Answer: Mutations in the GALT, GALK1, and GALE genes cause galactosemia.
Explanation: Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications of this condition can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems caused by an early loss of function of the ovaries (premature ovarian insufficiency). Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.
Answer:
The correct answer is: B, C, D,F, G, H.
Explanation:
Aneuploidy is a defect on the number of chromosomes a cell has. Human cells have 46 chromosomes, an additional chromosome (47) or a missing one (45) is an aneuploidy. Aneuploidy is usually due to a defect during cell division (chromosomes don’t separate). The following disease are examples of aneuploidy:
b. Down's syndrome (trisomy of chromosome 21)
c. Edward's syndrome (trisomy of chromosome 18)
d. Jacob's syndrome (a male with an extra Y chromosome)
f. Turner's syndrome (a female missing a X chromosome)
g. Klinefelter's syndrome (a male with an extra X chromosome)
h. Patau's syndrome (trisomy of chromosome 13)
Answer:
An appropriate goal statement for Impaired swallowing is that the patient will not exhibit any signs or symptoms of aspiration during this hospitalization (e.g., lungs clear, respiratory rate within normal range for patient). Consuming 50% of meals and gaining weight are appropriate goals for Imbalanced nutrition: less than body requirements
Vaccines are the most efficacious means of minimizing the impact of infectious diseases on the human population. The challenges and importance of making vaccines that will meet FDA approval have never been greater. Genomics has the potential to improve the process of vaccine development substantially. Genome sequencing can help to identify genetic patterns related to the virulence of a disease, as well as genetic factors that contribute to immunity or successful vaccine response. All this information could lead to vaccines with better and more specific targets that elicit more successful protective immune responses. Comparing the genome sequences of viruses that cause infection with those that do not may provide additional insights. In turn, genome manipulation can facilitate derivation of attenuated strains or other vehicles for delivery of the desired antigens to stimulate immune response. On the other end of the spectrum, analysis of host diversity can reveal effective immune responses and possibly the genetic basis for inappropriate response. The recent progress in definition of the innate immune system, necessary for acquired response, should facilitate the definition of this host diversity.
Answer:
Ensure that before use the mercury level is below 35 ∘C. Read the thermometer keeping the level of mercury along the line of sight.