“Changes to the CFTR gene — called variants or mutations — cause cystic fibrosis. CFTR makes a protein that works as an ion channel on the surface of a cell. Ion channels are like gates in a cell’s membrane that allow certain molecules to pass through.

CFTR usually makes a gate for chloride ions, a type of mineral with a negative electrical charge. Chloride moves out of the cell, taking water with it, which thins out mucus and makes it more slippery. In people with CF, gene mutations in CFTR prevent this from happening, so the mucus stays sticky and thick.

There are different categories (classes I to VI) of gene mutation in CFTR that depend on the effect they have. Some produce no proteins at all, some produce only small amounts of proteins, and some produce proteins that don’t work properly.

Are you born with cystic fibrosis?

Yes, cystic fibrosis is a genetic condition that you’re born with. People who have CF inherit two mutated CFTR genes, one from each biological parent (it’s inherited in an autosomal recessive manner). “

Cleveland Clinic (Cystic Fibrosis: Causes, Symptoms & Treatment)

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?

“Tourette syndrome is a neurological (nervous system) tic disorder. It causes people to make sudden movements or sounds they can’t control. These are called tics. For example, someone with Tourette’s might blink or clear their throat over and over again. Some people may blurt out words they don’t intend to say (being just a noise or even a offensive word).

Some treatments may help control tics, but some people don’t need to take medications unless their symptoms bother them.

About 100,000 Americans have full-blown Tourette syndrome, but more people have a milder form of the disease. It often starts in childhood and affects more boys than girls. Symptoms often get better as children grow up. For some people, they go away completely.

Tourette syndrome is also sometimes called Tourette’s  or Tourette disorder.”

Web M.D. (Tourette Syndrome: Causes, Symptoms, and Treatment)

Tourette (too-RET) syndrome is a disorder that involves repetitive movements or unwanted sounds (tics) that can’t be easily controlled. For instance, you might repeatedly blink your eyes, shrug your shoulders or blurt out unusual sounds or offensive words.

Tics typically show up between ages 2 and 15, with the average being around 6 years of age. Males are about three to four times more likely than females to develop Tourette syndrome.

Although there’s no cure for Tourette syndrome, treatments are available. Many people with Tourette syndrome don’t need treatment when symptoms aren’t troublesome. Tics often lessen or become controlled after the teen years.

SYMPTOMS:

Tics — sudden, brief, intermittent movements or sounds — are the hallmark sign of Tourette syndrome. They can range from mild to severe. Severe symptoms might significantly interfere with communication, daily functioning and quality of life.

Tics are classified as:

• Simple tics. These sudden, brief and repetitive tics involve a limited number of muscle groups.
• Complex tics. These distinct, coordinated patterns of movements involve several muscle groups.

Tics can also involve movement (motor tics) or sounds (vocal tics). Motor tics usually begin before vocal tics do. But the spectrum of tics that people experience is diverse.

In addition, tics can:

• Vary in type, frequency and severity
• Worsen if you’re ill, stressed, anxious, tired or excited
• Occur during sleep
• Change over time
• Worsen in the early teenage years and improve during the transition into adulthood

Before the onset of motor or vocal tics, you’ll likely experience an uncomfortable bodily sensation (premonitory urge) such as an itch, a tingle or tension. Expression of the tic brings relief. With great effort, some people with Tourette syndrome can temporarily stop or hold back a tic.

See your child’s pediatrician if you notice your child displaying involuntary movements or sounds.

Not all tics indicate Tourette syndrome. Many children develop tics that go away on their own after a few weeks or months. But whenever a child shows unusual behavior, it’s important to identify the cause and rule out serious health problems.

“Bladder cancer is categorized by a number of types, depending on where exactly it forms, along with other factors. The most common type of bladder cancer is transitional cell (urothelial) carcinoma (TCC). This type accounts for about 95 percent of bladder cancers. Cancer cells of this type look like the urothelial cells lining the inside of the bladder.”

The City of Hope (Types of Bladder Cancer: Common, Rare and More)

The differences between UTUC, Small cell carcinoma, squamous cell carcinoma, adenocarcinoma, and NMIBC and Urothelial Carcinoma of the Bladder are as follows:

• UTUC (Urothelial Carcinoma of the Ureter): Develops in mesoderm-derived epithelium and has lymphatic drainage patterns that vary by anatomical location.
• Small cell carcinoma: Has oat-grain shaped cells and is found in cancers like lung, prostate, and pancreatic neuroendocrine tumors.
• Squamous cell carcinoma: Cells look flat and are often arranged like tiles on a floor.
• Adenocarcinoma: Arises from glandular cells and is found in organs like the lungs, breast, and colon.
• NMIBC (Non-Malignant Invasive Bladder Carcinoma): A precursor lesion that is not yet malignant but may progress to bladder cancer.

NMIBC and Urothelial Carcinoma of the Bladder

About 9 out of 10 bladder cancers are urothelial carcinoma (also called transitional cell carcinoma). They start in the cells on the surface of the bladder’s inner linings. Most urothelial carcinomas are a form of non-muscle invasive bladder cancer (NMIBC). That means the tumor stays within the bladder’s inner lining.

Urothelial carcinoma also has rarer subtypes, called variants. Each one has a different treatment. We identify the variant based on how the cells look under a microscope. The variants are called:

• Plasmacytoid
• Nested
• Micropapillary
• Lipoid cell
• Sarcomatoid
• Microcystic
• Lymphoepithelioma-like
• Inverted papilloma-like
• Clear cell

Cancer occurs when cells in the bladder start to grow out of control. Most tumours develop on the inner layer of the bladder. Some can grow into the deeper bladder layers. As cancer grows through these layers into the wall, it becomes harder to treat. The lining, where tumours initiate, is also found in the inner layers of the kidneys, ureters, and urethra. So, similar cancers can occur in these areas, though much less frequently.

Three types of bladder cancer may form, and each type of tumor can be present in one or more areas of the bladder, and more than one type can be present at the same time:

• Papillary tumors stick out from the bladder lining on a stalk. They tend to grow into the bladder cavity, away from the bladder wall, instead of deeper into the layers of the bladder wall.
• Sessile tumors lie flat against the bladder lining. Sessile tumors are much more likely than papillary tumors to grow deeper into the layers of the bladder wall.
• Carcinoma in situ (CIS) is a cancerous patch of bladder lining, often referred to as a “flat tumor.” The patch may look almost normal or may look red and inflamed. CIS is a type of nonmuscle-invasive bladder cancer that is of higher grade and increases the risk of recurrence and progression. At diagnosis, approximately 10% of patients with bladder cancer present with CIS.

While the majority of bladder cancers (approximately 90-95%) arise in the bladder, the urothelial cells that line the bladder are found in other locations in the urinary system. Sometimes these urothelial cancers can occur in the lining of the kidney or in the ureter that connects the kidney to the bladder. This is known as upper tract urothelial cancer (UTUC) correspond to a subset of urothelial cancers that arise in the urothelial cells in the lining of the kidney (called the renal pelvis) or the ureter (the long, thin tube that connects that kidney to the bladder).

Upper Tract Urothelial Carcinoma, or UTUC, is urothelial carcinoma that occurs in the renal pelvis or ureter(s). Approximately 5-7% of urothelial cancer can occur in the inner lining of the kidney, called the calyx and renal pelvis. It could also occur in one or both of the ureter(s), tubes that lead from each of your kidneys to the bladder.

Types of urothelial carcinoma:

• Non-invasive: More than half the people have this type, where the cancer remains in the urothelial cells that line the renal pelvis or ureters.
• Invasive: the rest have this type, where the cancer has grown beyond those urothelial cells. Or it may have spread to other parts of the body.

Just as with bladder cancer, UTUC tumors can be low grade or high grade. The grade of the UTUC is important to know as you and your doctor choose the best treatment for your cancer. The grade of the tumor is determined by a pathologist who examines the cells under a microscope. Doctors may also use imaging studies to help them stage UTUC.

• Low grade UTUC: In low grade UTUC, the tumors are typically noninvasive and are less aggressive.
• High grade UTUC: High grade UTUC can be more aggressive. It may spread to other parts of your urinary tract, or to other parts of your body.

Ask your doctor to explain the details about your diagnosis and pathology report.

Understanding your UTUC combined with your overall health, will help your doctor recommend the best treatment options for your cancer.

Urothelial carcinoma (yoo-REE-thrul KAR-sih-NOH-muh) is by far the most common type of bladder cancer in the United States. Others are rarer. This section has information on some of these rarer types. Some rare bladder cancers are more common outside of the United States.

Squamous Cell Carcinoma of the Bladder

This cancer begins in the thin, flat squamous cells that can form in the bladder after chronic inflammation (swelling) and infection. It’s most often found in areas, such as the Middle East, where a parasitic infection called schistosomiasis is common. In North America and Europe, squamous cell carcinoma is the second most common bladder cancer. It accounts for about 5 out of every 100 cases.

Adenocarcinoma of the Bladder

This rare form of bladder cancer accounts for about 1 out of every 100 cases of the disease. denocarcinoma (A-deh-noh- KAR-sih-NOH-muh) can be caused by certain bladder problems you’re born with. It’s also caused by chronic infection and inflammation.

Small Cell Carcinoma of the Bladder

This form of the disease can spread very quickly. It’s often, but not always, found at an advanced stage, after it has metastasized (spread). Small cell bladder cancers usually need a combination of treatments, including chemotherapy, surgery, and radiation therapy.

Small cell carcinoma starts in small, nerve-like cells in the bladder called neuroendocrine (NOOR-oh-EN-doh-krin) cells. It makes up about 1 out of every 100 cases of bladder cancers.

Facts on Bladder Cancer:

• “In the U.S., about 53,000 men are diagnosed annually, with over 10,000 deaths each year
• It is the fourth most common internal malignancy in American men and one of the top 10 deadliest cancers
• The CDC estimates 85,000 new cases and 16,840 deaths in the U.S. each year
• It is the sixth most common cancer overall in the U.S.”

Harvard Health Publishing (Bladder Cancer: Men at Risk – Harvard Health Publications – Harvard Health)

Prevention of bladder cancer:

Although there’s no guaranteed way to prevent bladder cancer, you can take steps to help reduce your risk. For instance:

• Don’t smoke. If you don’t smoke, don’t start. If you smoke, talk to your doctor about a plan to help you stop. Support groups, medications and other methods may help you quit.
• Take caution around chemicals. If you work with chemicals, follow all safety instructions to avoid exposure.
• Choose a variety of fruits and vegetables. Choose a diet rich in a variety of colorful fruits and vegetables. The antioxidants in fruits and vegetables may help reduce your risk of cancer.

How bladder cancer is diagnosed could include the following:

• Using a scope to examine the inside of your bladder (cystoscopy). To perform cystoscopy, your doctor inserts a small, narrow tube (cystoscope) through your urethra. The cystoscope has a lens that allows your doctor to see the inside of your urethra and bladder, to examine these structures for signs of disease. Cystoscopy can be done in a doctor’s office or in the hospital.
• Removing a sample of tissue for testing (biopsy). During cystoscopy, your doctor may pass a special tool through the scope and into your bladder to collect a cell sample (biopsy) for testing. This procedure is sometimes called transurethral resection of bladder tumor (TURBT). TURBT can also be used to treat bladder cancer.
• Examining a urine sample (urine cytology). A sample of your urine is analyzed under a microscope to check for cancer cells in a procedure called urine cytology.
• Imaging tests. Imaging tests, such as computerized tomography (CT) urogram or retrograde pyelogram, allow your doctor to examine the structures of your urinary tract.During a CT urogram, a contrast dye injected into a vein in your hand eventually flows into your kidneys, ureters and bladder. X-ray images taken during the test provide a detailed view of your urinary tract and help your doctor identify any areas that might be cancer.Retrograde pyelogram is an X-ray exam used to get a detailed look at the upper urinary tract. During this test, your doctor threads a thin tube (catheter) through your urethra and into your bladder to inject contrast dye into your ureters. The dye then flows into your kidneys while X-ray images are captured.

Determining the extent of the cancer

After confirming that you have bladder cancer, your doctor may recommend additional tests to determine whether your cancer has spread to your lymph nodes or to other areas of your body.

Tests may include:

• CT scan
• Magnetic resonance imaging (MRI)
• Positron emission tomography (PET)
• Bone scan
• Chest X-ray

Staging of Bladder Cancer:

Your doctor uses these diagnostic tests listed above for information from these procedures to assign your cancer a stage.

The stages of bladder cancer are indicated by Roman numerals ranging from 0 to IV. The lowest stages indicate a cancer that’s confined to the inner layers of the bladder and that hasn’t grown to affect the muscular bladder wall. The highest stage — stage IV — indicates cancer that has spread to lymph nodes or organs in distant areas of the body, like a lot of other cancers are staged I through IV.

Treatments of bladder cancer:

If cancer invades the muscles of the bladder, doctors will usually treat it with chemotherapy to shrink the tumor, followed by surgery to remove the bladder. However, a recent clinical trial found that adding immunotherapy to chemotherapy may allow certain patients to avoid surgery.

Bladder cancer treatment may include: Surgery, to remove the cancer cells. Chemotherapy in the bladder (intravesical chemotherapy), to treat cancers that are confined to the lining of the bladder but have a high risk of recurrence or progression to a higher stage.

Approaches to bladder cancer surgery might be used could include:

• Transurethral resection of bladder tumor (TURBT). TURBT is a procedure to diagnose bladder cancer and to remove cancers confined to the inner layers of the bladder — those that aren’t yet muscle-invasive cancers. During the procedure, a surgeon passes an electric wire loop through a cystoscope and into the bladder. The electric current in the wire is used to cut away or burn away the cancer. Alternatively, a high-energy laser may be used.Because doctors perform the procedure through the urethra, you won’t have any cuts (incisions) in your abdomen.As part of the TURBT procedure, your doctor may recommend a one-time injection of cancer-killing medication (chemotherapy) into your bladder to destroy any remaining cancer cells and to prevent cancer from coming back. The medication remains in your bladder for a period of time and then is drained.
• Cystectomy. Cystectomy is surgery to remove all or part of the bladder. During a partial cystectomy, your surgeon removes only the portion of the bladder that contains a single cancerous tumor.A radical cystectomy is an operation to remove the entire bladder and the surrounding lymph nodes. In men, radical cystectomy typically includes removal of the prostate and seminal vesicles. In women, radical cystectomy may involve removal of the uterus, ovaries and part of the vagina.Radical cystectomy can be performed through an incision on the lower portion of the belly or with multiple small incisions using robotic surgery. During robotic surgery, the surgeon sits at a nearby console and uses hand controls to precisely move robotic surgical instruments.
• Neobladder reconstruction. After a radical cystectomy, your surgeon must create a new way for urine to leave your body (urinary diversion). One option for urinary diversion is neobladder reconstruction. Your surgeon creates a sphere-shaped reservoir out of a piece of your intestine. This reservoir, often called a neobladder, sits inside your body and is attached to your urethra. The neobladder allows most people to urinate normally. A small number of people difficulty emptying the neobladder and may need to use a catheter periodically to drain all the urine from the neobladder.
• Ileal conduit. For this type of urinary diversion, your surgeon creates a tube (ileal conduit) using a piece of your intestine. The tube runs from your ureters, which drain your kidneys, to the outside of your body, where urine empties into a pouch (urostomy bag) you wear on your abdomen.
• Continent urinary reservoir. During this type of urinary diversion procedure, your surgeon uses a section of intestine to create a small pouch (reservoir) to hold urine, located inside your body. You drain urine from the reservoir through an opening in your abdomen using a catheter a few times each day.

Chemotherapy drugs can be given:

• 1-Through a vein (intravenously). Intravenous chemotherapy is frequently used before bladder removal surgery to increase the chances of curing the cancer. Chemotherapy is going in your system generally through the blood stream and chemo may also be used to kill cancer cells that might remain after surgery. In certain situations, chemotherapy may be combined with radiation therapy.
• 2-Directly into the bladder (intravesical therapy). During intravesical chemotherapy, a tube is passed through your urethra directly to your bladder. The chemotherapy is placed in the bladder for a set period of time before being drained. It can be used as the primary treatment for superficial bladder cancer, where the cancer cells affect only the lining of the bladder and not the deeper muscle tissue.

Radiation therapy:

Radiation therapy uses beams of powerful energy, such as X-rays and protons, to destroy the cancer cells. Radiation therapy for bladder cancer usually is delivered from a machine that moves around your body, directing the energy beams to precise points.

Radiation therapy is sometimes combined with chemotherapy to treat bladder cancer in certain situations, such as when surgery isn’t an option or isn’t desired at that time or ever depending on your stage of cancer.

Immunotherapy:

Immunotherapy is a drug treatment that helps your immune system to fight cancer.

Immunotherapy can be given:

• Directly into the bladder (intravesical therapy). Intravesical immunotherapy might be recommended after TURBT for small bladder cancers that haven’t grown into the deeper muscle layers of the bladder. This treatment uses bacillus Calmette-Guerin (BCG), which was developed as a vaccine used to protect against tuberculosis. BCG causes an immune system reaction that directs germ-fighting cells to the bladder.
• Through a vein (intravenously). Immunotherapy can be given intravenously for bladder cancer that’s advanced or that comes back after initial treatment. Several immunotherapy drugs are available. These drugs help your immune system identify and fight the cancer cells.

Targeted therapy:

Targeted therapy drugs focus on specific weaknesses present within cancer cells. By targeting these weaknesses, targeted drug treatments can cause cancer cells to die. Your cancer cells may be tested to see if targeted therapy is likely to be effective.

Targeted therapy may be an option for treating advanced bladder cancer when other treatments haven’t helped.

Bladder preservation:

In certain situations, people with muscle-invasive bladder cancer who don’t want to undergo surgery to remove the bladder may consider trying a combination of treatments instead. Known as trimodality therapy, this approach combines TURBT, chemotherapy and radiation therapy.

First, your surgeon performs a TURBT procedure to remove as much of the cancer as possible from your bladder while preserving bladder function. After TURBT, you undergo a regimen of chemotherapy along with radiation therapy.

If, after trying trimodality therapy, not all of the cancer is gone or you have a recurrence of muscle-invasive cancer, your doctor may recommend a radical cystectomy.

After bladder cancer treatment:

Bladder cancer may recur, even after successful treatment. Because of this, people with bladder cancer need follow-up testing for years after successful treatment. What tests you’ll have and how often depends on your type of bladder cancer and how it was treated, among other factors.

In general, doctors recommend a test to examine the inside of your urethra and bladder (cystoscopy) every three to six months for the first few years after bladder cancer treatment. After a few years of surveillance without detecting cancer recurrence, you may need a cystoscopy exam only once a year. Your doctor may recommend other tests at regular intervals as well.

People with aggressive cancers may undergo more-frequent testing. Those with less aggressive cancers may undergo testing less often.

“Bladder cancer is the sixth most common type of cancer in the United States. In 2026, approximately 84,530 people are estimated to receive a diagnosis of bladder cancer, and some 17,870 people are expected to die from it, according to estimates by the Surveillance, Epidemiology, and End Results Program (SEER) of the National Cancer Institute (NCI).

Bladder cancer is most likely to affect white men. In fact, the incidence rate of bladder cancer is four times higher among men than among women. It is also about twice as high in white males compared with Black, Hispanic, or Asian/Pacific Islander men.”

American Association for Cancer Research (May is Bladder Cancer Awareness Month | AACR)