Medical Specialties Commons^™

Quality Control Material For The Detection Of Somatic Mutations In Fixed Clinical Specimens By Next-Generation Sequencing, Catherine I. Dumur, Jorge A. Almenara, Celeste N. Powers, Andrea Ferreira-Gonzalez

Pathology Publications

Background: Targeted next generation sequencing (NGS) technology to assess the mutational status of multiple genes on formalin-fixed, paraffin embedded (FFPE) tumors is rapidly being adopted in clinical settings, where quality control (QC) practices are required. Establishing reliable FFPE QC materials for NGS can be challenging and/or expensive. Here, we established a reliable and cost-effective FFPE QC material for routine utilization in the Ion AmpliSeq™ Cancer Hotspot Panel v2 (CHP2) assay.

Methods: The performance characteristics of the CHP2 assay were determined by sequencing various cell line mixtures and 55 different FFPE tumors on the Ion Torrent PGM platform. A FFPE QC …

Nosocomial Keratitis Caused By Methicillin-Resistant Staphylococcus Aureus: Case Report And Preventative Measures, Puneet S. Braich, Shruti Aggarwal, Sabrina Mukhtar, David Rp Almeida

Ophthalmology Publications

A 47-year-old African-American woman was admitted to the intensive care unit of our community hospital for respiratory failure secondary to severe decompensated heart failure, requiring intubation. In the ensuing days, she developed a methicillin-resistant Staphylococcus aureus (MRSA) infection of the cornea, despite no growth of MRSA in multiple blood, sputum, and urine cultures. This unexpected corneal infection complicated her hospital stay, and increased morbidity and disease-related cost. Risk factors, warning signs, and preventative measures for MRSA keratitis secondary to lagophthalmos (inability to completely close one's eyelids) are outlined in this case report. Implementing simple precautions such as taping eyelids shut …

Relocation Consequences On An Ophthalmology Consultation Service From An Inpatient To Outpatient Facility, Jorawer S. Singh, Vincent M. Imbrogno, Mary K. Howard, Amandip S. Cheema, Ausra D. Selvadurai, Surbhi Bansal

Ophthalmology Publications

Importance

This study shows that relocation of an academic ophthalmology residency program from an inpatient to an outpatient setting in western New York does not affect the consult volume but affects management patterns and follow-up rates.

Objective

To investigate the effects on the ophthalmology consultation service of an academic program with relocation from a Regional Level-1 Trauma center to an outpatient facility.

Design

Consultation notes from 3 years before and 3 years after the University at Buffalo’s (UB) Department of Ophthalmology relocation from a Regional Level-1 Trauma center (Erie County Medical Center) to an outpatient facility (Ross Eye Institute) were …

Prevalence And Factors Predictive Of Intraocular Fungal Infection In Patients With Fungemia At An Academic Urban Tertiary Care Center, Elena Geraymovych, Joseph H. Conduff, Puneet S. Braich, Christopher T. Leffler, Vikram S. Brar

Ophthalmology Publications

Objective

To report the prevalence and to identify factors predictive of intraocular infection in patients with fungemia receiving prophylactic antifungal therapy.

Methods

A retrospective review of patients who received prophylactic antifungal therapy and a dilated fundus examination at an academic urban tertiary care center from 2000 to 2007. Basic demographic information, fungal species grown, antifungal agent(s) used, number of positive blood culture specimens, visual acuity, visual symptoms, and known risks of disseminated candidiasis were noted. Logistic regression analysis was used to determine the factors significantly associated with intraocular fungal infection.

Results

A total of 132 patients with positive fungemia culture …

Infrared Imaging Enhances Retinal Crystals In Bietti’S Crystalline Dystrophy, Vikram S. Brar, William H. Benson

Ophthalmology Publications

Infrared imaging dramatically increased the number of crystalline deposits visualized compared with clinical examination, standard color fundus photography, and red free imaging in patients with Bietti’s crystalline dystrophy. We believe that this imaging modality significantly improves the sensitivity with which these lesions are detected, facilitating earlier diagnosis and may potentially serve as a prognostic indicator when examined over time.

Disappearing Before My Eyes, Edward F. Ansello

Director's Editorials from Age in Action

Dr. Edward Ansello details the last memories he made and recalled with his mother, who struggled with memory loss in later life.

Preventing Financial Exploitation, Edward F. Ansello

Director's Editorials from Age in Action

Financial exploitation of older adults isn’t going away. We each need to be aware and proactive.

Remembering Our Friends, Edward F. Ansello

Director's Editorials from Age in Action

We remember three men whose caring for others was, indeed, exceptional: Bill Egelhoff, Benny Lambert, and Frank Hall.

Available Telephone Services For Older Virginians Who Are Deaf Or Hard Of Hearing, Clayton E. Bowen

Case Studies from Age in Action

Educational Objectives:

1. To identify signs of hearing loss in older adults.

2. To introduce the Virginia Department for the Deaf and Hard of Hearing (VDDHH) and some of its programs and services.

3. To examine three VDDHH services and qualification guidelines.

4. To review how service recipients benefit from these programs.

Sleep Disorders And Cardiac Consequences, Robert D. Vorona

Case Studies from Age in Action

Educational Objectives:

1. Review the clear relationship between obstructive sleep apnea and hypertension.

2. Discuss the cardiac consequences of sleep apnea, including coronary heart disease, heart failure, and different dysrhythmias.

3. Understand that sleep disorders beyond obstructive sleep apnea, such as insufficient sleep itself, may have an impact on the cardiovascular system.

4. Appreciate the potential benefits of identifying and treating sleep disorders for our health.

Bringing Comfort To People With Advanced Dementia, Ann Wyatt

Case Studies from Age in Action

Educational Objectives

1. Explain the purpose of looking at palliative care through a dementia lens.

2. Define dementia-capable palliative care.

3. Identify and provide examples of specific care practices that can bring comfort to people with advanced dementia.

4. Describe the process that staff use in identifying what brings comfort to individual residents.

Building Interprofessional Teams Through Evidence Based Practice Training In Falls Prevention, Constance L. Coogle, Edward F. Ansello, Patricia Slattum, Pamela L. Parsons

Case Studies from Age in Action

Objectives

1. Analyze an Evidence Based Practice (EBP) program on falls prevention as a vehicle for successful interprofessional team-building.

2. Examine ways that organizational characteristics can affect team functioning.

3. Compare interprofessional teambuilding in two sites.

4. Discuss elements of interprofessional teams that contributed to practice changes.

Mri Evaluation Of Lumbar Disc Degenerative Disease, Pokhraj Suthar, Rupal Patel, Chetan Mehta, Narrotam Patel

Orthopaedic Surgery Publications

Introduction:

Lower back pain secondary to degenerative disc disease is a condition that affects young to middle-aged persons with peak incidence at approximately 40 y. MRI is the standard imaging modality for detecting disc pathology due to its advantage of lack of radiation, multiplanar imaging capability, excellent spinal soft-tissue contrast and precise localization of intervertebral discs changes.

Aims and Objective:

To evaluate the characterization, extent, and changes associated with the degenerative lumbar disc disease by Magnetic Resonance Imaging.

Study Design:

Cross-sectional and observational study.

Materials and Methods:

A total 109 patients of the lumbar disc degeneration with age group between …

Prehospital Use Of Plasma In Traumatic Hemorrhage (The Pupth Trial): Study Protocol For A Randomised Controlled Trial, Penny S. Reynolds, Mary Jane Michael, Emily D. Cochran, Jacob A. Wegelin, Bruce D. Spiess

Anesthesiology Publications

Background

Severe traumatic injury and haemorrhagic shock are frequently associated with disruptions of coagulation function (such as trauma-induced coagulopathy TIC) and activation of inflammatory cascades. These pathologies may be exacerbated by current standard of care resuscitation protocols. Observational studies suggest early administration of plasma to severely-injured haemorrhaging patients may correct TIC, minimise inflammation, and improve survival. The proposed randomised clinical trial will evaluate the clinical effectiveness of pre-hospital plasma administration compared with standard- of-care crystalloid resuscitation in severely-injured patients with major traumatic haemorrhage.

Methods/design

This is a prospective, randomized, open-label, non-blinded trial to determine the effect of pre-hospital administration of …

Prevalence And Factors Predictive Of Intraocular Fungal Infection In Patients With Fungemia At An Academic Urban Tertiary Care Center, Elena Geraymovych, Joseph H. Conduff, Puneet S. Braich, Christopher T. Leffler, Vikram S. Brar

Ophthalmology Publications

Objective: To report the prevalence and to identify factors predictive of intraocular infection in patients with fungemia receiving prophylactic antifungal therapy.
Methods: A retrospective review of patients who received prophylactic antifungal therapy and a dilated fundus examination at an academic urban tertiary care center from 2000 to 2007. Basic demographic information, fungal species grown, antifungal agent(s) used, number of positive blood culture specimens, visual acuity, visual symptoms, and known risks of disseminated candidiasis were noted. Logistic regression analysis was used to determine the factors significantly associated with intraocular fungal infection.
Results: A total of 132 patients with positive fungemia culture …

A Fatal Twist: Volvulus Of The Small Intestine In A 46-Year-Old Woman, Jared Klein, Kathryn Baxstrom, Stephen Donnelly, Patrick Feasel, Paul Koles

Pediatrics Publications

A 46-year-old woman presented to two emergency departments within 12 hours because of acute abdominal pain. Physical exam demonstrated tenderness and epigastric guarding. An ultrasound was interpreted as negative; she was discharged home. Later that evening, she was found dead. Postmortem exam revealed acute hemorrhagic necrosis of a segment of jejunum secondary to volvulus. Clinical clues suggesting presentations of small bowel volvulus are usually nonspecific; the diagnosis is typically confirmed at surgery. Her unremitting abdominal pain, persistent vomiting, and absolute neutrophilia were consistent with an acute process. The etiology of this volvulus was caused by an elastic fibrous band at …

Γ-Secretase Inhibitor Alleviates Acute Airway Inflammation Of Allergic Asthma In Mice By Downregulating Th17 Cell Differentiation, Weixi Zhang, Xueya Zhang, Anqun Sheng, Cuiye Weng, Tingting Zhu, Wei Zhao, Changchong Li

Pediatrics Publications

T helper 17 (Th17) cells play an important role in the pathogenesis of allergic asthma. Th17 cell differentiation requires Notch signaling. γ-Secretase inhibitor (GSI) blocks Notch signaling; thus, it may be considered as a potential treatment for allergic asthma. The aim of this study was to evaluate the effect of GSI on Th17 cell differentiation in a mouse model of allergic asthma. OVA was used to induce mouse asthma model in the presence and absence of GSI. GSI ameliorated the development of OVA-induced asthma, including suppressing airway inflammation responses and reducing the severity of clinical signs. GSI also significantly …

Liver X Receptor-Dependent Inhibition Of Microglial Nitric Oxide Synthase 2, Julie R Secor Mcvoy, Hanadi Ajam Oughli, Unsong Oh

Neurology Publications

Background

The nuclear receptor liver X receptor (LXR) exerts transcriptional control over lipid metabolism and inflammatory response in cells of the myeloid lineage, suggesting that LXR may be a potential target in a number of chronic neuroinflammatory and neurodegenerative diseases where persistent microglial activation has been implicated in the pathogenesis.

Methods

The effect of LXR activation on microglia and central nervous system (CNS) inflammation was studied using a synthetic LXR agonist in cultured microglia, a microglial cell line and experimental allergic encephalomyelitis (EAE), an animal model of CNS inflammation.

Results

LXR activation inhibited nitric oxide synthase 2, inducible (Nos2 …

Progressive Cognitive Deficit, Motor Impairment And Striatal Pathology In A Transgenic Huntington Disease Monkey Model From Infancy To Adulthood, Anthony W. S. Chan, Jie Jiang, Yiju Chen, Chunxia Li, Melinda S. Prucha, Yijuan Hu, Tim Chi, Sean Moran, Tayeb Rahim, Shihua Li, Xiaojiang Li, Stuart M. Zola, Claudia M. Testa, Hui Mao, Rosa Villalba, Yoland Smith, Xiaodong Zhang, Jocelyne Bachevalier

Neurology Publications

One of the roadblocks to developing effective therapeutics for Huntington disease (HD) is the lack of animal models that develop progressive clinical traits comparable to those seen in patients. Here we report a longitudinal study that encompasses cognitive and motor assessment, and neuroimaging of a group of transgenic HD and control monkeys from infancy to adulthood. Along with progressive cognitive and motor impairment, neuroimaging revealed a progressive reduction in striatal volume. Magnetic resonance spectroscopy at 48 months of age revealed a decrease of N-acetylaspartate (NAA), further suggesting neuronal damage/loss in the striatum. Postmortem neuropathological analyses revealed significant neuronal loss in …

We Happy Few: Accomplishments In Calendar 2014, Edward F. Ansello

Director's Editorials from Age in Action

The Virginia Center on Aging recognizes strides its staff has made in confronting elder abuse and domestic violence in later life; building and improving lifelong learning opportunities across the Commonwealth for mid-life and older adults; delivering interprofessional geriatrics training for health care providers and measuring the impacts of this training upon the patients they care for; training clinical students to partner across professions to improve geriatrics care; developing and delivering education and training programs to audiences in state, regional, and national conferences and webinars on topics ranging from gerontological education to aging with lifelong disabilities, community health to interdisciplinary teamwork; …

Spag17 Deficiency Results In Skeletal Malformations And Bone Abnormalities, Maria Eugenia Teves, Gobalakrishnan Sundaresan, David J. Cohen, Sharon L. Hyzy, Illya Kajan, Melissa Maczis, Zhibing Zhang, Richard M. Costanzo, Jamal Zweit, Zvi Schwartz, Barbara` D. Boyan, Jerome F. Strauss Iii

Obstetrics and Gynecology Publications

Height is the result of many growth and development processes. Most of the genes associated with height are known to play a role in skeletal development. Single-nucleotide polymorphisms in the SPAG17 gene have been associated with human height. However, it is not clear how this gene influences linear growth. Here we show that a targeted mutation in Spag17 leads to skeletal malformations. Hind limb length in mutants was significantly shorter than in wild-type mice. Studies revealed differences in maturation of femur and tibia suggesting alterations in limb patterning. Morphometric studies showed increased bone formation evidenced by increased trabecular bone area …

Sperm Associated Antigen 6 (Spag6) Regulates Fibroblast Cell Growth, Morphology, Migration And Ciliogenesis, Wei Li, Abir Mukherjee, Jinhua Wu, Ling Zhang, Maria E. Teves, Hongfei Li, Shanti Nambiar, Scott C. Henderson, Alan R. Horwitz, Jerome F. Strauss Iii, Xianjun Fang, Zhibing Zhang

Obstetrics and Gynecology Publications

Mammalian Spag6 is the orthologue of Chlamydomonas PF16, which encodes a protein localized in the axoneme central apparatus, and regulates flagella/cilia motility. Most Spag6-deficient mice are smaller in size than their littermates. Because SPAG6 decorates microtubules, we hypothesized that SPAG6 has other roles related to microtubule function besides regulating flagellar/cilia motility. Mouse embryonic fibroblasts (MEFs) were isolated from Spag6-deficient and wild-type embryos for these studies. Both primary and immortalizedSpag6-deficient MEFs proliferated at a much slower rate than the wild-type MEFs, and they had a larger surface area. Re-expression of SPAG6 in the Spag6-deficient MEFs …

Screening And Surveillance Ct Abdomen/Pelvis For Metastases In Patients With Soft-Tissue Sarcoma Of The Extremity, M. J. Thompson, J. Ross, G. Domson, W. Foster

Orthopaedic Surgery Publications

Objectives The clinical utility of routine cross sectional imaging of the abdomen and pelvis in the screening and surveillance of patients with primary soft-tissue sarcoma of the extremities for metastatic disease is controversial, based on its questionable yield paired with concerns regarding the risks of radiation exposure, cost, and morbidity resulting from false positive findings.

Methods Through retrospective review of 140 patients of all ages (mean 53 years; 2 to 88) diagnosed with soft-tissue sarcoma of the extremity with a mean follow-up of 33 months (0 to 291), we sought to determine the overall incidence of isolated abdominopelvic metastases, their …

Quality Control Material For The Detection Of Somatic Mutations In Fixed Clinical Specimens By Next-Generation Sequencing, Catherine I. Dumur, Jorge A. Almenara, Celeste N. Powers, Andrea Ferreira-Gonzalez

Pathology Publications

Background

Targeted next generation sequencing (NGS) technology to assess the mutational status of multiple genes on formalin-fixed, paraffin embedded (FFPE) tumors is rapidly being adopted in clinical settings, where quality control (QC) practices are required. Establishing reliable FFPE QC materials for NGS can be challenging and/or expensive. Here, we established a reliable and cost-effective FFPE QC material for routine utilization in the Ion AmpliSeq™ Cancer Hotspot Panel v2 (CHP2) assay.

Methods

The performance characteristics of the CHP2 assay were determined by sequencing various cell line mixtures and 55 different FFPE tumors on the Ion Torrent PGM platform. A FFPE QC …

Neuronal Migration: How Do You Build A Brain?, Sravya Uppalapati

AUCTUS: The Journal of Undergraduate Research and Creative Scholarship

Senior biology major Alex Burkard is working in the Walsh Neurodevelopment Laboratory at VCU to help answer the question, ‘How do you build a brain?’ Burkard is researching neuronal migration in Zebrafish and how cellular polarity affects hindbrain development.

Addition Of Interleukin-21 For Expansion Of T-Cells For Adoptive Immunotherapy Of Murine Melanoma, Christine Kathryn Zoon, Wen Wan, Laura Graham, Harry D. Bear

Surgery Publications

We previously demonstrated that interleukin (IL)-7/15 was superior to IL-2 for expansion of T cells in vitrofor adoptive immunotherapy. We sought to ascertain whether IL-21 would further improve yield and therapeutic efficacy of T cells in culture. Naïve T cell receptor (TcR) transgenic splenocytes or antigen-sensitized lymph node cells were harvested from PMEL-1 mice and exposed to bryostatin-1 and ionomycin (B/I) for 18 h. Cells were then cultured in IL-2, IL-21, IL-7/15 or IL-7/15/21 for six days. Harvested cells were analyzed by flow cytometry and used to treat C57Bl/6 mice injected intravenously with B16 melanoma. Lungs were harvested and …

Axon Initial Segment Stability In Multiple Sclerosis, Suneel K. Thummala

Theses and Dissertations

Multiple sclerosis (MS) is an autoimmune disease of the central nervous system characterized by inflammation and demyelination. In addition to these hallmark features, MS also presents with axonal pathology, which is likely responsible for the signs and symptoms of the disease. Although prominent in MS, axonal pathology is frequently considered a consequence of demyelination and not a primary event. This conclusion is consistent with demyelination inducing the loss of specific axonal domains, known as the nodes of Ranvier that are responsible for the propagation of action potentials along the axon. In contrast, we propose that axonal pathology associated with MS …

At What Age Should Screening Mammography Be Recommended For Asian Women?, Junko Tsuchida, Masayuki Nagahashi, Omar M. Rashid, Kazuaki Takabe, Toshifumi Wakai

Surgery Publications

Although regular screening mammography has been suggested to be associated with improvements in the relative survival of breast cancer in recent years, the appropriate age to start screening mammography remains controversial. In November 2009, the United States Preventive Service Task Force published updated guidelines for breast cancer, which no longer support routine screening mammography for women aged 40–49 years, but instead, defer the choice of screening in that age group to the patient and physician. The age to begin screening differs between guidelines, including those from the Task Force, the American Cancer Society and the World Health Organization. It remains …

Iroa: The International Register Of Open Abdomen., Frederico Coccolini, Fausto Catena, Giulia Montori, Marco Ceresoli, Roberto Manfredi, Gabriela Elisa Nita, Ernest E. Moore, Walter Biffl, Rao Ivatury, James Whelan, Gustavo Fraga, Ari Leppaniemi, Massimo Sartelli, Salomone Di Saverio, Luca Ansaloni

Surgery Publications

Actually the most common indications for Open Abdomen (OA) are trauma, abdominal sepsis, severe acute pancreatitis and more in general all those situations in which an intra-abdominal hypertension condition is present, in order to prevent the development of an abdominal compartment syndrome. The mortality and morbidity rate in patients undergone to OA procedures is still high. At present many studies have been published about the OA management and the progresses in survival rate of critically ill trauma and septic surgical patients. However several issues are still unclear and need more extensive studies. The definitions of indications, applications and methods to …

Enucleation After Embolization Of Liver Failure-Causing Giant Liver Hemangioma, Amit Sharma, Matthew Kaspar, Mohammad Siddiqui, Joohyun Kim

Surgery Publications

Patient: Female, 73

Final Diagnosis: Giant liver hemangioma

Symptoms: Abdominal discomfort • abdominal enlargement • Icterus

Medication: —

Clinical Procedure: Enucleation after embolization of liver failure-causing giant liver

Specialty: Surgery

Objective:

Unusual clinical course

Background:

Hepatic hemangioma is a congenital tumor of the mesenchymal tissues of the liver. While typically benign, these tumors can occasionally grow to sufficient size to cause a number of symptoms, including pain, severe hepatic dysfunction, or, rarely, consumptive coagulopathy. In such instances, surgical treatment may be warranted.

Case Report:

We present a case of a symptomatic giant hepatic hemangioma in an elderly patient who presented …