Diseases Commons^™

Manic Symptoms And Behavioral Dysregulation In Youth With Velocardiofacial Syndrome (22q11.2 Deletion Syndrome)., Alka Aneja, Wanda Fremont, Kevin Antshel, Stephen Faraone, Nuria Abdulsabur, Anne Marie Higgins, Robert Shprintzen, Wendy Kates

Robert J. Shprintzen

Mania and bipolar disorder have been reported in adolescents and adults with velocardiofacial syndrome (VCFS; also known as 22q11.2 deletion syndrome). Children with VCFS have a high prevalence of attention-deficit/hyperactivity disorder (ADHD), which may constitute a risk factor for the eventual development of bipolar disorder in this population. Therefore, we sought to determine whether children with VCFS exhibit more manic symptoms than community controls that also may have learning disorders and ADHD. The study population consisted of 86 children with VCFS and 36 community controls from ages 9 to 15 years, using measures of Young Mania Rating Scale-Parent Version, Schedule …

22q11.2ds Deletion Syndrome: Developmental Milestones In Infants And Toddlers, Nancy Roizen, Kevin Antshel, Wanda Fremont, Nuria Abdulsabur, Anne Marie Higgins, Robert Shprintzen, Wendy Kates

Robert J. Shprintzen

The majority of children with 22q11.2DS deletion syndrome (22q11.2DS) have learning disabilities, and a substantial number have mental retardation. Although cognitive data have been reported on several samples of children with 22q11.2DS, data on their early developmental milestones are limited. Methods: The present study used a retrospective design and asked parents to recall developmental milestones. The participants were 88 children with 22q11.2DS, 47 community controls, and 29 sibling controls. Results: Although very early gross motor and expressive language milestones did not differ significantly from comparison groups, subsequent gross motor and expressive language milestones did, suggesting that children with 22q11.2DS may …

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

Robert J. Shprintzen

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, …

Catatonia In An Adolescent With Velo-Cardio-Facial Syndrome, Gianni Faedda, Lee Wachtel, Anne Marie Higgins, Robert Shprintzen

Robert J. Shprintzen

Velo-cardio-facial syndrome (VCFS) is the most common microdeletion syndrome in humans and is probably the most frequent genetic cause of psychosis currently known. Many psychiatric disorders have been reported to occur in people with VCFS including, but not limited to schizophrenia, unipolar and bipolar mood disorders (with or without psychotic features), schizoaffective disorder, psychosis NOS, social phobia, generalized and separation anxiety, obsessive-compulsive disorder, autism spectrum disorder, cognitive impairment, and ADHD. This report describes the psychiatric onset and development of catatonia in an adolescent female with VCFS that was undiagnosed until 15 years of age. Catatonia may be a relatively common …

Associations Between Performance On The Rey-Osterrieth Complex Figure And Regional Brain Volumes In Children With And Without Velocardiofacial Syndrome, Kevin Antshel, Jena Peebles, Nuria Abdulsabur, Anne Marie Higgins, Nancy Roizen, Robert Shprintzen, Wanda Fremont, Robert Natasi, Wendy Kates

Robert J. Shprintzen

Ninety-two children with velocardiofacial syndrome (VCFS), a genetic disorder caused by a microdeletion of chromosome 22q11.2 and an age, race, and gender-ratio comparable sample of 59 control participants were included in the project. Participants received an MRI as well as a comprehensive neuropsychological battery; the primary outcome measure in the current report is the Rey-Osterrieth Complex Figure (ROCF). Children with VCFS performed less well on the ROCF and have lower whole brain volume compared to controls. After controlling for whole brain volume differences, children with VCFS have bilaterally less parietal lobe gray and white matter yet more frontal lobe white …

Measurement Invariance Of The Kidney Disease And Quality Of Life Instrument (Kdqol-Sf) Across Veterans And Non-Veterans, Karen Saban, Fred Bryant, Dominic Reda, Kevin Stroupe, Denise Hynes

Fred B. Bryant

Background Studies have demonstrated that perceived health-related quality of life (HRQOL) of patients receiving hemodialysis is significantly impaired. Since HRQOL outcome data are often used to compare groups to determine health care effectiveness it is imperative that measures of HRQOL are valid. However, valid HRQOL comparisons between groups can only be made if instrument invariance is demonstrated. The Kidney Disease Quality of Life-Short Form (KDQOL-SF) is a widely used HRQOL measure for patients with chronic kidney disease (CKD) however, it has not been validated in the Veteran population. Therefore, the purpose of this study was to examine the measurement invariance …

Anterior Cervical Foraminotomy: Short Term Outcomes In Patients With Isolated Cervical Radiculopathy, Howard Eisenbrock, Mark Rivkin, Amir Dehdashti

Mark Rivkin

Intro: Anterior cervical foraminotomy (ACF) is a novel approach involving direct decompression of nerve from an offending agent without fusion. Historically, several anterior and posterior approaches were utilized to treat cervical radiculopathy. Anterior cervical discectomy necessitates fusion and is subject to adjacent segment disease as well as loss of ROM. Posterior laminoforaminotomy seldom allows for removal of disc fragment and is associated with higher postoperative pain. Methods: Between May 2010 and March 2013, 16 patients with one or two level cervical spondylosis with radiculopathy without myelopathy who failed conservative therapies such as anti-inflammatory medications, physical therapy or injections underwent anterior …

Hysteresis As A Measure Of Ankle Dysfunction, Alissa Cohen, James Mertz, Peggy Stewart, Michael Warner, Michael Kuchera

Michael Kuchera

There is no abstract for this article.

Kyphotic Progression After Thoracolumbar Burst Fractures Treated Conservatively, With Mis, Or Via Open Approach, Mark Rivkin, Howard Eisenbrock

Mark Rivkin

Management of thoracolumbar burst fractures (AO A3) without neurological deficit is subject to debate in the literature. While TLICS provides guidance for injuries necessitating intervention, it makes little mention of best surgical approaches. Furthermore, intact patients with suspected posterior ligamentous complex injury (TLICS 4) compose an additional level of management uncertainty. Present study examined outcomes for TL burst fractures in neurologically intact patients with suspected disruption of the PLC treated with bracing, MIS, or open fixation and fusion.

The Mind-Body Connection: The Association Between Adolescent Locus Of Control And Indicators Of Physical Health, C. Brahler, James Cropper

C. Jayne Brahler

Locus of control (LOC) describes an individual’s generalized beliefs or expectancies that their reinforcements are under internal versus external control (1). An individual exhibits either an internal or external LOC. This study examines the link between LOC and selected health risk factors in adolescents. A convenience sample of 167 high school physical education students completed a 13-item LOC questionnaire based on Rotter’s 1966 instrument. Various anthropometric measurements, blood pressure, body mass index (BMI), and body fat were recorded on all subjects. A subsample of 61 female students received blood chemistry analysis that included a lipid profile, hemoglobin A1c (HbA1c), Apo …

News From Cart, Patricia Fanning, Amos Nwosu

Patricia J. Fanning

No abstract provided.

Gating Of The Polycystin Ion Channel Signaling Complex In Neurons And Kidney Cells, Patrick Delmas, Surya Nauli, Xiaogang Li, Bertrand Coste, Nancy Osorio, Marcel Crest, David Brown, Jing Zhou

David C. Brown

Mutations in either polycystin-2 (PC2) or polycystin-1 (PC1) proteins cause severe, potentially lethal, kidney disorders and multiple extrarenal (including brain) disease phenotypes. PC2, a member of the transient receptor potential channel superfamily, and PC1, an orphan membrane receptor of largely unknown function, are thought to be part of a common signaling pathway. Here, we show that in rat sympathetic neurons and kidney cells, coassembly of full-length PC1 with PC2 forms a plasmalemmal ion channel signaling complex in which PC1 stimulation simultaneously activates PC2 ion channels and G(i/o)-proteins. PC2 activation occurs through a structural rearrangement of PC1, independent of G-protein activation. …

Detection Of Diabetic Foot Ulcers Using Svm Based Classification, Lei Wang, Peder Pedersen, Diane Strong, Bengisu Tulu, Emmanuel Agu, Qian He, Ronald Ignotz, Raymond Dunn, David Harlan, Sherry Pagoto

Emmanuel O. Agu

Diabetic foot ulcers represent a significant health issue, for both patients’ quality of life and healthcare system costs. Currently, wound care is mainly based on visual assessment of wound size, which suffers from lack of accuracy and consistency. Hence, a more quantitative and computer-based method is needed. Supervised machine learning based object recognition is an attractive option, using training sample images with boundaries labeled by experienced clinicians. We use forty sample images collected from the UMASS Wound Clinic by tracking 8 subjects over 6 months with a smartphone camera. To maintain a consistent imaging environment and facilitate the capture process …

Metastatic Brain Tumors: Current Therapeutic Options And Historical Perspective, Mark Rivkin, Richard Kanoff

Mark Rivkin

Metastatic brain tumors affect more than 150,000 patients annually in the United States. The therapeutic paradigms for these tumors have evolved over the years and currently encompass numerous modalities implemented by treating physicians across several medical disciplines. The armamentarium of brain tumor treatment involves neurosurgical intervention, whole-brain and focused radiation modalities, chemotherapy, and immunotherapy. Patient selection, however, remains critical to achieve maximal therapeutic benefit and depends on functional status, number and location of lesions, and tissue histologic findings. Best outcomes can be expected with a multidisciplinary approach to patient care where state-of-the-art treatment options are readily available.

Disease Will Limit Future Food Supply From The Global Crustacean Fishery And Aquaculture Sectors, G. Stentiford, D. Neil, E. Peeler, J. Shields, H. Small, T. Flegel, J. Vlak, B. Jones, F. Morado, S. Moss, J. Lotz, Lyric Bartholomay, D. Behringer, C. Hauton, D. Lightner

Lyric Bartholomay

Seafood is a highly traded food commodity. Farmed and captured crustaceans contribute a significant proportion with annual production exceeding 10 M metric tonnes with first sale value of $40bn. The sector is dominated by farmed tropical marine shrimp, the fastest growing sector of the global aquaculture industry. It is significant in supporting rural livelihoods and alleviating poverty in producing nations within Asia and Latin America while forming an increasing contribution to aquatic food supply in more developed countries. Nations with marine borders often also support important marine fisheries for crustaceans that are regionally traded as live animals and commodity products. …

Study Of Potential Risk Of Dengue Disease Outbreak In Sri Lanka Using Gis And Statistical Modelling, Sumith Pathirana, Masato Kawabata, Rohitha Goonatilake

Adjunct Associate Professor Sumith Pathirana

The increasing incidence of dengue fever has become a priority health issue for Sri Lanka. Recent dengue outbreaks in Sri Lanka show two trends: yearly increase of total number of dengue incidence and increasing dengue outbreaks outside the endemic urbanised areas in the south and the west. Identification of factors responsible for dengue outbreaks and the mapping of potential risk areas in Sri Lanka are long overdue. This study examines the association between weekly rainfall patterns and dengue outbreaks in the western province between 2000 and 2004. Methods: The study develops a model to quantitatively assess the relationship between rainfall …

Erbeta Regulation Of Nf-Kb Activation In Prostate Cancer Is Mediated By Hif-1, Paul Mak, Jiarong Li, Sanjoy Samanta, Arthur M. Mercurio

Arthur M. Mercurio

We examined the regulation of NF-kappaB in prostate cancer by estrogen receptor beta (ERbeta) based on the inverse correlation between p65 and ERbeta expression that exists in prostate carcinomas and reports that ERbeta can inhibit NF-kappaB activation, although the mechanism is not known. We demonstrate that ERbeta functions as a gate-keeper for NF-kappaB p65 signaling by repressing its expression and nuclear translocation. ERbeta regulation of NF-kappaB signaling is mediated by HIF-1. Loss of ERbeta or hypoxia stabilizes HIF-1alpha, which we found to be a direct driver of IKKbeta transcription through a hypoxia response element present in the promoter of the …

Emergency Medical Services Transport Delays For Suspected Stroke And Myocardial Infarction Patients, Ashley Pedigo Golden, Agricola Odoi

Agricola Odoi

Background: Prehospital delays in receiving emergency care for suspected stroke and myocardial infarction (MI) patients have significant impacts on health outcomes. Use of Emergency Medical Services (EMS) has been shown to reduce these delays. However, disparities in EMS transport delays are thought to exist. Therefore the objective of this study was to investigate and identify disparities in EMS transport times for suspected stroke and MI patients. Methods: Over 3,900 records of suspected stroke and MI patients, reported during 2006–2009, were obtained from two EMS agencies (EMS 1 & EMS 2) in Tennessee. Summary statistics of transport time intervals were computed. …

Biography, Julie Elaine N. Irish

Julie Elaine Irish

Perceiving One's Heart Condition To Be Cured Following Hospitalization For Acute Coronary Syndromes: Implications For Patient-Provider Communication, Molly Waring, David Mcmanus, Stephenie Lemon, Joel Gore, Milena Anatchkova, Richard Mcmanus, Arlene Ash, Robert Goldberg, Catarina Kiefe, Jane Saczynski

Richard H. McManus

OBJECTIVE: We examined the proportion of patients perceiving their heart condition to be cured following hospitalization for ACS and identified characteristics associated with these perceptions.

METHODS: We conducted a prospective cohort study of adults hospitalized with ACS (N=396). Patient interviews during hospitalization and one week post-discharge provided demographic and psychosocial characteristics. Medical records provided clinical characteristics. At one week, patients who rated "My heart condition is cured" as "definitely true" or "mostly true" were considered to perceive their heart condition cured.

RESULTS: Participants were aged 60.7 (SD:11.0) years, 26.5% female, and 89.0% non-Hispanic white; 16.7% had unstable angina, 59.6% NSTEMI, …

Targeting Dusps In Glioblastomas–Wielding A Double‐Edged Sword, Sheila Abraham, Swapna Asuthkar, William Lee, Srinivasulu Chigurupat, Andrew Tsung, Kiran Kiran

Sheila Prabhakar Abraham

Several dual-specificity phosphatases (DUSPs) that play key roles in the direct or indirect inactivation of different MAP kinases (MAPKs) have been implicated in human cancers over the past decade. This has led to a growing interest in identifying DUSPs and their specific inhibitors for further testing and validation as therapeutic targets in human cancers. However, the lack of understanding of the complex regulatory mechanisms and cross-talks between MAPK signaling pathways, combined with the fact that DUSPs can act as a double-edged sword in cancer progression, calls for a more careful and thorough investigation. Among the various types of brain cancer, …

Alkali Therapy In Lactic Acidosis, Zeid J. Khitan, Md, Deepak Malhotra, Md, Dominic S. Raj, Md, Antonios H. Tzamaloukas, Md, Joseph I. Shapiro, Md

Zeid J. Khitan

This report attempts to frame the debate about clinical administration of sodium bicarbonate in the setting of lactic acidosis in terms of simple questions. Specifically, we address why we develop lactic acidosis in some circumstances, how acute lactic acidosis impairs cardiovascular function and why sodium bicarbonate may have deleterious effects which limit its utility. We also attempt to explore treatment alternatives to sodium bicarbonate.

Prescribing Patterns Of Metformin In High-Risk Patients With Prediabetes, Daniel Stirling, Ifeanyi Onor, Daniel Sarpong, Kristi Isaac Rapp, Lori Crawford

Ifeanyi Onor, PharmD, BCPS

Working Therapeutically With Deaf People Recovering From Trauma And Addiction, Melissa Anderson, Neil Glickman, Lisa Mistler, Marco Gonzalez

Melissa L. Anderson

OBJECTIVE: This article reviews what is known about behavioral health treatment of deaf persons with comorbid trauma and addiction.

METHOD: We discuss how to work therapeutically with deaf people with comorbid trauma and addiction, both through a review of the literature and through clinical observations of the authors. The article also includes the personal stories of two people-a Deaf peer specialist and a hearing psychiatrist-who share their humbling stories about the recovery process for deaf people and the challenges of learning to become an effective Deaf mental health care provider.

FINDINGS: Deaf people report higher rates of mental health problems …

Feasibility And Compliance With Daily Home Ecg Monitoring Of The Qt Interval In Heart Transplant Recipients, Erik V. Carter, Kathleen T. Hickey, David M. Pickham, Lynn V. Doering, Belinda Chen, Patricia Harris, Barbara J. Drew

Patricia Harris

Background: Recent evidence suggests that acute allograft rejection after heart transplantation causes an increased QT interval on electrocardiogram (ECG). The aims of this pilot study were to (1) determine whether heart transplant recipients could achieve compliance in transmitting a 30-second ECG every day for 1 month using a simple ECG device and their home telephone, (2) evaluate the ease of device use and acceptability by transplant recipients, and (3) evaluate the quality of transmitted ECG tracings for QT-interval measurement. Methods: A convenience sample of adult heart transplant recipients were recruited and trained to use the device (HeartOne, Aerotel Medical Systems, …

Prognostic Value Of Heart Rate Turbulence For Risk Assessment In Patients With Unstable Angina And Non-St Elevation Myocardial Infarction, Patricia R.E. Harris, Phyllis K. Stein, Gordon L. Fung, Barbara J. Drew

Patricia Harris

Background: We sought to examine the prognostic value of heart rate turbulence derived from electrocardiographic recordings initiated in the emergency department for patients with non-ST elevation myocardial infarction (NSTEMI) or unstable angina. Methods: Twenty-four-hour Holter recordings were started in patients with cardiac symptoms approximately 45 minutes after arrival in the emergency department. Patients subsequently diagnosed with NSTEMI or unstable angina who had recordings with ≥18 hours of sinus rhythm and sufficient data to compute Thrombolysis In Myocardial Infarction (TIMI) risk scores were chosen for analysis (n = 166). Endpoints were emergent re-entry to the cardiac emergency department and/or death at …

Heart Rate Variability Measured Early In Patients With Evolving Acute Coronary Syndrome And 1-Year Outcomes Of Rehospitalization And Mortality, Patricia R.E. Harris, Phyllis K. Stein, Gordon L. Fung, Barbara J. Drew

Patricia Harris

Objective: This study sought to examine the prognostic value of heart rate variability (HRV) measurement initiated immediately after emergency department presentation for patients with acute coronary syndrome (ACS). Background: Altered HRV has been associated with adverse outcomes in heart disease, but the value of HRV measured during the earliest phases of ACS related to risk of 1-year rehospitalization and death has not been established. Methods: Twenty-four-hour Holter recordings of 279 patients with ACS were initiated within 45 minutes of emergency department arrival; recordings with �18 hours of sinus rhythm were selected for HRV analysis (number [N] �193). Time domain, frequency …

Type I Diabetes In Children And Vitamin D, Ashley B. Litchfield, Rebecca M. Hayes, Franklin D. Shuler Md, Phd, Susan L. Flesher Md

Franklin D. Shuler

Vitamin D deficiency is associated with multiple childhood diseases including type 1 diabetes mellitus (T1DM). T1DM in children is becoming more prevalent, with a 23% increase nationally from 2001 to 2009. Similarly, West Virginia has had an 8.1% increase in children with type 1Diabetes from 2008/2009 to 2010/2011. This article highlights the association between vitamin D and type 1 diabetes and discusses vitamin D’s potential role in the reduction and management of T1DM in children.

Data From: The Cardiovascular Effects Of Adjunctive Metformin Therapy In Overweight/Obese Youth With Type 1 Diabetes: A Randomized, Double-Blind, Placebo-Controlled Trial, Benjamin U. Nwosu, Louise S. Maranda, Karen Cullen, Lisa Greenman, Jody Fleshman, Nancy Mcshea, Bruce A. Barton, Mary M. Lee

Benjamin U. Nwosu

This dataset is the primary data source for a manuscript submitted for publication. Manuscript abstract: Context: The cardiovascular effect of adjunctive metformin therapy in overweight/obese youth with type 1 diabetes (T1D) is unknown. Objective: To compare the effect of prolonged, adjunctive metformin vs. placebo therapy on markers of cardiovascular risk in overweight/obese youth with T1D based on differences in total cholesterol (TC)/ high-density lipoprotein (HDL) ratio, triglycerides (TG)/HDL ratio, Atherogenic Index of Plasma (AIP) log [TG/HDL] ratio, adiponectin/leptin ratio, and 25-hydroxyvitamin D [25(OH)D] concentration. Hypothesis: Adjunctive metformin therapy will improve markers of cardiovascular health in overweight/obese youth with T1D. Setting: …

Data From: The Cardiovascular Effects Of Adjunctive Metformin Therapy In Overweight/Obese Youth With Type 1 Diabetes: A Randomized, Double-Blind, Placebo-Controlled Trial, Benjamin U. Nwosu, Louise S. Maranda, Karen Cullen, Lisa Greenman, Jody Fleshman, Nancy Mcshea, Bruce A. Barton, Mary M. Lee

Benjamin U. Nwosu

This dataset is the primary data source for a manuscript submitted for publication. Manuscript abstract: Context: The cardiovascular effect of adjunctive metformin therapy in overweight/obese youth with type 1 diabetes (T1D) is unknown. Objective: To compare the effect of prolonged, adjunctive metformin vs. placebo therapy on markers of cardiovascular risk in overweight/obese youth with T1D based on differences in total cholesterol (TC)/ high-density lipoprotein (HDL) ratio, triglycerides (TG)/HDL ratio, Atherogenic Index of Plasma (AIP) log [TG/HDL] ratio, adiponectin/leptin ratio, and 25-hydroxyvitamin D [25(OH)D] concentration. Hypothesis: Adjunctive metformin therapy will improve markers of cardiovascular health in overweight/obese youth with T1D. Setting: …