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Venous disorders

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https://www.readbyqxmd.com/read/28337892/idiopathic-intracranial-hypertension-in-a-paediatric-population-a-retrospective-observational-study-on-epidemiology-symptoms-and-treatment
#1
M Barbagallo, G Vitaliti, F Greco, P Pavone, N Matin, G Panta, R Lubrano, R Falsaperla
Idiopathic intracranial hypertension (IIH) is a disorder of unknown origin, which is characterized by elevated intracranial pressure (ICP) without underlying etiological evidence of neurological disease. The purpose of the current study was to evaluate epidemiological features, clinical presentation, diagnostic findings and treatment of sixteen children (7 males and 9 females) with IIH. Medical records of the patients were obtained from the University Paediatric Hospital of Catania, Italy. Clinical features, investigations and treatment approaches were retrieved...
January 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28332379/a-novel-de-novo-pathogenic-variant-in-foxf1-in-a-newborn-with-alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins
#2
Youngeun Ma, Mi Ae Jang, Hye Soo Yoo, So Yoon Ahn, Se In Sung, Yun Sil Chang, Chang Seok Ki, Won Soon Park
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by mutations in FOXF1. Herein, we describe a newborn boy with ACD/MPV carrying a novel pathogenic variant of FOXF1. The patient developed respiratory distress and severe pulmonary hypertension on the first day of life. Despite aggressive cardiorespiratory management, including veno-venous extracorporeal membrane oxygenation, his condition deteriorated rapidly, and he died within the first month of his life...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28329897/maternal-labor-delivery-and-perinatal-outcomes-associated-with-placental-abruption-a-systematic-review
#3
Katheryne L Downes, Katherine L Grantz, Edmond D Shenassa
Objective Risk factors for placental abruption have changed, but there has not been an updated systematic review investigating outcomes. Methods We searched PubMed, EMBASE, Web of Science, SCOPUS, and CINAHL for publications from January 1, 2005 through December 31, 2016. We reviewed English-language publications reporting estimated incidence and/or risk factors for maternal, labor, delivery, and perinatal outcomes associated with abruption. We excluded case studies, conference abstracts, and studies that lacked a referent/comparison group or did not clearly characterize placental abruption...
March 22, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28325649/elemental-analysis-of-serum-and-hair-from-pre-eclamptic-south-african-women
#4
K Maduray, J Moodley, C Soobramoney, R Moodley, T Naicker
Pre-eclampsia is a hypertensive disorder that is associated with adverse maternal and perinatal outcomes. It has been proposed that specific trace and macro elements associated with antioxidant activities may also play a contributory role in aetiology of pre-eclampsia. The aim of this study was to measure the concentrations of thirteen different elements in hair and serum samples from women with a diagnosis of pre-eclampsia and compare them with normotensive controls. Venous blood and pubic hair samples were collected from forty-three pre-eclamptic and twenty-three normotensive pregnant women...
March 9, 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/28303970/transient-desialylation-in-combination-with-a-novel-antithrombin-deficiency-causing-a-severe-and-recurrent-thrombosis-despite-anticoagulation-therapy
#5
Nuria Revilla, María Eugenia de la Morena-Barrio, Antonia Miñano, Raquel López-Gálvez, Mara Toderici, José Padilla, Ángel García-Avello, María Luisa Lozano, Dirk J Lefeber, Javier Corral, Vicente Vicente
An in-depth focused study of specific cases of patients with recurrent thrombosis may help to identify novel circumstances, genetic and acquired factors contributing to the development of this disorder. The aim of this study was to carry out a detailed and sequential analysis of samples from a patient suffering from early and recurrent venous and arterial thrombosis. We performed thrombophilic tests, biochemical, functional, genetic and glycomic analysis of antithrombin and other plasma proteins. The patient carried a new type I antithrombin mutation (p...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28300323/acquired-perforating-dermatosis-clinicopathological-study-of-31-cases-emphasizing-pathogenesis-and-treatment
#6
Ana Julia García-Malinis, Elena Del Valle Sánchez, María Pilar Sánchez-Salas, Elena Del Prado, Carmen Coscojuela, Yolanda Gilaberte
BACKGROUND: Acquired perforating dermatosis (APD) is a rare group of skin disorders of unknown aetiology and pathogenesis, and is associated with several systemic diseases. OBJECTIVE: We review the clinicopathological features, associated systemic diseases, and treatment response in a series of APD patients. METHODS: We conducted a retrospective observational study of all patients histologically diagnosed with APD in Hospital San Jorge (Huesca, Spain) between 2002 and 2014...
March 16, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28297729/the-role-of-abo-blood-type-in-thrombosis-scoring-systems
#7
Massimo Franchini, Giuseppe Marano, Stefania Vaglio, Liviana Catalano, Simonetta Pupella, Giancarlo Maria Liumbruno
In addition to their major role in transfusion medicine, there is increasing evidence that ABO blood group antigens (complex carbohydrate molecules widely expressed on the surface of red blood cells and several other cell types) are implicated in the development of a wide array of pathologic conditions. In particular, intense research has been dedicated over the last 50 years to the study of the association between non-O blood type and the risk of developing cardiovascular disorders. Several pathways have been hypothesized to explain this relationship, the most reasonable implying the influence of the ABO blood group on circulating plasma levels of von Willebrand factor, factor VIII, and several inflammatory cytokines...
March 15, 2017: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/28296647/intra-and-inter-rater-reliability-of-lower-leg-waterplethysmography-bioelectrical-impedance-and-muscle-twitch-force-for-the-use-in-standing-work-evaluation
#8
Rudolf Wall, Oliwia Lips, Robert Seibt, Monika Rieger, Benjamin Steinhilber
OBJECTIVES: Prolonged standing is associated with multiple risk factors for musculoskeletal and venous disorders. Basic understanding of prolonged standing physiology is lacking. We therefore plan to investigate the influence of multiple hours standing on lower limb oedema measured by waterplethysmography (WP) and bioelectrical impedance (BI) and lower leg musle fatigue using muscle twitch force (MTF). In order to interpret our results, test-retest and inter-rater reliability of these measurement methods was evaluated first...
March 15, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28293127/care-pathways-in-thrombosis-management-the-innovate-peer-to-peer-educational-initiative
#9
REVIEW
Raj K Patel
CONTEXT: Anticoagulant options for the management of venous thromboembolism (VTE) now include the non-vitamin K antagonist oral anticoagulants (NOACs). The safe and effective integration of these agents into routine clinical practice within different health care settings presents common challenges. Bayer AG created the INternational Network fOr Venous and Arterial Thrombosis Excellence in practice (INNOVATE) program as a professional education network to foster best practice in thrombosis management in the NOAC era...
2017: Advances in Medical Education and Practice
https://www.readbyqxmd.com/read/28290105/economic-evaluations-of-thrombophilia-screening-prior-to-prescribing-combined-oral-contraceptives-a-systematic-and-critical-review
#10
REVIEW
Erin Vernon, Bridget Hiedemann, Bonnie H Bowie
BACKGROUND: Combined oral contraceptives (COCs) increase the risk of venous thromboembolism (VTE), particularly among women with inherited clotting disorders. The World Health Organization classifies combined hormonal contraception as an "unacceptable health risk" for women with thrombogenic mutations but advises against universal thrombophilia screening before prescribing COCs given the low prevalence of thrombophilia and high screening costs. OBJECTIVE: Through the lens of lifetime costs and benefits, this paper systematically and critically reviews all published economic evaluations of thrombophilia screening prior to prescribing COCs...
March 13, 2017: Applied Health Economics and Health Policy
https://www.readbyqxmd.com/read/28288891/why-temporary-filters-are-not-removed-clinical-predictors-in-1-000-consecutive-cases
#11
Dustin Y Yoon, Ashley K Vavra, Aaron C Eifler, Katherine Teter, Mark K Eskandari, Robert K Ryu, Heron E Rodriguez
OBJECTIVES: Compared to permanent inferior vena cava (IVC) filters, higher complication rates occur with long-term use of temporary IVC filters. We aimed to identify patient clinical factors at the time of placement that could predict failure to remove a temporary IVC filter. METHODS: A retrospective review was performed of both vascular surgery and interventional radiology prospective databases between December 2008 and December 2013. We analyzed a total number of 1,024 consecutive, temporary IVC filters stratified by whether retrieval was attempted or made permanent...
March 10, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28286254/sibling-recurrence-of-total-anomalous-pulmonary-venous-drainage
#12
J H McDermott, D D D Study, J Clayton-Smith
Many childhood syndromic disorders are associated with congenital heart defects, but few present specifically with total anomalous pulmonary venous drainage (TAPVD). Here, we report two siblings presenting with TAPVD, tracheo-oesophageal fistula and dysmorphic features in the neonatal period. Careful examination of the mother revealed subtle facial asymmetry and a pre-auricular tag, suggesting a potential variable expression of a dominant disorder. Whole exome sequencing identified a pathogenic heterozygous mutation in EFTUD2, a gene, normally associated with mandibulofacial dystosis Guion-Almedia type (MFDGA), in both siblings and the mother...
March 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28285544/improvement-of-aav-mediated-liver-transduction-efficacy-by-regional-administration-in-macaca-fascicularis
#13
Nerea Zabaleta, David Salas, Maria Paramo, Mirja Hommel, Valerie Valerie Sier-Ferreira, Ruben Hernandez-Alcoceba, Jesus Prieto, Jose Ignacio Bilbao, Gloria Gonzalez-Aseguinolaza
The liver is a central organ in metabolism and can be affected by numerous inherited metabolic disorders. Recombinant adeno-associated virus (AAV)-based gene therapy represents a promising therapeutic approach for such diseases. AAVs have been demonstrated to be safe, and resulted in high and long-term expression in preclinical and clinical studies. However, there are still some concerns regarding the expression levels that can be achieved and the percentage of hepatocytes that can be transduced. Due to the cell-autonomous nature of most metabolic liver disorders, a high percentage of hepatocytes needs to be corrected in order to achieve a therapeutic effect...
March 12, 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28280376/single-donor-islet-transplantation-in-type-1-diabetes-patient-selection-and-special-considerations
#14
REVIEW
Jacob A Tatum, Max O Meneveau, Kenneth L Brayman
Type 1 diabetes mellitus is an autoimmune disorder of the endocrine pancreas that currently affects millions of people in the United States. Although the disease can be managed with exogenous insulin administration, the ultimate cure for the condition lies in restoring a patient's ability to produce their own insulin. Islet cell allotransplantation provides a means of endogenous insulin production. Though far from perfected, islet transplants are now a proven treatment for type 1 diabetics. However, proper patient selection is critical for achieving optimal outcomes...
2017: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
https://www.readbyqxmd.com/read/28274735/nailfold-capillaroscopy-in-diabetes-mellitus
#15
G Maldonado, R Guerrero, C Paredes, C Ríos
INTRODUCTION: Diabetes mellitus (DM) is characterized by chronic hyperglycemia states and the development of specific microvascular disorders such as retinopathy and nephropathy. Conventional methods are used to study the vascular compromise of this entity, however, the use of capillaroscopy for the evaluation of capillary microarchitecture is not frequently used. METHODS AND MATERIALS: Observational and descriptive study of 65 patients with an established diagnosis of DM and a control group that underwent an initial capillaroscopy examination...
March 6, 2017: Microvascular Research
https://www.readbyqxmd.com/read/28274021/pharmaco-penile-duplex-ultrasonography-in-the-evaluation-of-erectile-dysfunction
#16
Phani Chakravarty Mutnuru, Harshavardhana Kuruba Ramanjaneyulu, Rammurti Susarla, Jyotsna Yarlagadda, Rahul Devraj, Prabakaran Palanisamy
INTRODUCTION: The National Institute of Health defined 'erectile dysfunction' as the persistent inability to achieve and/or to maintain an erection for a satisfactory sexual performance. In last few years, the concept of erectile dysfunction has evolved from that of a disorder referred to as 'impotence' which used to be considered predominantly psychogenic to that of 'Erectile Dysfunction' (ED), a well understood physiologic result of multiple risk factors, both psychological and organic...
January 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28271675/vitamin-d-deficiency-and-a-blunted-parathyroid-hormone-response-in-children-with-attention-deficit-hyperactivity-disorder
#17
Sibelnur Avcil, Pinar Uysal, Mustafa Yilmaz, Duygu Erge, Sevcan K Demirkaya, Esra Eren
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is the most frequently diagnosed neuropsychiatric disorder of childhood. The etiopathogenesis of ADHD has not been fully defined. Recent evidence has suggested a pathophysiological role of vitamin D deficiency in ADHD. In this study, we evaluated the serum levels of 25-hydroxy vitamin D (25(OH)D), parathyroid hormone (PTH), calcium (Ca), phosphate (P), and alkaline phosphatase (ALP) in children with ADHD. METHODS: The study group consisted of 105 children diagnosed with ADHD according to DSM-IV-TR criteria...
March 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28268850/anticoagulation-manager-development-of-a-clinical-decision-support-mobile-application-for-management-of-anticoagulants
#18
Chih-Wen Cheng, Hang Wu, Pamela J Thompson, Julie R Taylor, Barbara A Zehnbauer, Karlyn K Wilson, May D Wang
Patients with certain clotting disorders or conditions have a greater risk of developing arterial or venous clots and downstream embolisms, strokes, and arterial insufficiency. These patients need prescription anticoagulant drugs to reduce the possibility of clot formation. However, historically, the clinical decision making workflow in determining the correct type and dosage of anticoagulant(s) is part science and part art. To address this problem, we developed Anticoagulation Manager, an intelligent clinical decision workflow management system on iOS-based mobile devices to help clinicians effectively choose the most appropriate and helpful follow-up clotting tests for patients with a common clotting profile...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28266961/thoracic-manifestations-of-klippel-trenaunay-syndrome
#19
Mark M Hammer, Wallace T Miller
Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by venous malformations and a predisposition to pulmonary embolism. We reviewed the imaging findings of 7 adult patients with KTS who underwent thoracic CT. While the superficial manifestations of KTS predominantly affect the extremities, patients frequently develop abnormalities of the pulmonary arterial system, particularly chronic thromboembolic pulmonary hypertension. Additionally, some patients are seen to develop pulmonary arteriolar aneurysms; the physiologic significance of this finding is unknown at this time...
March 6, 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28262755/clinical-characteristics-and-prognosis-of-cerebral-venous-thrombosis-in-chinese-women-during-pregnancy-and-puerperium
#20
Zhu-Wei Liang, Wan-Li Gao, Li-Min Feng
Due to the specific physiology associated with pregnancy and puerperium, cerebral venous sinus thrombosis (CVT) may manifest different characteristics. This study aimed to identify the clinical manifestations and prognosis of pregnancy-associated CVT. A total of 43 pregnancy-associated CVT patients were enrolled. We analysed the clinical presentations of the disease and performed a multivariate logistic regression analysis to determine which variables were associated with prognosis. Our descriptive results showed the following: 1) the incidence was 202 per 100,000 deliveries, and the mortality rate was 11...
March 6, 2017: Scientific Reports
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