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Venous disorders

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https://www.readbyqxmd.com/read/29896748/-identification-of-a-homozygous-ass1-mutation-in-a-child-with-citrullinemia-type-%C3%A2-with-high-melting-curve-method
#1
Jingjing Sun, Yunlin Shen, Chongbing Yan, Xiaohui Gong
OBJECTIVE: To carry out rapid genetic diagnosis for a child affected with citrullinemia type Ⅰ. METHODS: Peripheral venous blood samples were obtained from the two-day-old child and his parents as well as 100 healthy controls. Serum ammonia and citrulline was determined by biochemical test and tandem mass spectrometry. Sixteen pairs of primers were designed for high-resolution melting (HRM) analysis of all exons and adjacent intronic sequences of the ASS1 gene in the proband, parents and healthy controls...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29893601/posttraumatic-deep-vein-thrombosis-in-collegiate-athletes-an-exploration-clinical-case-series
#2
Chris Hummel, Paul R Geisler, Tim Reynolds, Todd Lazenby
BACKGROUND:   Although athletes are typically at low risk for developing venous thromboembolism (VTE), injured and noninjured athletes alike can be exposed to many acquired risk factors, including intense training, dehydration, trauma, immobilization, oral contraceptive use, and long-distance travel. Additionally, the risk of developing VTE might be increased by unidentified genetic clotting disorders. Due to the potential for fatal outcomes, knowledge of VTE pathoetiology and recognition of deep vein thrombosis (DVT) presentation should be an inherent part of the evaluation process for all who attend to athletes, regardless of age and apparent risk profile...
June 12, 2018: Journal of Athletic Training
https://www.readbyqxmd.com/read/29879569/association-of-factor-v-activity-with-risk-of-venous-thromboembolism-and-atherothrombotic-cardiovascular-events-a-retrospective-population-based-cohort-study
#3
Walid Saliba, Amir Warwar, Antonio Kotler, Shai Cohen, Nili Stein, Gad Rennert, Deborah L Ornstein, Meir Preis
INTRODUCTION: Factor V (FV) deficiency is a rare inherited coagulation disorder associated with bleeding tendency. As a result, it has been postulated that decreased FV activity may confer protection against venous thromboembolism and atherothrombotic cardiovascular events. MATERIALS AND METHODS: Using the electronic database of the largest health care provider in Israel, we identified all adult individuals who were tested for FV activity between January 2004 and June 2017...
May 31, 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29874693/vascular-anomalies-part-i-classification-and-diagnostics-of-vascular-anomalies
#4
Maliha Sadick, René Müller-Wille, Moritz Wildgruber, Walter A Wohlgemuth
BACKGROUND:  Vascular anomalies are a diagnostic and therapeutic challenge. They require dedicated interdisciplinary management. Optimal patient care relies on integral medical evaluation and a classification system established by experts in the field, to provide a better understanding of these complex vascular entities. METHOD:  A dedicated classification system according to the International Society for the Study of Vascular Anomalies (ISSVA) and the German Interdisciplinary Society of Vascular Anomalies (DiGGefA) is presented...
June 6, 2018: RöFo: Fortschritte Auf Dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
https://www.readbyqxmd.com/read/29873216/-effect-of-resection-of-adenoids-and-tonsillectomy-on-immune-function-in-children-with-obstructive-sleep-apnea-hypopnea-syndrome
#5
Y G Lan, K Chen, Z X Zhang, Y H Ye, Z G Zhang
Objective: To remove the immune function of children with obstructive sleep apnea hypopnea syndrome by resection of adenoids and tonsillar. Method: The fasting peripheral venous blood of children with OSAHS and healthy children were collected. The lymphocyte subsets, NK cells and immunoglobulin levels were compared between the two groups. The fasting blood samples of OSAHS children were collected again after 2d, 30d, 60d and 90d after operation. The changes of lymphocyte subsets, NK cells and immunoglobulin levels were observed after operation...
May 2018: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/29873003/impact-of-functional-status-on-6-month-mortality-in-elderly-patients-with-acute-venous-thromboembolism-results-from-a-prospective-cohort
#6
Covadonga Gómez-Cuervo, Carmen Díaz-Pedroche, María Asunción Pérez-Jacoiste Asín, Antonio Lalueza, Roberto Del Pozo, Raquel Díaz-Simón, Francisco Trapiello, Diana Paredes, Carlos Lumbreras
Functional status linked to a poor outcome in a broad spectrum of medical disorders. Barthel Activities of Daily Life Index (BADLI) is one of the most extended tools to quantify functional dependence. Whether BADLI can help to predict outcomes in elderly patients with acute venous thromboembolism (VTE) is unknown. The current study aimed to ascertain the influence of BADLI on 6-month all-cause mortality in aged patients with VTE. This is a prospective observational study. We included consecutive patients older than 75-year-old with an acute VTE between April 2015 and April 2017...
June 5, 2018: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/29872244/hypercoagulable-states-and-thrombophilias-risks-relating-to-recurrent-venous-thromboembolism
#7
REVIEW
Marissa D Rybstein, Maria T DeSancho
Inherited and acquired thrombophilias and hypercoagulable states, such as active cancer, estrogen-induced, autoimmune disorders, major surgery, hospitalization, and trauma, are well-known risk factors for venous thromboembolism (VTE). The effect of these on recurrent VTE is different for each specific risk factor. The major risk factors affecting VTE recurrence include the presence of active cancer and an unprovoked first VTE. In addition, the use of combined female hormones in a woman with a previous history of estrogen-related VTE is a major risk factor for VTE recurrence...
June 2018: Seminars in Interventional Radiology
https://www.readbyqxmd.com/read/29871479/management-of-chronic-venous-disorders-of-the-lower-limbs-guidelines-according-to-scientific-evidence-part-i
#8
Andrew Nicolaides, Stavros Kakkos, Niels Baekgaard, Anthony Comerota, Marianne de Maesenner, Bo Eklof, Athanasios D Giannoukas, Marzia Lugli, Oscar Maleti, Ken Myers, Olle Nelzén, Hugo Partsch, Michel Perrin
No abstract text is available yet for this article.
June 2018: International Angiology: a Journal of the International Union of Angiology
https://www.readbyqxmd.com/read/29869533/the-current-state-of-advanced-therapy-medicinal-products-in-the-czech-republic
#9
Zuzana Koci, Tomáš Boráň, Petr Krupa, Sarka Kubinova
Advanced therapy medicinal products (ATMPs) represent a new generation of biopharmaceuticals that comprise gene therapy medicinal products (GTMPs), somatic cell therapy products (CTMPs), tissue engineered products (TEPs) and combined advanced therapy medicinal products (cATMPs). The joint effort of the academia-industry-regulatory triangle translated scientific progress into nine authorised ATMPs in the European Community. This notion holds promise for the whole field of ATMP therapies that have been increasingly evaluated in a number of clinical studies, also in the Czech Republic (CR)...
June 5, 2018: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/29868867/acute-thrombosis-of-the-ascending-aorta-causing-right-ventricular-failure-first-manifestation-of-antiphospholipid-syndrome
#10
Miklós Pólos, Attila Kovács, Endre Németh, Béla Merkely
Antiphospholipid syndrome is an autoimmune disorder with frequent clinical manifestation of arterial, venous or small vessel thromboembolic events and/or foetal morbidity. Hereby, we present a case report of a patient with a large arterial thrombus originating from the ostium of the right coronary artery accompanied by multiple systemic embolization and right ventricular failure. As a bridge-to-recovery strategy, an extracorporeal right ventricular assist device was successfully applied, representing an effective first choice option in selected patients with isolated acute right heart failure...
June 3, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29866676/cerebral-venous-sinus-thrombosis-precipitated-by-graves-disease
#11
Abdul Rehman, Muhammad Ghazanfar Husnain, Kamran Mushtaq, Mohsen Saleh Eledrisi
Cerebral venous sinus thrombosis usually occurs in patients with a precipitating condition such as thrombophilic disorders, pregnancy or due to medications, such as oestrogens. Some case reports have reported the co-occurrence of cerebral venous sinus thrombosis in patients with hyperthyroidism. However, the association of cerebral venous sinus thrombosis with hyperthyroidism remains contentious. We present the case of a patient who presented with a clinical picture of cerebral venous sinus thrombosis with no obvious precipitating factor...
June 4, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29851802/a-10-year-delayed-diagnosis-of-blue-rubber-bleb-nevus-syndrome-characterized-by-refractory-iron-deficiency-anemia-a-case-report-and-literature-review
#12
Xue Tang, Ju Gao, Xue Yang, Xia Guo
RATIONALE: Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder consisting of multifocal venous malformations. Delayed diagnosis or misdiagnosis frequently occurs in patients without typical cutaneous lesions or gastrointestinal bleeding symptoms. This article reports a 10-year case of delayed diagnosis of BRBNS detected by capsule endoscopy. PATIENT CONCERNS AND DIAGNOSIS: A 15-year-old girl presented with refractory iron-deficiency anemia (IDA) for 10 years, without any hemorrhagic signs or noticeable cutaneous lesions, which led to her obvious physical growth retardation...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29845960/antiphospholipid-syndrome-complicating-pneumococcal-meningitis
#13
Suresh Mekala, C G Delhi Kumar, Reena Gulati
BACKGROUND: Antiphospholipid syndrome is a multisystem auto-immune disorder characterized by arterial or venous thrombosis in children. CASE CHARACTERISTICS: 11-year-old child with pneumococcal meningitis also had cerebral sinus vein thrombosis and pulmonary artery segmental thrombosis. OBSERVATION: Pro-thrombotic evaluation showed positive lupus anticoagulant at baseline and after 12 weeks. Investigations for lupus were negative at admission and after one year of follow-up...
May 15, 2018: Indian Pediatrics
https://www.readbyqxmd.com/read/29808768/the-influence-of-age-on-valve-disease-in-patients-with-varicose-veins-analysed-by-transmission-electron-microscopy-and-stereology
#14
Wolfgang G Mouton, Michael O Wagner, Beat Haenni, Kim T Mouton, Matthias Ochs, Stefan A Tschanz
BACKGROUND: The aim of this study was to investigate the influence of age on the ultrastructure of venous valve morphology in patients with C2 classified chronic venous disorders according to the CEAP classification. PATIENTS AND METHODS: The study population consisted of 16 consecutive patients with varicose veins (C2). The mean age was 49.8 years (30-66). The (pre-) terminal valve including the vessel wall was harvested within the proximal 2 centimetres of the great saphenous vein...
May 29, 2018: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/29806289/-injury-characteristics-and-therapeutic-strategy-of-patients-injured-in-8%C3%A2-8-jiuzhaigou-earthquake
#15
Bo Shi, Gang Liu, Lin Li, Shitian Tang, Jun Wang, Mingrui Xie, Xiaoyu Dai, Jianyong He, Yun Zhang, Yi Tang, Jianbo Xianyu, Dong Wang, Mei He, Weiyun Xu, Zhongjin Song, Ying Ma, Fuguo Huang, Yueming Song
Objective: To summarize the injury characteristics and therapeutic strategy of patients injured in "8·8" Jiuzhaigou earthquake. Methods: The clinical data of 48 patients injured in "8·8" Jiuzhaigou earthquake who were admitted to Mianyang Central Hospital were analyzed retrospectively. There were 25 males and 23 females with an average age of 36 years (range, 5-87 years). The average interval from injury to admission was 30 hours (range, 3-53 hours)...
March 1, 2018: Chinese Journal of Reparative and Reconstructive Surgery
https://www.readbyqxmd.com/read/29800829/microvascular-and-large-vein-abnormalities-in-young-patients-after-mild-head-trauma-and-associated-fatigue-a-brain-spect-evaluation-and-posture-dependence-modeling
#16
Tiffany Crider, Derrick Eng, Pooja R Sarkar, Janet Cordero, John Claude Krusz, Subhendra N Sarkar
OBJECTIVE: MRI and CT scans are usually normal in mild traumatic brain injury (mTBI) although 15-20% of such patients suffer for months from fatigue, headache, anxiety, sleep and other disorders. mTBI is suspected to be a cerebrovascular injury, similar to moderate and severe TBI. Brain SPECT is more sensitive and shows perfusion abnormalities immediately after mTBI. This work explores the perfusion abnormalities for young patients suffering from fatigue several months after mTBI. PATIENTS AND METHODS: Twelve mTBI patients (age:8-36 yr, 4 male) with no history of fatigue prior to trauma were prospectively studied following onset of fatigue 6-12 months after mTBI utilizing 99 m-Tc ECD brain SPECT with early and delayed radiotracer imaging...
July 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29800106/functional-role-of-endothelial-cxcl16-cxcr6-platelet-leukocyte-axis-in-angiotensin-ii-associated-metabolic-disorders
#17
Aida Collado, Patrice Marques, Paula Escudero, Cristina Rius, Elena Domingo, Sergio Martinez-Hervás, José T Real, Juan F Ascaso, Laura Piqueras, Maria-Jesus Sanz
Aim: Angiotensin-II (Ang-II) is the main effector peptide of the renin-angiotensin system (RAS) and promotes leukocyte adhesion to the stimulated endothelium. Because RAS activation and Ang-II signaling are implicated in metabolic syndrome (MS) and abdominal aortic aneurysm (AAA), we investigated the effect of Ang-II on CXCL16 arterial expression, the underlying mechanisms, and the functional role of the CXCL16/CXCR6 axis in these cardiometabolic disorders. Methods and Results: Results from in vitro chamber assays revealed that CXCL16 neutralization significantly inhibited mononuclear leukocyte adhesion to arterial but not to venous endothelial cells...
May 23, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29793769/report-of-a-man-with-heterotopic-ossification-of-the-legs
#18
Mónica García-Arpa, Miguel A Flores-Terry, Monserrat Franco-Muñoz, Natalia Villasanti-Rivas, Lucía González-Ruiz, M Eugenia Banegas-Illescas
Heterotopic ossification is an uncommon disorder that consists of deposition of ectopic bone outside the extraskeletal tissues. In the skin, it can be primary, in association with genetic syndromes, or be secondary to different disorders. The latter include subcutaneous ossification of the legs in chronic venousinsufficiency, an infrequent and unrecognized complication. We report the case of a patient with subcutaneous ossification of both legs secondary to venous insufficiency and review the literature.
May 21, 2018: Reumatología Clinica
https://www.readbyqxmd.com/read/29789966/beh%C3%A3-et-s-syndrome-and-nervous-system-involvement
#19
REVIEW
Uğur Uygunoğlu, Aksel Siva
PURPOSE OF REVIEW: Although Behçet's syndrome (BS) is classified as a rare disease in European countries and the USA, its neurologic involvement "neuro-Behçet's syndrome (NBS)" is commonly included in the differential diagnosis of many inflammatory and vascular central nervous system (CNS) disorders. Clinical and neuroimaging findings support two major forms of NBS: parenchymal NBS (p-NBS) and an extra-parenchymal form that presents with cerebral venous sinus thrombosis (CVST)...
May 23, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29786011/nontraumatic-subperiosteal-orbital-hemorrhage-following-upper-gastrointestinal-endoscopy
#20
Swaranjali S Gore, Neha Rathi, Amol Y Ganvir, Nayana A Potdar, Monisha K Apte, Trupti R Marathe, Akshay Gopinathan Nair, Chhaya A Shinde
Subperiosteal hemorrhages are typically the result of blunt orbital or facial trauma. Nontraumatic subperiosteal hemorrhages are uncommon and are usually attributed to increase in central venous pressure and bleeding disorders. Here, we report the case of a 38-year-old female who underwent an upper gastrointestinal (GI) endoscopy and developed bilateral nontraumatic subperiosteal hemorrhages that resolved with conservative treatment. Here, we discuss the source of bleeding and the mechanisms for the occurrence of orbital subperiosteal bleeds...
June 2018: Indian Journal of Ophthalmology
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