Von Hippel-Lindau disease is an autosomal dominant disorder characterised by renal cell carcinomas, pancreatic neuroendocrine tumours, central nervous system hemangioblastomas, retinoblastomas, and tumours of the reproductive tract. This disease results from loss of function mutations in the tumour suppressor gene known as the Von Hippel-Lindau gene, located on chromosome 3. Loss of function mutation in the Von Hippel-Lindau gene results in the accumulation of a protein known as a hypoxia-inducible factor, which promotes cellular proliferation and angiogenesis, leading to cancer. Belzutifan inhibits the hypoxia-inducible factor by binding to the Per-ARNT -Sim-B binding pocket on the hypoxia-inducible factor -2α, inhibiting cellular proliferation and angiogenesis. In our thorough literature review, we identified 37 relevant articles. Belzutifan showed clinically meaningful response rates for both Von Hippel-Lindau disease-associated renal cell carcinomas and non-renal cell cancers. The pharmacokinetic profile of belzutifan was much better than its congener molecules due to the optimisation of its dihalide groups from germinal to vicinal. The pharmacodynamic effect of belzutifan was confirmed by its ability to decrease serum erythropoietin, which is a direct result of hypoxia-inducible factor- 2α inhibition. The significant side effects observed were anaemia, hypoxia, fatigue, hypertension, visual impairment and weight gain. Multiple clinical trials are currently underway to determine the role of beluztifan as part of combination regimens in treating Von Hippel-Lindau disease-associated malignancies.

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Breast cancer is the most commonly occurring neoplasm in women, which can be curable as well as can reduce the recurrence of cancer, with the help of various multidisciplinary approaches and thereby decrease the morbidity as well as mortality. Chemotherapy is a well-defined therapeutic approach for breast cancer, but cardiotoxicity is the most potential side-effect associated with chemotherapeutic drugs. Doxorubicin, along with cyclophosphamide, produces serious cardiotoxicity due to potential drug interaction. It is a case of a 63-year-old female patient post-menopausal with k/c/o type 2 diabetic Mellitus on medication. Clinically and radiologically, she was diagnosed with carcinoma left breast (IMC grade III, TNBC, CT2N0Mx). She underwent breast-conserving surgery (BCS) or lumpectomy without reconstruction. The HPE report suggestive of infiltrating mammary carcinoma NST grade 3. She was currently on adjuvant chemotherapy IInd cycle. Post chemotherapy, she was admitted with complaints of chest discomfort and chest pain. Screening ECHO showed grade I diastolic dysfunction and also the cardiac enzymes and cardiac marker troponins I was found to be elevated. She had undergone CAG for risk stratification. She was thought to have chemotherapy-induced cardiotoxicity associated with atypical chest pain and was advised medical follow up. Doxorubicin and cyclophosphamide-induced cardiac dysfunction and associated adverse events can be prevented or minimized with dose modification, use of cardioprotective drugs, identifying patient-related risk factors and regular cardiac monitoring of the patient receiving chemotherapy with doxorubicin and cyclophosphamide in breast cancer treatment.

Diseases of the nervous system are always associated with poor prognosis and limited treatment options. The fragile nature of the neurons and their inability to replicate means that neurological disorders are associated with a permanent disability. Pharmacotherapy of neurological diseases requires understanding the molecular mechanisms involved in the disease pathology. In most of the cases a faulty cellular biochemical pathway is involved, resulting from a defective enzyme. This article focusses on role of enzymes in various neurological disorders. To review pertinent literature and summarise the role of enzymes in the underlying pathology of various neurological disorders. A comprehensive literature search was conducted using PubMed, SCOPUS, J-GATE and Google Scholar and relevant papers were collected using the keywords enzymes, Alzheimer's disease, redox, thiamine, depression, neurotransmitters, epileptogenesis. The literature review highlighted the role of enzymes in major neurological disorders and their potential to be used as drug targets and biomarkers. Identifying defective enzymes gives us new molecular targets to focus on for developing more effective pharmacotherapeutic options. They can be also considered as potential biomarkers. An abnormal enzyme is most often a direct result of an underlying genetic abnormality. Identifying and screening for these genetic abnormalities can be used in early identification and prevention of disease in individuals who have a genetic predisposition. The modern advances in genetic engineering shows a lot of promise in correcting these abnormalities and development of revolutionary cures although ethical concerns remain.