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PKU was the first disorder to be routinely diagnosed through widespread newborn screening. Robert Guthrie introduced the newborn screening test for PKU in the early 1960s. [67] With the knowledge that PKU could be detected before symptoms were evident, and treatment initiated, screening was quickly adopted around the world.
Signs and symptoms of the most-common form of pancreatic cancer may include yellow skin, abdominal or back pain, unexplained weight loss, light-colored stools, dark urine, and loss of appetite. [1] Usually, no symptoms are seen in the disease's early stages, and symptoms that are specific enough to suggest pancreatic cancer typically do not ...
Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...
Depending on the level of obstruction, bowel obstruction can present with abdominal pain, abdominal distension, and constipation.Bowel obstruction may be complicated by dehydration and electrolyte abnormalities due to vomiting; respiratory compromise from pressure on the diaphragm by a distended abdomen, or aspiration of vomitus; bowel ischemia or perforation from prolonged distension or ...
Spinal cord injury and other neurological problems mostly affect the lower GI tract (i.e., jejunum, ileum, and colon) leading to symptoms of incontinence or constipation. However, the upper GI tract (i.e., esophagus, stomach, and duodenum) may also be affected and patients with NBD often present with multiple symptoms.
Constipation is more concerning when there is weight loss or anemia, blood is present in the stool, there is a history of inflammatory bowel disease or colon cancer in a person's family, or it is of new onset in someone who is older. [12] Treatment of constipation depends on the underlying cause and the duration that it has been present. [4]
Cancer pain treatment aims to relieve pain with minimal adverse treatment effects, allowing the person a good quality of life and level of function and a relatively painless death. [27] Though 80–90 percent of cancer pain can be eliminated or well controlled, nearly half of all people with cancer pain in the developed world and more than 80 ...
Fecal impaction is a common result of neurogenic bowel dysfunction and causes immense discomfort and pain. Its treatment includes laxatives, enemas, and pulsed irrigation evacuation (PIE) as well as digital removal. It is not a condition that resolves without direct treatment.
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