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Oxidative Stress Status Of Individuals Involved In Traffic Accidents*, Bora Özdemi̇r, Atilhan Kaya, Özgür Söğüt, Hali̇l Kaya, Mehmet Tahi̇r Gökdemi̇r, Osman Celbi̇ş Jan 2012

Oxidative Stress Status Of Individuals Involved In Traffic Accidents*, Bora Özdemi̇r, Atilhan Kaya, Özgür Söğüt, Hali̇l Kaya, Mehmet Tahi̇r Gökdemi̇r, Osman Celbi̇ş

Turkish Journal of Medical Sciences

To investigate the role of the oxidative stress status of drivers involved in traffic accidents as a risk factor. Materials and methods: Twenty-six drivers and 28 passengers involved in traffic accidents and 31 healthy control drivers and 30 healthy control pedestrians were enrolled in the present study. The total antioxidant status (TAS) and total oxidant status (TOS) were measured in blood samples. Results: The mean value of the TOS level in drivers involved in traffic accidents was significantly higher than that of the control pedestrians (P =< 0.05). The mean value of the TAS level in passengers involved in traffic accidents was significantly lower than that of the control drivers and pedestrians (P =< 0.001 and P =< 0.01, respectively). Conclusion: This is the first study assessing the oxidative markers of individuals involved in a traffic accident compared with a control group. The results reveal that involvement in a traffic accident has an effect on oxidative markers. However, further studies are required in order to use the oxidative stress status of drivers involved in traffic accidents as a marker for estimating the accident risk.


Associated Organ Injuries In Pancreatic Injuries, Morbidity, And Mortality, Akin Önder, Metehan Gümüş, Murat Kapan, Abdullah Böyük, Zülfü Arikanoğlu, Sadullah Gi̇rgi̇n Jan 2012

Associated Organ Injuries In Pancreatic Injuries, Morbidity, And Mortality, Akin Önder, Metehan Gümüş, Murat Kapan, Abdullah Böyük, Zülfü Arikanoğlu, Sadullah Gi̇rgi̇n

Turkish Journal of Medical Sciences

Aim: Pancreatic injuries are rarely seen due to the retroperitoneal location of the organ. Associated organ and vascular structures usually accompany injury. In this study, the effect of ductal injury and associated organ injuries on morbidity and mortality was investigated. Materials and methods: Between January 2004 and October 2010, 26 patients with abdominal trauma who developed pancreatic injury and underwent surgery at the Dicle University General Surgery Department were evaluated retrospectively. Results: Of the 26 patients, 20 were males (76.9%) and 6 (23.1%) were females. The mean age of the patients was 24.96 ± 9.4 (14-56) years. Of the injuries, …


Serum Interleukin-8 Levels May Predict Relapse In Brucellosis, Nazlim Aktuğ Demi̇r, Onur Ural Jan 2012

Serum Interleukin-8 Levels May Predict Relapse In Brucellosis, Nazlim Aktuğ Demi̇r, Onur Ural

Turkish Journal of Medical Sciences

To investigate whether cytokines are effective in predicting relapses among patients with acute brucellosis. Materials and methods: This trial was conducted in 42 patients who were being followed-up with diagnosis of acute brucellosis. Serum samples were obtained on days 0 and 45. In patients whose clinical symptoms recurred within a year of treatment and exhibited infectious parameters in compliance with brucellosis, a Rivanol standard tube agglutination (STA) test was performed and the diagnosis of relapse was based on brucella immunoglobulin M (IgM). Serum samples were evaluated for various parameters, namely tumor necrosis factor-alpha (TNF-\alpha), interferon-gamma (IFN-\gamma), interleukin 2 (IL-2), IL-4, …


Microalbumin Excretion And Outcome In Children With Multicystic Dysplastic Kidney, İpek Aki̇l, Neşe Biyikli, Pinar Yazici, Beyhan Cengi̇z Özyurt, Hari̇ka Alpay Jan 2012

Microalbumin Excretion And Outcome In Children With Multicystic Dysplastic Kidney, İpek Aki̇l, Neşe Biyikli, Pinar Yazici, Beyhan Cengi̇z Özyurt, Hari̇ka Alpay

Turkish Journal of Medical Sciences

To present the long-term follow-up results of children with multicystic dysplastic kidney (MCDK) and urinary microalbumin excretion levels in order to evaluate whether there is an increased risk of renal damage or not. Materials and methods: Thirty-three children with the diagnosis of MCDK who had been followed up by the nephrology outpatient clinic between 2002 and 2009 were invited to participate in the study. Twenty-six healthy children were investigated as a control group for microalbumin/creatinine ratio (µg/g creatinine). The mean age at diagnosis, the duration of follow-up, accompanying urinary tract abnormalities, attacks of urinary tract infection (UTI), contralateral kidney size, …


Results Of Robotic Radical Prostatectomy In The Hands Of Surgeons Without Previous Laparoscopic Radical Prostatectomy Experience, Abdullah Erdem Canda, Ali̇ Fuat Atmaca, Zi̇ya Akbulut, Erem Asi̇l, Meti̇n Kiliç, Abi̇di̇n Egemen İşgören, Mevlana Derya Balbay Jan 2012

Results Of Robotic Radical Prostatectomy In The Hands Of Surgeons Without Previous Laparoscopic Radical Prostatectomy Experience, Abdullah Erdem Canda, Ali̇ Fuat Atmaca, Zi̇ya Akbulut, Erem Asi̇l, Meti̇n Kiliç, Abi̇di̇n Egemen İşgören, Mevlana Derya Balbay

Turkish Journal of Medical Sciences

We report our initial experience related with robot-assisted laparoscopic radical prostatectomy (RALRP) performed by a urologic surgeon without previous laparoscopic radical prostatectomy (LRP) experience. Materials and methods: The data of the first 70 patients who underwent RALRP between February 2009 and February 2010 are presented. Results: Mean console time was 214 ± 55.5 min with pelvic lymph node dissection (LND) in 14 patients. Mean intraoperative blood loss was 215 ± 227.3 cc. Fourteen patients had positive surgical margins: pT3 (n = 12) and pT2 (n = 2). Lodge drains and urethral catheters were removed at a mean of 2.9 ± …


Maxillofacial Trauma With Head Injuries At A Tertiary Care Hospital In Chitwan, Nepal: Clinical, Medico-Legal, And Critical Care Concerns, Santosh Kumar Yadav, Birendra Kumar Mandal, Abhishek Karn, Ajit Kumar Sah Jan 2012

Maxillofacial Trauma With Head Injuries At A Tertiary Care Hospital In Chitwan, Nepal: Clinical, Medico-Legal, And Critical Care Concerns, Santosh Kumar Yadav, Birendra Kumar Mandal, Abhishek Karn, Ajit Kumar Sah

Turkish Journal of Medical Sciences

Maxillofacial trauma is commonly associated with other injuries, predominantly head injuries. The present study aimed to evaluate types of injury, management, and outcome of patients sustaining maxillofacial trauma and concomitant cranial injuries. Materials and methods: A retrospective study was carried out in the department of oral and maxillofacial surgery. A case series of 63 patients who were admitted to the intensive care unit with maxillofacial trauma and head injuries was evaluated. The data were then compiled systematically and analyzed using SPSS for Windows and values of P < 0.05 were considered significant and P < 0.0001 as highly significant. Results: Among the 63 patients, the majority of them had had roadside accidents (90%) and there was a predominant sex bias with a male to female ratio of 7:1. Fractured maxilla and nasal bones were the most commonly encountered injuries (49.21%), followed by mandibular fractures (38.09%). Forty-two patients (66.67%) required mechanical ventilation, tracheostomy was needed in 19 (30.16%) patients, and 42 (66.67%) patients were operated on for head injuries. The majority of the victims were aged between 15 and 40 years. Conclusion: Maxillofacial trauma with head injuries demands special attention as airway compromise is invariably present. Equally critical is the surgical intervention as simultaneously cranial and maxillofacial surgeries were performed. Preventive measures and legislation regarding traffic rules require a review also as the higher incidence of accidents among young adults has acquired epidemic status.


Autophagy And Apoptotic Genes Implicated In Alzheimer’S Disease Are Modulated Following Infection Of Neuronal Cells With Chlamydia Pneumoniae, Denah M. Appelt, Ian Kohler, Annette K. Slutter, Juliana Zoga, Susan T. Hingley, Brian J. Balin Jan 2012

Autophagy And Apoptotic Genes Implicated In Alzheimer’S Disease Are Modulated Following Infection Of Neuronal Cells With Chlamydia Pneumoniae, Denah M. Appelt, Ian Kohler, Annette K. Slutter, Juliana Zoga, Susan T. Hingley, Brian J. Balin

Scholarly Posters

Background: The focus of the current studies was to determine the relationship between the molecular mechanisms interconnecting autophagy and apoptosis following Chlamydia pneumoniae infection in neuronal cells. Dysfunctions in apoptosis and autophagy have been implicated in the neurodegeneration associated with Alzheimer’s disease (AD). Autophagy in AD pathogenesis has been shown to play a role in amyloid processing through the endosomal-lysosomal system. Apoptosis may contribute to the neuronal cell loss observed in AD; however, there is limited evidence of the apoptotic process proceeding to terminal completion. Although Aβ1-42 has been shown to induce apoptosis in neurons and may be an early …


Dynamics Of Envelope Evolution In Clade C Shiv-Infected Pig-Tailed Macaques During Disease Progression Analyzed By Ultra-Deep Pyrosequencing, For Yue Tso, Damien C. Tully, Sandra Gonzalez, Christopher Quince, On Ho, Patricia Polacino, Ruth M. Ruprecht, Shiu-Lok Hu, Charles Wood Jan 2012

Dynamics Of Envelope Evolution In Clade C Shiv-Infected Pig-Tailed Macaques During Disease Progression Analyzed By Ultra-Deep Pyrosequencing, For Yue Tso, Damien C. Tully, Sandra Gonzalez, Christopher Quince, On Ho, Patricia Polacino, Ruth M. Ruprecht, Shiu-Lok Hu, Charles Wood

Nebraska Center for Virology: Faculty Publications

Understanding the evolution of the human immunodeficiency virus type 1 (HIV-1) envelope during disease progression can provide tremendous insights for vaccine development, and simian-human immunodeficiency virus (SHIV) infection of nonhuman primate provides an ideal platform for such studies. A newly developed clade C SHIV, SHIV-1157ipd3N4, which was able to infect rhesus macaques, closely resembled primary HIV-1 in transmission and pathogenesis, was used to infect several pig-tailed macaques. One of the infected animals subsequently progressed to AIDS, whereas one remained a nonprogressor. The viral envelope evolution in the infected animals during disease progression was analyzed by a bioinformatics approach using ultra-deep …


Genetic Studies Of Complex Human Diseases: Characterizing Snp-Disease Associations Using Bayesian Networks, Bing Han, Xue-Wen Chen, Zohreh Talebizadeh, Hua Xu Jan 2012

Genetic Studies Of Complex Human Diseases: Characterizing Snp-Disease Associations Using Bayesian Networks, Bing Han, Xue-Wen Chen, Zohreh Talebizadeh, Hua Xu

Wayne State University Associated BioMed Central Scholarship

Abstract

Background

Detecting epistatic interactions plays a significant role in improving pathogenesis, prevention, diagnosis, and treatment of complex human diseases. Applying machine learning or statistical methods to epistatic interaction detection will encounter some common problems, e.g., very limited number of samples, an extremely high search space, a large number of false positives, and ways to measure the association between disease markers and the phenotype.

Results

To address the problems of computational methods in epistatic interaction detection, we propose a score-based Bayesian network structure learning method, EpiBN, to detect epistatic interactions. We apply the proposed method to both simulated datasets and …


Sex Differences In The Dopaminergic Regulation Of Courtship, But Not Pairing Behaviors In Zebra Finches, Erin Marie Lowrey Jan 2012

Sex Differences In The Dopaminergic Regulation Of Courtship, But Not Pairing Behaviors In Zebra Finches, Erin Marie Lowrey

Wayne State University Theses

Dopamine is one of the key ingredients in the glue that cements social bonds in vertebrates. The D2 dopamine receptor has been implicated in the regulation of monogamous pair bonding in the prairie vole. While dopamine affects courtship behaviors in the male zebra finch, the behavioral role of dopamine acting at D2 receptors in both males and females deserves further attention. We hypothesized that the D2 receptor would regulate courtship and pairing behaviors in the male and female zebra finch. Sixteen males and females were tested using a repeated measures design. On day 1, the zebra finches were injected with …


Evidence For A Non-Genomic Action Of Testosterone In Skeletal Muscle Which May Improve Athletic Performance: Implications For The Female Athlete, J R Dent, D K Fletcher, Michael Mcguigan Jan 2012

Evidence For A Non-Genomic Action Of Testosterone In Skeletal Muscle Which May Improve Athletic Performance: Implications For The Female Athlete, J R Dent, D K Fletcher, Michael Mcguigan

Research outputs 2012

This review will focus on the proposed second mode of testosterone action (now termed non-genomic) that appears to occur independently of the traditional transcriptional mechanism in mammalian skeletal muscle cells which may enhance skeletal muscle contractile properties. This mechanism of testosterone action differs from the traditional pathway, originating at the cell membrane, having a rapid onset of action, requiring second messengers to execute its effects and is insensitive to inhibitors of traditional androgen receptor action, transcription and protein synthesis. Importantly, unlike the traditional action of testosterone in skeletal muscle, this non-genomic pathway is shown to have a direct acute effect …


Profiling Plasma Peptides For The Identification Of Potential Ageing Biomarkers In Chinese Han Adults, Jiapeng Lu, Yuqing Huang, Youxin Wang, Yan Li, Youjun Zhang, Jingjing Wu, Feifei Zhao, Shijiao Meng, Xinwei Yu, Qingwei Ma, Manshu Song, Naibai Chang, Alan H. Bittles, Wei Wang Jan 2012

Profiling Plasma Peptides For The Identification Of Potential Ageing Biomarkers In Chinese Han Adults, Jiapeng Lu, Yuqing Huang, Youxin Wang, Yan Li, Youjun Zhang, Jingjing Wu, Feifei Zhao, Shijiao Meng, Xinwei Yu, Qingwei Ma, Manshu Song, Naibai Chang, Alan H. Bittles, Wei Wang

Research outputs 2012

Advancing age is associated with cardiovascular disease, diabetes mellitus and cancer, and shows significant inter-individual variability. To identify ageing-related biomarkers we performed a proteomic analysis on 1890 Chinese Han individuals, 1136 males and 754 females, aged 18 to 82 years, using weak cation exchange magnetic bead based MALDI-TOF-MS analysis. The study identified 44 peptides which varied in concentration in different age groups. In particular, apolipoprotein A-I (ApoA1) concentration gradually increased between 18 to 50 years of age, the levels of fibrinogen alpha (FGA) decreased over the same age span, while albumin (ALB) was significantly degraded in middle-aged individuals. In addition, …


Multiple Γ-Secretase Product Peptides Are Coordinately Increased In Concentration In The Cerebrospinal Fluid Of A Subpopulation Of Sporadic Alzheimer's Disease Subjects, Saori Hata, Miyako Taniguchi, Yi Piao, Takeshi Ikeuchi, Anne Fagan, David Holtzman, Randall Bateman, Hamid Sohrabi, Ralph Martins, Sam Gandy, Katsuya Urakami, Toshiharu Suzuki Jan 2012

Multiple Γ-Secretase Product Peptides Are Coordinately Increased In Concentration In The Cerebrospinal Fluid Of A Subpopulation Of Sporadic Alzheimer's Disease Subjects, Saori Hata, Miyako Taniguchi, Yi Piao, Takeshi Ikeuchi, Anne Fagan, David Holtzman, Randall Bateman, Hamid Sohrabi, Ralph Martins, Sam Gandy, Katsuya Urakami, Toshiharu Suzuki

Research outputs 2012

Background: Alcadeinα (Alcα) is a neuronal membrane protein that colocalizes with the Alzheimer's amyloid-β precursor protein (APP). Successive cleavage of APP by β- and γ-secretases generates the aggregatable amyloid-β peptide (Aβ), while cleavage of APP or Alcα by α- and γ-secretases generates non-aggregatable p3 or p3-Alcα peptides. Aβ and p3-Alcα can be recovered from human cerebrospinal fluid (CSF). We have previously reported alternative processing of APP and Alcα in the CSF of some patients with sporadic mild cognitive impairment (MCI) and AD (SAD). Results: Using the sandwich enzyme-linked immunosorbent assay (ELISA) system that detects total p3-Alcα, we determined levels of …


Sterol Lipid Metabolism In Down Syndrome Revisited: Down Syndrome Is Associated With A Selective Reduction In Serum Brassicasterol Levels, Gavin Tansley, Daniel T. Holmes, Dieter Lütjohann, Elizabeth Head, Cheryl L. Wellington Jan 2012

Sterol Lipid Metabolism In Down Syndrome Revisited: Down Syndrome Is Associated With A Selective Reduction In Serum Brassicasterol Levels, Gavin Tansley, Daniel T. Holmes, Dieter Lütjohann, Elizabeth Head, Cheryl L. Wellington

Pharmacology and Nutritional Sciences Faculty Publications

Over the past 15 years, insights into sterol metabolism have improved our understanding of the relationship between lipids and common conditions such as atherosclerosis and Alzheimer's Disease (AD). A better understanding of sterol lipid metabolism in individuals with Down Syndrome (DS) may help elucidate how this population's unique metabolic characteristics influence their risks for atherosclerosis and AD. To revisit the question of whether sterol lipid parameters may be altered in DS subjects, we performed a pilot study to assess traditional serum sterol lipids and lipoproteins, as well as markers of sterol biosynthesis, metabolites, and plant sterols in 20 subjects with …


Aging And Down Syndrome, Elizabeth Head, Wayne Silverman, David Patterson, Ira T. Lott Jan 2012

Aging And Down Syndrome, Elizabeth Head, Wayne Silverman, David Patterson, Ira T. Lott

Pharmacology and Nutritional Sciences Faculty Publications

No abstract provided.


Table Of Contents Jan 2012

Table Of Contents

Journal of the South Carolina Academy of Science

No abstract provided.


Synthesis And Flame Retardant Testing Of New Boronated And Phosphonated Aromatic Compounds, Vladimir Benin, Sravanthi Durganala, Alexander Morgan Jan 2012

Synthesis And Flame Retardant Testing Of New Boronated And Phosphonated Aromatic Compounds, Vladimir Benin, Sravanthi Durganala, Alexander Morgan

Chemistry Faculty Publications

The present report describes the preparation and use of some dimethyl terephthalate derivatives in transition metal-catalyzed coupling reactions to produce new reactive flame retardants. Dimethyl iodoterephthalate and dimethyl 2,5-diiodoterephthalate were successfully employed in the preparation of phosphonic and boronic esters and acids. The latter were tested for heat release with a microcombustion calorimeter (ASTM D7309) to determine the potential for heat release reduction of these flame retardant molecules. The results showed that the addition of boronic or phosphonic acids greatly lowered the heat release, due to a condensed phase (char formation) mechanism. Adding ester groups to the boronic acids or …


Advancing Our Understanding Of The Inheritance And Transmission Of Pectus Excavatum, Lisa Horth, Michael W. Stacey, Virginia K. Proud, Kara Segna, Chelsea Rutherford, Donald Nuss, Robert E. Kelly Jan 2012

Advancing Our Understanding Of The Inheritance And Transmission Of Pectus Excavatum, Lisa Horth, Michael W. Stacey, Virginia K. Proud, Kara Segna, Chelsea Rutherford, Donald Nuss, Robert E. Kelly

Bioelectrics Publications

Pectus excavatum is the most common congenital chest wall abnormality expressed in children, yet its inheritance is poorly understood. Here we present the first comprehensive assessment of the inheritance of this disorder. After evaluating 48 pedigrees and 56 clinical traits of probands and family members, we find strong evidence of autosomal recessive, genetic control for this disorder. Additionally there is likely more than one pectus disease-associated allele, as well as a relatively large number of disease allele carriers in the human population. Some clinical traits appear important and may serve as reliable indicators for predicting the likelihood of pectus excavatum …


A Proposal To Test The Effects Of Factor Ecat1 On Pluripotency, From Reprogramming To Differentiation Of Human Somatic Cells, Vritti R. Goel Jan 2012

A Proposal To Test The Effects Of Factor Ecat1 On Pluripotency, From Reprogramming To Differentiation Of Human Somatic Cells, Vritti R. Goel

CMC Senior Theses

The field of stem cell research has been growing more because of the interest in using stem cells to cure diseases and heal injuries. Human embryonic stem cells, because of the controversy surrounding them—and subsequently the difficulties in acquiring samples of the existing aging cell lines—can only be used in limited capacities. While the development of induced pluripotent stem cells in the last decade has allowed the field to progress closer to medical treatments, the low efficiency of reprogramming a somatic cell to a pluripotent state, and the vast molecular and genomic differences between human embryonic stem cells and human …


Investigating The Impact Of Cd147 And Its Expression On Neurodegenaration And Alzheimer's Disease (Ad), Limbikani J. Kanyenda Jan 2012

Investigating The Impact Of Cd147 And Its Expression On Neurodegenaration And Alzheimer's Disease (Ad), Limbikani J. Kanyenda

Theses: Doctorates and Masters

CD147, also known as basigin, extracellular matrix metalloproteinase inducer, neurothelin, tumour cell-derived collagenase stimulatory factor, M6, HT7, OX47 or gp42, is a transmembrane glycoprotein of the immunoglobulin super-family. It is expressed in many neuronal and non-neuronal tissues with high expression in the hippocampus, pre-frontal cortex, thyroid, heart, early erythroid, amygdala and placenta. This protein is involved in various cellular and biological functions such as lymphocyte migration and maturation, tissue repair, cancer progression, T and B lymphocyte activation and induction of extracellular matrix metalloproteinase. The CD147 protein interacts with with cyclophilin A, cyclophilin B, sterol carrier protein, caveolin-1 and integrins, and …


Laboratory Criteria For Severe Crimean-Congo Haemorrhagic Fever : Letter To The Editor, Mesut Ortatatli, Serdar Ümi̇t Sarici Jan 2012

Laboratory Criteria For Severe Crimean-Congo Haemorrhagic Fever : Letter To The Editor, Mesut Ortatatli, Serdar Ümi̇t Sarici

Turkish Journal of Medical Sciences

No abstract provided.


Stroke Rehabilitation, Length-Of-Stay, And Re-Admission Rates: A Literature Review, Morgen Hagedorn Jan 2012

Stroke Rehabilitation, Length-Of-Stay, And Re-Admission Rates: A Literature Review, Morgen Hagedorn

All Graduate Theses, Dissertations, and Other Capstone Projects

Stroke is shown to be a significant U.S. health problem with a profound impact on the nation’s rising healthcare costs (Hall, Levant, & DeFrances, 2012). Longer patient length-of-stay [LOS] and higher re-admission rates have brought consequences to healthcare systems as institutional budgets are unable to reconcile the additional services and the influx of healthcare demands. Through a comprehensive literature review, the author illustrates the general knowledge available on the stroke experience, on stroke care and rehabilitation, and on patient LOS and re-admission rates. The literature review is based on general medical research with a focus on the stroke population. The …


Higher Il-6 And Il6:Igf Ratio In Patients With Barth Syndrome, Lori D. Wilson, Sadeeka Al-Majid, Cyril Rakovski, Christina D. Schwindt Jan 2012

Higher Il-6 And Il6:Igf Ratio In Patients With Barth Syndrome, Lori D. Wilson, Sadeeka Al-Majid, Cyril Rakovski, Christina D. Schwindt

Mathematics, Physics, and Computer Science Faculty Articles and Research

Background: Barth Syndrome (BTHS) is a serious X-linked genetic disorder associated with mutations in the tafazzin gene (TAZ, also called G4.5). The multi-system disorder is primarily characterized by the following pathologies: cardiac and skeletal myopathies, neutropenia, growth delay, and exercise intolerance. Although growth anomalies have been widely reported in BTHS, there is a paucity of research on the role of inflammation and the potential link to alterations in growth factors levels in BTHS patients.

Methods: Plasma from 36 subjects, 22 patients with Barth Syndrome (0.5 - 24 yrs) and 14 healthy control males (8 - 21 yrs) was …


Overt Cleft Palate Phenotype And Tbx1 Genotype Correlations In Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Sean Herman, Tingwei Guo, Donna M. Mcdonald Mcginn, Anna Blonska, Alan L. Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria Christina Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine Suñer, Jordi Rosell, Wendy R. Kates, Marcella Devoto, Elaine Zackai, Tao Wang, Robert J. Shprintzen, Beverly Emanuel, Bernice Morrow, International Chromosome 22q11.2 Consortium Jan 2012

Overt Cleft Palate Phenotype And Tbx1 Genotype Correlations In Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Sean Herman, Tingwei Guo, Donna M. Mcdonald Mcginn, Anna Blonska, Alan L. Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria Christina Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine Suñer, Jordi Rosell, Wendy R. Kates, Marcella Devoto, Elaine Zackai, Tao Wang, Robert J. Shprintzen, Beverly Emanuel, Bernice Morrow, International Chromosome 22q11.2 Consortium

Communication Disorders Faculty Publications

Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000 – 1/4,000 live births. Approximately 9–11% of patients with this disorder have an overt cleft palate (CP), but the genetic factors responsible for CP in the 22q11DS subset are unknown. The TBX1 gene, a member of the T-box transcription factor gene family, lies within the 22q11.2 region that is hemizygous in patients with 22q11DS. Inactivation of one allele of Tbx1 in the mouse does not result in CP, but inactivation of both alleles does. Based on these data, …


Efficacy Of Increased Ube3a Protein Levels In The Brain In Rescuing The Phenotype Of An Angelman Syndrome Mouse, Jennifer L. Daily Jan 2012

Efficacy Of Increased Ube3a Protein Levels In The Brain In Rescuing The Phenotype Of An Angelman Syndrome Mouse, Jennifer L. Daily

USF Tampa Graduate Theses and Dissertations

Angelman syndrome (AS), a genetic disorder occurring in approximately one in every 15,000 births, is characterized by severe mental retardation, seizures, difficulty speaking and ataxia. The gene responsible for AS was discovered to be UBE3A and encodes an E6-AP ubiquitin ligase. A unique feature of this gene is that it undergoes maternal imprinting in a neuron-specific manner. In the majority of AS cases, there is a mutation or deletion in the maternally inherited UBE3A gene, although other cases are the result of uniparental disomy or mismethylation of the maternal gene. While most human disorders characterized by severe mental retardation involve …


The Formin Fmnl3 Is A Cytoskeletal Regulator Of Angiogenesis, Clare Hetheridge, Alice N. Scott, Rajeeb K. Swain, John W. Copeland, Henry N. Higgs Jan 2012

The Formin Fmnl3 Is A Cytoskeletal Regulator Of Angiogenesis, Clare Hetheridge, Alice N. Scott, Rajeeb K. Swain, John W. Copeland, Henry N. Higgs

Dartmouth Scholarship

The process of angiogenesis requires endothelial cells (ECs) to undergo profound changes in shape and polarity. Although this must involve remodelling of the EC cytoskeleton, little is known about this process or the proteins that control it. We used a co-culture assay of angiogenesis to examine the cytoskeleton of ECs actively undergoing angiogenic morphogenesis. We found that elongation of ECs during angiogenesis is accompanied by stabilisation of microtubules and their alignment into parallel arrays directed at the growing tip. In other systems, similar microtubule alignments are mediated by the formin family of cytoskeletal regulators. We screened a library of human …


Genetically Modified T-Cells Expressing Chimeric Antigen Receptors In The Treatment Of Cancer, Efrat Bruck Jan 2012

Genetically Modified T-Cells Expressing Chimeric Antigen Receptors In The Treatment Of Cancer, Efrat Bruck

The Science Journal of the Lander College of Arts and Sciences

Dr. Carl June and his colleagues at the University of Pennsylvania have succeeded in treating patients with Chronic Lymphocytic Leukemia using gene therapy. Two of the three patients treated sustained a complete remission and one a partial remission. The procedure involved transducing the patients’ T cells to express chimeric antigen receptors which target a particular protein found on both healthy and cancerous B cells. Following infusion of the newly transduced T cells, each patient developed clinical symptoms associated with an intense immune response. Shortly thereafter, tumors were completely eliminated in two of the patients and partially eliminated in the third. …


Epigenetics: A Possible Mechanism Of Memory, Aliza Grossman Rubenstein Jan 2012

Epigenetics: A Possible Mechanism Of Memory, Aliza Grossman Rubenstein

The Science Journal of the Lander College of Arts and Sciences

The following is an excerpt from the introduction to this article: The mind-body connection has fascinated philosophers and scientists for centuries. How is it possible that consciousness arises from a lump of matter known as the brain? How does neurons’ firing affect choice and beliefs? How do the electrochemical properties of the brain allow for the memory of events long after they’ve occurred? One of the most studied of these areas is that of memory. Researchers seek to understand the biological basis behind memory and how that biology is affected in individuals suffering from memory disorders.


Modified-Release Drugs, Chedva Farkas Jan 2012

Modified-Release Drugs, Chedva Farkas

The Science Journal of the Lander College of Arts and Sciences

The following is an excerpt from the introduction to this article: Ever since the discovery of bacteria and their role in the disease process in the mid-1800s, scientists have been heavily involved in the discovery and development of drug therapies and their mechanism of action in the human body. Shortly after the initial discovery came the era of drug discovery of the late 1800s-early 1900s, also known as the “drug revolution” (Dash and Cudworth 1998). Although the drug revolution led to the rapid discovery of many new drugs, pharmacological factors such as dosage forms, drug delivery systems, plasma drug levels, …


Is Etanercept A Safe And Effective Treatment For Ankylosing Spondylitis?, Robyn M. Albert Jan 2012

Is Etanercept A Safe And Effective Treatment For Ankylosing Spondylitis?, Robyn M. Albert

PCOM Physician Assistant Studies Student Scholarship

Objective: The objective of this selective EBM review is to determine whether or not etanercept is a safe and effective treatment for ankylosing spondylitis (AS).

Study Design: Review of three English language randomized control trials published in 2007, 2008, and 2010.

Data Sources: Two double-blind placebo-controlled randomized controlled trials and one placebo-controlled randomized control trial comparing etanercept to placebo were found using PubMed.

Outcomes Measured: Work instability was measured through the Ankylosing Spondylitis Work Instability Scale (AS-WIS) based on scores of 1-20. Quality of life was measured through the EuroQOL-5D (EQ-5D), which assesses mobility, self-care, usual activities, pain/discomfort, and anxiety/depression. …