scholarly journals 4225 Evaluation of Neurotransmitters in Channelopathy-Related Epilepsy

2020 ◽  
Vol 4 (s1) ◽  
pp. 95-95
Author(s):  
Sunita N Misra ◽  
Theresa M. Czech ◽  
Jennifer A. Kearney
Keyword(s):  
Mouse Model ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Brain Regions ◽  
Autism Spectrum ◽  
Wild Type ◽  
Voltage Gated Sodium Channels ◽  
Study Population ◽  
Genotype A

OBJECTIVES/GOALS: Variants in voltage-gated sodium channels (VGSC) are a common cause of severe early onset epilepsy. Changes in CSF neurotransmitters (NT) were identified in 2 cases of VGSC-related epilepsy. Here we investigate NT changes in patients and a novel mouse model of VGSC-related epilepsy. METHODS/STUDY POPULATION: We conducted a single site IRB approved retrospective chart review of patients with VGSC-related epilepsy who underwent CSF NT testing for diagnostic purposes. In parallel, we examined NT levels from the brains of wild-type (WT) and a novel VGSC-related epilepsy mouse model after obtaining IACUC approval. We rapidly isolated forebrain, cortex, striatum, and brainstem from 5-6 animals per sex and genotype. A combination of HPLC with electrochemical detection and mass spectrometry were used to quantify NT levels from brain samples. RESULTS/ANTICIPATED RESULTS: We identified 10 patients with VGSC-related epilepsy who received CSF NT testing. Two of these patients had abnormal NT results including changes to dopamine (DA) or serotonin (5-HT) metabolites. We analyzed NT levels from four brain regions from male and female WT and VGSC-related epilepsy mice. We anticipate that most of the NT levels will be similar to WT, however subtle changes in the DA or 5-HT metabolites may be seen in VGSC-related epilepsy. DISCUSSION/SIGNIFICANCE OF IMPACT: Patients with VGSC-related epilepsy often have autism spectrum disorder, sleep, and movement disorders. Understanding the role of aberrant NT levels in VGSC-related epilepsy may provide additional therapeutic targets that address common neuropsychological comorbidities as well as seizures.

scholarly journals Changes in the Fluorescence Tracking of NaV1.6 Protein Expression in a BTBR T+Itpr3tf/J Autistic Mouse Model

2019 ◽  
Vol 2019 ◽  
pp. 1-12 ◽  
Author(s):  
Musaad A. Alshammari ◽  
Mohammad R. Khan ◽  
Fawaz Alasmari ◽  
Abdulaziz O. Alshehri ◽  
Rizwan Ali ◽  
...  
Keyword(s):  
Mouse Model ◽  
Western Blot ◽  
Neuronal Excitability ◽  
Autism Spectrum ◽  
Wild Type ◽  
Western Blot Assay ◽  
Critical Determinant ◽  
Molecular Features ◽  
Voltage Gated Sodium Channels ◽  
Wild Type Control

The axon initial segment (AIS), the site of action potential initiation in neurons, is a critical determinant of neuronal excitability. Growing evidence indicates that appropriate recruitment of the AIS macrocomplex is essential for synchronized firing. However, disruption of the AIS structure is linked to the etiology of multiple disorders, including autism spectrum disorder (ASD), a condition characterized by deficits in social communication, stereotyped behaviors, and very limited interests. To date, a complete understanding of the molecular components that underlie the AIS in ASD has remained elusive. In this research, we examined the AIS structure in a BTBR T+Itpr3tf/J mouse model (BTBR), a valid model that exhibits behavioral, electrical, and molecular features of autism, and compared this to the C57BL/6J wild-type control mouse. Using Western blot studies and high-resolution confocal microscopy in the prefrontal frontal cortex (PFC), our data indicate disrupted expression of different isoforms of the voltage-gated sodium channels (NaV) at the AIS, whereas other components of AIS such as ankyrin-G and fibroblast growth factor 14 (FGF14) and contactin-associated protein 1 (Caspr) in BTBR were comparable to those in wild-type control mice. A Western blot assay showed that BTBR mice exhibited a marked increase in different sodium channel isoforms in the PFC compared to wild-type mice. Our results provide potential evidence for previously undescribed mechanisms that may play a role in the pathogenesis of autistic-like phenotypes in BTBR mice.

Risk and Protective Factors Affecting Children in Foster Care: A Pilot Study of the Role of Siblings*

1992 ◽  
Vol 37 (9) ◽  
pp. 616-622 ◽  
Author(s):  
M.B. Thorpe ◽  
G.T. Swart
Keyword(s):  
Foster Care ◽  
Protective Factors ◽  
School Performance ◽  
Extracurricular Activities ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Factors Affecting ◽  
Children In Foster Care ◽  
High Risk Children

A retrospective chart review of 115 siblings (from 48 families) simultaneously taken into the care of a Children's Aid Society was conducted. These children were a very neglected group at great risk of developing mental illness. There was a significant correlation between the number of symptoms the child had while in the receiving home and the time spent in foster care. Protective factors correlated with fewer symptoms at home but not while the child was in care. Being in care resulted in better performance at school, fewer symptoms and involvement in more extracurricular activities. High risk children made up their losses. While in foster care, 53% were eventually separated from their siblings. Children were more likely to be separated from their siblings if they were older, their father was physically ill or their parents were separated. Children who were separated from their siblings had more risk factors and placements while in care. However, they had fewer symptoms and better school performance while they were in foster care and fewer symptoms at discharge than the siblings who stayed together.

Abstract 3235: Low LDL is Associated with Hematoma Expansion in Chronic Daily Alcohol Users with Intracranial Hemorrhage

Stroke ◽  
2012 ◽  
Vol 43 (suppl_1) ◽  
Author(s):  
Gayle R Pletsch ◽  
Christopher Burns ◽  
Karen C Albright ◽  
Amelia K Boehme ◽  
T. M Beasley ◽  
...  
Keyword(s):  
Chart Review ◽  
Ldl Cholesterol ◽  
Independent Predictor ◽  
Retrospective Chart Review ◽  
Platelet Inhibition ◽  
Demographic Variables ◽  
Hematoma Expansion ◽  
Chi Square ◽  
Alcohol Users

Background: Prior studies have reported elevated blood pressure, platelet inhibition, and low LDL cholesterol in chronic daily alcohol users (CDA). Each of these has been shown to be associated with intracerebral hemorrhage (ICH) growth. We hypothesized that CDA patients with ICH and low LDL were at higher risk for ICH growth than CDA users with high LDL. Methods: Retrospective chart review was performed on patients who presented to Tulane University from 7/1/08-12/31/10 with a spontaneous ICH. Patients who underwent hematoma evacuation were excluded. Clinical and demographic variables were abstracted. Hemorrhages volumes were calculated based on ABC/2 method. LDL was dichotomized into low (<100mg/dl) and high (≥100mg/dl) values. Comparisons were made using t-tests, Chi-square and non-parametric equivalents where appropriate. ICH growth in 24 hours and CDA use were evaluated using linear regression. Results: Of the 99 patients with spontaneous ICH, 25.3% were CDA users. No significant differences were observed when comparing baseline demographics of CDA users with LDL<100 and CDA users with LDL>=100 ( Table 1). Patients with low LDL had larger baseline ICH volumes (21.4 vs. 7.5, p=.03) and were more likely to experience ICH growth (87.5% vs. 57.1%, p=0.0002). Initial LDL was an independent predictor for 24 hour ICH growth. Every 10 points the initial LDL was below 100 predicted 1 cc of growth. LDL did not predict ICH growth in non-CDA users (p=0.9430). Discussion: Our data suggest that initial LDL level in chronic daily alcohol users can be used to predict ICH growth. The role of LDL in the importance of vessel fragility and clot stabilization needs to be further explored as this appears be important in patients who are chronic daily alcohol users.

Combined Phacoemulsification and Pars Plana Vitrectomy for the Treatment of Cataract in Patients With Noninfectious Uveitis

2020 ◽  
Vol 4 (5) ◽  
pp. 393-400
Author(s):  
Christopher D. Conrady ◽  
Akbar Shakoor ◽  
Rachel Patel ◽  
Marissa Larochelle ◽  
Majid Moshirfar ◽  
...  
Keyword(s):  
Surgical Approach ◽  
Inflammatory Disease ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Visual Rehabilitation ◽  
Disease Remission ◽  
Pars Plana ◽  
Vitrectomy Surgery

Purpose: This work evaluates the role of combined phacoemulsification and vitrectomy surgery in the management of cataract associated with noninfectious uveitis. Methods: A retrospective chart review was conducted of all patients aged 7 years or older who underwent a combined surgical approach from 2005 to 2018. Results: Eighty-five eyes of 67 patients were included in the study; 10.7% of eyes had a best-corrected visual acuity (BCVA) of 20/40 or better at time of surgery. At 1-year follow-up, 63.4% of eyes had a BCVA 20/40 or better and 7.6% had a BCVA of 20/200 or worse. There was an overall decrease in cystoid macular edema after surgery compared with preoperatively (47.6% vs 34.5% presurgery and postsurgery, respectively). Complete inflammatory disease remission off immunomodulatory therapy and systemic steroids was achieved in 21.1% of patients. Conclusions: A combined surgical approach is effective in visual rehabilitation in patients with uveitic cataracts and may promote inflammatory disease remission specifically in intermediate uveitis.

Post-operative problems and complications in 313 consecutive cochlear implantations

2008 ◽  
Vol 123 (5) ◽  
pp. 492-496 ◽  
Author(s):  
T Ovesen ◽  
L V Johansen
Keyword(s):  
Cochlear Implantation ◽  
Surgical Planning ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Safe Procedure ◽  
Tertiary Referral Centre ◽  
Antibiotic Resistant ◽  
Danish Patient ◽  
Study Population ◽  
Radical Cavity

AbstractObjective:To describe problems and complications associated with cochlear implantation, and their management, in a Danish patient population comprising both paediatric and adult patients.Design:Retrospective chart review.Setting:Tertiary referral centre.Subjects:Three hundred and thirteen consecutive cochlear implantations were studied. The median age of the study population was 10 years. Sixty per cent of patients were children and 40 per cent were adult; 52 per cent were female and 48 per cent were male.Intervention:Two hundred and ninety-four patients received a Cochlear Nucleus®implant. The remaining 19 received an Advanced Bionics implant.Main outcome measure:Presence of problems and complications after cochlear implantation.Results:Post-operative complications were found in 15.7 per cent of patients. The majority of these complications (11.2 per cent) were minor; 4.5 per cent were major. The major complications included one patient with meningitis, one patient with multiple antibiotic resistantStaphylococcus aureusinfection of a radical cavity, and one diabetic patient who developed a severe skin infection and whose implant became exposed.Conclusion:Cochlear implantation is a safe procedure within the studied setting. However, it is essential that careful attention be paid to surgical planning and technique, and it is important that healthcare staff and patients be aware of the possible problems and complications.

scholarly journals Assessment of Chlamydia trachomatis, Neisseria gonorrhoeae, and Mycobacterium tuberculosis infections in women undergoing laparoscopy: the role of peritoneal fluid sampling

2016 ◽  
Vol 31 (4) ◽  
Author(s):  
Miroslav Dragic ◽  
Patrizia Posteraro ◽  
Carla Marani ◽  
Maria Emanuela Natale ◽  
Alessia Vecchioni ◽  
...  
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Chlamydia Trachomatis ◽  
Peritoneal Fluid ◽  
Bacterial Infections ◽  
Chart Review ◽  
Molecular Detection ◽  
Retrospective Chart Review ◽  
Potential Link ◽  
Fluid Sampling

<em>Background</em>. Aim of this study was to assess the role of peritoneal fluid sampling for detection of bacterial infections due to <em>Chlamydia trachomatis </em>(CT), <em>Neisseria</em> <em>gonorrhoeae</em> (NG), and <em>Mycobacterium</em> <em>tuberculosis</em> (MT) in women undergoing laparoscopic investigation. The potential link between microbiological positive result(s) and types of gynecological pathology was also evaluated. <em><br />Materials</em> <em>and</em> <em>Methods</em>. A large sample of women (n=1377) with their peritoneal fluids taken laparoscopically was studied. Data of microbiological and clinical/histopathological findings were entered into a database from a retrospective chart review. Culture and/or microscopy were used to detect NG or MT infection, whereas CT infection was detected using a PCR-based test. <em><br />Results and Conclusions</em>. Of all the patients (14 to 50 years aged), 463 (33.6%) had endometriosis, 1179 (85.6%) had a pathology/condition other than endometriosis, and 71 (5.2%) had no pathology as histologically documented. None of the patients had peritoneal fluid samples positive for NG or MT. In contrast, 30 (2.2%) of 1377 patients had peritoneal fluid samples positive for CT. Except for 3 women with no histopathological alteration, all the CT positive patients had either endometriosis (n=12) or non-endometriosis (n=13) pathology. Two remaining patients were diagnosed with both the pathologies. Accordingly, no significant association (OR) was found between CT positivity and pathology [only endometriosis, 1.13 (95%CI, 0.30-4.20)]; [only non-endometriosis, 0.53 (95%CI, 0.15-1.87)]. While confirming the low positivity rate for the CT molecular detection, the present data indicate the need for prospective studies to firmly establish the clinical usefulness of peritoneal fluid diagnostic in gynecological settings.

Posttraumatic Resuscitation Affects Stent Graft Sizing in Patients with Blunt Thoracic Aortic Injury

2016 ◽  
Vol 82 (1) ◽  
pp. 75-78 ◽  
Author(s):  
Jordan R. H. Hoffman ◽  
Ritam Chowdhury ◽  
Laura S. Johnson ◽  
Luke P. Brewster ◽  
Yazan Duwayri ◽  
...  
Keyword(s):  
Stent Graft ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Aortic Injury ◽  
Aortic Diameter ◽  
Related Complication ◽  
Blunt Thoracic Aortic Injury ◽  
Thoracic Aortic Injury ◽  
Study Population ◽  
Level I

Patients with blunt aortic injury often present to the emergency department in a relatively hypovolemic state. These patients undergo extensive inhospital resuscitation. The effect of posttraumatic resuscitation on aortic diameter has implications for stent graft sizing. The potential utility of repeat aortic imaging after resuscitation remains unclear. A retrospective chart review of all adult patients presenting to a Level I trauma center between the years 2007 and 2013 was performed. Fifty-three patients were identified with a diagnosis of traumatic aortic injury. Of those, 10 had 2 CT scans before aortic repair and were selected as the study population for analysis. After resuscitation, there was a significant increase in aortic diameter both proximal and distal to the aortic injury: proximal aortic diameter increase of 1.97 mm and distal aortic diameter increase of 1.48 mm. This retrospective study shows that after resuscitation, there is a significant increase in proximal and distal aortic diameter. Interval reimaging of the thoracic aorta may be beneficial after adequate stabilization of the patient's other injuries. In certain cases, more appropriate sizing may prevent a device-related complication.

A Comparison of Sexual Arousal in Men Exposed to Visual Stimuli With and Without Facial Blurring

Sexual Abuse ◽  
2019 ◽  
Vol 32 (6) ◽  
pp. 619-633 ◽  
Author(s):  
Leah Rosetti ◽  
Susan Curry ◽  
Lisa Murphy ◽  
John B. Bradford ◽  
J. Paul Fedoroff
Keyword(s):  
Chart Review ◽  
Retrospective Chart Review ◽  
Effect Sizes ◽  
Modest Effect Size ◽  
Legal Challenges ◽  
And Gender ◽  
Gender Categories ◽  
Facial Images ◽  
Modest Effect

The role of the facial images in arousal and attraction has been examined before but never via penile plethysmography (PPG). This retrospective chart review aimed to determine the significance and magnitude of differences in arousal measured by PPG in 1,000 men exposed to slide stimuli with or without facial blurring in subjects of various ages. Arousal in response to blurred stimuli was significantly higher than nonanonymized stimuli with modest effect sizes for slides across age and gender categories. Facial blurring increased differences in arousal between adults and adolescents with a modest effect size. Our findings support the use of facial blurring to further protect the anonymity of models and limit the ethical and legal challenges of using slide stimuli with child models.

scholarly journals 4401 Incidence, management, and outcomes of immune-related adverse events (irAEs): an analysis of a multidisciplinary toxicity team for cancer immunotherapy related irAEs

2020 ◽  
Vol 4 (s1) ◽  
pp. 73-73
Author(s):  
Aanika Balaji ◽  
Jiajia Zhang ◽  
Jarushka Naidoo
Keyword(s):  
Chart Review ◽  
Relative Risk Reduction ◽  
Retrospective Chart Review ◽  
Risk Groups ◽  
Hospitalization Rate ◽  
Johns Hopkins Hospital ◽  
Inpatient Hospitalizations ◽  
Study Population ◽  
Patient Referrals ◽  
Historical Controls

OBJECTIVES/GOALS: This study aims to assess the outcomes of a new virtual multidisciplinary immune-related toxicity (IR-tox) team implemented at Johns Hopkins Hospital. In particular, to understand if the IR-tox team’s input reduced the number of inpatient hospitalizations for irAEs for referred patients. METHODS/STUDY POPULATION: Since August 2017, nearly 250 patient referrals to the IR-tox team have been created and stored in an electronic database. Through retrospective chart review, hospitalization and irAE management data will be collected for these patients to assess whether rates for suspected irAEs have decreased. These rates will be compared against historical controls. We will assess the features of hospitalized patients, their immunotherapy regimens, and management to identify high-risk groups who may require early intervention. Additionally, we aim to understand what patient features are associated with IR-Tox team referral and subsequent hospitalization. RESULTS/ANTICIPATED RESULTS: The IR-tox team provided a new multidisciplinary channel to help physicians diagnose and manage complex irAEs. The goal of the team was the reduce the number of irAE-related hospitalizations as, historically, 85% of high-grade irAEs have required hospitalization. A clinically meaningful reduction is defined as lowering the hospitalization rate to 75%. Planned analyses includes calculating the hospitalization rate, using descriptive statistics to summarize patient features, multivariate analyses to understand features associated with both IR-Tox team referral and hospitalization, and computing the relative risk reduction to assess the efficacy of subspecialist referral implementation. DISCUSSION/SIGNIFICANCE OF IMPACT: IrAEs are challenging to diagnose and treat. They contribute to a notable proportion of hospitalizations in those treated with immunotherapy. With expanding use of immunotherapy, widespread implementations of IR-Tox teams may help reduce hospitalizations and costs associated with care for irAEs.

scholarly journals Depletion of Cholesteryl Esters Causes Meibomian Gland Dysfunction-Like Symptoms in a Soat1-Null Mouse Model

2021 ◽  
Vol 22 (4) ◽  
pp. 1583
Author(s):  
Igor A. Butovich ◽  
Amber Wilkerson ◽  
Seher Yuksel
Keyword(s):  
Mouse Model ◽  
High Resolution Mass Spectrometry ◽  
Meibomian Gland ◽  
Lipid Homeostasis ◽  
Null Mouse ◽  
Complete Suppression ◽  
Cholesteryl Esters ◽  
Wild Type ◽  
Massive Accumulation

Previous studies on ablation of several key genes of meibogenesis related to fatty acid elongation, omega oxidation, and esterification into wax esters have demonstrated that inactivation of any of them led to predicted changes in the meibum lipid profiles and caused severe abnormalities in the ocular surface and Meibomian gland (MG) physiology and morphology. In this study, we evaluated the effects of Soat1 ablation that were expected to cause depletion of the second largest class of Meibomian lipids (ML)—cholesteryl esters (CE)—in a mouse model. ML of the Soat1-null mice were examined using liquid chromatography high-resolution mass spectrometry and compared with those of Soat1+/− and wild-type mice. Complete suppression of CE biosynthesis and simultaneous accumulation of free cholesterol (Chl) were observed in Soat1-null mice, while Soat1+/− mutants had normal Chl and CE profiles. The total arrest of the CE biosynthesis in response to Soat1 ablation transformed Chl into the dominant lipid in meibum accounting for at least 30% of all ML. The Soat1-null mice had clear manifestations of dry eye and MG dysfunction. Enrichment of meibum with Chl and depletion of CE caused plugging of MG orifices, increased meibum rigidity and melting temperature, and led to a massive accumulation of lipid deposits around the eyes of Soat1-null mice. These findings illustrate the role of Soat1/SOAT1 in the lipid homeostasis and pathophysiology of MG.

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