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potter syndrome

Julia M Potter, Aaron J Simpson, Jennifer Kerrigan, Emma Southcott, Marie M Salib, Gus Koerbin, Peter E Hickman
OBJECTIVES: Cardiac troponins are specific for the heart, but not for the acute coronary syndrome. We wanted to assess how common elevated cardiac troponin concentrations were, in a population with significant non-cardiac disease. DESIGN & METHODS: We measured both hs-cTnT and hs-cTnI on all samples submitted to the laboratory during one 24h period, and assessed the magnitude of the cTn concentration with the location and severity of disease of the patient. RESULTS: Community patients and patients from the maternity ward had the lowest cTn concentrations with results above the 99th percentile being only 0-2% of the total...
October 22, 2016: Clinical Biochemistry
Alicia Pitrella, Andrés Domínguez, Walter Camus, Maximiliano Nocetti, Iván Boroni
No abstract text is available yet for this article.
2016: Medicina
J Reinder D Reuvers, Martijn van Dorp, Paul E Van Schil
Doege-Potter syndrome is a paraneoplastic syndrome characterized by tumor-associated hypoglycemia secondary to a solitary fibrous tumor of the pleura. We present a case of an 84-year-old man, who presented with acute mental confusion and therapy-resistant hypoglycemia. Diagnostic imaging revealed a large sharply defined pleural tumor based on the left diaphragm, after surgical resection the diagnosis was made of a malignant solitary fibrous tumor of the pleura and restoration of the glucose homeostasis was observed...
July 4, 2016: Acta Chirurgica Belgica
Victoria T Potter, Simona Iacobelli, Anja van Biezen, Johann Maertens, Jean-Henri Bourhis, Jakob R Passweg, Ibrahim Yakhoub-Agha, Reza Tabrizi, Jacques-Olivier Bay, Patrice Chevallier, Yves Chalandon, Anne Huynh, Jean Yves Cahn, Per Ljungman, Charles Craddock, Stig Lenhoff, N H Russell, Nathalie Fegueux, Gerard Socié, Bruno Benedetto, Ellen Meijer, G J Mufti, Theo de Witte, Marie Robin, Nicolaus Kröger
The European Society for Blood and Marrow Transplant Research data set was used to retrospectively analyze the outcomes of hypomethylating therapy (HMA) compared with those of conventional chemotherapy (CC) before hematopoietic stem cell transplantation (HSCT) in 209 patients with advanced myelodysplastic syndromes. Median follow-up was 22.1 months and the median age of the group was 57.6 years with 37% of the population older than > 60 years. The majority of patients (59%) received reduced-intensity conditioning and 34% and 27% had intermediate-2 and high international prognostic scoring system (IPSS) scores...
September 2016: Biology of Blood and Marrow Transplantation
Nicole Thompson, Bobbe Mansfield, Meredith Stringer, Brandy Stewart, Jami Potter, Karen Fernengel
PURPOSE: Overweight and obesity in children and adolescents is often accompanied by obesity-related comorbidities. An integrative review of the literature was performed to create a comprehensive algorithm to help primary care providers manage the common comorbidities associated with childhood overweight and obesity. DATA SOURCES: The Cumulative Index to Nursing and Allied Health Literature, ProQuest Nursing and Allied Health Source, and PubMed databases were searched...
October 2016: Journal of the American Association of Nurse Practitioners
Anthony R Isles, Andrés Ingason, Chelsea Lowther, James Walters, Micha Gawlick, Gerald Stöber, Elliott Rees, Joanna Martin, Rosie B Little, Harry Potter, Lyudmila Georgieva, Lucilla Pizzo, Norio Ozaki, Branko Aleksic, Itaru Kushima, Masashi Ikeda, Nakao Iwata, Douglas F Levinson, Pablo V Gejman, Jianxin Shi, Alan R Sanders, Jubao Duan, Joseph Willis, Sanjay Sisodiya, Gregory Costain, Thomas M Werge, Franziska Degenhardt, Ina Giegling, Dan Rujescu, Stefan J Hreidarsson, Evald Saemundsen, Joo Wook Ahn, Caroline Ogilvie, Santhosh D Girirajan, Hreinn Stefansson, Kari Stefansson, Michael C O'Donovan, Michael J Owen, Anne Bassett, George Kirov
Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11...
May 2016: PLoS Genetics
Andreia Latanza Gomes Mathez, Debora Moroto, Sergio Atala Dib, Joao Roberto de Sa
A rare sign of some malignant tumors is a sudden eruption of multiple seborrheic keratoses called Leser-Trélat sign. Overproduction of insulin-like growth factor-2 (IGF2) or its precursor is the main mechanism related to non-islet cell tumor hypoglycemia. Doege-Potter syndrome is the name given to paraneoplastic hypoinsulinemic hypoglycemia in presence of a solitary fibrous tumor. This report describes a case of a patient with hypoinsulinemic hypoglycemia and Leser-Trélat sign associated with a malignant solitary fibrous tumor with IGF2 secretion...
2016: Diabetology & Metabolic Syndrome
Buddhika T B Wijerathne, Robert J Meier, Sujatha S Salgado, Suneth B Agampodi
Kidney diseases are becoming a major cause of global burden with high mortality and morbidity. The origins of most kidney diseases are known, but for some the exact aetiology is not yet understood. Dermatoglyphics is the scientific study of epidermal ridge patterns and it has been used as a non-invasive diagnostic tool to detect or predict different medical conditions that have foetal origin. However, there have been a limited number of studies that have evaluated a dermatoglyphic relationship in different kidney diseases...
2016: SpringerPlus
Rowena Chau, Seyedeh Ghazaleh Dashti, Driss Ait Ouakrim, Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Ingrid M Winship, Joanne P Young, Graham G Giles, Finlay A Macrae, Alex Boussioutas, Susan Parry, Jane C Figueiredo, A Joan Levine, Dennis J Ahnen, Graham Casey, Robert W Haile, Steven Gallinger, Loïc Le Marchand, Stephen N Thibodeau, Noralane M Lindor, Polly A Newcomb, John D Potter, John A Baron, John L Hopper, Mark A Jenkins, Aung Ko Win
BACKGROUND: People with a DNA mismatch repair (MMR) gene mutation have a substantially elevated risk of colorectal cancer (CRC) but the modifiers of this risk are not well established. We investigated the association between dietary supplement intake and CRC risk for carriers. METHODS: This study included 1966 (56% female) carriers of an MMR gene mutation (719 MLH1, 931 MSH2, 211 MSH6 and 105 PMS2) who were recruited from the USA, Canada, Australia and New Zealand into the Colon Cancer Family Registry between 1997 and 2012...
June 2016: International Journal of Epidemiology
M-J De Potter, T Edouard, R Amadieu, J Plaisancié, S Julia, K Hadeed, S Hascoët, P Acar, Y Dulac
Loeys-Dietz syndrome is a rare form of connective tissue disorder, whose clinical features can resemble those of Marfan syndrome, but with a more unpolished appearance. Recently brought out, this pathology remains little known; however, its consequences may be dramatic. We report on the case of a 4-year-old girl followed for a congenital hip dislocation, in which a systematic exam found increased cutaneous elasticity and a bifid uvula, suggesting a connective tissue disorder. Symptoms were unpolished, as the child's height was normal, without any positive cardiac, rheumatological, or ophthalmological family history...
May 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Jimena Soutelo, Sofía Moldes, Ayelén Martin, Rubén Lutfi, Mariela Leal Reyna
We report the case of a 75-year-old man who was admitted to the hospital with symptoms of severe hypoglycemia. He had a history of solitary fibrous tumor diagnosed by Pathology after its complete surgical resection eight years before. The laboratory examination reported hypoglycemia with inhibited Insulin secretion. A computed tomography of the thorax revealed a large solid heterogeneous mass in the left hemithorax. Solitary fibrous tumor is a rare neoplasm. The association of solitary fibrous tumor and paraneoplastic hypoglycemia is known as Doege-Potter syndrome and occurs in less than 5% of all solitary fibrous tumors...
January 2016: Revista Médica de Chile
Noor Janjua, Mohammed Bajalan, Samantha Potter, Andrea Whitney, Fabian Sipaul
A 10-year-old girl presented with signs and symptoms suggestive of Gradenigo's syndrome, a condition characterised by otorrhoea, diplopia due to abducens nerve palsy and pain in the region of the trigeminal nerve. This case examines the presentation of this condition, and the appropriate investigations. We also highlight the importance of the involvement of multiple specialities in discussing and devising a suitable management plan.
2016: BMJ Case Reports
Catherine J Vladutiu, Anna Maria Siega-Riz, Daniela Sotres-Alvarez, Alison M Stuebe, Andy Ni, Karen M Tabb, Linda C Gallo, JoNell E Potter, Gerardo Heiss
BACKGROUND: Physiological adaptations occurring across successive pregnancies may increase the risk of adverse cardiovascular health outcomes in later life. METHODS AND RESULTS: The association between parity and metabolic syndrome was examined among 7467 Hispanic/Latina women of diverse backgrounds, aged 18 to 74 years, who participated in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) from 2008 to 2011. Metabolic syndrome components were defined according to American Heart Association/National Heart, Lung, and Blood Institute criteria and included abdominal obesity, elevated triglycerides, low high-density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose...
February 2016: Circulation. Cardiovascular Quality and Outcomes
Christophe Rosty, Mark Clendenning, Michael D Walsh, Stine V Eriksen, Melissa C Southey, Ingrid M Winship, Finlay A Macrae, Alex Boussioutas, Nicola K Poplawski, Susan Parry, Julie Arnold, Joanne P Young, Graham Casey, Robert W Haile, Steven Gallinger, Loïc Le Marchand, Polly A Newcomb, John D Potter, Melissa DeRycke, Noralane M Lindor, Stephen N Thibodeau, John A Baron, Aung Ko Win, John L Hopper, Mark A Jenkins, Daniel D Buchanan
OBJECTIVES: Immunohistochemistry for DNA mismatch repair proteins is used to screen for Lynch syndrome in individuals with colorectal carcinoma (CRC). Although solitary loss of PMS2 expression is indicative of carrying a germline mutation in PMS2, previous studies reported MLH1 mutation in some cases. We determined the prevalence of MLH1 germline mutations in a large cohort of individuals with a CRC demonstrating solitary loss of PMS2 expression. DESIGN: This cohort study included 88 individuals affected with a PMS2-deficient CRC from the Colon Cancer Family Registry Cohort...
2016: BMJ Open
Maria Tuca, Catherine Hayter, Hollis Potter, Robert Marx, Daniel W Green
PURPOSE: Increasing numbers of children and adolescents are being treated for ACL tears. In order for surgeons to safely optimize treatment during ACL surgery, we must better understand ACL growth and intercondylar notch patterns in the skeletally immature knee. The aim of this study is to measure ACL and intercondylar notch volume in paediatric patients and observe how these volumes change as a function of age and gender. METHODS: Data were extracted from the picture archiving and communication systems (PACS) computer records...
March 2016: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
Nirosshan Thiruchelvam, Gaurav Kistangari, Catherine Listinsky, Hamed Daw, Vikramjeet Kumar
Nonislet cell tumor-induced hypoglycemia (NICTH), also known as Doege-Potter syndrome, is a rare paraneoplastic syndrome seen in association with various nonpancreatic tumors, benign and malignant, and comprising mesenchymal, vascular, or epithelial cell types. We report a case of recurrent life-threatening hypoglycemia from a large pelvic solitary fibrous tumor.
August 2015: Journal of Community and Supportive Oncology
Pallavi Parashar, Sally Preston, Brian Brada, Thomas Borris, Brad Potter
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive overgrowth disorder with prominent craniofacial manifestations. Macrodontia is also an uncommon dental anomaly that can be an isolated finding and has been associated with numerous systemic conditions and syndromes. This case report describes this previously unreported dental anomaly, macrodontia, in a patient with SGBS, which may broaden the phenotype of this syndrome. A brief review of the literature on orofacial findings associated with SGBS is also presented...
January 2016: General Dentistry
Stuart H Chen, Kalon K L Ho, Stephen A Gannon, Braghadheeswar Thyagarajan, Anjan K Chakrabarti, Brian J Potter, Anand Singla, Bryan J Piccirillo, Christopher U Meduri, Donald E Cutlip
OBJECTIVES: The aim of this study was to test the feasibility and value of a real-time online appropriate use criteria (AUC) application for percutaneous coronary intervention (PCI) in patients without acute coronary syndrome. BACKGROUND: High rates of non-appropriate elective PCI in the National Cardiovascular Data Registry (NCDR) CathPCI Registry have created interest in integrating decision support tools into routine clinical care to improve the frequency of appropriate PCIs...
September 2016: Catheterization and Cardiovascular Interventions
Huntington Potter, Antoneta Granic, Julbert Caneus
Trisomy 21 and the consequent extra copy of the amyloid precursor protein (APP) gene and increased beta-amyloid (Aβ) peptide production underlie the universal development of Alzheimer's disease (AD) pathology and high risk of AD dementia in people with Down syndrome (DS). Trisomy 21 and other forms of aneuploidy also arise among neurons and peripheral cells in both sporadic and familial AD and in mouse and cell models thereof, reinforcing the conclusion that AD and DS are two sides of the same coin. The demonstration that 90% of the neurodegeneration in AD can be attributed to the selective loss of aneuploid neurons generated over the course of the disease indicates that aneuploidy is an essential feature of the pathogenic pathway leading to the depletion of neuronal cell populations...
2016: Current Alzheimer Research
Edith A Perez, Ahmad Awada, Joyce O'Shaughnessy, Hope S Rugo, Chris Twelves, Seock-Ah Im, Patricia Gómez-Pardo, Lee S Schwartzberg, Veronique Diéras, Denise A Yardley, David A Potter, Audrey Mailliez, Alvaro Moreno-Aspitia, Jin-Seok Ahn, Carol Zhao, Ute Hoch, Mary Tagliaferri, Alison L Hannah, Javier Cortes
BACKGROUND: New options are needed for patients with heavily pretreated breast cancer. Etirinotecan pegol is a long-acting topoisomerase-I inhibitor that prolongs exposure to, but reduces the toxicity of, SN38 (the active metabolite of irinotecan). We assessed whether etirinotecan pegol is superior to currently available treatments for patients with previously treated, locally recurrent or metastatic breast cancer. METHODS: In this open-label, multicentre, randomised phase 3 study (BEACON; BrEAst Cancer Outcomes with NKTR-102), conducted at 135 sites in 11 countries, patients with locally recurrent or metastatic breast cancer previously treated with an anthracycline, a taxane, and capecitabine (and two to five previous regimens for advanced disease) were randomly assigned (1:1) centrally via an interactive response system to etirinotecan pegol (145 mg/m(2) as a 90-min intravenous infusion every 3 weeks) or single-drug treatment of physician's choice...
November 2015: Lancet Oncology
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