Primary focal segmental glomerulosclerosis in a patient with ankylosing spondylitis: A rare presentation requiring a broad differential in nephrotic syndrome.

Ankylosing spondylitis (AS) presents with renal failure and proteinuria in a minority of cases, usually due to secondary amyloidosis or IgA nephropathy. While focal segmental glomerulosclerosis (FSGS) is less common, it should still be in the differential regardless of the patient's clinical profile.

Targeting the chromatin effector Pygo2 promotes cytotoxic T cell responses and overcomes immunotherapy resistance in prostate cancer.

The noninflamed microenvironment in prostate cancer represents a barrier to immunotherapy. Genetic alterations underlying cancer cell-intrinsic oncogenic signaling are increasingly appreciated for their role in shaping the immune landscape. Recently, we identified Pygopus 2 () as the driver oncogene for the amplicon at 1q21.

Validating Coding for the Identification of Pediatric Treatment Resistant Epilepsy Patients.

The International Classification of Diseases (ICD) system includes sub codes to indicate that an individual with epilepsy is treatment resistant. These codes would be a valuable tool to identify individuals for quality improvement and population health, as well as for recruitment into clinical trials. However, the accuracy of these codes is unclear.

Improving time for administration of second-line antiseizure medications for children with generalized convulsive status epilepticus using quality improvement methodology.

Objective: Status epilepticus is a life-threatening neurological emergency. However, delay in median time to administration of second-line antiseizure medication exists. The aim of this quality improvement initiative was to decrease the average delay before fosphenytoin is administered for pediatric patients with generalized convulsive status epilepticus from 30 min (baseline data collected in 2013) to 15 min (50% reduction) by December 2015 and sustain this for 1 year.

CHD1 and SPOP synergistically protect prostate epithelial cells from DNA damage.

Background: Recent genomic profiling has identified a subtype of prostate cancer (PCa) characterized by two key genetic alterations: missense mutation of speckle-type POZ protein (SPOP) and homozygous deletion of chromodomain helicase DNA-binding protein 1 (CHD1). Mutually exclusive with E26 transformation-specific (ETS) rearrangements, this subtype displays high genomic instability. Previous studies indicate that deficient SPOP or CHD1 alone leads to feeble prostate abnormalities and each protein is involved in DNA damage response (DDR).

Evaluation of an Activity Tracker to Detect Seizures Using Machine Learning.

Currently, the tracking of seizures is highly subjective, dependent on qualitative information provided by the patient and family instead of quantifiable seizure data. Usage of a seizure detection device to potentially detect seizure events in a population of epilepsy patients has been previously done. Therefore, we chose the Fitbit Charge 2 smart watch to determine if it could detect seizure events in patients when compared to continuous electroencephalographic (EEG) monitoring for those admitted to an epilepsy monitoring unit.

Measuring the impact of epilepsy on families.

Objective: Caring for a child with illness or a child with disability impacts family in various ways. The ability to assess the impact of this care on families is one way to proactively provide the necessary support and resources for impacted families. Accordingly, the goal of the current study was to assess the impact of pediatric epilepsy on individual families in a comprehensive epilepsy clinic using a slightly modified version of the Impact on Families Scale (IFS).

A Case of Neonatal Seizures With an Unusual Electroclinical Pattern.

Benign familial neonatal epilepsy is a syndrome characterized by recurrent seizures occurring in the neonatal period. Seizures commonly begin at day 3 of life and usually abate by 1 to 4 months of life. Seizures are usually described as tonic with an asymmetric component with associated autonomic features.