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Juvenile Polyposis Syndrome: What You Need To Know
Inheritance Pattern of JPS
Juvenile polyposis syndrome (JPS) is often inherited. This means it can be passed down from parents to children. It follows what's called an "autosomal dominant" pattern.
In this autosomal dominant pattern, you only need one copy of the altered gene to have the condition. You get two copies of each gene - one from your mom and one from your dad. So, if just one parent has JPS, there's a 50% chance their child could inherit it too.
However, not everyone with JPS inherits it from a parent. Sometimes, the mutation happens for the first time in an individual person. Doctors call this a "de novo" mutation.
Remember though that having JPS does not mean you'll definitely develop polyps or cancer. But your risk is higher than average.
Preimplantation Genetic Diagnosis (PGD)
Preimplantation Genetic Diagnosis (PGD) is a medical procedure. It's done before implanting an embryo in the uterus during In-Vitro Fertilization (IVF). Doctors examine embryos for genetic defects. The goal: avoid passing on certain genetic diseases to children.
It starts with IVF. Eggs are retrieved from a woman's ovaries, then fertilized in a lab. Embryos develop for 3-5 days. Then, doctors remove some cells from each embryo for testing.
These tests look at the genes or chromosomes of embryos. They can identify many different genetic conditions such as Down syndrome or cystic fibrosis. After testing, only healthy embryos get transferred to the womb.
Remember, PGD isn't perfect—it doesn't guarantee pregnancy or catch all diseases—but it helps reduce risks significantly.
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JPS: Prevalence and Diagnosis
Juvenile polyposis syndrome (JPS) is a rare condition. It affects about 1 in 100,000 individuals worldwide. JPS causes polyps to grow in the gastrointestinal tract during childhood and adolescence.
Diagnosing JPS involves two steps: medical history review and testing. Doctors first take a detailed family and personal medical history. They look for patterns of early-onset polyps or cancer in the family. Next comes endoscopic examination. This procedure allows doctors to view your internal organs directly. Polyps found are then tested for genetic mutations associated with JPS.
It's important to remember, having polyps doesn't mean you have JPS automatically. Many people develop noncancerous polyps as they age without ever developing this syndrome.
Other Risks Associated with JPS
Juvenile Polyposis Syndrome (JPS) carries other risks. Aside from polyps, you can face several complications. These include a higher risk of cancer and bleeding.
Cancer Risk: JPS increases the chances of colorectal cancer. This is a concern for many patients with this condition. The lifetime risk ranges between 39% to 68%. It's crucial to have regular screenings.
Bleeding: Polyps in your digestive tract may bleed. You might notice blood in your stool, or become anemic over time due to slow chronic bleeding. Anemia means your body lacks enough healthy red blood cells to carry oxygen effectively.
In conclusion, while dealing with JPS focuses on managing polyps, it’s vital not to overlook these associated risks as well — particularly the elevated chances of developing colorectal cancer and the possibility of internal bleeding leading to anemia.
Additional Resources
Additional Resources
There are many resources available to aid you in understanding clinical trials. ClinicalTrials.gov is a key resource. It hosts a database of publicly and privately funded clinical trials conducted around the world. You can search by disease or condition, trial status, location and more.
Educational websites like MedlinePlus provide user-friendly information about health topics. They explain medical terms in plain language. Websites operated by patient advocacy groups often have links to relevant clinical trials too.
Books can be helpful as well. Titles such as "The Patient's Guide To Clinical Trials" offer comprehensive overviews of what to expect when participating in a trial.
Remember: research is power! Use these resources wisely and become an informed participant in your own healthcare journey.