Archive | May 2024

QUOTE FOR FRIDAY:

“Doctors will diagnose cancers of the brain or central nervous system in about 25,400 people in the United States in 2024, according to the National Cancer Institute. These cancers make up a portion of the more than 94,000 brain tumors (including benign tumors) that will occur in this country in 2024.

There are many types of brain and spinal cord tumors. The tumors result from the abnormal growth of cells and may be either benign or malignant. Benign brain and spinal cord tumors grow and press on nearby areas of the brain. Normally, they rarely spread into other tissues.

Malignant brain and spinal cord tumors are likely to grow quickly and spread into other brain tissue.

Unfortunately, when a tumor grows into or presses on an area of the brain, it may stop that part of the brain from functioning normally. Both benign and malignant brain tumors produce signs and symptoms and need treatment.

Tumors that start in the brain are called primary brain tumors. Primary brain tumors may spread to other parts of the brain or to the spine. But they rarely spread to other parts of the body.

Many tumors found in the brain actually started somewhere else in the body and spread to the brain later after found intially with cancer somewhere else in the body. These are called metastatic brain tumors, and they are more common than primary brain tumors. In fact, about half of metastatic brain tumors are from lung cancer. Even after these tumors spread to the brain, they are still called lung cancer, or wherever they originated.”.

American Association of Cancer Research (https://www.aacr.org/patients-caregivers/awareness-months/may-is-brain-cancer-awareness-month/)

QUOTE FOR THURSDAY:

“Ehlers Danlos syndrome (EDS) is a group of hereditary connective tissue disorders that manifests clinically with skin hyperelasticity, hypermobility of joints, atrophic scarring, and fragility of blood vessels. It is largely diagnosed clinically, although identifying the gene encoding the collagen or proteins interacting with it is necessary to identify the type of EDS. Identifying the type of EDS to guide management and counseling is important. In 2017, a new international classification of EDS was proposed with 13 different variants. This syndrome is heterogeneous and has been classified into six types (classical, vascular, hypermobile, arthrochalasis, kyphoscoliotic, and dermatosparaxis), with the causative collagen pathology being different for each type.

The pathophysiology of most Ehlers Danlos syndrome subtypes involves heritable mutations in collagen synthesis and/or processing. The inheritance pattern of these mutations is variable, including autosomal dominant and recessive inheritance involving different mutations; however, it is worth noting that there are reports of spontaneous mutations causing identical genotypes and phenotypes. The collagen affected by these mutations is integral to every body system, from the skin to the integrity of the vasculature, and as such, the symptoms of the disease can be variable and widespread.

The skin is usually white in color and soft to the touch, and underlying vessels can become apparent. The skin has a doughy feel and is easily hyperextensible. It is easily stretchable and immediately returns to its original state after release. Molluscoid pseudotumors are small, spongy outgrowths observed over scars and pressure points. They are commonly found in patients with type I EDS.

Smaller, deep, and movable nodules are often palpable in the subcutaneous tissue. They can be observed in the arms and over the tibia. Radiography may reveal calcification. The fragility of dermal skin with frequent bruises and lacerations is common. The joints are hyperextensible, but the degree of involvement varies. The digital joints are most commonly influenced, but alterations can be present in all the joints.”

National Library of Medicine-NIH (https://www.ncbi.nlm.nih.gov/books/NBK549814/)

 

 

Month Awareness on Ehlers-Danlos syndrome-What it is, the symptoms, causes, complications, prevention and treatments!

each pt varies in intensity

 

 

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.

People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn’t strong enough to hold them.

A more severe form of the disorder, called vascular Ehlers-Danlos syndrome, can cause the walls of your blood vessels, intestines or uterus to rupture. Because vascular Ehlers-Danlos syndrome can have serious potential complications in pregnancy, you may want to talk to a genetic counselor before starting a family.

Symptoms of Ehlers-Danlos syndrome:

There are many different types of Ehlers-Danlos syndrome, but the most common signs and symptoms include:

  • Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Joint pain and dislocations are common.
  • Stretchy skin. Weakened connective tissue allows your skin to stretch much more than usual. You may be able to pull a pinch of skin up away from your flesh, but it will snap right back into place when you let go. Your skin might also feel exceptionally soft and velvety.
  • Fragile skin. Damaged skin often doesn’t heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly.

Symptom severity can vary from person to person and depends on the specific type of Ehlers-Danlos syndrome that you have. The most common type is called hypermobile Ehlers-Danlos syndrome.

Vascular Ehlers-Danlos syndrome

People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.

Vascular Ehlers-Danlos syndrome can weaken your heart’s largest artery (aorta), as well as the arteries to other regions of your body. A rupture of any of these larger blood vessels can be fatal. The vascular type can also weaken the walls of the uterus or large intestines — which also may rupture.

Causes:

Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child. If you have the most common form, hypermobile Ehlers-Danlos syndrome, there’s a 50% chance that you’ll pass on the gene to each of your children.

Complications:

Complications depend on the types of signs and symptoms you have. For example, overly flexible joints can result in joint dislocations and early-onset arthritis. Fragile skin may develop prominent scarring.

People who have vascular Ehlers-Danlos syndrome are at risk of often fatal ruptures of major blood vessels. Some organs, such as the uterus and intestines, also may rupture. Pregnancy can increase the risk of a rupture in the uterus.

Prevention:

If you have a personal or family history of Ehlers-Danlos syndrome and you’re thinking about starting a family, you may benefit from talking to a genetic counselor — a health care professional trained to assess the risk of inherited disorders. Genetic counseling can help you understand the inheritance pattern of the type of Ehlers-Danlos syndrome that affects you and the risks it poses for your children.

Diagnosing Ehlers-Danlos syndrome:

Diagnosing rests on the criteria, physical examination, and quite often an extensive detailed family history by the M.D.  Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems. For hypermobile Ehlers-Danlos syndrome, the most common form, there is no genetic testing available.

Treatments:

Unfortunately there is no cure for Ehlers-Danlos syndrome, but treatment can help you manage your symptoms and prevent further complications through the following:

Medications

Your doctor may prescribe drugs to help you control:

  • Pain. Over-the-counter pain relievers — such as acetaminophen (Tylenol, others) ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve) — are the mainstay of treatment. Stronger medications are only prescribed for acute injuries.
  • Blood pressure. Because blood vessels are more fragile in some types of Ehlers-Danlos syndrome, your doctor may want to reduce the stress on the vessels by keeping your blood pressure low.

Physical therapy

Joints with weak connective tissue are more likely to dislocate. Exercises to strengthen the muscles and stabilize joints are the primary treatment for Ehlers-Danlos syndrome. Your physical therapist might also recommend specific braces to help prevent joint dislocations.

Surgical and other procedures

Surgery may be recommended to repair joints damaged by repeated dislocations, or to repair ruptured areas in blood vessels and organs. However, the surgical wounds may not heal properly because the stitches may tear through the fragile tissues.

QUOTE FOR WEDNESDAY:

“Diagnosing lupus is difficult because signs and symptoms vary considerably from person to person. Signs and symptoms of lupus may change over time and overlap with those of many other disorders.

No one test can diagnose lupus.

Treatment for lupus depends on your signs and symptoms. Determining whether you should be treated and what medications to use requires a careful discussion of the benefits and risks with your doctor.

As your signs and symptoms flare and subside, you and your doctor may find that you’ll need to change medications or dosages.

What you can do is before your appointment, you may want to write a list of answers to the following questions:

  • When did your symptoms begin? Do they come and go?
  • Does anything seem to trigger your symptoms?
  • Have your parents or siblings had lupus or other autoimmune disorders?”

MAYO CLINIC (https://www.mayoclinic.org/diseases-conditions/lupus/diagnosis-treatment/drc-20365790)

QUOTE FOR TUESDAY:

“Lupus is an unpredictable and misunderstood autoimmune disease. It is difficult to diagnose, hard to live with, and a challenge to treat. Lupus has a range of symptoms, and strikes without warning.

Lupus is a complicated disease that affects different people in different ways. For some, lupus can be mild — for others, it can be life threatening.

Right now, there’s no cure for lupus. The good news is that with the support of your doctors and loved ones, you can learn to manage it.

Lupus is a chronic (long-term) disease that can cause pain and inflammation in any part of the body.

Around 1.5 million people in the United States are living with lupus.

Lupus can cause a lot of different symptoms that come and go over time.

Living with lupus can be hard, but there’s a lot you can do to manage your symptoms and make your daily life easier.”

Lupus Foundation of America (https://www.lupus.org/understanding-lupus)

QUOTE FOR THE WEEKEND:

There have been many advances in CF treatment.

Antibiotics and Anti-inflammatories are used in treat for some with cystic fibrosis.

Antibiotics are frequently needed to treat bacteria that grow in the mucus. These can be given in one of three ways:

  • Orally or by mouth – this is the easiest and cheapest route.
  • By inhalation – this is more expensive but very effective.
  • Intravenously (IV) – this is usually reserved for those who are sicker.

Anti-inflammatory medications have also been found to be helpful in CF. Two medications are currently in use, azithromycin (an antibiotic that’s used as an anti-inflammatory agent in CF), and ibuprofen.

Managing cystic fibrosis is a must!

Regular check-ups with your doctor are needed as patients with CF will require constant monitoring and health management to control symptoms and prevent complications.

Your doctor may request that you receive some other tests depending on your condition. Common tests include blood tests, bone mineral density tests, glucose monitoring, pancreas functionality test, and respiratory cultures. Ultrasounds, chest CTs or X-rays, colonoscopy and a lung biopsy may be needed in some situations.

In addition to doctor visits, lifestyle changes can help manage symptoms. Practicing good hygiene and receiving all recommended vaccines can prevent patients with CF from getting an infection which in turn could lead to more severe complications. To maintain a healthy weight many patients with CF follow healthy, high-calorie, high-sodium diets. Physical activity is also encouraged to help improve and maintain lung function.

Most importantly all patients with CF need to continue treatments, including medicines, supplements, and daily airway clearance techniques as directed by their physicians. Your physician should also be alerted immediately to any complications so that they can provide supplemental medication to help the immune system fight off infection as quickly as possible.”

American Heart Association (https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis/treating-and-managing)

 

Part III Cystic Fibrosis Awareness Month – Lung Replacement and how far medical advances have taken us!

Cystic Fibrosis has advanced with medical treatments and advocacy by patient groups such as the Cystic Fibrosis Foundation (CFF).

Prior to the 1950s, children with the most common and most serious forms of cystic fibrosis rarely lived past age 5. In the 1950s and 1960s pancreatic enzymes, airway clearance techniques, and antistaphylococcal antibiotics were introduced as treatments and CF life expectancy began to increase.

In the 1960s, average life expectancy grew to age 15 as antipseudomonal antibiotics were added to the treatment arsenal. Also, the first woman known to have CF had a successful pregnancy. Between the 1970s and 1990s, life expectancy gradually increased to age 31, thanks to still more treatments, including lung transplants and DNase.

Then, between 1993 and 2017, median life expectancy leapt to age 44. This means that among those born with CF in the U.S. between 2013 and 2017, half are predicted to live to age 44 or more.

According to the CFF’s Patient Registry, children with CF grow up to lead full, productive lives despite their disease. In 2017, the registry found that:

  • 51 percent of adults with CF work in full- or part-time jobs
  • 42 percent of adults with CF are married or living together
  • 31 percent of adults with CF earned a college degree

Thanks to advances in DNA testing, doctors are identifying more and more people with CF for the first time well into their 50s, 60s, and 70s.

The oldest person diagnosed with CF for the first time in the U.S. was 82, in Ireland was 76, and in the United Kingdom was 79.

Lung transplantation is a process in which you and the family and friends who make up your social support team will need to make thoughtful decisions throughout many phases. These decisions will affect you and your social support team medically, logistically, financially, socially, and emotionally. Starting the conversation early will give you more time to plan ahead by:

  • Getting the help you need to work on anything that could prevent you from being a candidate for transplant.
  • Making it easier for you and your family to make informed decisions.
  • Securing the necessary financial resources while you are still well enough to do so.

Know this:

Does a lung transplant cure cystic fibrosis? No. Cystic fibrosis is a genetic condition so even though the transplanted lungs will not have CF and will never develop it, the rest of the person’s body will continue to have cystic fibrosis.

People can live for 5, 10, or even 20 years after having one. About 87 percent of CF patients who receive lung transplants will live another year. Close to 50 percent of those who receive a lung transplant will survive for an extra 9 years says cysticfibrosis.com.

QUOTE FOR FRIDAY:

“On average, people with CF live into their mid to late 30s. But new treatments are increasing life expectancy.

CF affects several organ systems, including: Respiratory system, Digestive system and the Reproductive system.

Some people carry the CF gene without being affected by the disease. They often don’t know that they are carriers.Cystic fibrosis is inherited. A person with CF had both parents pass the changed gene to them. The birth of a child with CF is often a total surprise to a family. Most of the time there is no family history of CF. Caucasian people are more likely to have CF than people of African, Asian, or Hispanic ancestry.

There is currently no cure for CF. Scientists are investigating gene therapy. Some patients with advanced disease may be considered for surgeries like lung and pancreas transplant.

Goals of treatment are to ease symptoms, prevent and treat complications, and slow the progress of the disease.Treatment generally focuses on the following 2 areas.  Managing lung and digestive problems”.

MAYO CLINIC (https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700)

 

Part II Cystic Fibrosis Awareness Month-review of it with how it effects respiratory/GI/reproductive systems, & more!

 

 

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.