ABSTRACT
Anti-N-methyl-D-aspartate receptor (NMDAr) encephalitis is a prevalent autoimmune condition marked by diverse neuropsychiatric symptoms, primarily impacting young females. The exact mechanisms underlying the development of NMDAr encephalitis have not been fully elucidated. Nonetheless, studies have demonstrated that auto-antibodies targeting the NR1-NR2 subunits of the NMDAr can trigger receptor dysfunction within the central nervous system, thus giving rise to the associated symptoms. Notably, an association exists between NMDAr encephalitis and an underlying neoplastic condition, with approximately 38% of cases exhibiting this paraneoplastic relationship with ovarian teratomas being the most commonly associated malignancy. While the association between NMDAr encephalitis and renal cell carcinoma (RCC) is exceedingly rare. This case report presents the clinical scenario of a 20-year-old female patient diagnosed with NMDAr encephalitis in conjunction with RCC discovered incidentally on a CT abdomen and pelvis performed to rule out an ovarian teratoma. The presented case underscores the importance of adopting a multidisciplinary approach in the diagnosis and treatment of NMDAr encephalitis, particularly when it is linked to an underlying malignancy. Furthermore, it emphasizes the significance of expanding our understanding of the molecular pathogenesis of NMDAr encephalitis to enhance patient care and optimize clinical outcomes. Additionally, a comprehensive review of the existing literature is included, summarizing all reported malignancies associated with NMDAr encephalitis.
ABSTRACT
INTRODUCTION: Warfarin has been in use for more than 60 years; however, it has serious side effects including major bleeding. The high interpatient variability in the required dose impacts the sensitivity and responsiveness to warfarin in different patients. This study aims to assess the influence of CDHR3, CACNAC1, and LTA gene polymorphisms on the variability of warfarin dose requirements and susceptibility to coronary heart disease in the Jordanian population. METHODS: This study was conducted in the anti-coagulation clinic in Queen Alia Heart Institute in Amman, with 212 patients in total. Three SNPs were genotyped within CDHR3 (rs10270308), CACNAC1 (rs216013), and LTA (rs1041981) genes. RESULTS: Our findings revealed that patients with LTA polymorphism are more prone to warfarin sensitivity than others. Furthermore, carriers of the LTA polymorphism needed a lower initial dose of warfarin and are associated with less variation in doses required to achieve target INR. CONCLUSION: The current study could help in understanding the role of genetic variability in warfarin dosing and matching patients to different treatment options. Clinical applications of these findings for warfarin treatment may also contribute to improving the efficacy and safety of warfarin treatment in Jordanian patients with cardiovascular disease.
