Single Nucleotide Polymorphism Type Mutation in Ones Patient Genome - Case Study Example

Discussion: The patient evinced a Single Nucleotide Polymorphism type mutation in one’s genome that tends to be dbSNP rs 121908702 as further information was facilitated. Hence, by consulting the NCBI gen bank with regards to this particular mutation it was traced, it is empowered to cause prostate cancer with respect to the mutation that is being evinced in a certain gene which is known to be check point kinase 2 (CHEK 2). Here, this particular gene is active as a tumour suppressor and registering action for regulatory cell cycling in particular. Besides, in conjugant to this, single nucleotide polymorphism or SNPs, which constitute a single nucleotide that could be traced on the building block of a DNA? Yet, in this particular mutation we traced the nucleotide guanine (G) turned to adenine (A). Conclusively, the mutation pertaining to CHEK 2 was found linked to prostate cancer. In the case of these particular conclusions and symptoms and the associated laboratory investigations results the most possible diagnosis for this particular patient is prostate cancer, also called prostate adenocarcinoma that is linked to vary other grave complications. Such complications are indicative of secondary liver cancer and also soft tissue metastases, DIC, urinary tract infection, indications related to renal failure and anaemia. Prostate cancer is also known to cause spinal cord compression. It also makes lower back and parts of pelvis go tender. This may lead to patient dealing with acute back pain. Prostate specific antigen (PSA) that is normally secreted in the semen is the outcome of the prostatic epithelium. Miniscule amount could be traced in the serum in the case of regular males. The PSA test does indeed qualify to be labelled one of the tumour markers. It is a highly sensitive test that is used to gauge the magnitude of PSA in blood. In case of almost 80% of the men positive to metastatic prostate cancer, Prostate Acid Phosphatase (PAP), which is an enzyme churned out by the prostate is known to be alleviated. High results were achieved with both Prostate Specific Antigen (PSA) and Prostate Acid Phosphate (PAP). The histology section that was carried on the tissue section evinced timorous tissues that are also called adenocarcinoma of the prostate. Such tumour happens to be invasive and is capable of spreading to varied organs. It has been known to cause breakdown in the ducts by spreading to ductal tissues (Moul et al 2002). Besides PSA also relates to age and the expected range is known to differ with the age of the patient (Mashal D et al 2008). In case of this patient the PSA was highly elevated to reach (80mg/ml). Tagged to the histology laboratory results in case of the tissue section, it does indicate that the patient is suffering from prostate cancer. The progress of the cancer could further be diagnosed by conducting Gleason grading system, by using H&E stain. Besides, antibodies could be used as a confirming criteria and immunohistochemistry for ascertaining the basal cells (Humephery 2007). Gram stain, culturing on mackoncky, and nutrient agar were included in the microbiology results. The biochemical tests included (IMViC) that are indole, methyl red, Voges-proskaure (VP) and citrate (as is evinced in the tables 1, 2 and 3 in the appendix section respectively). In this case the bacterium is proteus mirabilis. In the case of this patient the swelling of the prostate placed urethra under pressure and caused urine retention by obstructing the flow of urine. Thereby it created a favourable biochemical environment for many bacteria to grow. In case of the patients suffering from the ailments pertaining to the flow of urine, such as patients that are catheterized or have urine retention, many researchers have traced the laboratory proof that proteus mirabilis has been considered to be a big culprit behind urine tract infections in such patients (5). It has also been known that bacteria do have the capacity to raise the PH to levels that it gets appropriate for assuring the adhesion of bacteria in the urethral tube. There the bacteria propagate in a colony known as biofilm formation. This is because these bacteria have virulent aspects such as hemolysin, urease and flagella, which are capable of hydrolyzing urea to carbon dioxide and ammonia. Eventually it culminates into precipitation of calcium phosphate, ammonia and magnesium ions that rely on that matrix to constitute stones in the kidney. This could make the situation more problematic for the patient as it worsens the urine retention already caused by prostate enlargement (8) (9). Hence, the back pain being reported by this patient could be traced to the stone formation in one’s kidney. This stone could obstruct the urine flow and may worsen the urine retention already caused by the enlargement of the prostate. Ciprofloxacin 5mg is perhaps the most effective and antibiotic of choice that could be prescribed to this patient (10). As far as the further laboratory investigations are concerned, it would be really appropriate if they rely on an array of biochemical reactions to trace the microbe like appendix profile identification 20 enterobactrease (APi 20 E). Liver function tests could be used to diagnose liver diseases. These tests include alkaline Phosphatase (ALP) enzymes and collective blood bilirubin. Both these tests were performed and there was noticed a moderate raise. These results conclude that perhaps the prostate cancer may have got metastasized from being glandular cells that are also called adenocarcinoma and have caused liver cancer (Moul et al, 2002). In a patient suffering from prostate cancer, elevated bilirubin levels may be explained as primarily linked to associated hemolysis or to hepatic jaundice explained in terms of the intrahepatic obstruction caused by post-hepatic jaundice or edema caused by the cancer associated blockage of bile duct. Besides, ALP is present in most of the body cells, but greater or higher levels could be noticed in the bone, lactating mammary glands, liver, intestinal tissue placenta, and kidney. In most of the adults normal levels of ALP are found in the liver. However the ALP levels register an increase owing to cancer or hepatocellular damage. That is why ALP level test is exploited as a diagnostic test for tumours in the liver that are metastatic (Goldman, 2002). Any raise in a patients alkaline Phosphatase levels does evince that the cancer has impacted the lever and may spread to the parts of skeleton. Most of the times procoagulants get released in the blood owing to infections, injuries such as massive tissue injury or liver cancer, which may lead to endothelial damage or platelet aggregation owing to the collection of tiny blood clots within the vessels carrying blood (Perazella, 2009). Micro-Thrombotic lesions and abnormal bleeding is caused by disruption in the coagulation factors (Perazella, 2009). It is a fact that a majority of the coagulation factors in the body are generated by the liver. Hence it is but natural to expect that any disease in liver will disrupt the generation of coagulation factors. The patient has prostate cancer. He also probably has liver cancer. These cancer cells have influenced the working of tissue factor, which may have contributed to the pathogenesis of DIC. Renal function tests were also done. This included plasma urea test and it evinced a moderate rise. This may be indicative of compromised renal function. In general renal failure may be caused by infection or damage to both tubules and glomeruli. This may culminate into either acute renal failure or chronic renal failure. In this patient renal failure may be caused by DIC that is linked to multiple organ failure and cancer of the prostate. The biochemistry results also point towards this. The higher limits than the normal range are indicative of some sort of compromise in the kidneys ability to secrete and absorb. The passing of the blood in the patient’s urine and the urine retention being faced by the patient do indicate that the kidney is compromised. It is perhaps because of this reason that the urine retention issue has worsened. The problem in the kidney of the patient is also indicated by the presence of electrolytes in the urine. This indicates that the overall kidney failure process is in stage two. If this particular patient is not treated in time the kidney situation may worsen from stage two to a complete failure or shut down (Hricak, 2009, p. 24). In such a scenario the patient may require kidney transplant. In other scenario the rise in concentration of the urea within the body of the patient may cause a failure of most of the body systems. Yet, more tests such as creatinine clearance may be done to elaborate on the patient’s renal function. Further Confirmatory Tests: Prostate Cancer is a very dangerous disease. At its advanced stage it could cause many complications. To rule out any further complications in the case of this patient some more laboratory tests are recommended: To estimate the progress of one’s cancer, H&E stain related Gleason grading system. Antibodies could be used as a confirmatory test for the detection of basal cells (34βE12 and p63) in immunohistochemistry. To estimate the progression of the disease, some molecular markers could be evaluated such as E-cadherin, microvessal density (histologic marker of tumour angiogenesis), DNA ploidy analysis, and human kallikrein 2. Varied other tests pertaining to the functioning of the kidney like K and Na. Low levels of Erythropoietin may point towards renal failure. The main enzyme of the liver, which is y-glutamyl transpeptidase (GGT) could ascertain the quality of liver functioning. The renal functioning could further be assessed by Blood Urea Nitrogen (BUN) - as urea is excreted by the kidneys and secreted by the liver. The hepatic functioning can further be investigated by conducting liver enzyme tests like Aspartate aminotransferase (AST) and to be more specific one could rely on Alpha glutathione S-transferases. To ameliorate Protius.m UTI infection, API 20 could be performed to ascertain the antibiotic sensitivity and bacteria strain. To test the activity in the bone marrow owing to the existence of polychromasia – Reticulocyte count. To ascertain fibrinolysis activation and coagulation, more confirmatory tests may be carried out to negate DIC Fibrinogen degradation products (FDP); enhanced levels of FDP are indicative of increased plasmin associated fibrinolysis. Almost 85%-100% patients of DIC evince this. D-Dimer assay; D-Dimer is produced as a consequence of degradation by plasmin of cross-linked fibrin and is produced by fibrinolysis. Imaging Studies: Extracapsular extension, liver metastases, seminal vesicle involvement, enlargement of pelvic node could be ascertained by pelvic or abdominal MRI or CT scan. Treatment response could be ascertained by periodical MRI and CT scan. Bone Scan- In patients with prostate metastatic cancer, bony metastatic disease could be abnegated by resorting to bone scan as a baseline for treatment. To help ascertain rare pulmonary metastases in serious cases, as a baseline study one could resort to chest radiography. Treatment and Management: Prostate cancer is an advanced disease condition and thereby it needs to be treated and controlled. The antibiotic therapy could well be initiated for the UTI. DIC needs to be managed by resorting to a correction of the underlying causes and by resorting to replacement therapy involving anti-coagulate and other blood products. Low doses of Heparin could be used with caution as activated protein C therapy, aminocaproic acid, and Tranexamic conjugated with the Heparin therapy. Androgen suppression therapy could be relied on in case of the metastatic tissue. For soothing, radiation treatment could be used. It could also be used in case of the patients with hormone-refractory disease, coexistent with bone metastases and in case of the patients who tend to suffer from the compression of the spinal cord. Conclusion: As already described, the patient is ailing from an utterly complex multifactorial pathogenesis. It is next to impossible to interpret the pathological events marring the patient with the available laboratory findings and the associated clinical details. To arrive at a sure shot diagnosis, further tests as already mentioned, need to be conducted. Read More