10 Works

Data from: Clinical presentation and management of SMART syndrome

Sebastian F. Winter, Joshua P. Klein, Eugene J. Vaios, Philipp Karschnia, Eudocia Q. Lee, Helen A. Shih, Franziska Loebel & Jorg Dietrich
Stroke-like migraine attacks after radiation therapy (SMART) syndrome represents a rare but serious condition manifesting years after cranial radiation therapy (RT). Characterized by migraine-type headaches, stroke-like deficits and/or seizures and MR imaging abnormalities, including cortical gyriform enhancement in irradiated brain regions, SMART remains diagnostically and therapeutically challenging. Distinction from tumor progression is difficult and treatment options are limited. Although frequently reversible, SMART episodes can recur and effectuate persistent neurologic and/or imaging sequelae.

Rare missense functional variants at COL4A1 and COL4A2 in sporadic intracerebral hemorrhage

Jaeyoon Chung, Graham Hamilton, Minsup Kim, Sandro Marini, Bailey Montgomery, Jonathan Henry, Art Cho, Devin Brown, Bradford Worrall, James Meschia, Scott Silliman, Magdy Selim, David Tirschwell, Chelsea Kidwell, Brett Kissela, Steven Greenberg, Anand Viswanathan, Joshua Goldstein, Carl Langefeld, Kristiina Rannikmae, Catherine Sudlow, Neshika Samarasekera, Mark Rodrigues, Rustam Salman, James Prendergast … & Christopher Anderson
Objective To test the genetic contribution of rare missense variants in COL4A1 and COL4A2 in which common variants are genetically associated with sporadic intracerebral hemorrhage (ICH), we performed rare variant analysis in multiple sequencing data for the risk for sporadic ICH. Methods We performed sequencing across 559Kbp at 13q34 including COL4A1 and COL4A2 among 2,133 individuals (1,055 ICH cases; 1,078 controls) in US-based and 1,492 individuals (192 ICH cases; 1,300 controls) from Scotland-based cohorts, followed...

Data from: Activation of autophagy during normothermic machine perfusion of discarded livers is associated with improved hepatocellular function

Anders Ohman, Siavash Raigani, John Santiago, Megan Heaney, Joan Boylan, Nicola Parry, Cailah Carroll, Sofia Baptista, Korkut Uygun, Phillip Gruppuso, Jennifer Sanders & Heidi Yeh
Liver transplantation is hampered by a severe shortage of donor organs. Normothermic machine perfusion (NMP) of donor livers allows dynamic preservation in addition to viability assessment prior to transplantation. Little is known about the injury and repair mechanisms induced during NMP. To investigate these mechanisms, we examined gene and protein expression changes in a cohort of discarded human livers, stratified by hepatocellular function, during NMP. Six human livers acquired through donation after circulatory death (DCD)...

Skeletal Muscle and Peripheral Nerve Histopathology in COVID-19

Joome Suh, Shibani Mukerji, Sarah Collens, Robert Padera, Geraldine Pinkus, Anthony Amato & Isaac Solomon
To explore the spectrum of skeletal muscle and nerve pathology of patients who died following SARS-CoV-2 infection and assess for direct viral invasion of these tissues. Psoas muscle and femoral nerve were sampled from 35 consecutive autopsies of patients who died following SARS-CoV-2 infection and 10 SARS-CoV-2-negative controls were examined under light microscopy. Clinical and laboratory data were obtained by chart review. In SARS-CoV-2-positive patients, mean age at death was 67.8 years (range 43-90 years)...

Sporadic pseudohypoparathyroidism type 1B in monozygotic twins: insights into the pathogenesis of methylation defects

Yamato Keidai, Yorihiro Iwasaki, Kanako Iwasaki, Sachiko Honjo, Murat Bastepe & Akihiro Hamasaki
Context: Sporadic pseudohypoparathyroidism type 1B (sporPHP1B) is an imprinting disease without a defined genetic cause, characterized by broad methylation changes in differentially methylated regions (DMRs) of the GNAS gene. Objective: This work aims to provide insights into the causative event leading to the GNAS methylation defects through comprehensive molecular genetic analyses of a pair of female monozygotic twins concordant for sporPHP1B who were conceived naturally i.e., without assisted reproductive techniques. Methods: Using the leukocyte genome...

Agreement rate data set for GENETEX manuscript

David Miller & Sophia Shalhout
Objectives: Clinico-Genomic Data (CGD) acquired through routine clinical practice has the potential to improve our understanding of clinical oncology. However, these data often reside in heterogeneous and semi-structured data, resulting in prolonged time-to-analyses. Materials and Methods: We created GENETEX: an R package and Shiny application for text mining genomic reports from EHR and direct import into REDCap®. Results: GENETEX facilitates the abstraction of CGD from EHR and streamlines capture of structured data into REDCap®. Its...

SnRNA sequencing defines signaling by RBC-derived extracellular vesicles in the murine heart

Nedyalka Valkov, Avash Das, Guoping Li & Saumya Das
Extracellular vesicles (EVs) mediate intercellular signaling by transferring their cargo to recipient cells, but the functional consequences of signaling are not fully appreciated. Red blood cell (RBC)-derived EVs are abundant in circulation and have been implicated in regulating immune responses. Here, we use a transgenic mouse model for fluorescence-based mapping of RBC-EV recipient cells to assess the role of this intercellular signaling mechanism in heart disease. Using fluorescent-based mapping, we detected an increase in RBC-EV-targeted...

Identification of the first Japanese family with PDX1-MODY (MODY4): a novel PDX1 frameshift mutation, clinical characteristics, and implications

Satoshi Yoshiji, Yukio Horikawa, Sodai Kubota, Mayumi Enya, Yorihiro Iwasaki, Yamato Keidai, Megumi Aizawa-Abe, Kanako Iwasaki, Sachiko Honjo, Kazuyoshi Hosomichi, Daisuke Yabe & Akihiro Hamasaki
Context The PDX1 encodes pancreatic and duodenal homeobox, a critical transcription factor for pancreatic β-cell differentiation and maintenance of mature β-cells. Heterozygous loss-of-function mutations cause PDX1-MODY (MODY4). Case description The patient is an 18-year-old lean man who developed diabetes at 16 years of age. Given his early-onset age and leanness, we performed genetic testing. Targeted-next generation sequencing and subsequent Sanger sequencing detected a novel heterozygous frameshift mutation (NM_00209.4:c.218delT. NP_000200.1: p.Leu73Profs*50) in the PDX1 transactivation domain...

Figure e-1.- Effect of APOE alleles on cognitive domain-specific composite measures.

Alberto Serrano-Pozo, Jing Qian, Rebecca Betensky & Bradley Hyman
Supplemental Figure of our original article "Association of APOE Genotype with Heterogeneity of Cognitive Decline Rate in Alzheimer's Disease" published in Neurology showing model 1-based trajectories of cognitive domain-specific composite measures by APOE genotype, as well as the difference of the APOEe2 and APOEe4 groups with respect to the APOEe3/e3 reference group.

Current status and future strategies for mentoring women in neurology

Christa San Luis Nobleza, Amtul Farheen, Ilena George, Divya Singhal, Regina Troxell, Jyoti Pillai, Logan Schneider, Catherine Lomen-Hoerth, Jennifer Graves & Stefano Sandrone
The American Academy of Neurology's (AAN) 2017 Gender Disparity Report identified improving mentorship as a key intervention to fill the leadership and pay gaps for women in neurology. Here we summarize the literature on mentoring women, provide an outline of ideal components of programs geared toward closing gender gaps, and present a mentoring program for AAN members. The strategies discussed share similarities with those for closing gaps related to race, ethnicity and religion. Developing effective...

Registration Year

  • 2021

Resource Types

  • Dataset


  • Massachusetts General Hospital
  • Brigham and Women's Hospital
  • Kitano Hospital
  • Charité
  • Rady Children's Hospital-San Diego
  • University of Washington
  • Stanford University
  • Lebanon VA Medical Center
  • University of Michigan–Ann Arbor
  • University of Glasgow