Oculomasticatory rhythmic movements, insomnia and stroke-like episodes in a patient with POLG mutation.

The POLG mutation, a leading cause of mitochondrial diseases, exhibits a wide-ranging age of onset and a complex clinical presentation. We encountered an atypical clinical profile in an elderly man with a POLG mutation, characterised by a stroke-like episode, chronic insomnia and transient oculomasticatory rhythmic movement. History revealed chronic constipation since his 50s and progressive bilateral ophthalmoplegia since his early 60s. Subsequently, he had experienced acute encephalopathy and later developed chronic insomnia. The present neurological examination showed bilateral complete ophthalmoplegia, ptosis, and rhythmic ocular and jaw movements. Imaging indicated findings suggestive of a stroke-like episode and eventual genetic analysis revealed a homozygous missense mutation in the POLG gene. This case expands the clinical spectrum of POLG mutations in individuals over 60 years, showcasing the rare combination of a stroke-like episode, chronic insomnia and oculomasticatory rhythmic movement.

Does serum kidney injury molecule-1 predict early diabetic nephropathy: A comparative study with microalbuminuria.

Introduction: Diabetic nephropathy (DN) is a multifactorial disease, one of the most common complications of diabetes and a major cause of chronic kidney disease. Kidney injury molecule-1 (KIM-1) is a sensitive and specific marker of kidney injury as well as a predictor of prognosis. Objective: The present study aimed to investigate the usefulness of serum KIM-1 as an early marker of DN. Patients and Methods: The present study included total 75 participants, among whom 25 nondiabetic participants were chosen as controls. The 50 diabetic participants were divided into two groups according to urine protein/creatinine ratio (UPCR) as participants with normoalbuminuria (T2DM patients without nephropathy) and microalbuminuria (T2DM patients with nephropathy). The complete blood count, blood glucose, HbA1c, serum electrolytes, and creatinine levels were measured using standard laboratory techniques, and serum KIM-1 levels were measured by sandwich enzyme-linked immunosorbent assay. Results: There was a significant difference in the mean serum KIM-1 between the control and diabetics without microalbuminuria (P = 0.0001). Patients with longer duration of diabetes had a higher serum KIM-1 values (P = 0.05 in DM without microalbuminuria; P = 0.007 for DM with microalbuminuria). Serum KIM-1 did not correlate with UPCR in controls (P = ‒0.167), in diabetics with microalbuminuria (P = 0.487). However, there was a significant correlation observed between UPCR and serum KIM-1 in diabetics without microalbuminuria (P = 0.04). Conclusion: The present study observed significantly increased levels of serum KIM-1 in both the diabetic groups compared to controls. Moreover, serum KIM-1 positively correlated with the duration of diabetes. Therefore, serum KIM-1 may be used as an early diagnostic marker to predict nephropathy among diabetes in our population.