2. What is Medical Technology ?
• Medical Technology, which is a proper subset of health technology,
encompasses a wide range of healthcare products and is used to
diagnose, monitor or treat diseases or medical conditions
affecting humans.
3. What is Medical Technologists ?
• Medical Technologists, also known as clinical laboratory
technologists, perform and analyze the results of complex
scientific tests on blood and body fluids.
4. What is nucleic acid used for in the
human body?
• The nucleic acids are the building blocks of living organisms. You may
have heard of DNA described the same way. Guess what? DNA is just
one type of nucleic acid. Some other types are RNA, mRNA, and
tRNA. All of these "NAs" work together to help cells replicate and
build proteins. NA? Hold on. Might that stand for nucleic acid? It
might.
5. NUCLEIC ACIDSIN RELATION TO
MEDICAL TECHNOLOGY
THE FOLLOWING ARE SOME OF THE TESTS PERFORMED BY MEDICAL
TECHNOLOGISTS INVOLVING NUCLEIC ACIDS:
NUCLEIC ACID TESTING
BLOOM SYNDROME
LESCH-NYHAN SYNDROME
FANCONI ANEMIA
6. Nucleic acid testing
• Nucleic acid testing (NAT) is a molecular technique for screening
blood donations to reduce the risk of transfusion transmitted
infections (TTIs) in the recipients, thus providing an additional layer of
blood safety.
• NAAT may also be used to detect other STI pathogens, including
herpes simplex virus (HSV), mycoplasma, ureaplasma, donovanosis,
trichomoniasis and chancroid. The availability of these tests may vary
and may be limited to research settings. Providers should discuss the
appropriate testing options with their local laboratory service.
7. Bloom Syndrome
Bloom syndrome is an inherited disorder characterized by short
stature, sun-sensitive skin changes, an increased risk of cancer, and
other health problems.
People with Bloom syndrome have low birth weight and length. They
remain much shorter and thinner than others in their family, growing
to an adult height of less than 5 feet.
8. Lab Studies
The gross overproduction of uric acid is often evident in routine blood and urine
studies.Uric acid levels in the blood typically are elevated, a helpful clue that can
be obtained by routine clinical testing; however, hyperuricemia has many different
causes, and some patients with Lesch-Nyhan disease have serum uric acid levels in
the normal range. As a result, serum uric acid levels do not provide reliable
diagnostic information.
A 24-hour urine sample typically demonstrates a marked increase of uric acid over
normative values, particularly if corrected for patient weight. However, 24-hour
samples are notoriously difficult to collect. Calculation of the concentration ratio of
urinary uric acid to creatinine in a spot urine specimen provides an alternative
method, though less information is available concerning normative values.
Hyperuricosuria is neither sensitive enough nor specific enough to provide reliable
diagnostic information.
9. Definitive diagnosis is obtained most often by measurement of HPRT
enzyme activity in blood or tissue. Blood samples often are used,
though intact fibroblasts or lymphocytes provide more precise
information with prognostic implications.
Diagnosis is confirmed by identifying a molecular genetic mutation in
the HPRT gene. Molecular genetic diagnosis provides an ideal tool for
carrier detection and prenatal screening of at-risk pregnancies.
Macrocytic anemia, sometimes profound, is relatively common.
Vitamin B-12, folate, and iron levels are typically normal.
10. Lesch-Nyhan disease
• Lesch-Nyhan disease is a genetic disorder associated with 3 major
clinical elements: overproduction of uric acid, neurologic disability,
and behavioral problems.The overproduction of uric acid is
associated with hyperuricemia. If left untreated, it can produce
nephrolithiasis with renal failure, gouty arthritis, and solid
subcutaneous deposits known as tophi. The neurologic disability is
dominated by dystonia but may include choreoathetosis, ballismus,
spasticity, or hyperreflexia.[3]
The behavioral problems include
intellectual disability (mental retardation) and aggressive and
impulsive behaviors. Patients with the classic disease also develop
persistent and severe self-injurious behavior.
11. Diagnose
In patients with Lesch-Nyhan disease, uric acid levels in the blood and
urine are typically, but not always, increased. Definitive diagnosis is
generally obtained by measurement of the hypoxanthine-guanine
phosphoribosyl transferase (HPRT) enzyme. Confirmation of the
diagnosis is most reliably made by identification of the HPRT1 gene.
12. Fanconi Anemia
Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare,
inherited blood disorder that leads to bone marrow failure.
The disorder also is called Fanconi’s anemia.
FA prevents your bone marrow from making enough new
blood cells for your body to work normally. FA also can cause
your bone marrow to make many faulty blood cells. This can
lead to serious health problems, such as leukemia (a type of
blood cancer).
13. • Specialists Involved
• A geneticist is a doctor or scientist who studies how genes work and
how diseases and traits are passed from parents to children through
genes.
• Geneticists do genetic testing for FA. They also can provide
counseling about how FA is inherited and the types of prenatal
(before birth) testing used to diagnose it.
• An obstetrician may detect birth defects linked to FA before your
child is born. An obstetrician is a doctor who specializes in providing
care for pregnant women.
• After your child is born, a pediatrician also can help find out whether
your child has FA. A pediatrician is a doctor who specializes in treating
children and teens.
• A hematologist (blood disease specialist) also may help diagnose FA.
