Gilbert syndrome (GS, MIM ID #143500) is defined as mild unconjugated hyperbilirubinemia, without liver disease or hemolysis, inherited in autosomal recessive manner [Matsui et al. 2010]. Free bilirubin appears in blood after erythrocyte breakage due to degradation of the heme ring and is eliminated by liver after conjunction with glucuronic acid (conjugated, direct bilirubin). This process is catalyzed by one enzyme: bilirubin-UDP-glucuronylotransferase UGT1A1, which is encoded by the UGT1A1 gene (MIM ID *191740, locus 2q37) [Strassburg 2010]. UGT1A1 participate in second phase of xenobiotic inactivaton mainly in bilirubin conjugation and marginally influenced on activity of phenols, flavones, C18 steroides, dietary carcinogens, tobacco smoke as well as N-hydroxy-PhIP [Strassburg 2010]. Mutations in UGT1A1 gene lead to Crigler-Najjar syndrome (type I and type II) and polyomrphism of 5-prime end of UGT1A1 gene promoter is responsible for Gilbert syndrome. The homozygous wild type of TATA box located in gene promoter has six repetitions A(TA)6TAA (UGT1A1*1/*1; 6/6) however in Gilbert syndrome seven are present in both alleles A(TA)7TAA (UGT1A1*28/*28; 7/7), whereas heterozygous variant has in one allele six and in second seven repetitions UGT1A1*1/*28; 6/7 [Matsui et. al 2010]. Recently it has been postulated that not only TA insertion is responsible for GS but other linked polymorphisms such as c.-3275T>G (former name c-3279 T>G) present in phenobarbital responsive enhancer module [Mauro 2004; Matsui et. al 2010]. But the role of mentioned polymorphism still remains unclear. The activity of UGT1A1 enzyme in GS patients decreased into one third of normal activity therefore a higher circulating concentration of serum bilirubin is ob...
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...l utility of modifying an initial and/or subsequent dose of irinotecan in patients with metastatic CRC as a way to change the rate of adverse drug events…”[Palomaki et al. 2009]. Reduction of irinotecan dosage might decrease the ADR however it could lead to increased morbidity and mortality because of “under-dosing” effect. Recently published data obtained from Israeli population (329 colorectal cancer patients) has shown strong association between 7/7 genotype of UGT1A1 gene and severe toxicity and lower overall survival in irinotecan treated patients.
On the basis of available literature we may infer that study on influence of UGT1A1*28/*28 genotype are crucial for irinotecan treated patients for predictions of their being and survival. To our best knowledge in Poland in Lower Silesia none Oncology Centre do not perform the UGT1A1 testing for the patients.
Eisenmenger Syndrome (ES) is a heart defect that was first giving the name in 1897 (Fukushima, 2015). This syndrome happens when the birth defect is not treated before the lungs’ arteries become damaged. Eisenmenger Syndrome is named after Victor Eisenmenger a man who had a patient who showed symptoms such as, breathing complications and skin that was turning a bluish color. The autopsy of this patient lead him to discover a ventricular septal defect [VSD] (El-Chami, 2014), that causes a hole in the wall on the right and left ventricular. This is the defect that begins when signaling for pulmonary artery hypertension, which progresses into more advanced stages of ES. This birth defect eventually causes patients to have various
Scriver, Charles R, Beaudet, Arthur L, Sly, William S, et al. (2001). The metabolic and molecular bases of inherited disease. 8th ed. London: McGraw-Hill. Pp 1634-1639.
Radionuclide therapy is the use of ionizing radiations in the management of cancer. The primary goal of the therapy is to kill the cancerous cells completely or cause damage to the DNA of the tumor cells, thereby preventing these cells from undergoing further development, division, and growth (Bolus & Brady, 2011). Radionuclide therapy can have a curative effect if the target cancer cells are localized to a specific region of the body and have not spread. It is also used as a component of adjuvant therapy, where it is used to prevent the possibility of tumor cells that have been removed through surgery from recurring again. Radiation can also be done together with chemotherapy before, during, or after the procedure in cancers that are very susceptible (Schulz-Ertner, Jakel & Schlegel, 2006). The purpose of this discussion is to give an introduction about radionuclide therapy, its types and uses, and to compare it with radiation therapy and chemotherapy.
In 1993 a consortium of researchers who worked on the DNA samples from families in the Lake Maracaibo region of Venezuela, an area with a high density of HD and significant consanguinity, reported the successful discovery of the gene responsible for the occurrence of this disease, present in chromosome 4 and named it as IT15 (Interesting transcript #15). IT15 later called as the Huntingtin gene (HTT) [2]. HTT is ~10 kilobases (kb) long and translated into a protein of 3144 amino acids with anticipated molecular mass of 348 kDa. Huntigtin protein is expressed in in human and all mammalian cells, where brain and testis has the highest concentration; liver...
Chemotherapy is the treatment of a tumor with chemical agents to reduce mass or eradicate a tumor completely. There are certain mechanisms by which chemotherapy inhibits cancer. The first mechanism is cell death by cytotoxicity. Some chemical agents in certain amounts are toxic to cells. The cells die due to the toxic...
The entire world is affected by this problem; this is because if this gets out of hand
There are many possible reasons why a child may grow slowly, including: hereditary factors (short parents), diseases affecting the kidneys; heart, lungs or intestines; hormone imbalances; severe stress or emotional deprivation; infections in the womb before birth; bone diseases; and genetic or chromosomal abnormalities. The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females.
A disease that results from a change to an individual's DNA is classified as a genetic disorder. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome. An instance of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. It is common for affected individuals to show irregularities in their eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009).
Chemotherapy drugs are more dangerous than other drugs because of their narrow therapeutic index. What is therapeutic index you ask? It is the ratio between a toxic dose and a therapeutic dose of a drug so any medication error with chemotherapy drugs could be a fatal one. Chemotherapy drugs can be very toxic even at the prescribed therapeutic level recommended by the physician. The findings in this article shows that the patient themselves are the first line of defense in spotting errors in medications they receive because they obs...
Cancer in one way or another touches all of us, whether as a patient or through the diagnosis of the people you love around you. Millions of patients who are faced with cancer are depending on oncologists everywhere to cure cancer so others will not suffer like they had to. Optimistically, sooner rather than later this international problem will come to an end. There are a number of drug companies that have been coming out with cancer treatment drugs. “Oncology has been one of the hottest and most active therapeutic areas for drug development, drug makers may want to take note of a finding that new cancer drugs have proven far more difficult to gain approval than medicines for infectious and autoimmune diseases.” (nature.com) Unfortunately, these drugs cannot cure the cancer but it sure makes it a load easier o...
My sister, Kathy, was diagnosed with cancer in 2013. I was shocked because my sister was always the healthy one among all us girls, the type of cancer, Kathy called colon cancer, Cancer that forms in the tissues of the colon. Most oncogene mutations of indisputable normal genes designate proto-oncogenes. Proto-oncogenes determine the “excellent” genes that usually rule what cell do and the way typically it distribute. Once a factor mutates (changes) into cell, it come back a "hurtful" factor that may become usefulness on or activated once it's not believe to be. Once this occurs, the cell becomes out of management, which might pass to cancer. As scientists learn additional throughout oncogenes, they will be powerful to develop a medication that inhibits or restrain them.
The American Cancer Society publishes current advances made in cancer research on their website. Many of the exciting discoveries about how best to treat the disease focus on the genetic aspects associated with certain types of cancer. In addition, treatments aimed at genetic solutions to cancer may be more effective and may cause fewer adverse side effects than traditional cancer treatments (American Can...
Zein, N. N., & Edwards, K. (2009). The Cleveland Clinic guide to liver disorders. New York: Kaplan Pub.
...apter 362. Glycogen Storage Diseases and Other Inherited Disorders of Carbohydrate Metabolism. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e. Retrieved January 21, 2012 from http://www.accessmedicine.com/content.aspx?aID=9144477.
Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.