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Diagnosis

Cystic fibrosis FAQs

Pulmonologist Sarah Chalmers, M.D., answers the most frequently asked questions about cystic fibrosis.

Nội dung chính

    Newborn screening and diagnosis
    Testing of older children and adults
    Medications
    Medications that target

    genes

    Airway clearance techniques
    Pulmonary rehabilitation
    Surgical and other procedures
    Clinical trials
    Lifestyle and home remedies
    Pay attention to nutrition and fluid intake
    Keep vaccinations up to date
    Eliminate smoke
    Encourage

    hand-washing

    Attend medical appointments
    Coping and tư vấn
    Preparing for your appointment
    What you can do
    What to expect from your doctor
    What are nursing interventions for cystic fibrosis?
    Which is the best explanation for the nurse to provide to the student?

://.youtube/watch?v=80hzC1w6Boc

Hello. I’m Dr. Sarah Chalmers, a pulmonologist Mayo Clinic. And I’m here to answer some of the important questions you may have about cystic

fibrosis.

Just because your baby’s newborn screen came back positive does not mean that your baby has cystic fibrosis. Most babies who have a positive screening actually don’t have CF. The newborn screen looks a substance in the blood that is elevated in cystic fibrosis, but it can be elevated in other conditions as well, even premature birth. Some states also test for a gene mutation, but even if this comes back positive, it doesn’t mean your baby has the disease. People with only one

mutation are called carriers. It’s very common in the United States and one in 20 people are CF gene mutation carriers. If your baby has a positive cystic fibrosis screen, they will need to see their doctor and have a sweat chloride test to see if they do have cystic fibrosis.

CF gene mutations are actually passed from parent to children in a specific pattern called autosomal recessive. Each parent passes one CF gene to their child, and therefore each person has two CF genes. To get the

disease, both genes have to have a mutation. People with one CF gene are called carriers. If a parent is a carrier, there’s a 50 percent chance they’ll pass on the gene with a mutation to their child. If both parents pass on a normal gene, or only one parent passes a gene with a mutation, the child will not have CF. If both parents pass on a gene with a mutation, then the baby will have two genes with the mutation and will likely get the disease. If both parents are CF mutation carriers, there’s

a 25 percent chance that each one of their babies will be born with cystic fibrosis.

So both males and females can get cystic fibrosis. But females tend to have more symptoms, more lung infections, and they tend to start these symptoms of infections earlier in life as compared to males. No one knows for sure why this is so.

Actually, nearly 10 percent of cases of CF are diagnosed in adulthood. You’re born with cystic fibrosis, but there are several reasons why it may not be diagnosed

during childhood. Prior to 2010, some states didn’t even screen for cystic fibrosis. So if you were born before 2010, you may not have received a newborn screening test for cystic fibrosis as a baby. Some gene mutations cause very mild disease and symptoms may go unnoticed until adulthood.

CF symptoms, how the disease affects the patient’s organs and how it impacts their life is very different from one person to the next. Some people have very mild disease with only one organ affected and

very few symptoms, while others have more severe disease with troublesome symptoms and multiple organs that are affected. Many factors including gene mutation type determine the impact on the patient. But your cystic fibrosis care team can work with you as an individual patient to create a personalized treatment plan that meets your individual needs.

Fertility is affected in both men and women with cystic fibrosis. Women with CF have thicker cervical mucus and they may also have irregular

menstrual cycles. So it may take longer for women with CF to become pregnant. But most can become pregnant, have a normal pregnancy and a normal delivery. Almost all men with CF have infertility. Men with CF make normal sperm, but the sperm canal is absent. Because they still make sperm, assisted reproductive technologies can be used to help male CF patients have biologic children. Whether your children get CF or not depends on the combination of genes passed on from you and your significant

other and can range from zero chance if neither parent has a gene mutation to a near 100% chance if both parents have CF.

Always be honest with your health care team. Let us know which medications you’re taking and how often you’re doing your treatments. Write down your questions before you come to your appointment so that we can make sure that we are meeting your needs. Thanks for your time. And we wish you well.

To diagnose cystic fibrosis, doctors typically do a physical

exam, review your symptoms and conduct several tests.

Newborn screening and diagnosis

Every state in the U.S. now routinely screens newborns for cystic fibrosis. Early diagnosis means that treatment can begin immediately.

In one screening test, a blood sample is checked for higher than normal levels of a chemical called immunoreactive trypsinogen (IRT), which is released by the pancreas. A newborn’s IRT levels may be high

because of premature birth or a stressful delivery. For that reason, other tests may be needed to confirm a diagnosis of cystic fibrosis.

To evaluate if an infant has cystic fibrosis, doctors may also conduct a sweat test once the infant is least 2 weeks old. A sweat-producing chemical is applied to a small area of skin. Then the sweat is collected to test it and see if it’s saltier than normal. Testing done a care center accredited by the Cystic Fibrosis Foundation helps ensure

reliable results.

Doctors may also recommend genetic tests for specific defects on the gene responsible for cystic fibrosis. Genetic tests may be used in addition to checking the IRT levels to confirm the diagnosis.

Testing of older children and adults

Cystic fibrosis tests may be recommended for older children and adults who weren’t screened birth. Your doctor may suggest genetic and sweat tests for

CF if you have recurring bouts of an inflamed pancreas, nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility.

Treatment

There is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications and improve quality of life. Close monitoring and early, aggressive intervention is recommended to slow the progression of CF, which can lead to a longer life.

Managing

cystic fibrosis is complex, so consider getting treatment a center with a multispecialty team of doctors and medical professionals trained in CF to evaluate and treat your condition.

The goals of treatment include:

    Preventing and controlling infections that occur in the lungs
    Removing and loosening mucus from the lungs
    Treating and preventing intestinal blockage
    Providing adequate nutrition

Medications

Options include:

Medications that target

genes

For those with cystic fibrosis who have certain gene mutations, doctors may recommend cystic fibrosis transmembrane conductance regulator (CFTR) modulators. These newer medications help improve the function of the faulty CFTR protein. They may improve lung function and weight, and reduce the amount of salt in sweat.

The FDA has approved these medications for treating

CF in people with one or more mutations in the CFTR gene:

    The newest combination medication containing elexacaftor, ivacaftor and tezacaftor (Trikafta) is approved for people age 12 years and older and considered a breakthrough by many experts.
    The combination medication containing tezacaftor and ivacaftor (Symdeko) is approved for people age 6 years and older.
    The combination medication containing lumacaftor and ivacaftor (Orkambi) is approved for people who are age 2 years and older.
    Ivacaftor (Kalydeco) has been approved for people who are 6 months and older.

A milestone treatment for CF

Tim Myer has lived with cystic fibrosis (CF) his whole

life. He was awaiting a lung transplant when a new medication approved by the Food and Drug Administration changed everything. Myer and Dr. Mark Wylam, a Mayo Clinic pulmonologist who is Myer’s physician, share the remarkable story.

Mayo Clinic Q..&A podcast

Doctors may conduct liver function tests and eye exams before prescribing these medications. While taking these drugs, testing on a regular basis is needed to check for side effects such as liver function

abnormalities and cataracts. Ask your doctor and pharmacist for information on possible side effects and what to watch for.

Keep regular follow-up appointments so your doctor can monitor you while taking these medications. Talk to your doctor about any side effects that you experience.

Airway clearance techniques

Vest therapy

Using a personalized approach, a Mayo Clinic respiratory therapist discusses inflatable vest therapy with an adult who has cystic fibrosis.

Airway clearance techniques — also called chest physical therapy (CPT) — can relieve mucus obstruction and help to

reduce infection and inflammation in the airways. These techniques loosen the thick mucus in the lungs, making it easier to cough up.

Airway clearing techniques are usually done several times a day. Different types of CPT can be used to loosen and remove mucus, and a combination of techniques may be recommended.

Your doctor will instruct you on the type and frequency of chest physical therapy that’s best for you.

Pulmonary rehabilitation

Your doctor may recommend a long-term program that may improve your lung function

and overall well-being. Pulmonary rehabilitation is usually done on an outpatient basis and may include:

    Physical exercise that may improve your condition
    Breathing techniques that may help loosen mucus and improve breathing
    Nutritional counseling
    Counseling and tư vấn
    Education about your condition

Surgical and other procedures

Options for certain conditions caused by cystic fibrosis include:

    Nasal and sinus

    surgery.

    Your doctor may recommend surgery to remove nasal polyps that obstruct breathing. Sinus surgery may be done to treat recurrent or chronic sinusitis.
    Oxygen therapy. If your blood oxygen level declines, your doctor may recommend that you breathe pure oxygen to prevent high blood pressure in the lungs (pulmonary hypertension).
    Noninvasive ventilation. Typically used while sleeping, noninvasive ventilation uses a nose or mouth mask

    to provide positive pressure in the airway and lungs when you breathe in. It’s often used in combination with oxygen therapy. Noninvasive ventilation can increase air exchange in the lungs and decrease the work of breathing. The treatment may also help with airway clearance.

    Feeding tube. Cystic fibrosis interferes with digestion, so you can’t absorb nutrients from food very well. Your doctor may suggest using a feeding tube to deliver extra nutrition. This tube may be a

    temporary tube inserted into your nose and guided to your stomach, or the tube may be surgically implanted in the abdomen. The tube can be used to give extra calories during the day or night and does not prevent eating by mouth.

    Bowel surgery. If a blockage develops in your bowel, you may need surgery to remove it. Intussusception, where a segment of intestine has telescoped inside an adjacent section of intestine, also may require surgical repair.

    Lung

    transplant. If you have severe breathing problems, life-threatening lung complications or increasing resistance to antibiotics for lung infections, lung transplantation may be an option. Because bacteria line the airways in diseases that cause permanent widening of the large airways (bronchiectasis), such as cystic fibrosis, both lungs need to be replaced.

    Cystic fibrosis does not recur in transplanted lungs. However, other complications associated with

    CF — such as sinus infections, diabetes, pancreas conditions and osteoporosis — can still occur after a lung transplant.

    Liver transplant. For severe cystic fibrosis-related liver disease, such as cirrhosis, liver transplant may be an option. In some people, a liver transplant may be combined with lung or pancreas transplants.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Lifestyle and home remedies

You can manage your condition and minimize complications in several ways.

Pay attention to nutrition and fluid intake

Cystic fibrosis can cause malnourishment because the enzymes needed for digestion can’t reach your small intestine, preventing food from being absorbed. People with CF may need a much higher number of calories daily than do people without the condition.

A healthy diet is important to growth and development and to maintain good lung function. It’s also important to drink lots of fluids, which can

help thin the mucus in your lungs. You may work with a dietitian to develop a nutrition plan.

Your doctor may recommend:

    Pancreatic enzyme capsules with every meal and snack
    Medications to suppress acid production
    Supplemental high-calorie nutrition
    Special fat-soluble vitamins
    Extra fiber to prevent intestinal blockage
    Extra salt, especially during hot weather or before exercising
    Adequate water intake, especially during hot

    weather

Keep vaccinations up to date

In addition to receiving other usual childhood vaccines, people with cystic fibrosis should have the annual flu vaccine and any other vaccines their doctors recommend, such as the vaccine to prevent pneumonia. CF doesn’t affect the immune system, but children with CF are more likely to develop complications when they become sick.

Exercise

Regular

exercise helps loosen mucus in your airways and strengthens your heart. Because people with cystic fibrosis are living longer, maintaining good cardiovascular fitness for a healthy life is important. Anything that gets you moving, including walking and biking, can help.

Eliminate smoke

Don’t smoke, and don’t allow other people to smoke around you or your child. Secondhand smoke is harmful for everyone, but especially for people with cystic fibrosis, as is air pollution.

Encourage

hand-washing

Teach all the members of your family to wash their hands thoroughly before eating, after using the bathroom, when coming home from work or school, and after being around a person who is sick. Hand-washing is the best way to protect against infection.

Attend medical appointments

You’ll have ongoing care from your doctor and other medical professionals.

Coping and tư vấn

If you or someone you love has cystic fibrosis, you may experience strong emotions such as depression, anxiety, anger or fear. These issues may be especially common in teens. These tips may help.

    Find tư vấn. Talking openly about how you feel can help. It also may help to talk with others

    who are dealing with the same issues. That might mean joining a tư vấn group for yourself, or finding a tư vấn group for parents of children with cystic fibrosis. Older children with CF may want to join a CF group to meet and talk with others who have the disorder.

    Seek professional help. If you or your child is depressed or anxious, it may help to meet with a mental health professional. He or

    she can talk with you about feelings and coping strategies, and may suggest medications or other treatments as well.

    Spend time with friends and family. Having their tư vấn can help you manage stress and reduce anxiety. Ask your friends or family for help if you need it.
    Take time to learn about cystic fibrosis. If your child has cystic fibrosis, encourage him or her to learn about CF. Find out how medical

    care is managed for children with CF as they grow older and reach adulthood. Talk with your doctor if you have questions about care.

Preparing for your appointment

Make an appointment with your doctor if you or your child has signs or symptoms common to cystic fibrosis. After the initial evaluation, you may be referred to a doctor trained in evaluating and treating CF.

Here’s some information to

help you prepare for your appointment, as well as what to expect from your doctor.

What you can do

You may want to prepare answers to these questions:

    What symptoms are you or your child experiencing?
    When did the symptoms start?
    Does anything make the symptoms better or worse?
    Has anyone in your family ever had cystic fibrosis?
    Has growth been normal and weight been stable?

What to expect from your doctor

After getting

detailed information about the symptoms and your family’s medical history, your doctor may order tests to help with diagnosis and plan treatment.

Nov. 23, 2022

What are nursing interventions for cystic fibrosis?

Nursing care plan for clients with cystic fibrosis includes maintaining adequate oxygenation, promoting measures to remove pulmonary secretions, emphasizing the importance of adequate fluid and dietary intake, ensuring adequate nutrition, and preventing complications.

Which is the best explanation for the nurse to provide to the student?

Which is the best explanation for the nurse to provide to the student? Standards of care are published statements that describe the level of care that the client can expect from nurses. Standards of care are set by professional associations and describe the level of care that can be expected from nurses.

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