Personalized Medicine Journal
Volume:8 Issue: 28, Winter 2023

BackgroundCancer associated thrombotic microangiopathy (CA-TMA) is a rare diagnosis that while confronting a patient with evidence of microangiopathic hemolytic anemia and thrombocytopenia with normal ADAMTS13 enzyme activity, should be considered. Here we present two cases of cancer associated TMA; breast cancer and gastric cancer.Case presentationCase 1 was a 40-year-old man presented with abdominal pain, icterus and weight loss and laboratory tests revealed microangiopathic hemolytic anemia. He received 6 sessions of plasma exchange under diagnosis of thrombotic thrombocytopenic purpura. Bone marrow biopsy and immunohistochemistry revealed clusters of non-hematopoietic cells suggestive of gastrointestinal adenocarcinoma. Case 2 was a 51-year-old woman whose clinical history and laboratory tests were similar to case 1 except for a breast mass along with axillary lymphadenopathy. Bone marrow examination revealed clusters of non-hematopoietic cells and core needle biopsy revealed invasive lobular carcinoma.Both patients were unresponsive to plasma exchange and case 1 unfortunately shortly died after diagnosis but case 2 is alive and survived after receiving chemotherapy. ConclusionCancer associated TMA can rarely be seen as the first manifestation of a malignancy and causes a diagnostic dilemma for clinicians.The prognosis of CA-TMA is generally poor and initiatingchemotherapy is the only reliable treatment option.

Kallikrein related peptidases (KLKs) are a group of serine-like proteases such as chemo trypsin and trypsin, which are regulated by steroid hormones and play a vital role in a variety of natural and physiological functions through their proteolytic activity. However, involvement of these proteases has been reported in many pathological conditions, such as various types of malignancies. Deregulation of the expression of genes encoding kallikrein, including KLK2, is often associated with many types of cancer, in particular prostate cancer. This review provides an overview of the gene and protein structures and function of KLKs particularly, KLK2, at the molecular level, and also summarizes the role of KLK2 in the pathobiology of prostate cancer and the possible mechanisms involved in its progression. Finally, the importance of this protein is studied as a specific diagnostic marker along with PSA marker as well as therapeutic target of KLK2 in treatment of prostate cancer.  A comprehensive understanding the structure and activity of this protein in prostate cancer can provide a valuable tool for future clinical practice that can be used to evaluate the clinical outcome and select the most appropriate treatment strategy. The critical role of KLK2 in promoting cell growth, migration, metastasis, angiogenesis and inhibiting apoptosis in prostate cancer cells, suggests KLK2 as the second diagnostic biomarker along with PSA with high specificity.

Multiple sclerosis (MS), the most common inflammatory demyelinating illness of the central nervous system (CNS), presents a range of clinical symptoms. The body’s immune system attacking myelin causes the transmission block in MS, which increases the electrical capacity of axons. Studies suggest that epigenetic factors play a part in the development of MS. Longer than 200 nucleotides in length and widely distributed, lncRNAs are linear RNA transcripts that cannot code for proteins. For instance, evidence suggests that lncRNAs are essential for a number of cellular functions, including immune response regulation, epithelial mesenchymal transition (EMT), cancer cell proliferation and metastasis, cellular homeostasis, and embryonic development. Epigenetic mechanisms have been proven to have a significant impact on the pathophysiology of MS, and their participation has revealed the function of lncRNAs as epigenetic regulatory molecules in molecular processes. The major subjects of this study have been the relationship between lncRNAs and MS, the role of lncRNA in the pathophysiology of the disease, and the diagnostic and prognostic potential of lncRNA in MS.

Polymorphisms of Vitamin D-binding protein (DBP) may represent a risk factor for susceptibility to Type 2 Diabetes Mellitus (T2DM). Two polymorphisms are common at codons 420 (ACG to AAG) and 416 (GAT to GAG) in the DBP gene. The present study aimed to assess variants of DBP at codons 420 and 416 utilizing polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP), which were digested by Sty I (codon 420) and Hae III (codon 416) restriction enzyme. For this purpose, 240 patients were recruited along with 159 controls. The genotype frequency of Glu/Glu at codon 416 in control and patient groups was 25.16% and 32.92% respectively. Moreover, the genotype frequency of Lys/Lys was 6.67% in patients and 1.89% in controls at codon 420. A significant difference was found between control and patient groups in genotype frequencies at codon 420 (p<0.05). It was found that there might be an association between the vitamin D-binding protein gene and T2DM.

A number of animal disease models have been created in the past to investigate the molecular basis of neurological diseases and identify novel treatments, but their effectiveness has been limited by the absence of comparable animal models. There are still several important problems that need to be overcome, including the high expenses associated with creating animal models, ethical issues, and a lack of similarity to human disease. More than 90% of medications fail in the last stage of the human clinical trial as a result of inadequate early screening and assessment of the molecules. A novel strategy based on induced pluripotent stem cells has been developed to get around these restrictions (iPSCs). A new road map for clinical translational research and regeneration treatment has been made possible by the discovery of iPSCs. In this paper, we investigate the potential use of patient-derived iPSCs to neurological disorders as well as their significance in scientific and clinical studies for the creation of disease models and a road map for the next of medicine. The role of human iPSCs in the most prevalent neurodegenerative illnesses (such as Parkinson’s and Alzheimer’s disease, diabetic neuropathy) was evaluated. The patient-on-a-chip idea, where iPSCs may be cultivated on 3D matrices within microfluidic devices to produce an in vitro disease model for tailored medication, is another new development in the field of personalized medicine that we looked into.

In the twenty-first century, there still needs more clarity on rheumatoid arthritis (RA). Rheumatoid arthritis is a widespread but heterogeneous illness with a broad range in its history, clinical symptoms, and response to therapy. It is now known that prevention of joint destruction, functional impairment, and a poor disease prognosis depends on early, correct diagnosis and starting therapy with disease-modifying drugs (DMARDs), among which methotrexate (MTX) remains the gold standard in the treatment of RA. Early rheumatoid arthritis diagnosis is crucial since it enables a speedier start to primary therapy. Pharmacogenetic and pharmacogenomic research, which aid in identifying a patient’s genetic profile, may bring personalized treatment closer to reality. Identifying disease-specific genes while the organism’s resistance to them is still intact should be made feasible by further study into RA.