly throughout the dishwasher. Always place the basket on the top rack. If you place them on the bottom, you run the risk of leftover gunk falling from the top rack and melting them! DO NOT wash the tubing! *Please make sure your dishwasher is cleaned regularly. You can find instructions on how to do that here.* Be sure to rinse with STERILE water! Allow them to air dry if you choose the handwash method.

Disinfecting: Every other day, after you've finished your nebz and cleaned them, you can do a low level disinfecting. Pari suggests the following mixture:

Mix a solution of 1 part distilled white vinegar and 3 parts warm tap water in a clean bowl. Soak the nebulizer parts (except the tubing and mask) for 60 minutes, then rinse thoroughly.

Alternatively, mix a solution using Control III® Nebulizer Disinfectant and follow manufacturer’s instructions. Rinse thoroughly.

You can also disinfect your nebulizer parts by boiling in a clean pot of water for 10 minutes. Be sure to keep a close eye on them while you're boiling them...you don't want them to warp or melt because it can decrease their effectiveness. 

According to CFF.org, you can:
boil your nebs for 5 minutes, microwave for 5 minutes, dishwasher for 30 minutes, electric steam sterilizer OR you can use the cold methods: soak in 3% hydrogen peroxide for 30 minutes, soak in 70% isopropyl alcohol for 3 minutes

Some compressors have filters made into them. It's always best to change these when you notice they're starting to become discolored, usually a yellow color. The recommended time to change your filter out is every 6 months.

Educational post, right?

WRONG. We all have lives, families, school, jobs, and other duties. While it would be great if we could do this EVERY day, it is seemingly unreasonable. I highly encourage you to do the aforementioned cleaning instructions, however, there are ways to adapt them to accommodate...LIFE.

-Designate your neb cups for certain medications and label them. You can use masking tape, a label, or just a permanent marker to identify what's flowing through your cup. Albuterol, hypertonic saline, Tobi, Pulmozyme, etc

-After each use, rinse thoroughly with hot water. Allow to air dry. 

-Store them in an air tight container until the next use

Clean and disinfect them as the aforementioned instructions recommended once a week. 

Breathe Easy,

-B.

PARI FAQ

High Sodium Tips

CF affects the body's epithelial cells- cells that are found in sweat glands, pancreas, and lungs amongst other places. A mutation in these cells causes an imbalance of water and salt in the body.

CF bodies secrete more sodium in their sweat than an average person. Because there is a decreased amount of salt and water outside of the cells, the mucus becomes very thick and difficult to cough up.

It is important for people with CF to consume higher amounts of sodium. This can prove difficult for many. A couple of suggested items are:

Gatorlytes- 780 mg of sodium, 400 mg of potassium

360 mg of sodium, 13 mg of calcium, 25 mg of magnesium, 100 mg of potassium

Clif Shot Bloks are delicious and have 50 mg of sodium per serving. They're inexpensive and I bet kids would love them- just like gummy snacks! They come in a variety of flavors like black cherry, strawberry, mountain berry, citrus and more.

Be sure to discuss any new items such as the above mentioned to your doctor and/or dietician for more information regarding your health. If you have elevated potassium levels or other complications, it may be best to ask your doctor if these are right for you. When consuming these, make sure adequate amounts of water are also consumed. 

Google this

It's important to note that what you read on the internet isn't always true. Shocking, I know! With the information and advice posted on my blog, I encourage you all to take the information I relay to your doctor, respiratory therapist, social worker, etc. (This is CLEARLY stated at the top of my blog page as well as throughout each post)

When receiving a diagnosis as severe as Cystic Fibrosis, the mind is naturally curious. Technology has become our primary source of information, but with this, we must use caution. Doing a simple Google search can be beneficial when searching from credible sites such as CFF.org When looking for educational information, these tips can help:

What is the host site? (blogger.com, a school ".edu," etc)
Who is the author? (An educator, advocate, researcher, physician, student, etc)
How recent is the source? (As well all know, information regarding Cystic Fibrosis specifically changes constantly, information from 10 years ago may not be applicable today)

While the internet is indeed a great resource, it can be damaging at times. Below are a few CF websites that are reliable.


http://www.cff.org/
http://www.nhlbi.nih.gov/health/health-topics/topics/cf/
http://kidshealth.org/teen/diseases_conditions/digestive/cystic_fibrosis.html



-B.