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Genetic counseling can help you and your family make informed decisions about genetic testing. Genetic testing looks for changes in your DNA that can inform your medical care, per CDC.
Magnetic Resonance Enterography (MRE): The individual is given a contrast material for the production of detailed images of the small intestine. This is a great noninvasive mean without ionizing radiation. It offers images of the small bowel with the help of fluids which make the small bowel stand out. The procedure may also involve injection of special dye into the veins to highlight the blood vessels on the images.
MR Enteroclysis (MRI): No ionising radiation and diagnostic images acquired in the coronal plane at MR imaging represent an advantacce over the CT Enteroclysis technique. However inability to compress bowl in real time is a disadvantage.
Computed Tomography Enterography (CT Scan): Individual is given contrast materials for the production of high resolution images of the small intestine, abdomen and pelvis. Multiple images can be produced, even three dimensional images. These images provide more efficiency when compared with x-rays, especially images of internal organs, bones, soft tissues and blood vessels.
Positron Emission Tomography (PET Scan): Individual is given radioactive materials (Radiotracers) and PET scan uses nuclear medicine imaging to produce three dimensional picture of the functioning of the body. Detection of body changes at cellular level may detect the early onset of disease before it is evident on other imaging tests.
Video Capsule Endoscopy (VCE): Individual swallows this pill-camera while holding an electronic image recorder as the pill is passing through the GI tract. It is referred to as non-invasive screening procedure which covers the small intestines since upper GI endoscopy and colonoscopy have a tough time reaching and covering the small intestine areas. General anesthesia may not be necessary for those who can easily take the pill camera.
Double Balloon Enteroscopy (DBE): Enables the individual be able to screen the small intestine areas by doing DBE, which is a long endoscope advanced into the small intestine with inflation and deflation of balloons for the purposes of screening. The procedure must be done under general anesthesia.
Esophagogastroduodenoscopy (EGD): The individual could use EGD to check the lining of the esophagus, stomach and the beginning parts of the small intestine. This could be rather speedier procedure and it involves general anesthesia. Similar to DBE, the pros of EGD involve the ability to remove/operate during the procedure. Where as in the cases of VCE, MRE and alike, the actual removing will need to take place via a subsequent procedure under general anesthesia.
Colonoscopy: Screening Colonoscopy enables the individual to check rectum and colon areas. It is a long flexible tube that is inserted with a camera on one end. This too enables the operator to operate and remove without the need for a subsequent procedure. Similar to EGD, this too is generally undertaken via general anesthesia.
Upper Small Bowel Follow-Through (UGI): The individual ingests diluted liquid barium which enhances the X-ray images. The patient must then wait some time for this liquid to pass through so that the specialists can evaluate the small intestine's diameter, movement and abnormalities.
Ultrasound: While Ultrasonography may assist with variety of conditions affecting the organs and soft tissues of the body, it does have some limitations due to the inability to transmit sound waves through dense bone or body parts that hold air and gas, such as the bowel.
Stem Cell Research & Banking: Stem cells are being successfully used to cure and treat more than 29 genetic mutations! Many more mutations are now being researched using live stem cells from the humans affected, rather than mouse and fruit fly models alone. This tailored approach may exponentially speed up the process between in vitro lab studies and clinical application.
Dermatologists & Dentists: We are working to bring more awareness to these specialists, who are on the front lines and may detect subtle symptoms of PJS, such as mucocutaneous pigmentation, and alert patients/parents to seek proper diagnosis. This alone can lead to better prevention, earlier detection and less agressive treatment options.
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