Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979 deeply phenotyped patients from multiple genetic ancestry groups with diverse epilepsy subtypes and 33,444 controls, to investigate rare variants that confer disease risk. These analyses implicate seven individual genes, three gene sets, and four copy number variants at exome-wide significance.

Case Study: Mapping Evoked Fields in Primary Motor and Sensory Areas Magnetoencephalography in Tetraplegia.

Devices interfacing with the brain through implantation in cortical or subcortical structures have great potential for restoration and rehabilitation in patients with sensory or motor dysfunction. Typical implantation surgeries are planned based on maps of brain activity generated from intact function. However, mapping brain activity for planning implantation surgeries is challenging in the target population due to abnormal residual function and, increasingly often, existing MRI-incompatible implanted hardware.

Decoding Neural Activity in Sulcal and White Matter Areas of the Brain to Accurately Predict Individual Finger Movement and Tactile Stimuli of the Human Hand.

Millions of people worldwide suffer motor or sensory impairment due to stroke, spinal cord injury, multiple sclerosis, traumatic brain injury, diabetes, and motor neuron diseases such as ALS (amyotrophic lateral sclerosis). A brain-computer interface (BCI), which links the brain directly to a computer, offers a new way to study the brain and potentially restore impairments in patients living with these debilitating conditions. One of the challenges currently facing BCI technology, however, is to minimize surgical risk while maintaining efficacy.

Coercive Control in Intimate Partner Violence: Relationship with Women's Experience of Violence, Use of Violence, and Danger.

Objective: The objective of this study was to better understand the experience of coercive control as a type of IPV by examining associations between coercive control and women's experiences of particular forms of violence, use of violence, and risk of future violence.

Method: As part of a larger research study, data were collected from 553 women patients at two hospital emergency departments who had experienced recent IPV and unhealthy drinking. Baseline assessments, including measures of coercive control, danger, and experience and use of psychological, physical, and sexual forms of IPV in the prior three months were analyzed.

Resting state functional connectivity patterns associated with pharmacological treatment resistance in temporal lobe epilepsy.

There are no functional imaging based biomarkers for pharmacological treatment response in temporal lobe epilepsy (TLE). In this study, we investigated whether there is an association between resting state functional brain connectivity (RsFC) and seizure control in TLE. We screened a large database containing resting state functional magnetic resonance imaging (Rs-fMRI) data from 286 epilepsy patients.

APOL1 risk variants cause podocytes injury through enhancing endoplasmic reticulum stress.

Two coding sequence variants (G1 and G2) of Apolipoprotein L1 () gene have been implicated as a higher risk factor for chronic kidney diseases (CKD) in African Americans when compared with European Americans. Previous studies have suggested that the APOL1 G1 and G2 variant proteins are more toxic to kidney cells than the wild-type APOL1 G0, but the underlying mechanisms are poorly understood. To determine whether endoplasmic reticulum (ER) stress contributes to podocyte toxicity, we generated human podocytes (HPs) that stably overexpressed APOL1 G0, G1, or G2 (Vec/HPs, G0/HPs, G1/HPs, and G2/HPs).

Nicotine enhances mesangial cell proliferation and fibronectin production in high glucose milieu via activation of Wnt/β-catenin pathway.

Diabetic nephropathy (DN) is a major complication of diabetes mellitus. Clinic reports indicate cigarette smoking is an independent risk factor for chronic kidney disease including DN; however, the underlying molecular mechanisms are not clear. Recent studies have demonstrated that nicotine, one of the active compounds in cigarette smoke, contributes to the pathogenesis of the cigarette smoking-accelerated chronic kidney disease.

National disparities in treatment package time for resected locally advanced head and neck cancer and impact on overall survival.

Background: The purpose of this study was to determine national disparities in head and neck cancer treatment package time (the time interval from surgery through the completion of radiation) and the associated impact on survival.

Methods: We conducted an observational cohort study using the National Cancer Database of 15 234 patients with resected head and neck cancer who underwent adjuvant radiotherapy from 2004-2012. Predictors of prolonged package time were identified by multivariable linear regression.

Hedgehog pathway plays a vital role in HIV-induced epithelial-mesenchymal transition of podocyte.

HIV-associated nephropathy (HIVAN) is characterized by heavy proteinuria, rapidly progressive renal failure, and distinct morphological features in the kidney. HIV-induced epithelial-mesenchymal transition (EMT) is critically important for the progression of kidney injury. In this study, we tested the role of hedgehog pathway in the HIV-induced EMT and fibrosis of kidney.

Pennsylvania's Medical Home Initiative: Reductions in Healthcare Utilization and Cost Among Medicaid Patients with Medicaland Psychiatric Comorbidities.

Background: The Chronic Care Initiative (CCI) was a large state-wide patient-centered medical home (PCMH) initiative in Pennsylvania in place from 2008-2011.

Objective: Determine whether the CCI impacted the utilization and costs for Medicaid patients with chronic medical conditions and comorbid psychiatric or substance use disorders.

Design: Analysis of Medicaid claims using difference-in-difference regression analyses to compare changes in utilization and costs for patients treated at CCI practices to propensity score-matched patients treated at comparison non-CCI practices.