Polygenic Risk Scores Augment Stroke Subtyping.

Objective: To determine whether the polygenic risk score (PRS) derived from MEGASTROKE is associated with ischemic stroke (IS) and its subtypes in an independent tertiary health care system and to identify the PRS derived from gene sets of known biological pathways associated with IS.

Methods: Controls (n = 19,806/7,484, age ≥69/79 years) and cases (n = 1,184/951 for discovery/replication) of acute IS with European ancestry and clinical risk factors were identified by leveraging the Geisinger Electronic Health Record and chart review confirmation. All Geisinger MyCode patients with age ≥69/79 years and without any stroke-related diagnostic codes were included as low risk control.

Increasing the Density of Laboratory Measures for Machine Learning Applications.

Background: The imputation of missingness is a key step in Electronic Health Records (EHR) mining, as it can significantly affect the conclusions derived from the downstream analysis in translational medicine. The missingness of laboratory values in EHR is not at random, yet imputation techniques tend to disregard this key distinction. Consequently, the development of an adaptive imputation strategy designed specifically for EHR is an important step in improving the data imbalance and enhancing the predictive power of modeling tools for healthcare applications.

Delayed Stevens-Johnson Syndrome Secondary to the Use of Lamotrigine in Bipolar Mood Disorder.

Lamotrigine is a mood-stabilizing drug used in maintenance treatment of bipolar I disease. There are adverse effects with lamotrigine such as a headache, blurred vision, diplopia, somnolence, ataxia, dizziness, rash, Stevens-Johnson syndrome (SJS), and toxic epidermal necrolysis. SJS is a life-threatening, blistering mucocutaneous disease.

gene mutations in a 36-year-old female presenting with psychosis.

Summary: Combined pituitary hormonal deficiency (CPHD) is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells. gene mutations are one of the etiological diagnoses of congenital panhypopituitarism, however symptoms vary depending on phenotypic expression. We present a case of psychosis in a 36-year-old female with congenital panhypopituitarism who presented with paranoia, flat affect and ideas of reference without a delirious mental state, which resolved with hormone replacement and antipsychotics.