Nurs 502 advanced pathophysiology

1. Causes of Fragile-X Syndrome, clinical manifestations/symptoms and treatments and clinical?

– FXS, Fragile X syndrome which is a genetic disorder is caused by changes in a gene called FMR1. The FMR1 is a gene on the X chromosome that make protein called FMR that helps nerve cells to talk to one another. The protein, FMR is needed by the child for brain development. Children with Fragile X syndrome makes little protein or none.

• Fragile-X Syndrome can show a combination of the following symptoms as children and throughout life: Developmental delays like taking longer to sit, walk or talk, Learning and intellectual disabilities, Stuttering/stammering, Autism, Social or general anxiety, Impulsiveness, Social issues like not able to make eye contact with other people, disliking being touched and trouble understanding body language, Difficulty in sleeping, Hyperactivity, Depression and Seizures. However, some people with Fragile X Syndrome can have physical abnormalities which include a large forehead or ears and a prominent jaw, Protruding ears, forehead and chin, An elongated face, Flat feet and Loose or flexible joints. Nurs 502 advanced pathophysiology.
• Fragile X syndrome has no cure for but some therapies can help with the symptoms of the disorder. Some therapy includes physical, occupational and speech therapy. Special education services also help with academic and learning challenges.

2. What are the Chromosomal Disorders – Number or Structure?

– Chromosomal disorders or abnormalities is a genetic disorder which is caused by change in one or many chromosomes or the abnormal arrangement of the chromosomes

– A numerical abnormality. This means an individual is either missing one of the chromosomes from a pair or has more than two chromosomes instead of a pair.

– A structural abnormality. This means the chromosome’s structure has been altered in one of several ways. Nurs 502 advanced pathophysiology.

3. What is neurofibromatosis, causes, the types and varying degrees of the disease. The treatments and clinical manifestations?

• Neurofibromatosis is a group of genetic disorders that cause tumors to form on nerve tissue. These tumors can develop anywhere in the nervous system, including the brain, spinal cord and nerves.
• Neurofibromatosis is caused by genetic defects or mutations that either are passed on by a parent or occur naturally at conception
• The three types of neurofibromatosis are neurofibromatosis 1 (NF1), Neurofibromatosis 2 (NF2) and Schwannomatosis.
• Neurofibromatosis symptoms includes: –
• Neurofibromatosis 1 (NF1) symptoms are, Multiple freckles in the armpit or groin, Tiny growths in the iris, Bone deformities, including a twisted spine (scoliosis) or bowed legs, Tumors along the optic nerve, High blood pressure, Osteoporosis, Learning disabilities, Large head size and Short stature. Nurs 502 advanced pathophysiology.
• Neurofibromatosis 2 (NF2) symptoms are, Loss of hearing, Weakness of the muscles of the face, Dizziness, Poor balance, Uncoordinated walking, Cataracts and Headaches.
• Schwannomatosis symptoms are, Pain from the enlarging tumors, Numbness and tingling of the fingers or toes, Weakness in the fingers and toes, Chronic pain and Loss of muscle
• Neurofibromatosis has no cure but treatments focus on controlling symptoms. However, when treatment is necessary, it includes surgery to remove problem growths or tumors, chemotherapy or radiation if a tumor has turned malignant or cancerous. Therapy

4. What are Autosomal Recessive Disorders and recurrence risk probabilities
   • An autosomal recessive disorder results from inheriting two changed genes, one from each parent which are you mutated and are usually passed on by two carriers. Their health is hardly affected, but they have one dominant gene (un affected gene) and (recessive gene) changed gene.
   • When both parents are both carriers, their children each have a 25% chance of being affected. Nurs 502 advanced pathophysiology.

BUY YOUR PAPER HERE

5. What are the differences between a sex-linked, hemizygous, recessive and dominant genes?

• Sex linked genesare genes that are in the sex chromosomes and that are therefore inherited differently between males and females.
• Hemizygousis a condition in which only one copy of a gene or DNA sequence is present in diploid cells. Males are hemizygous for most genes on sex.
• A recessive gene is a gene whose effects are masked in the presence of a dominant gene. Every organism has DNA packed into chromosomes has two alleles, or forms of a gene, for each gene: one inherited from their mother, and one inherited from their father
• Dominant refers to the relationship between two versions of a gene. Individuals receive two versions of each gene, known as alleles, from each parent.

5. What are the differences between a Benign and Malignant Neoplasms?

• Neoplasm also known as Tumor is an abnormal mass of tissue that forms when cells grow and divide more than they should or do not die when they should. Neoplasm can cause anaplastic cells which function different then they are supposed to.
• Benign neoplasm is a mass of cells/tumor that lacks the ability either to invade neighboring tissue or spread throughout the body (metastasize)
• Malignant Neoplasms arecancerous tumors and they develop when cells grow and divide more than they should. Malignant neoplasms can spread to nearby tissues and to distant parts of the body

6. What is Carcinogenesis and explain the Phases of Carcinogenesis?

• Carcinogenesis is the process in which normal cells are develop into cancer cells.
• Carcinogenesis has four phases namely: Initiation, Promotion, Progression and Metastasis.

1. Initiation is the first stage and it involves the alteration change or mutation of genes arising spontaneously or induced by exposure to a carcinogenic agent. Genetic alterations can result in dysregulation of biochemical signaling pathways associated with cellular proliferation, survival, and differentiation, which can be influenced by a number of factors, including the rate and type of carcinogenic metabolism and the response of the DNA repair function.
2. The promotion is the second stage and is considered to be a relatively lengthy and reversible process in which actively proliferating preneoplastic cells accumulate. The process can be altered at this period by chemo preventive agents and affect growth rates. Progression is the phase between a premalignant lesion and the development of invasive cancer.
3. Progression is the final stage of neoplastic transformation where genetic and phenotypic changes and cell proliferation occur. This involves a fast increase in the tumor size where the cells may undergo further mutations with invasive and metastatic potential. Chemo preventive agents should be able to preferentially act within the initiation and promotion processes of carcinogenesis.
4. Metastasis involves the spread of cancer cells from the primary site to other parts of the body through the bloodstream or the lymph system. Chemo preventive agents are known to inhibit angiogenesis and invasion of primary tumors and thus could be utilized to inhibit the metastasis of cancer. Nurs 502 advanced pathophysiology.

7. What is metastasis dependent on ability to access and survive in?

• Metastasis is spreads of cancer to a different body part from where it started
• Cancel will need adequate blood supply, location and host for its ability to access and

survive in circulatory & lymphatic systems.

• The tumor will only grow as large as the blood supply.
• Host factors are age, gender, health and immune function. Nurs 502 advanced pathophysiology.

PLACE YOUR ORDER HERE

8. What are characteristic of malignant cells?

• Malignant is a term used to describe cancer. Malignant cells grow in an uncontrolled way and can invade nearby tissues and spread to other parts of the body through the blood and lymph system.
• Characteristic of Malignant cells include; –

1. Tumor clonality or the tumors development from single cell.
2. Increased ability to survive, they often gain resistance to apoptosis.
3. Abnormal regulation of cell cycle
4. Grow and divide at an abnormally rapid rate
5. Decreased need of hormones and growth factors coming from outside of the cell
6. Poorly differentiated
7. Abnormal membranes, cytoskeletal proteins and morphology.
8. High number of chromosomal breaks and numerous chromosomal aberrations
9. Presence of tumor neoantigens
10. Some transformed cells have ability of autocrine stimulation usually via growth factors
11. Intercellular communication and the relationship between tumor cells and neighboring cells is disrupted
12. Failure to fix to a solid cell surface. Nurs 502 advanced pathophysiology.

9. Explicate what is cancer, Prognosis, treatment and clinical manifestations of cancer and how its diagnosed?

• Canceris the uncontrolled growth of abnormal cells in the body which develops when the body’s normal control mechanism stops working.
• A prognosis is an estimate of the likely course and outcome of a disease. The prognosis of a cancer patient is often viewed as the chance that the disease will be treated successfully and that the patient will recover.
• Cancel clinical manifestations include: anemia, fatigue, cachexia, leukopenia, thrombocytopenia, pain.
• Cancel is diagnosed through screening test, grading (1-4 with 1 being less severe than 4) and TNM staging system (tumor size, nodal involvement, & metastatic progress).
• Cancer treatment options include, Surgery to remove the cancer or as much of the cancer as possible, Chemotherapy which uses drugs to kill cancer cells, Radiation therapy, Bone marrow transplant, Immunotherapy, Hormone therapy, Targeted drug therapy and Cryoablation. Nurs 502 advanced pathophysiology.

10. What is breast carcinoma 1 and 2 (BRCA1 and BRCA2) and how does it affect the body?

• Stage 1 and 2 breast cancer being the early stage of breast cancer refers to invasive breast cancer that is contained within the breast and may or may not have spread to the lymph nodes in the armpit.
• Stage 1 breast cancer means that the cancer is small and only in the breast tissue or it might be found in lymph nodes close to the breast. Nurs 502 advanced pathophysiology.
• Stage 2 breast cancer means that the cancer is either in the breast or in the nearby lymph nodes or both.
• BRCA1 and BRCA2 genes protect someone from getting certain cancers. But some mutations in the BRCA1 and BRCA2 genes prevent them from working properly, so that if one inherits one of these mutations, is more likely to get breast, ovarian, and other cancers.

11. What are the types of cancer screening test?

• Colonoscopy, sigmoidoscopy and high-sensitivity fecal occult blood tests (FOBTs). The tests can detect abnormal colon growths (polyps) that can be removed before they develop into colorectal cancer.
• Low-dose helical computed tomography. This test is used to screen for lung cancer.
• This test if used to screen breast cancer. Test used to screen cervical cancer.
• Pap test and human papillomavirus (HPV) testing. These tests used to screen cervical cancer.
• Alpha fetoprotein blood test. This test is sometimes used along with ultrasound of the liver to detect liver cancer.
• Breast MRI. This imaging test is often used for women who carry a harmful mutation in the BRCA1 gene or the BRCA2 gene who have a high risk of breast cancer.
• CA-125 test. This is a blood test which is done together with a transvaginal ultrasound and its used detect ovarian cancer.
• PSA test. This is a blood test, which is done along with a digital rectal exam, is able to detect prostate cancer.
• Skin exams. This is a test for skin cancer.
• Transvaginal ultrasound. This is an imaging test for endometrial cancer. Nurs 502 advanced pathophysiology.

BUY YOUR PAPER HERE

12. What are Antioxidants and their purpose(s)? Protect against oxidation (free radicals).

• Antioxidants are man-made or natural substances that may prevent or delay some types of cell damage caused by free radicals by neutralizing them and are found in many foods.
• These include the nutrient antioxidants, vitamins A, C and E, and the minerals copper, zinc and selenium.