ARPKD Research Paper

The Diagnostic Sonography more commonly known as Ultrasound is a medical procedure in which you use high frequency sound waves to produce visual images of organs tissues or blood flow inside the body. Ultrasound is regularly known as the procedure used to examine women who are expecting. Although, Sonography is used in many different ways other than for expectant mothers. Sonography is also used to detect such things as heart disease, heart attacks, and vascular disease that can lead to stroke. (SDMS, 2010) Moreover, Sonography is also used to examine breasts, abdomens, female reproductive systems,

Another form of imaging is ultrasound. Ultrasound, which uses very high frequency sound, is directed into the body. And because the tissue interference's reflect sound, doctors are able to produce, by use of a computer, a photograph or moving image on a television. Ultrasound has many application uses on the body, but is more commonly used in examinations of the fetus during pregnancy, because use of radiation may affect the outcome of the baby. Some other practices for ultrasound include examination of the arteries, heart, pancreas, urinary system, ovaries, brain, and spinal cord. And because sound travels well through fluids it is a very useful technique for diagnosing cysts( which are filled with fluid), and fluid filled structures such as the bladder. And since sound is absorbed by air and bone it is impossible to use a ultrasound on bones or lungs.

Diagnostic medical sonography is a profession where sonographers direct high-frequency sound waves into a patient’s body through the use of specific equipment to diagnose or monitor a patient’s medical condition. As described by the Bureau of Labor Statistics, this examination is referred to as an ultrasound, sonogram, or echocardiogram. The high-frequency sound waves emitted from the handheld device, called a transducer, bounce back creating an echo and therefore produce an image that can be viewed on the sonographers computer screen. This image provides the sonographer and physician with an internal image of the patient’s body that will be used in the diagnosis. The most familiar use of ultrasound is used in monitoring pregnancies

1. What is the likelihood that any of their children (sons and/or daughters) will be born with the disorder?

Diagnostic medical sonography is a profession where sonographers direct high-frequency sound waves into a patient’s body through use of specific equipment to diagnose or monitor a patient’s medical condition. As described by the Bureau of Labor Statistics, this examination is referred to as an ultrasound, sonogram, or echocardiogram. The high-frequency sound waves emitted from the handheld device, called a transducer, bounce back creating an echo and therefore produce an image that can be viewed on the sonographers computer screen. This image provides the sonographer and physician with an internal image of the patient’s body that will be used in diagnosis. The most familiar use of ultrasound is used in monitoring pregnancies, and is

Abdominal Sonographers examine he abdominal cavity to diagnose and treat conditions relating to the gallbladder, kidneys, liver, pancreas, and spleen. They are able to scan areas of the chest although most issues with the heart are done by echocardiographers. Obstetric and Gynecologic Sonographers specialize in the female reproductive system and the development of the fetal. Breast sonographers study diseases of the breast and track tumors, bloody supply conditions and assist in the accuracy of the biopsy of breast tissue. Neurosongraphers main attention is the nervous system, including the brain. They also diagnose disorders that have to do with premature infants such as infants with sickle-cell

No, autosomal dominant disorders do not skip generations; they pass on through each generation. If parents have a child, their child will receive the same autosomal dominant disorders that the parents had. And the opposite, if the parent doesn’t have any autosomal dominant disorders, then the child won’t have any either. As well, on the pedigree chart, there is no example of myotonic dystrophy skipping generations.

Newborn screenings are done to identify infants with PKU. Each state in the United States differs with their screening process, but most of the screenings consists of blood tests. A few drops of blood are collected from the baby’s heel 24 hours after the baby is born. The blood sample is sent to the laboratory to test for metabolic disorders such as PKU. If there is an indication of PKU further tests are conducted like urine tests and more blood tests.

Specific blood tests also can be an accurate diagnostic tool. A kidney biopsy can also provide accurate results. Chest x-ray, ultrasound, and electrocardiogram can be effectively used (Stevens, 2009).

Diagnosis is made on the basis of an imaging modality, such as kidney-ureter-bladder (KUB) radiography, ultrasonography or computed tomography (CT). This may be further complemented with blood tests and urine plus stone analysis. Treatment

If a patient’s signs and symptoms suggest that he or she has acute renal failure the primary caregiver might suggest tests and procedures verify the diagnosis. Some of those tests include urine output measurements which would help the physician determine the cause of the kidney failure. Another test that could be taken is a urinalysis which may show abnormalities that suggest kidney failure. Having a blood test that shows rising levels of urea and creatinine which are also measured to kidney function. Different imaging tests such as ultrasound or computerized tomography (CT) may be used to help get a clearer image of your kidneys and see any abnormalities. Lastly your physician might suggest a kidney biopsy to remove a small sample of kidney tissue for lab testing. In chronic kidney disease there are 5 different stages. Patients in stages 1 through 3 are primarily seen by their physician while patients with stage 4 CKD will be treated at the Nephrology clinic until the illness progresses to stage 5. At stage 5 of renal failure the patient starts to receive dialysis. Patients that are in Stages 1 and 2 have few symptoms. Often early stages of renal failure are identified by testing for abnormally high levels of creatinine or urea in the

In some cases, a child inherits achondroplasia from a parent who also has the condition. If one parent has the condition and the other does not, with each pregnancy there is a 50 percent chance that each child will be affected. If both parents have achondroplasia, there is a 50 percent

Therefore, the mutated gene cannot be recessive in a gene, meaning there is no family influence on getting progeria. However, if someone with progeria were to produce an offspring, even though most do not make it until the age to have children, the offspring would have a 50% chance of having progeria. This is because the mutated gene exists within one of the two parents. Additionally, if parents who have a child with progeria, decide to have another child, the newborn has an increased chance by 2 to 3 percent of having progeria because there is a small volume of the mutated gene in the parents’

Choice “E” is the best answer. Ultrasonography is the most widely used imaging technique to help diagnose ADPKD. It can detect cysts from 1-1.5 cm. This study avoids the use of radiation or contrast material, is widely available, and is inexpensive. The sensitivity of ultrasonography for ADPKD1 is 99% for at-risk patients older than 20 years; however, false-negative results are more common in younger patients. Sensitivity for ADPKD2 is lower and is still not well defined. Ultrasonography is also useful for exploring abdominal extrarenal features of ADPKD (e.g., liver cysts, pancreatic cysts). The presence of hepatic or pancreatic cysts supports the diagnosis of ADPKD[1].

* Approximately 95% of individuals representing index cases have inherited the ABCD1 mutation from one parent; at minimum, 4.1% of individuals with X-ALD have a de novo mutation. Evidence of germline or somatic/germline mosaicism is present