Digital Commons Network^™

Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets With Alopecia Resulting From A Novel Missense Mutation In The Dna-Binding Domain Of The Vitamin D Receptor., Peter J. Malloy, Jining Wang, Tarak Srivastava, David Feldman

Manuscripts, Articles, Book Chapters and Other Papers

The rare genetic recessive disease, hereditary vitamin D resistant rickets (HVDRR), is caused by mutations in the vitamin D receptor (VDR) that result in resistance to the active hormone 1,25-dihydroxyvitamin D(3) (1,25(OH)(2)D(3) or calcitriol). In this study, we examined the VDR from a young boy with clinical features of HVDRR including severe rickets, hypocalcemia, hypophosphatemia and partial alopecia. The pattern of alopecia was very unusual with areas of total baldness, adjacent to normal hair and regions of scant hair. The child failed to improve on oral calcium and vitamin D therapy but his abnormal chemistries and his bone X-rays normalized …

System Development For High Frequency Ultrasound-Guided Fluorescence Quantification Of Skin Layers, Josiah D. Gruber, Akshat Paliwal, Venkataramanan Krishnaswamy, Hamid Ghadyani

Dartmouth Scholarship

No abstract provided.

Definitions Of The Phenotypic Manifestations Of Sickle Cell Disease., Samir K Ballas, Susan Lieff, Lennette J Benjamin, Carlton D Dampier, Matthew M Heeney, Carolyn Hoppe, Cage S Johnson, Zora R Rogers, Kim Smith-Whitley, Winfred C Wang, Marilyn J Telen

Department of Medicine Faculty Papers

Sickle cell disease (SCD) is a pleiotropic genetic disorder of hemoglobin that has profound multiorgan effects. The low prevalence of SCD ( approximately 100,000/US) has limited progress in clinical, basic, and translational research. Lack of a large, readily accessible population for clinical studies has contributed to the absence of standard definitions and diagnostic criteria for the numerous complications of SCD and inadequate understanding of SCD pathophysiology. In 2005, the Comprehensive Sickle Cell Centers initiated a project to establish consensus definitions of the most frequently occurring complications. A group of clinicians and scientists with extensive expertise in research and treatment of …

Interaction Of The Mu-Opioid Receptor With Gpr177 (Wntless) Inhibits Wnt Secretion: Potential Implications For Opioid Dependence., Jay Jin, Saranya Kittanakom, Victoria Wong, Beverly A S Reyes, Elisabeth J Van Bockstaele, Igor Stagljar, Wade Berrettini, Robert Levenson

Department of Neurosurgery Faculty Papers

BACKGROUND: Opioid agonist drugs produce analgesia. However, long-term exposure to opioid agonists may lead to opioid dependence. The analgesic and addictive properties of opioid agonist drugs are mediated primarily via the mu-opioid receptor (MOR). Opioid agonists appear to alter neuronal morphology in key brain regions implicated in the development of opioid dependence. However, the precise role of the MOR in the development of these neuronal alterations remains elusive. We hypothesize that identifying and characterizing novel MOR interacting proteins (MORIPs) may help to elucidate the underlying mechanisms involved in the development of opioid dependence. RESULTS: GPR177, the mammalian ortholog of Drosophila …

The Role Of Surgical Resection In The Management Of Newly Diagnosed Brain Metastases: A Systematic Review And Evidence-Based Clinical Practice Guideline., Steven N Kalkanis, Douglas Kondziolka, Laurie E Gaspar, Stuart H Burri, Anthony L Asher, Charles S Cobbs, Mario Ammirati, Paula D Robinson, David W Andrews, Jay S Loeffler, Michael Mcdermott, Minesh P Mehta, Tom Mikkelsen, Jeffrey J Olson, Nina A Paleologos, Roy A Patchell, Timothy C Ryken, Mark E Linskey

Department of Neurosurgery Faculty Papers

QUESTION: Should patients with newly-diagnosed metastatic brain tumors undergo open surgical resection versus whole brain radiation therapy (WBRT) and/or other treatment modalities such as radiosurgery, and in what clinical settings? Target population These recommendations apply to adults with a newly diagnosed single brain metastasis amenable to surgical resection. Recommendations Surgical resection plus WBRT versus surgical resection alone Level 1 Surgical resection followed by WBRT represents a superior treatment modality, in terms of improving tumor control at the original site of the metastasis and in the brain overall, when compared to surgical resection alone. Surgical resection plus WBRT versus SRS +/- …

Recent Advances On Skin-Resident Stem/Progenitor Cell Functions In Skin Regeneration, Aging And Cancers And Novel Anti-Aging And Cancer Therapies., Murielle Mimeault, Surinder K. Batra

Journal Articles: Biochemistry & Molecular Biology

Recent advances in skin-resident adult stem/progenitor cell research have revealed that these immature and regenerative cells with a high longevity provide critical functions in maintaining skin homeostasis and repair after severe injuries along the lifespan of individuals. The establishment of the functional properties of distinct adult stem/progenitor cells found in skin epidermis and hair follicles and extrinsic signals from their niches, which are deregulated during their aging and malignant transformation, has significantly improved our understanding on the etiopathogenesis of diverse human skin disorders and cancers. Particularly, enhanced ultraviolet radiation exposure, inflammation and oxidative stress and telomere attrition during chronological aging …

Event-Related Potentials Dissociate Effects Of Salience And Space In Biased Competition For Visual Representation, Matthew R. Hilimire, Jeffrey R.W. Mounts, Nathan A. Parks, Paul M. Corballis

Psychology

Background: Selective visual attention is the process by which the visual system enhances behaviorally relevant stimuli and filters out others. Visual attention is thought to operate through a cortical mechanism known as biased competition. Representations of stimuli within cortical visual areas compete such that they mutually suppress each others' neural response. Competition increases with stimulus proximity and can be biased in favor of one stimulus (over another) as a function of stimulus significance, salience, or expectancy. Though there is considerable evidence of biased competition within the human visual system, the dynamics of the process remain unknown. Methodology/Principal Findings: Here, we …

The Role Of Chemotherapy In The Management Of Newly Diagnosed Brain Metastases: A Systematic Review And Evidence-Based Clinical Practice Guideline., Minesh P Mehta, Nina A Paleologos, Tom Mikkelsen, Paula D Robinson, Mario Ammirati, David W Andrews, Anthony L Asher, Stuart H Burri, Charles S Cobbs, Laurie E Gaspar, Douglas Kondziolka, Mark E Linskey, Jay S Loeffler, Michael Mcdermott, Jeffrey J Olson, Roy A Patchell, Timothy C Ryken, Steven N Kalkanis

Department of Neurosurgery Faculty Papers

TARGET POPULATION: This recommendation applies to adults with newly diagnosed brain metastases; however, the recommendation below does not apply to the exquisitely chemosensitive tumors, such as germinomas metastatic to the brain.

RECOMMENDATION: Should patients with brain metastases receive chemotherapy in addition to whole brain radiotherapy (WBRT)? Level 1 Routine use of chemotherapy following WBRT for brain metastases has not been shown to increase survival and is not recommended. Four class I studies examined the role of carboplatin, chloroethylnitrosoureas, tegafur and temozolomide, and all resulted in no survival benefit. Two caveats are provided in order to allow the treating physician to …

The Role Of Stereotactic Radiosurgery In The Management Of Patients With Newly Diagnosed Brain Metastases: A Systematic Review And Evidence-Based Clinical Practice Guideline., Mark E Linskey, David W Andrews, Anthony L Asher, Stuart H Burri, Douglas Kondziolka, Paula D Robinson, Mario Ammirati, Charles S Cobbs, Laurie E Gaspar, Jay S Loeffler, Michael Mcdermott, Minesh P Mehta, Tom Mikkelsen, Jeffrey J Olson, Nina A Paleologos, Roy A Patchell, Timothy C Ryken, Steven N Kalkanis

Department of Neurosurgery Faculty Papers

QUESTION: Should patients with newly-diagnosed metastatic brain tumors undergo stereotactic radiosurgery (SRS) compared with other treatment modalities? Target population These recommendations apply to adults with newly diagnosed solid brain metastases amenable to SRS; lesions amenable to SRS are typically defined as measuring less than 3 cm in maximum diameter and producing minimal (less than 1 cm of midline shift) mass effect. Recommendations SRS plus WBRT vs. WBRT alone Level 1 Single-dose SRS along with WBRT leads to significantly longer patient survival compared with WBRT alone for patients with single metastatic brain tumors who have a KPS > or = 70.Level 1 …

The Most Important Medical Source: Aunt Mabel Knows Best., Lawrence Parish, Joseph A Witkowski

Department of Dermatology and Cutaneous Biology Faculty Papers

Not so long ago, one of us was consulted by a middle-aged woman with rosacea. For many years, she had had periodic flares of red papules and pustules on her nose and the adjoining areas. The confluent telangiectasia on her cheeks gave a permanent appearance of well-applied rouge. She had seen several dermatologists and had received a wide variety of medications, all of which seemed appropriate except to her as would be subsequently revealed. She wanted a new approach, but there were limitations placed upon her request: no pills or capsules; nothing odiferous; no agent that might bleach clothing; and …

Differential Gene Expression Profile Of Retinoblastoma Compared To Normal Retina., Arupa Ganguly, Carol L Shields

Wills Eye Hospital Papers

PURPOSE: The retinoblastoma gene (RB1) is a tumor suppressor gene that was first discovered in a rare ocular pediatric tumor called retinoblastoma (RB). The RB1 gene is essential for normal progression through the cell cycle and exerts part of its function through the family of transcription factors (E2F) and many other intermediaries. In the absence of normal RB1, genomic instability and chromosomal aberrations accumulate, leading to tumor initiation, progression, and ultimately metastasis. The purpose of this report was to identify the molecular pathways that are deregulated in retinoblastoma.

METHODS: We compared gene expression signatures of matched normal retinal tissue and …

Fdg-Pet Staging And Importance Of Lymph Node Suv In Head And Neck Cancer., Gregory J Kubicek, Collin Champ, Shannon Fogh, Fen Wang, Eashwer Reddy, Charles Intenzo, Reginald W Dusing, Mitchell Machtay

Department of Radiation Oncology Faculty Papers

OBJECTIVES: The role of positron emission tomography (PET) with fluoro-deoxy-glucose (FDG) in the staging of head and neck cancer (HNC) is unclear. The NCCN guidelines do not recommend FDG-PET as a part of standard workup. The purpose of this report is to examine the role of FDG-PET imaging in altering management and providing prognostic information for HNC.

METHODS: Retrospective review of HNC patients who had a staging FDG-PET scan performed at either Thomas Jefferson University or University of Kansas Medical Center between the years 2001 and 2007. A total of 212 PET scans were performed in patients who went on …

A New Design For A Turing Test For Bots, Philip Hingston

Research outputs pre 2011

Interesting, human-like opponents add to the entertainment value of a video game, and creating such opponents is a difficult challenge for programmers. Can artificial intelligence and computational intelligence provide the means to convincingly simulate a human opponent? Or are simple programming tricks and deceptions more effective? To answer these questions, the author designed and organised a game bot programming competition, the BotPrize, in which competitors submit bots that try to pass a “Turing Test for Bots”. In this paper, we describe a new design for the competition, which will make it simpler to run, and, we hope, open up new …

A Quantitative And Qualitative Evaluation Of Reports Of Clinical Trials Published In Six Brazilian Dental Journals Indexed In The Scientific Electronic Library Online (Scielo)., Souza Rf De, Cdal Chaves, Mona Nasser, Zbys Fedorowicz

More Faculty of Health Research

INTRODUCTION: Open access publishing is becoming increasingly popular within the biomedical sciences. SciELO, the Scientific Electronic Library Online, is a digital library covering a selected collection of Brazilian scientific journals many of which provide open access to full-text articles.This library includes a number of dental journals some of which may include reports of clinical trials in English, Portuguese and/or Spanish. Thus, SciELO could play an important role as a source of evidence for dental healthcare interventions especially if it yields a sizeable number of high quality reports. OBJECTIVE: The aim of this study was to identify reports of clinical trials …

Hand And Ultrasonic Instrumentation For Orthograde Root Canal Treatment Of Permanent Teeth., Vinicius Pedrazzi, Oliveira-Neto Jm De, Patrick Sequeira, Zbys Fedorowicz, Mona Nasser

More Faculty of Health Research

UNLABELLED: Root canal treatment is a frequently performed dental procedure and is carried out on teeth in which irreversible pulpitis has led to necrosis of the dental pulp. Removal of the necrotic tissue remnants and cleaning and shaping of the root canal are important phases of root canal treatment. Treatment options include the use of hand and rotary instruments and methods using ultrasonic or sonic equipment. OBJECTIVES: The objectives of this systematic review of randomized controlled trials were to determine the relative clinical effectiveness of hand instrumentation versus ultrasonic instrumentation alone or in conjunction with hand instrumentation for orthograde root …

Social Support In An Internet Weight Loss Community, Kevin O Hwang, Allison J Ottenbacher, Angela P Green, M Roseann Cannon-Diehl, Oneka Richardson, Elmer V Bernstam, Eric J Thomas

Faculty, Staff and Student Publications

Purpose: To describe social support for weight loss shared by members of a large Internet weight loss community.

Methods: We conducted a mixed-methods study with surveys (n=193) and interviews (n=13) of community members along with a content analysis of discussion forum messages (n=1924 messages). Qualitative data were analyzed for social support themes.

Results: Survey respondents were primarily white (91.4%) and female (93.8%) with mean age 37.3 years and mean body mass index 30.9. They used forums frequently, with 56.8% reading messages, 36.1% replying to messages, and 18.5% posting messages to start a discussion related to weight loss on a daily …

Does Diabetes Mellitus Influence Pathologic Complete Response And Tumor Downstaging After Neoadjuvant Chemoradiation For Esophageal And Gastroesophageal Cancer? A Two-Institution Report., Shayna L. Showalter, Ernest L. Rosato, P Rani Anne, Walter Scott, Edith Mitchell, Adam C. Berger

Department of Surgery Faculty Papers

BACKGROUND: Esophageal carcinoma is an aggressive disease that is often treated with neoadjuvant therapy followed by surgical resection. Diabetes mellitus (DM) has been associated with reduced efficacy of chemoradiation (CRT) in other gastrointestinal cancers. The goal of this study was to determine if DM affects response to neoadjuvant CRT in the management of gastroesophageal carcinoma.

METHODS: We retrospectively reviewed the esophageal cancer patient databases and subsequently analyzed those patients who received neoadjuvant CRT followed by surgical resection at two institutions, Thomas Jefferson University (TJUH) and Fox Chase Cancer Center (FCCC). Comparative analyses of rates of pathologic complete response rate (pCR) …

More Than Synaptic Plasticity: Role Of Nonsynaptic Plasticity In Learning And Memory, Riccardo Mozzachiodi, John H Byrne

Faculty, Staff and Student Publications

Decades of research on the cellular mechanisms of memory have led to the widely held view that memories are stored as modifications of synaptic strength. These changes involve presynaptic processes, such as direct modulation of the release machinery, or postsynaptic processes, such as modulation of receptor properties. Parallel studies have revealed that memories might also be stored by nonsynaptic processes, such as modulation of voltage-dependent membrane conductances, which are expressed as changes in neuronal excitability. Although in some cases nonsynaptic changes can function as part of the engram itself, they might also serve as mechanisms through which a neural circuit …

Imaging Spontaneous Mmtvneu Transgenic Murine Mammary Tumors: Targeting Metabolic Activity Versus Genetic Products., Mathew L Thakur, Devakumar Devadhas, Kaijun Zhang, Richard G Pestell, Chenguang Wang, Peter Mccue, Eric Wickstrom

Department of Radiology Faculty Papers

INTRODUCTION: Despite the great strides made in imaging breast cancer (BC) in humans, the current imaging modalities miss up to 30% of BC, do not distinguish malignant lesions from benign ones, and require histologic examinations for which invasive biopsy must be performed. Annually in the United States, approximately 5.6 million biopsies find benign lesions. More than 50% of human BCs overexpress cyclin D1, and all BCs exhibit VPAC1 oncogene products. Together, these gene products may provide an excellent biomarker for the early and accurate detection of BC. We have evaluated 4 biologically active peptide analogs that have high affinity for …

Less Food For Thought. Impact Of Attentional Instructions On Intrusive Thoughts About Snack Foods., Jon May, Jackie Andrade, Helen Batey, Lisa Marie Berry, David J. Kavanagh

School of Psychology

Intrusive thoughts about food may play a role in unhealthy eating behaviours. Food-related thoughts that capture attention can lead to craving and further intrusive thoughts (Kavanagh, Andrade, & May, 2005). We tested whether diverting attention to mental images or bodily sensations would reduce the incidence of intrusive thoughts about snack foods. In two experiments, participants reported their thoughts in response to probes during three 10min periods. In the Baseline and Post-task period, participants were asked to let their mind wander. In the middle, Experimental, period, participants followed mind wandering (Control), thought diversion, or Thought Suppression instructions. Self-directed or Guided Imagery, …

Impact Of Workplace Based Assessment On Doctors' Education And Performance: A Systematic Review., A Miller, J Archer

Peninsula Medical School

To investigate the literature for evidence that workplace based assessment affects doctors' education and performance.

Bio-Informatics Analysis Of A Gene Co-Expression Module In Adipose Tissue Containing The Diet-Responsive Gene Nnat., X Li.X, Pa Thomason, Dj Withers, J Scott

Peninsula Medical School

Obesity causes insulin resistance in target tissues - skeletal muscle, adipose tissue, liver and the brain. Insulin resistance predisposes to type-2 diabetes (T2D) and cardiovascular disease (CVD). Adipose tissue inflammation is an essential characteristic of obesity and insulin resistance. Neuronatin (Nnat) expression has been found to be altered in a number of conditions related to inflammatory or metabolic disturbance, but its physiological roles and regulatory mechanisms in adipose tissue, brain, pancreatic islets and other tissues are not understood.

The Transition From Medical Student To Junior Doctor: Today's Experiences Of Tomorrow's Doctors., Nicola Brennan, Oonagh Corrigan, Jon Allard, Julian Archer, Rebecca Barnes, Alan Bleakley, Tracey Collett, Bere Sr De

Peninsula Medical School

CONTEXT Medical education in the UK has recently undergone radical reform. Tomorrow's Doctors has prescribed undergraduate curriculum change and the Foundation Programme has overhauled postgraduate education. OBJECTIVES This study explored the experiences of junior doctors during their first year of clinical practice. In particular, the study sought to gain an understanding of how junior doctors experienced the transition from the role of student to that of practising doctor and how well their medical school education had prepared them for this. METHODS The study used qualitative methods comprising of semi-structured interviews and audio diary recordings with newly qualified doctors based at …

Cross-Trimester Repeated Measures Testing For Down's Syndrome Screening: An Assessment., D. Wright, I. Bradbury, F. Malone, M. D'Alton, A. Summers, T. Huang, S. Ball, A. Baker, B. Nix, D. Aitken, J. Crossley, H. Cuckle, K. Spencer

Peninsula Medical School

OBJECTIVES: To provide estimates and confidence intervals for the performance (detection and false-positive rates) of screening for Down's syndrome using repeated measures of biochemical markers from first and second trimester maternal serum samples taken from the same woman. DESIGN: Stored serum on Down's syndrome cases and controls was used to provide independent test data for the assessment of screening performance of published risk algorithms and for the development and testing of new risk assessment algorithms. SETTING: 15 screening centres across the USA, and at the North York General Hospital, Toronto, Canada. PARTICIPANTS: 78 women with pregnancy affected by Down's syndrome …

Negative Intrusive Thoughts And Dissociation As Risk Factors For Self-Harm., Helen Batey, Jon May, Jackie Andrade

School of Psychology

Relationships between self-harm and vulnerability factors were studied in a general population of 432 participants, of whom 30% reported some experience of self-harm. This group scored higher on dissociation and childhood trauma, had lower self-worth, and reported more negative intrusive thoughts. Among the non-harming group, 10% scored similarly to the self-harmers on the dissociation and self-worth scales, and engaged in potentially maladaptive behaviors that are not defined as indicating clinical self-harm, but experienced fewer negative intrusive thoughts. This group may be at risk of future self-harm if they begin to experience negative intrusive thoughts. If negative intrusive thoughts are playing …

Temporal Distance And Person Memory: Thinking About The Future Changes Memory For The Past., Na Wyer, Tj Perfect, S Pahl

School of Psychology

Psychological distance has been shown to influence how people construe an event such that greater distance produces high-level construal (characterized by global or holistic processing) and lesser distance produces low-level construal (characterized by detailed or feature-based processing). The present research tested the hypothesis that construal level has carryover effects on how information about an event is retrieved from memory. Two experiments manipulated temporal distance and found that greater distance (high-level construal) improves face recognition and increases retrieval of the abstract features of an event, whereas lesser distance (low-level construal) impairs face recognition and increases retrieval of the concrete details of …

Neuronal Network Pharmacodynamics Of Gabaergic Modulation In The Human Cortex Determined Using Pharmaco-Magnetoencephalography., Stephen D. Hall, Gareth R. Barnes, Paul L. Furlong, Stefano Seri, Arjan Hillebrand

School of Psychology

Neuronal network oscillations are a unifying phenomenon in neuroscience research, with comparable measurements across scales and species. Cortical oscillations are of central importance in the characterization of neuronal network function in health and disease and are influential in effective drug development. Whilst animal in vitro and in vivo electrophysiology is able to characterize pharmacologically induced modulations in neuronal activity, present human counterparts have spatial and temporal limitations. Consequently, the potential applications for a human equivalent are extensive. Here, we demonstrate a novel implementation of contemporary neuroimaging methods called pharmaco-magnetoencephalography. This approach determines the spatial profile of neuronal network oscillatory power …

Anomalous Constitutive Src Kinase Activity Promotes B Lymphoma Survival And Growth, Jiyuan Ke, R. Lakshman Chelvarajan, Vishal Sindhava, Darrell A. Robertson, Lazaros Lekakis, C. Darrell Jennings, Subbarao Bondada

Microbiology, Immunology, and Molecular Genetics Faculty Publications

Background: Previously we have shown that B cell receptor (BCR) expression and B cell receptor signaling pathways are important for the basal growth of B lymphoma cells. In particular we have shown that the activation of Syk, a non-src family protein tyrosine kinase and the mitogen activated protein kinases (MAPK), ERK and JNK that mediate BCR signals are required for the constitutive growth of B lymphoma cells. Since src family protein tyrosine kinases (SFKs) like Lyn are known to be needed for the phosphorylation of BCR co-receptors, Ig-alpha and Ig-beta, we hypothesized that one or more SFKs will be constitutively …

Fagerstrom Test For Nicotine Dependence Vs Heavy Smoking Index In A General Population Survey, M. Pérez-Ríos, M. I. Santiago-Pérez, B. Alonso, A. Malvar, X. Hervada, Jose De Leon

Psychiatry Faculty Publications

BACKGROUND: The Fagerström Test for Nicotine Dependence (FTND) is used for assessing nicotine dependence. A shorter test derived from the FTND used for the general population is the Heavy Smoking Index (HSI) (six questions vs. two). The objective of this study is to compare the validity of the HSI versus the FTND.

METHODS: A survey of tobacco use in the general population was carried out in the northern Spanish region of Galicia using both the FTND and the HSI to study a representative sample of 1655 daily smokers. The HSI was compared with the FTND, considered the gold standard. Measures …

The Principled Control Of False Positives In Neuroimaging, Craig M. Bennett, George L. Wolford, Michael B. Miller

Dartmouth Scholarship

An incredible amount of data is generated in the course of a functional neuroimaging experiment. The quantity of data gives us improved temporal and spatial resolution with which to evaluate our results. It also creates a staggering multiple testing problem. A number of methods have been created that address the multiple testing problem in neuroimaging in a principled fashion. These methods place limits on either the familywise error rate (FWER) or the false discovery rate (FDR) of the results. These principled approaches are well established in the literature and are known to properly limit the amount of false positives across …