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Evan's syndrome

Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay, Timur Tuncalı
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst...
March 16, 2018: Cytogenetic and Genome Research
Muharrem Yunce, Ashwyn Sharma, Evan Braunstein, Michael B Streiff, Ying Wei Lum
RATIONALE: Thoracic outlet syndrome (TOS) is a rare cause of upper extremity deep vein thrombosis (UEDVT). The treatment usually involves catheter directed thrombolysis followed by systemic anticoagulation. Surgical decompression is frequently recommended after anticoagulation for definitive therapy. PATIENT CONCERNS: We report two cases of UEDVT secondary to venous TOS with important clinical presentations. DIAGNOSES: Venous TOS. INTERVENTIONS: One patient was initially treated conservatively but had a recurrent UEDVT...
March 2018: Medicine (Baltimore)
Aaron Lear, Merritt Huber, Amy Canada, Jessica Robertson, Evan Bosman, Stephen Zyzanski
OBJECTIVE: To determine whether admission, and provocative stress testing of patients who have ruled out for acute coronary syndrome put patients with low-risk category for coronary artery disease (CAD) at risk for false-positive provocative stress testing and unnecessary coronary angiogram/imaging. METHODS: A retrospective chart review was performed on patients between 30 and 70 years old, with no pre-existing diagnosis of CAD, admitted to observation or inpatient status chest pain or related complaints...
March 2018: Journal of the American Board of Family Medicine: JABFM
Panagiota Zikidou, Anastassia Grapsa, Zoe Bezirgiannidou, Athanassios Chatzimichael, Elpis Mantadakis
Background: Human parvovirus B19 (HPV-B19) is the etiologic agent of erythema infectiosum, of transient aplastic crises in individuals with underlying chronic hemolytic disorders, and of chronic pure red cell aplasia in immunocompromised individuals. Case report: We describe a 14-year-old girl with long-standing Evans syndrome, who presented with severe anemia, reticulocytopenia and thrombocytopenia. A bone marrow aspirate revealed severe erythroid hypoplasia along with the presence of giant pronormoblasts, while serological studies and real-time PCR of whole blood were positive for acute parvovirus B19 infection...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Maura Massimino, Douglas B Evans, Marta Podda, Claudio Spinelli, Paola Collini, Natalia Pizzi, Archie Bleyer
In adolescents and young adults, thyroid cancer accounts for 13% of all invasive neoplasms, being three times more frequent in females, but overdiagnosis and overtreatment are common. There are two therapeutic approaches, one radical and no longer preferred in all instances, and the other conservative. Permanent complications of surgery and metabolic irradiation can affect quality of life and carry an economic burden. The overall survival rate approaches 100% for patients with differentiated thyroid cancer regardless of the extent of treatment...
March 12, 2018: Pediatric Blood & Cancer
Limin Xing, Wenyan Xu, Yingying Qu, Manjun Zhao, Hongli Zhu, Hong Liu, Huaquan Wang, Xin Su, Zonghong Shao
The objective of the study was to study the regulation of B lymphocytes in patients with autoimmune hemolytic anemia (AIHA)/Evans syndrome. From October 2015 to May 2016, 35 patients with AIHA/Evans in the Department of Hematology, Tianjin Medical University General Hospital were enrolled into this study. c-Myb mRNA and miR-150 expression in B lymphocytes were measured using real-time PCR (RT-PCR). Correlation between c-Myb and miR-150 and clinical parameters in patients with AIHA/Evans were analyzed. c-Myb mRNA expression in hemolysis patients was significantly higher than in remission patients and CLL patients, negatively correlated with hemoglobin (Hb) level and complement 3(C3) levels, and positively correlated with total bilirubin (TBIL) concentration and indirect bilirubin (IBIL) concentration...
February 27, 2018: International Journal of Hematology
Stavros Stivaros, Shruti Garg, Maria Tziraki, Ying Cai, Owen Thomas, Joseph Mellor, Andrew A Morris, Carly Jim, Karolina Szumanska-Ryt, Laura M Parkes, Hamied A Haroon, Daniela Montaldi, Nicholas Webb, John Keane, Francisco X Castellanos, Alcino J Silva, Sue Huson, Stephen Williams, D Gareth Evans, Richard Emsley, Jonathan Green
Background: Neurofibromatosis 1 (NF1) is a monogenic model for syndromic autism. Statins rescue the social and cognitive phenotype in animal knockout models, but translational trials with subjects > 8 years using cognition/behaviour outcomes have shown mixed results. This trial breaks new ground by studying statin effects for the first time in younger children with NF1 and co-morbid autism and by using multiparametric imaging outcomes. Methods: A single-site triple-blind RCT of simvastatin vs...
2018: Molecular Autism
D Gareth Evans, Emma Woodward, Elaine F Harkness, Anthony Howell, Inga Plaskocinska, Eamonn R Maher, Marc D Tischkowitz, Fiona Lalloo
PURPOSE: The identification of BRCA1 , BRCA2 or mismatch repair (MMR) pathogenic gene variants in familial breast/ovarian/colorectal cancer families facilitates predictive genetic testing of at-risk relatives. However, controversy still exists regarding overall lifetime risks of cancer in individuals testing positive. METHODS: We assessed the penetrance of BRCA1 , BRCA2, MLH1 and MSH2 mutations in men and women using Bayesian calculations based on ratios of positive to negative presymptomatic testing by 10-year age cohorts...
February 26, 2018: Journal of Medical Genetics
Winston Y Lee, Olga K Weinberg, Andrew G Evans, Geraldine S Pinkus
Objectives: Myeloid proliferative disorders associated with Down syndrome (MPD-DS), including transient abnormal myelopoiesis and myeloid leukemia associated with Down syndrome (DS), harbor mutations of GATA1, a transcription factor essential for erythroid and megakaryocytic development. These mutations result in a N-terminally truncated GATA1 (GATA1s) and prohibit the production of the full-length GATA1 (GATA1f). Here, we demonstrate the utility of immunohistochemical GATA1f reactivity in diagnosing MPD-DS...
March 7, 2018: American Journal of Clinical Pathology
Parvez M Lokhandwala, Maryam Shabihkhani, Paul M Ness, Evan M Bloch
Hyperviscosity syndrome (HVS) is most commonly associated with Waldenstrom's macroglobulinemia, where it may be life-threatening. HVS may also occur in autoimmune diseases; data pertaining to efficacy of therapeutic plasma exchange (TPE) in HVS arising in non-malignant gammopathy are limited. We report a case of 71-year-old female with erosive rheumatoid arthritis with profoundly elevated rheumatoid factor (57,400 IU/ml; normal <35) who presented with findings consistent with HVS: profound weakness, headache, epistaxis and plasma viscosity (8...
February 15, 2018: Transfusion and Apheresis Science
Steven Brooks, Kayla Branyan, Evan DeVallance, Roy Skinner, Kent Lemaster, J Whitney Sheets, Christopher R Pitzer, Shinichi Asano, Randall Bryner, I Mark Olfert, Jefferson C Frisbee, Paul D Chantler
Chronic unresolvable stress leads to the development of depression and cardiovascular disease (CVD). There is a high prevalence of depression with the metabolic syndrome (MetS), however, to what extent the MetS concurrent with psychological stress affects cerebrovascular function is unknown. We investigated the differential effect of MetS on cerebrovascular structure/function in rats (16-17-wk-old) following 8 wk of unpredictable chronic mild stress (UCMS), and whether exercise training could limit any cerebrovascular dysfunction...
February 13, 2018: Experimental Physiology
Wioleta M Zelek, Lewis M Watkins, Owain W Howell, Rhian Evans, Sam Loveless, Neil P Robertson, Marijke Beenes, Loek Willems, Ricardo Brandwijk, B Paul Morgan
BACKGROUND: CD59, a broadly expressed glycosylphosphatidylinositol-anchored protein, is the principal cell inhibitor of complement membrane attack on cells. In the demyelinating disorders, multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD), elevated complement protein levels, including soluble CD59 (sCD59), were reported in cerebrospinal fluid (CSF). OBJECTIVES: We compared sCD59 levels in CSF and matched plasma in controls and patients with MS, NMOSD and clinically isolated syndrome (CIS) and investigated the source of CSF sCD59 and whether it was microparticle associated...
February 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Eric C Ford, Suzanne Evans
Incident learning is a key component for maintaining safety and quality in healthcare. Its use is well-established and supported by professional society recommendations, regulations and accreditation, and objective evidence. There is an active interest in incident learning systems (ILS) in radiation oncology, with over forty publications since 2010. This article is intended as a comprehensive topic review of ILS in radiation oncology, including: history and summary of existing literature, nomenclature and categorization schemas, operational aspects of ILS at the institutional level including event handling and root-cause analysis, and national and international ILS for shared learning...
February 8, 2018: Medical Physics
Randolph W Evans, Kamalika Ghosh
BACKGROUND AND OBJECTIVES: Postconcussion syndrome (PCS) has been controversial for more than 150 years. As there have not been any surveys of PCS among neurologists in the United States since 1992, another was performed using most of the prior items to assess current opinions and practices and whether there have been any changes since 1992. METHODS: Two hundred and eighty-nine neurologists attending the Texas Neurological Society 20th Annual Winter Conference continuing medical education meeting in 2017 were supplied the survey instrument with registration materials...
February 7, 2018: Headache
Sandeep Hedgire, Vinit Baliyan, Evan J Zucker, Daniel O Bittner, Pedro Staziaki, Richard A P Takx, Jan-Erik Scholtz, Nandini Meyersohn, Udo Hoffmann, Brian Ghoshhajra
Purpose To evaluate the frequency and implications of perivascular fat stranding on coronary computed tomography (CT) angiograms obtained for suspected acute coronary syndrome (ACS). Materials and Methods This retrospective registry study was approved by the institutional review board. The authors reviewed the medical records and images of 1403 consecutive patients (796 men, 607 women; mean age, 52.8 years) who underwent coronary CT angiography at the emergency department from February 2012 to March 2016. Fat attenuation, length and number of circumferential quadrants of the affected segment, and attenuation values in the unaffected epicardial and subcutaneous fat were measured...
February 5, 2018: Radiology
Jane Ziegler, Evan Spivack
BACKGROUND: People with intellectual and developmental disabilities are among the most disadvantaged and underserved groups of dental patients. Considerable health care disparities for this population have been identified, particularly oral and dental health as well as access to dental care services. People with Down syndrome and cerebral palsy have a variety of nutritional and dental considerations. CONCLUSIONS: These people have a higher prevalence of untreated caries and periodontal disease than the general population and may have higher rates of obesity, edentulism, and chronic oral and systemic diseases...
February 1, 2018: Journal of the American Dental Association
Benjamin S Robey, Anne F Peery, Evan S Dellon
Marfan syndrome is an autosomal dominant disorder involving mutation in the FBN1 gene, which encodes fibrillin-1, a protein critical to maintain the integrity of connective tissue. A mutation in this gene can affect multiple organ systems, but it is not classically associated with gastrointestinal complications. We describe a man with Marfan syndrome with multiple small bowel diverticula leading to small intestinal bacterial overgrowth and recurrent small bowel perforations.
2018: ACG Case Reports Journal
Olivia Alejandra Flores-Montes, Martha Cecilia Escobar-Orduño, Mónica Lozano-Garcidueñas, Jaime Guadalupe Valle-Leal
BACKGROUND: Evans syndrome is characterized by the reduction of at least two blood cell lineages in the absence of other diagnoses; it was previously described as the simultaneous or sequential development of autoimmune hemolytic anemia and immune thrombocytopenia with unknown etiology. An incidence of 37% and mortality rate of 10% were reported for Evans syndrome. CLINICAL CASES: We report the clinical presentation and evolution of Evans syndrome in two infants who were initially diagnosed with immune thrombocytopenia...
March 2017: Boletín Médico del Hospital Infantil de México
Evan P Pasha, Alex C Birdsill, Stephanie Oleson, Andreana P Haley, Hirofumi Tanaka
Metabolic syndrome (MetS) adversely affects the vasculature and cerebral white matter (CWM) integrity. Arterial stiffening has been associated with diminished CWM integrity. Physical activity (PA) can ameliorate components of MetS and subsequently affect arterial stiffening and CWM integrity. Our aim was to determine the role of PA on mitigating the adverse influence of MetS on arterial stiffness and CWM integrity. In a cross-sectional study design, sixty-six middle-aged adults (40-62 years) composed of 18 sedentary MetS (Sed MetS), 21 physically active MetS (Active MetS), and 27 healthy individuals absent of MetS risk factors were studied...
January 26, 2018: Brain Imaging and Behavior
Evan DeVallance, Kayla W Branyan, Kent Lemaster, I Mark Olfert, David M Smith, Emidio E Pistilli, Jefferson C Frisbee, Paul D Chantler
AIMS: Perivascular adipose tissue (PVAT) is recognized for its vaso-active effects, however it's unclear how Metabolic Syndrome impact thoracic-aorta (t)PVAT and the subsequent effect on functional and structural aortic stiffness. METHODS & RESULTS: Thoracic aorta and tPVAT were removed from 16-17 week old lean (LZR, n = 16) and obese Zucker (OZR, n = 16) rats. OZR presented with aortic endothelial dysfunction, assessed by wire-myography, and increased aortic stiffness, assessed by elastic modulus...
January 18, 2018: Experimental Physiology
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