A 45-year-old female has elevated thyroxine production. Which of the following would accompany this condition?…
7) In the inflammatory response, the absence of which of the following would prevent all the others from happening?…
Tay-Sachs disease is a rare inherited autosomal recessive disorder first discovered in 1881. It is a disease that is found in many populations, but commonly affects the populations of the Ashkenazi Jews. The disorder is caused when there is an absence of enzyme called beta hexosaminase A that is found on chromosome 15. The most common mutation occurs in mostly 80 percent of Tay-Sachs patients is the four base pair addition (TATC) on exon 11 and a G to C inversion at the splice junction of intron 12 which leads to a miss spliced and causes the messenger RNA to be unstable; and a G to A inversion on exon 7 of the hexosaminase A gene. The insertion of this base pair causes the codon to stop early which then causes a hexosaminase A deficiency (Amos Frisch). Tay-Sachs is a lethal disease.…
Most episodes of SVT are caused by faulty electrical connections in the heart. What causes the electrical problem is not clear. SVT also can be caused by certain medicines. Examples include very high levels of the heart medicine digoxin or the lung medicine theophylline. Some types of SVT may run in families. Or they may be caused by a lung problem such as COPD or pneumonia. The condition most occurs in young people or infants…
In children with Tay-Sachs disease, a faulty gene on chromosome 15 (HexA) causes the body to not produce the enzyme B-Hexosaminidase A. This means that the fatty substance (ganglioside) builds up in the brain and spinal cord, significantly damaging brain cells and therefore resulting in death.…
A rare and fatal disease, Tay-Sachs is characterized as one of the devastating neurodegenerative disease. Children afflicted with Tay-Sachs “lose motor skills and mental functions” eventually becoming “blind, deaf, mentally retarded, paralyzed...Tay-Sachs children usually die by age five” (“Tay-Sachs Disease”). A diagnosis of infantile Tay-Sachs is akin to a death sentence; the only form of care would be comfort for death. Tay-Sachs is passed on genetically from parent to child and, as it is an autosomal recessive disorder, “When both parents are carriers, there is a 1 in 4 (25%) chance, with every pregnancy, of having a child with Tay-Sachs disease...a 2 in 4 (50%) chance...of having a child who is a Tay-Sachs carrier” (Tay-Sachs Disease).…
Sickle-cell disease is a genetic disorder that results from the abnormal structure of red blood cells. The peculiar shape of the red blood cell prevents the normal absorption of oxygen. This disease results from the abnormal production of hemoglobin S (HbS). Therefore, a mutation in this gene causes a lower supply of oxygen to the cells, which results in occlusion of the blood vessels. Individuals diagnosed with sickle-cell anemia have abnormal function of the gene that encodes for subunit B, which is a protein that serves as part of the hemoglobin A (HbA). The HbA is responsible for oxygen binding through the blood stream. Indeed, the abnormal polymerization of hemoglobin occurs in homozygous individuals with sickle-cell anemia, which lowers the oxygen supply of red blood cells. To lower the negative consequences of sickle-cell anemia, it is necessary to provide a better understanding of the genetic material that underlies the sub-phenotype of sickle-cell anemia. Therefore, this could help in the discovery of drugs that could target the genes responsible for sickle-cell anemia.…
If your chest muscles are affected by the disease, you may experience breathing problems, such as shortness of breath, or in severe cases, respiratory failure. Late in the disease, particularly if you’ve had the disease for a long…
Swelling of the hands and feet and problems with blood flow and nerve function (compartment…
Rett syndrome is a genetic disorder that I have dealt with first-hand. I babysat a set of twins in my neighborhood, and one of the twins, Morgan, was diagnosed with Rett syndrome as an infant. I started babysitting the twins, Morgan and Ryan, when I was a freshman in high school, but I mainly took care of Morgan. She would giggle and smile, but other than that she was mute. Morgan ate baby food and watched Disney movies. She also wore a diaper, and was unable to walk. It was hard on the family when they found out that one of their twins had Rett syndrome. Ryan is completely normal, and experienced his childhood just as every other kid did. The parents needed a babysitter because Ryan was unable to take care of Morgan on his own. I babysat the twins up until Morgan’s death at the age of twelve. Morgan’s death was not only hard on the family, but was also hard for me as well. Even though Morgan was mute, she still knew who I was, and would laugh along with the rest of her family. The family knew that Morgan was not going to live very long, but that still didn’t make it any easier when she passed. Her siblings treated her as if nothing was wrong, and would take her everywhere that they went. Morgan touched the lives of everyone that knew her, and I am grateful that she was able to be a part of my life.…
Symptoms of this condition include, severe pain, anemia, chest pain and difficulty breathing, strokes, joint or arthritis pain, bone infarctions, and blockage of blood flow in the spleen or liver. These are sometimes followed by severe infections, fatigue, paleness, rapid heart rate, shortness…
Multiple sclerosis [MS] is a chronic, autoimmune, inflammatory, neurodegenerative condition of the central nervous system [CNS] (Boppanna, Huang, Ito & Dhib-Jalbut, 2011) characterized by demyelination and axonal loss (Chastain, Duncan, Rodgers & Miller, 2011). MS expresses itself in 4 forms: relapsing remitting MS [RRMS], secondary progressive MS [SPMS], primary progressive MS [PPMS], and progressive relapsing MS [PRMS] (Boppanna, Huang, Ito & Dhib-Jalbut, 2011). MS affects 0.1 per cent of the world’s population (Chastain, Duncan, Rodgers & Miller, 2011), occurring 2- and 2.5-fold more frequently in women than in men, having an incidence range of post-pubertal teenagers to adults in their 50’s (Calabresi, 2011).…
Multiple sclerosis is a chronic, progressive neurological disease affecting all aspects of life: physical, cognitive, emotional, and social (Abma). It is known as an autoimmune disease, Where the body’s immune system turns against the body and destroys the protective covering that surrounds nerve cells. This damage to the nerve cells causes many problems for the patient including weakness, muscle stiffness, poor coordination and balance, tingling, numbness, tremors, blurred vision, slurred speech, and memory and concentration problems (Bren)…
More than 300,000 people in the United States and over 1 million people worldwide are diagnosed with MS. The disease generally strikes women twice as often as men, between the ages of 20 to 40. The signs and symptoms of MS can vary widely depending on the individual and the specific nerves that may be affected. Some symptoms include abnormal sensations such as tingling, weakness or numbness in the arms or legs and possibly…
Sickle cell disease is present usually in those of African or Mediterranean descent (Saladin 2007). About 1.3% of African Americans have sickle cell (Saladin, 2007). Sickle cell was originated in Africa where malaria was killing a vast number of people (Saladin, 2007). The sickle cell hemoglobin is not able to be digested by the parasites that cause malaria, making those with sickle cell resistant to malaria (Saladin, 2007). This paper will discuss a normal erythrocyte compared to an erythrocyte affected with sickle cell. It will also talk about how to diagnose sickle cell disease.…