Case study 1 Melanoma A 50-year-old woman presented one year ago with a skin lesion, a biopsy was taken. and histological examination showed malignant melanoma. The patient had surgery to remove the lesion and appeared to be clear of the disease. The patient did not have targeted therapy at this stage. On year after surgery, she developed metastasis in the liver. Tumour biopsy confirmed melanoma and next generation sequencing analysis of the cancer genome was carried out. The results of the genomic analysis are included in the table below. The list of genomic variants produced using next generation sequencing. Chromosome Gene Function Zygosity ID COSV56056643 7934 COSV61684056 18921 COSV52662617 17p13 COSV104574314 16p13 BRAF SMAD4 TP53 AXIN1 Base change c.1799T>A missense Heterozygous missense Heterozygous c.1082G>A missense Heterozygous c.535C>T missense Heterozygous c.948G>A Amino acid change 1. Introduce the topic focusing on the molecular background of melanoma 2 p.V600E p.R361H p.H179Y p.G650S TASK You are required to analyse and interpret the genomic data linked to the case study and critically discuss how the genomic analysis would help in patient diagnosis and therapeutic management.

Case study 1 Melanoma A 50-year-old woman presented one year ago with a skin lesion, a biopsy was taken. and histological examination showed malignant melanoma. The patient had surgery to remove the lesion and appeared to be clear of the disease. The patient did not have targeted therapy at this stage. On year after surgery, she developed metastasis in the liver. Tumour biopsy confirmed melanoma and next generation sequencing analysis of the cancer genome was carried out. The results of the genomic analysis are included in the table below. The list of genomic variants produced using next generation sequencing. Chromosome Gene Function Zygosity ID COSV56056643 7934 COSV61684056 18921 COSV52662617 17p13 COSV104574314 16p13 BRAF SMAD4 TP53 AXIN1 Base change c.1799T>A missense Heterozygous missense Heterozygous c.1082G>A missense Heterozygous c.535C>T missense Heterozygous c.948G>A Amino acid change 1. Introduce the topic focusing on the molecular background of melanoma 2 p.V600E p.R361H p.H179Y p.G650S TASK You are required to analyse and interpret the genomic data linked to the case study and critically discuss how the genomic analysis would help in patient diagnosis and therapeutic management.

Surgical Tech For Surgical Tech Pos Care

5th Edition

ISBN:9781337648868

Author:Association

Publisher:Association

Chapter9: Surgical Pharmacology And Anesthesia

Section: Chapter Questions

Problem 9.5CS

See similar textbooks

Similar questions

Case study 2 40-year-old man with no history of any chronic liver disease, presented with acute liver failure (ALF). After carrying out extensive laboratory screening, it was suspected that the ALF was due to auto-immune liver disease namely Autoimmune Hepatitis. Answer the question with both details and clear, Discuss the pathophysiology of the disorder and critically evaluate current laboratory methods identify were relevant with overview of method aims and how it meets the pathophysiological criteria for the classification of the disorder.
Case study : Ms. X, a 32-year-old Hispanic woman, has had a history of intermittent pleuritic chest pain and joint pain for the past several years. Recently, she went to her physician because she noticed that an erythematous, butterfly-shaped rash had appeared on her face. Further lab tests indicated protein in her urine. Her blood test indicated the presence of numerous antinuclear antibodies, especially anti-DNA, and mature neutrophils containing nuclear material. A diagnosis of systemic lupus erythematosus (SLE) was made. Discussion Questions 1. Discuss possible reasons why SLE was not diagnosed earlier 2.Discuss how the presence of antibodies can cause such widespread damage in organ systems. 3. Discuss possible manifestations of SLE 4. Discuss treatments for SLE and a prognosis for the patient in this case.
CASE STUDY Ruth, a 25 year office worker, decided to visit the doctor’s office after noticing changes in her body. She complained of severe nausea, vomiting, stomach pains and loss in appetite. But her biggest worries are her frequent skin itching, bloated belly and apparent yellowish pallor. After physically examining Ruth, the doctor ordered several laboratory tests. These include CBC, Coagulation studies, blood chemistry and Serologic tests. The results showed Prolonged Prothrombin time, increased INR, decreased blood proteins such as albumin, elevated liver enzymes and bilirubin levels. Her serology was reactive for the Hepatitis B surface antigen, positive for Total anti-HBc but negative for the anti-HBe and anti-HBs Answer the following questions, using the medical information of Ruth. 1. What do you think is the health issue of Ruth? Provide medical evidence.
CASE STUDY Ruth, a 25 year office worker, decided to visit the doctor’s office after noticing changes in her body. She complained of severe nausea, vomiting, stomach pains and loss in appetite. But her biggest worries are her frequent skin itching, bloated belly and apparent yellowish pallor. After physically examining Ruth, the doctor ordered several laboratory tests. These include CBC, Coagulation studies, blood chemistry and Serologic tests. The results showed Prolonged Prothrombin time, increased INR, decreased blood proteins such as albumin, elevated liver enzymes and bilirubin levels. Her serology was reactive for the Hepatitis B surface antigen, positive for Total anti-HBc but negative for the anti-HBe and anti-HBs 1. What do you think caused the liver disease of Ruth? Explain your answer2. What other hepatitis virus can infect Ruth?3. Is it an acute or a chronic infection? Explain your answer
Case Study:A 24-year-old woman notes vaginal itching and irritation with a slight discharge. Previously, shedeveloped a yeast infection that was treated with over-the-counter medications and resolved.Thinking that this was a recurrence, she again self-treated. This time, however, the symptomsdid not resolve, and now there is a pungent odor, along with a frothy discharge. She presentsto her HMO for diagnosis, and the nurse practitioner takes a swab of the secretions to performa rapid point-of-care test and microscopy. A wet mount of the swab demonstrates swimmingprotozoan with characteristic jerky motility. A stained smear also showed pear-shapedtrophozoite with flagella. Diagnosis: Bacterial vaginosisCausative Agent: Gardnerella vaginalis 1. Case2. Patient initials (Ex. 50-year-old man)3. History of the present illness (Symptoms and may include the physical exam of the patient)4. Chief Complaints (Ex. Morning stiffness in his joints for over a year)5. Diagnosis and Causative agent6.…
Case Study:A 24-year-old woman notes vaginal itching and irritation with a slight discharge. Previously, shedeveloped a yeast infection that was treated with over-the-counter medications and resolved.Thinking that this was a recurrence, she again self-treated. This time, however, the symptomsdid not resolve, and now there is a pungent odor, along with a frothy discharge. She presentsto her HMO for diagnosis, and the nurse practitioner takes a swab of the secretions to performa rapid point-of-care test and microscopy. A wet mount of the swab demonstrates swimmingprotozoan with characteristic jerky motility. A stained smear also showed pear-shapedtrophozoite with flagella. Diagnosis: Bacterial vaginosisCausative Agent: Gardnerella vaginalis 1. Case2. Patient initials (Ex. 50-year-old man)3. History of the present illness (Symptoms and may include the physical exam of the patient)4. Chief Complaints (Ex. Morning stiffness in his joints for over a year) 5. Diagnosis and Causative agent6.…
*Case Study* A 2-year-old boy fell from a backyard gym set. His shoulder and upper arm became very swollen shortly after the fall. The boy’s mother took him to the emergency department a few hours after th incident because he was complaining of pain. On physical examination, the physician noted that large hematoma had formed in the upper part of the boy’s right arm. There was no history of surgery (he had not been circumcised), injury, or illness. The boy was receiving no medication. Emergency department treatment consisted of aspirating the hematoma Subsequent to this treatment, the boy began to bleed extensively. He was admitted to the hospital. The following laboratory tests were ordered: a hemoglobin and hematocrit, platelet count, and bleeding time. Because the bleeding continued, a type and crossmatch for two units of fresh blood were ordered on a standby basis. Additional information from the mother revealed that the boy’s cousin had “bleeding problem.” Laboratory Data…
Case Study. A 3-year-old severely ill child was admitted to a hospital with symptoms of diarrhea, fever, and malaise. Laboratory testing showed abnormal renal and liver values and anemia. She had no history of previous illness, and her food history was a recent meal of teriyaki beef consumed at a local restaurant. a. What was the probable pathogen? b. What was the likely source? c. What is the pathologic effect of the pathogen?