Stephanie Chen - Academia.edu (original) (raw)
Papers by Stephanie Chen
Prenatal Cardiology, 2020
Introduction: Prenatal diagnosis of congenital heart disease (CHD) can best achieve decreases in ... more Introduction: Prenatal diagnosis of congenital heart disease (CHD) can best achieve decreases in perinatal mortality and improvements in preoperative clinical status when combined with risk stratification and active perinatal management. This study assessed implementation of a four-tier risk classification system for prenatally diagnosed CHD based on the need for emergent neonatal cardiac intervention (ENCI), each with specific perinatal care recommendations. Material and methods: Prenatally diagnosed fetuses with CHD were risk stratified, and fetal, perinatal and postnatal data were collected with the primary aim to assess risk stratification accuracy. Secondary aims assessed adherence to perinatal management recommendations and evaluation of outcomes compared to a non-risk stratified historical cohort. Results: The study cohort comprised 84 patients prenatally diagnosed with CHD with assigned ENCI level. This included ENCI level 1 (n = 4), level 2 (n = 16), level 3 (n = 50), and level 4 (n = 14). Cardiac intervention was performed emergently in 8 cases (9.5%), non-emergently in neonates in 56 cases (67%), and before one year of age in an additional 15 cases (18%). Our classification system correctly risk stratified 90.4% (76/84) of infants with CHD based on their need for neonatal cardiac intervention. No ENCI level 1 or 2 risk stratified infants required neonatal intervention, and only one of the 50 ENCI level 3 cases required an unanticipated ENCI. Thus, the ENCI classification system correctly identified 98.5% (69/70) of patients who did not require emergent neonatal cardiac intervention in the first 48 hours of life. For perinatal management recommendations, the delivery notifications were appropriately sent 94% of the time, neonatology was present for 99% of recommended deliveries, and PGE was started according to recommendations in 93% (53/57) of ENCI level 3 and 4 cases. The ENCI cohort (2012-2014) compared to an earlier non-risk stratified cohort of 146 patients (2008-2011) showed no difference in survival (p = 0.66) or hospital length of stay (p = 0.19). Conclusions: Implementation of our prenatal risk stratification system accurately predicted the need for emergent neonatal cardiac intervention, and adherence to perinatal management recommendations was high.
Proceedings of the Human Factors and Ergonomics Society Annual Meeting, 2019
How team cognition is conceptualized has evolved rapidly in the last decade with the emerging use... more How team cognition is conceptualized has evolved rapidly in the last decade with the emerging use of a systems approach, moving the focus from the cognition residing in the heads of individuals, to that distributed across the team. This is referred to as ‘distributed cognition’. Increasingly, network approaches are being explored in attempts to model team distributed cognition. The specific domain of interest in the present study is the sociotechnical system within a maritime control room. This comprises human, machine and software agents interacting to interpret sensor data in order to develop a timely and accurate picture of surrounding contacts at sea. To achieve the goal, information is shared or integrated across the maritime control room consoles. The aim of this study was to develop and apply a suite of workload, situation awareness and team performance measures, including network analysis techniques, to examine how the distributed cognition of a team might change as a functi...
ABSTRACTEpilepsy is a global epidemic and 30% of the 60 million patients do not respond to medica... more ABSTRACTEpilepsy is a global epidemic and 30% of the 60 million patients do not respond to medication treatment. The only treatment options for patients with medically refractory epilepsy are surgical removal or electrical stimulation of the epileptogenic zone (EZ) i.e. the source of their seizures. Despite extensive evaluations with neuroimaging, visual EEG analysis and clinical testing, surgical success rates vary between 30-70%. Currently, no computational methods have been translated into the clinic to assist in localizing the EZ. Here, we applied a dynamical network model that quantifies the fragility of nodes within a patient’s intracranial EEG (iEEG) brain network. Fragility is quantified as the minimal amount of perturbation that must to be applied to a node’s influence on a “balanced” network to cause imbalance. Here, a balanced network is one in which the connectivity between excitatory and inhibitory nodes render a stable system, and an imbalanced network is unstable and ...
Foot & Ankle International, 2019
B15. IMMUNOTHERAPY FOR LUNG DISEASE, 2019
This is a PDF file of an article that has undergone enhancements after acceptance, such as the ad... more This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
Frontiers in neurology, 2017
Ischemic stroke is a rare condition to afflict the pediatric population. Congenital cardiomyopath... more Ischemic stroke is a rare condition to afflict the pediatric population. Congenital cardiomyopathy represents one of several possible etiologies in children. We report a 9-year-old boy who developed right middle cerebral artery stroke secondary to primary restrictive cardiomyopathy. In the absence of pediatric guidelines, the child met adult criteria for mechanical thrombectomy given the small core infarct and large penumbra. The literature suggests children may benefit from mechanical thrombectomy in carefully selected cases. Our patient exemplifies specific circumstances in which acute stroke therapy with thrombolysis and thrombectomy may be safe.
Journal of Neurosurgery: Spine, 2018
Anterior sacral meningoceles (ASMs) are rare lesions often associated with connective tissue diso... more Anterior sacral meningoceles (ASMs) are rare lesions often associated with connective tissue disorders. These lesions are typically treated posteriorly via closure of the dural stalk. However, given their insidious nature, ASMs can be quite large on presentation, and this approach may not provide adequate decompression. In this case report, the authors describe the successful treatment of a large ASM through drainage and watertight closure of the cyst with an omental flap.A 43-year-old woman with a history of Marfan syndrome and a large ASM was referred for neurosurgical intervention. The ASM was filling the pelvic cavity and causing severe compression of the bladder. The patient underwent surgical decompression of the cyst through an anterior transabdominal approach and closure of the fistulous tract with a pedicled omental flap. This is the first reported case of successful closure of an ASM with an omental flap. At the 6-month follow-up, the ASM had not recurred on imaging and th...
Journal of clinical hypertension (Greenwich, Conn.), 2018
Real-world tolerability and effectiveness of nebivolol as first add-on therapy were compared with... more Real-world tolerability and effectiveness of nebivolol as first add-on therapy were compared with hydrochlorothiazide, metoprolol, and amlodipine. Medical records of hypertensive adults initiating nebivolol, hydrochlorothiazide, metoprolol, or amlodipine as first add-on therapy between December 16, 2010 and July 21, 2011 were retrospectively abstracted (N = 1600; 400/treatment). Outcomes included medication-related side-effect rates and blood pressure (BP) reduction and control. Compared with nebivolol, metoprolol and amlodipine had significantly higher side-effect rates (incidence rate ratio [95% CI]: 1.82 [1.14-2.92] and 2.67 [1.69-4.21]), respectively); the hydrochlorothiazide-nebivolol rate ratio was not significant (1.61 [0.95-2.71]). All treatments reduced BP at 2 months. Metoprolol, amlodipine, and hydrochlorothiazide were associated with significantly lower odds of achieving 2-month BP control than nebivolol (odds ratios [95% CI]: 0.34 [0.23-0.51], 0.51 [0.35-0.75] and 0.66 ...
Journal of the American College of Cardiology, 2017
Background: Physiologic changes due to hyperthyroidism can unmask symptomatic anomalous coronary ... more Background: Physiologic changes due to hyperthyroidism can unmask symptomatic anomalous coronary arteries. Case: A 38-year-old female, nine months post-partum, presented with squeezing chest pain for the past two months. This was exacerbated by exertion and lying supine. She had resting tachycardia and a four pound weight loss since pregnancy. Her electrocardiogram showed dynamic ST depressions in the inferolateral leads and a peak troponin of 0.42. A cardiac catheterization revealed no stenosis, but difficulty with selective cannulation of the right coronary artery (RCA) was suspicious for an anomalous origin. A cardiac CT revealed a dominant RCA with an acute angle takeoff from the left coronary sinus and severe narrowing between the aorta and pulmonary artery. Other tests resulted in an undetectable TSH and free T4 of 3.7. Decision-Making: An anomalous origin of the RCA is often asymptomatic. However, postpartum hyperthyroidism provided a physiologic stress test that increased cardiac output by 50 to 300% and decreased diastolic coronary perfusion pressure. The increase in pulsatility of the ascending aorta and pulmonary arterial pressures worsened compression of the inter-arterial segment of the anomalous RCA. She was managed with methimazole, IV hydrocortisone to prevent thyroid storm, and surgical revascularization. Conclusions: Hyperthyroidism increases cardiac output and pulmonary arterial pressures, leading to ischemia of an anomalous coronary artery with an inter-arterial course.
Community mental health journal, Aug 24, 2017
Interventions are needed to address frailty and other behaviors (e.g., drug and alcohol use) amon... more Interventions are needed to address frailty and other behaviors (e.g., drug and alcohol use) among prefrail and frail homeless women (P/FHW). The purpose of this pilot randomized controlled trial (RCT) was to compare the efficacy of a Frailty Intervention (FI) versus a Health Promotion (HP) program among P/FHW (N = 32). Structured instruments assessed sociodemographics, individual, situational, health-related, and behavioral factors. While program differences were not statistically significant with the main outcome variables, medium-to-large effect sizes were found in favor of the HP program as it relates to physical and overall frailty, as well as, any drug use, alcohol use, and drug dependency. Based on these findings, it is critical to strengthen the HP program to optimize all domains of frailty (e.g., physical, psychological, and social) and substance use for P/FHW.
The patient, Aug 17, 2017
Methods for discrete choice experiment (DCE) attribute and attribute-level selection have not yet... more Methods for discrete choice experiment (DCE) attribute and attribute-level selection have not yet been firmly established and are rarely reported in detail. This paper describes a qualitative study designed to inform the development of a DCE survey designed to examine preferences for glucagon-like peptide-1 receptor agonist (GLP-1RA) treatments among patients with type 2 diabetes mellitus. The study involved a literature review, interviews with clinical experts, and interviews with GLP-1RA-experienced (i.e., exenatide once weekly, liraglutide once daily) and injection-naïve type 2 diabetes patients from Brazil, China, Germany, Japan, and the UK. Interviews followed a semi-structured guide including open-ended questions, and probes to capture the patients' perspective on important aspects of GLP-1RAs and concerns with injectable treatments. Qualitative analyses were performed utilizing MAXQDA version 11. Descriptive statistics were used to summarize the sample. Thirty-two article...
Breast cancer research : BCR, Nov 11, 2016
Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheter... more Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1…
Journal of Neurosurgery: Spine, 2016
Pudendal nerve schwannomas are very rare, with only two cases reported in the English-language li... more Pudendal nerve schwannomas are very rare, with only two cases reported in the English-language literature. The surgical approaches described in these two case reports are the transgluteal approach and the laparoscopic approach. The authors present the case of a patient with progressive pelvic pain radiating ipsilaterally into her groin, vagina, and rectum, who was subsequently found to have a pudendal schwannoma. The authors used a transischiorectal fossa approach and intraoperative electrophysiological monitoring and successfully excised the tumor. This approach has the advantage of direct access to Alcock's canal with minimal disruption of the pelvic muscles and ligaments. The patient experienced complete relief of her pelvic pain after the procedure.
PLOS ONE, 2016
A major weakness in many high-throughput genomic studies is the lack of consideration of a clinic... more A major weakness in many high-throughput genomic studies is the lack of consideration of a clinical environment where one patient at a time must be evaluated. We examined generalizable and platform-specific sources of variation from NanoString gene expression data on both ovarian cancer and Hodgkin lymphoma patients. A reference-based strategy, applicable to single-patient molecular testing is proposed for batch effect correction. The proposed protocol improved performance in an established Hodgkin lymphoma classifier, reducing batch-to-batch misclassification while retaining accuracy and precision. We suggest this strategy may facilitate development of NanoString and similar molecular assays by accelerating prospective validation and clinical uptake of relevant diagnostics.
Assistant Monitoring Program Manager Tripp McCandlish manages the data collection and processing ... more Assistant Monitoring Program Manager Tripp McCandlish manages the data collection and processing of all photos for the project's permanent plot photo monitoring. OEI Biologist Toby Rohmer customized the dot density symbologies in ArcGIS that allowed for the production of site maps showing the actual net area footprint of invasive Spartina, and was responsible for the production of all site maps in this report.
Molecular pharmacology, Jan 5, 2015
Activation of the inositol-requiring enzyme-1 alpha (IRE1α) protein caused by endoplasmic reticul... more Activation of the inositol-requiring enzyme-1 alpha (IRE1α) protein caused by endoplasmic reticulum (ER) stress results in the homodimerization of the N-terminal ER luminal domains, autophosphorylation of the cytoplasmic kinase domains, and conformational changes to the cytoplasmic endoribonuclease (RNase) domains which render them functional and can lead to the splicing of XBP1 mRNA. Herein we report the first crystal structures of the cytoplasmic portion of a human phosphorylated IRE1α dimer in complex with GSK2850163, a novel, IRE1α-selective kinase inhibitor, and with staurosporine (STS), a broad spectrum kinase inhibitor. GSK2850163 inhibits both the kinase and RNAse activities of IRE1α. The inhibitor interacts with the catalytic residues Lys599 and Glu612 and displaces the kinase activation loop to the DFG-out conformation. Inactivation of IRE1α RNAse activity appears to be caused by a conformational change whereby the αC helix is displaced resulting in the rearrangement of th...
Prenatal Cardiology, 2020
Introduction: Prenatal diagnosis of congenital heart disease (CHD) can best achieve decreases in ... more Introduction: Prenatal diagnosis of congenital heart disease (CHD) can best achieve decreases in perinatal mortality and improvements in preoperative clinical status when combined with risk stratification and active perinatal management. This study assessed implementation of a four-tier risk classification system for prenatally diagnosed CHD based on the need for emergent neonatal cardiac intervention (ENCI), each with specific perinatal care recommendations. Material and methods: Prenatally diagnosed fetuses with CHD were risk stratified, and fetal, perinatal and postnatal data were collected with the primary aim to assess risk stratification accuracy. Secondary aims assessed adherence to perinatal management recommendations and evaluation of outcomes compared to a non-risk stratified historical cohort. Results: The study cohort comprised 84 patients prenatally diagnosed with CHD with assigned ENCI level. This included ENCI level 1 (n = 4), level 2 (n = 16), level 3 (n = 50), and level 4 (n = 14). Cardiac intervention was performed emergently in 8 cases (9.5%), non-emergently in neonates in 56 cases (67%), and before one year of age in an additional 15 cases (18%). Our classification system correctly risk stratified 90.4% (76/84) of infants with CHD based on their need for neonatal cardiac intervention. No ENCI level 1 or 2 risk stratified infants required neonatal intervention, and only one of the 50 ENCI level 3 cases required an unanticipated ENCI. Thus, the ENCI classification system correctly identified 98.5% (69/70) of patients who did not require emergent neonatal cardiac intervention in the first 48 hours of life. For perinatal management recommendations, the delivery notifications were appropriately sent 94% of the time, neonatology was present for 99% of recommended deliveries, and PGE was started according to recommendations in 93% (53/57) of ENCI level 3 and 4 cases. The ENCI cohort (2012-2014) compared to an earlier non-risk stratified cohort of 146 patients (2008-2011) showed no difference in survival (p = 0.66) or hospital length of stay (p = 0.19). Conclusions: Implementation of our prenatal risk stratification system accurately predicted the need for emergent neonatal cardiac intervention, and adherence to perinatal management recommendations was high.
Proceedings of the Human Factors and Ergonomics Society Annual Meeting, 2019
How team cognition is conceptualized has evolved rapidly in the last decade with the emerging use... more How team cognition is conceptualized has evolved rapidly in the last decade with the emerging use of a systems approach, moving the focus from the cognition residing in the heads of individuals, to that distributed across the team. This is referred to as ‘distributed cognition’. Increasingly, network approaches are being explored in attempts to model team distributed cognition. The specific domain of interest in the present study is the sociotechnical system within a maritime control room. This comprises human, machine and software agents interacting to interpret sensor data in order to develop a timely and accurate picture of surrounding contacts at sea. To achieve the goal, information is shared or integrated across the maritime control room consoles. The aim of this study was to develop and apply a suite of workload, situation awareness and team performance measures, including network analysis techniques, to examine how the distributed cognition of a team might change as a functi...
ABSTRACTEpilepsy is a global epidemic and 30% of the 60 million patients do not respond to medica... more ABSTRACTEpilepsy is a global epidemic and 30% of the 60 million patients do not respond to medication treatment. The only treatment options for patients with medically refractory epilepsy are surgical removal or electrical stimulation of the epileptogenic zone (EZ) i.e. the source of their seizures. Despite extensive evaluations with neuroimaging, visual EEG analysis and clinical testing, surgical success rates vary between 30-70%. Currently, no computational methods have been translated into the clinic to assist in localizing the EZ. Here, we applied a dynamical network model that quantifies the fragility of nodes within a patient’s intracranial EEG (iEEG) brain network. Fragility is quantified as the minimal amount of perturbation that must to be applied to a node’s influence on a “balanced” network to cause imbalance. Here, a balanced network is one in which the connectivity between excitatory and inhibitory nodes render a stable system, and an imbalanced network is unstable and ...
Foot & Ankle International, 2019
B15. IMMUNOTHERAPY FOR LUNG DISEASE, 2019
This is a PDF file of an article that has undergone enhancements after acceptance, such as the ad... more This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
Frontiers in neurology, 2017
Ischemic stroke is a rare condition to afflict the pediatric population. Congenital cardiomyopath... more Ischemic stroke is a rare condition to afflict the pediatric population. Congenital cardiomyopathy represents one of several possible etiologies in children. We report a 9-year-old boy who developed right middle cerebral artery stroke secondary to primary restrictive cardiomyopathy. In the absence of pediatric guidelines, the child met adult criteria for mechanical thrombectomy given the small core infarct and large penumbra. The literature suggests children may benefit from mechanical thrombectomy in carefully selected cases. Our patient exemplifies specific circumstances in which acute stroke therapy with thrombolysis and thrombectomy may be safe.
Journal of Neurosurgery: Spine, 2018
Anterior sacral meningoceles (ASMs) are rare lesions often associated with connective tissue diso... more Anterior sacral meningoceles (ASMs) are rare lesions often associated with connective tissue disorders. These lesions are typically treated posteriorly via closure of the dural stalk. However, given their insidious nature, ASMs can be quite large on presentation, and this approach may not provide adequate decompression. In this case report, the authors describe the successful treatment of a large ASM through drainage and watertight closure of the cyst with an omental flap.A 43-year-old woman with a history of Marfan syndrome and a large ASM was referred for neurosurgical intervention. The ASM was filling the pelvic cavity and causing severe compression of the bladder. The patient underwent surgical decompression of the cyst through an anterior transabdominal approach and closure of the fistulous tract with a pedicled omental flap. This is the first reported case of successful closure of an ASM with an omental flap. At the 6-month follow-up, the ASM had not recurred on imaging and th...
Journal of clinical hypertension (Greenwich, Conn.), 2018
Real-world tolerability and effectiveness of nebivolol as first add-on therapy were compared with... more Real-world tolerability and effectiveness of nebivolol as first add-on therapy were compared with hydrochlorothiazide, metoprolol, and amlodipine. Medical records of hypertensive adults initiating nebivolol, hydrochlorothiazide, metoprolol, or amlodipine as first add-on therapy between December 16, 2010 and July 21, 2011 were retrospectively abstracted (N = 1600; 400/treatment). Outcomes included medication-related side-effect rates and blood pressure (BP) reduction and control. Compared with nebivolol, metoprolol and amlodipine had significantly higher side-effect rates (incidence rate ratio [95% CI]: 1.82 [1.14-2.92] and 2.67 [1.69-4.21]), respectively); the hydrochlorothiazide-nebivolol rate ratio was not significant (1.61 [0.95-2.71]). All treatments reduced BP at 2 months. Metoprolol, amlodipine, and hydrochlorothiazide were associated with significantly lower odds of achieving 2-month BP control than nebivolol (odds ratios [95% CI]: 0.34 [0.23-0.51], 0.51 [0.35-0.75] and 0.66 ...
Journal of the American College of Cardiology, 2017
Background: Physiologic changes due to hyperthyroidism can unmask symptomatic anomalous coronary ... more Background: Physiologic changes due to hyperthyroidism can unmask symptomatic anomalous coronary arteries. Case: A 38-year-old female, nine months post-partum, presented with squeezing chest pain for the past two months. This was exacerbated by exertion and lying supine. She had resting tachycardia and a four pound weight loss since pregnancy. Her electrocardiogram showed dynamic ST depressions in the inferolateral leads and a peak troponin of 0.42. A cardiac catheterization revealed no stenosis, but difficulty with selective cannulation of the right coronary artery (RCA) was suspicious for an anomalous origin. A cardiac CT revealed a dominant RCA with an acute angle takeoff from the left coronary sinus and severe narrowing between the aorta and pulmonary artery. Other tests resulted in an undetectable TSH and free T4 of 3.7. Decision-Making: An anomalous origin of the RCA is often asymptomatic. However, postpartum hyperthyroidism provided a physiologic stress test that increased cardiac output by 50 to 300% and decreased diastolic coronary perfusion pressure. The increase in pulsatility of the ascending aorta and pulmonary arterial pressures worsened compression of the inter-arterial segment of the anomalous RCA. She was managed with methimazole, IV hydrocortisone to prevent thyroid storm, and surgical revascularization. Conclusions: Hyperthyroidism increases cardiac output and pulmonary arterial pressures, leading to ischemia of an anomalous coronary artery with an inter-arterial course.
Community mental health journal, Aug 24, 2017
Interventions are needed to address frailty and other behaviors (e.g., drug and alcohol use) amon... more Interventions are needed to address frailty and other behaviors (e.g., drug and alcohol use) among prefrail and frail homeless women (P/FHW). The purpose of this pilot randomized controlled trial (RCT) was to compare the efficacy of a Frailty Intervention (FI) versus a Health Promotion (HP) program among P/FHW (N = 32). Structured instruments assessed sociodemographics, individual, situational, health-related, and behavioral factors. While program differences were not statistically significant with the main outcome variables, medium-to-large effect sizes were found in favor of the HP program as it relates to physical and overall frailty, as well as, any drug use, alcohol use, and drug dependency. Based on these findings, it is critical to strengthen the HP program to optimize all domains of frailty (e.g., physical, psychological, and social) and substance use for P/FHW.
The patient, Aug 17, 2017
Methods for discrete choice experiment (DCE) attribute and attribute-level selection have not yet... more Methods for discrete choice experiment (DCE) attribute and attribute-level selection have not yet been firmly established and are rarely reported in detail. This paper describes a qualitative study designed to inform the development of a DCE survey designed to examine preferences for glucagon-like peptide-1 receptor agonist (GLP-1RA) treatments among patients with type 2 diabetes mellitus. The study involved a literature review, interviews with clinical experts, and interviews with GLP-1RA-experienced (i.e., exenatide once weekly, liraglutide once daily) and injection-naïve type 2 diabetes patients from Brazil, China, Germany, Japan, and the UK. Interviews followed a semi-structured guide including open-ended questions, and probes to capture the patients' perspective on important aspects of GLP-1RAs and concerns with injectable treatments. Qualitative analyses were performed utilizing MAXQDA version 11. Descriptive statistics were used to summarize the sample. Thirty-two article...
Breast cancer research : BCR, Nov 11, 2016
Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheter... more Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1…
Journal of Neurosurgery: Spine, 2016
Pudendal nerve schwannomas are very rare, with only two cases reported in the English-language li... more Pudendal nerve schwannomas are very rare, with only two cases reported in the English-language literature. The surgical approaches described in these two case reports are the transgluteal approach and the laparoscopic approach. The authors present the case of a patient with progressive pelvic pain radiating ipsilaterally into her groin, vagina, and rectum, who was subsequently found to have a pudendal schwannoma. The authors used a transischiorectal fossa approach and intraoperative electrophysiological monitoring and successfully excised the tumor. This approach has the advantage of direct access to Alcock's canal with minimal disruption of the pelvic muscles and ligaments. The patient experienced complete relief of her pelvic pain after the procedure.
PLOS ONE, 2016
A major weakness in many high-throughput genomic studies is the lack of consideration of a clinic... more A major weakness in many high-throughput genomic studies is the lack of consideration of a clinical environment where one patient at a time must be evaluated. We examined generalizable and platform-specific sources of variation from NanoString gene expression data on both ovarian cancer and Hodgkin lymphoma patients. A reference-based strategy, applicable to single-patient molecular testing is proposed for batch effect correction. The proposed protocol improved performance in an established Hodgkin lymphoma classifier, reducing batch-to-batch misclassification while retaining accuracy and precision. We suggest this strategy may facilitate development of NanoString and similar molecular assays by accelerating prospective validation and clinical uptake of relevant diagnostics.
Assistant Monitoring Program Manager Tripp McCandlish manages the data collection and processing ... more Assistant Monitoring Program Manager Tripp McCandlish manages the data collection and processing of all photos for the project's permanent plot photo monitoring. OEI Biologist Toby Rohmer customized the dot density symbologies in ArcGIS that allowed for the production of site maps showing the actual net area footprint of invasive Spartina, and was responsible for the production of all site maps in this report.
Molecular pharmacology, Jan 5, 2015
Activation of the inositol-requiring enzyme-1 alpha (IRE1α) protein caused by endoplasmic reticul... more Activation of the inositol-requiring enzyme-1 alpha (IRE1α) protein caused by endoplasmic reticulum (ER) stress results in the homodimerization of the N-terminal ER luminal domains, autophosphorylation of the cytoplasmic kinase domains, and conformational changes to the cytoplasmic endoribonuclease (RNase) domains which render them functional and can lead to the splicing of XBP1 mRNA. Herein we report the first crystal structures of the cytoplasmic portion of a human phosphorylated IRE1α dimer in complex with GSK2850163, a novel, IRE1α-selective kinase inhibitor, and with staurosporine (STS), a broad spectrum kinase inhibitor. GSK2850163 inhibits both the kinase and RNAse activities of IRE1α. The inhibitor interacts with the catalytic residues Lys599 and Glu612 and displaces the kinase activation loop to the DFG-out conformation. Inactivation of IRE1α RNAse activity appears to be caused by a conformational change whereby the αC helix is displaced resulting in the rearrangement of th...