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Matthijs J L Perenboom, Amir H Zamanipoor Najafabadi, Ronald Zielman, Johannes A Carpay, Michel D Ferrari
Enhanced sensitivity to light (photophobia) and patterns is common in migraine, and can be regarded as visual allodynia. We aimed to develop and validate a questionnaire to easily quantify sensitivity to light and patterns in large populations, and to assess and compare visual allodynia across different migraine subtypes and states. We developed the Leiden Visual Sensitivity Scale (L-VISS), a 9-item scale (score range 0-36 points), based on literature and patient interviews, and examined its construct validity...
July 12, 2018: Pain
Mackenzie Green, Toby Styles, Timothy Russell, Charif Sada, Ebrima Jallow, Jack Stewart, Otar Lazariashvili, Irina Lubomirova, Ioana Cotlarciuc, Sapna Sharma, Thang S Han, Pankaj Sharma
INTRODUCTION: A wide variety of non-genetic and genetic factors have been shown to associate with increased risk for cerebral venous thrombosis (CVT). However, there is a paucity of risk factor data and conclusions about their impact are often conflicting. Herein, we quantified the associations of non-genetic and genetic risk factors for CVT in adults. MATERIALS AND METHODS: Electronic databases were searched up to January 2017. Meta-analyses were performed (RevMan v5...
July 6, 2018: Thrombosis Research
Lisa B E Shields, Dennis S Peppas, Eran Rosenberg
BACKGROUND: Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic disorder that primarily affects males, patients with Lesch-Nyhan syndrome exhibit severe neurological impairments, including choreoathetosis, ballismus, cognitive dysfunction, and self-injurious behavior. Uric acid levels are usually abnormally high, leading to kidney and bladder stones which often necessitate urological intervention...
July 12, 2018: BMC Pediatrics
Isaura S Ibrahim, Martin N J M Wasser, Yinghui Wu, Akin Inderson, Wouter H De Vos Tot Nederveen Cappel, Hans Morreau, Frederik J Hes, Roeland A Veenendaal, Hein Putter, Shirin Feshtali, Anneke M van Mil, Nelleke A Gruis, Robert A E M Tollenaar, Wilma Bergman, Bert A Bonsing, Hans F A Vasen
CDKN2A-p16-Leiden mutation carriers have a 20-25% risk of developing pancreatic ductal adenocarcinoma (PDAC). Better understanding of the natural course of PDAC might allow the surveillance protocol to be improved. The aims of the study were to evaluate the role of cystic precursor lesions in the development of PDAC and to assess the growth rate. In 2000, a surveillance program was initiated, consisting of annual MRI in carriers of a CDKN2A-p16-Leiden mutation. The study cohort included 204 (42% male) patients...
July 10, 2018: Cancer Prevention Research
Hisham Salahuddin, Ajaz Ahmad Sheikh, Sharmeen Hussaini, Cherian Verghese, Gretchen E Tietjen
Plasmapheresis involves the separation of all cellular elements of blood with the help of an extracorporeal semipermeable membrane. Even though plasmapheresis is generally considered safe, there have been anecdotal reports of thrombosis related to this exchange. We present 2 cases of healthy young males developing ischemic strokes within 24 hours of plasmapheresis. Patient A was a 24-year-old man with a family history of Factor V Leiden mutation presented with right-sided weakness 1 hour after donating plasma...
March 29, 2018: American Journal of the Medical Sciences
K M H Vangangelt, L S A Tollenaar, G W van Pelt, E M de Kruijf, T J A Dekker, P J K Kuppen, R A E M Tollenaar, W E Mesker
The tumor-stroma ratio (TSR) has previously been found to be a strong prognostic parameter in primary breast cancer tumors. Since the presence of tumor cells in lymph nodes is important for clinical decision making, the influence of TSR in the primary breast tumor combined with the TSR in tumor-positive lymph nodes on prognosis was evaluated. Women with invasive breast cancer without distant metastasis who underwent an axillary lymph node dissection between 1985 and 1994 at the Leiden University Medical Center were retrospectively analyzed...
July 6, 2018: International Journal of Cancer. Journal International du Cancer
Iulia Armean, Carmen Duicu, Cornel Aldea, Lorena Melit
Introduction: Venous thromboembolism is a rare condition in paediatrics that included both deep venous thrombosis and pulmonary embolism. Serratia marcescens is a gram-negative bacterium that belongs to the Enterobacteriaceae family and tends to affect immunocompromised hosts. Case report: We report the case of an 11-year-old boy, admitted in the Pediatric Clinic I from Emergency County Hospital Tîrgu Mureş, Romania with intense pain, swelling, cyanosis and claudication of the left foot...
January 2018: The journal of critical care medicine
Aiman Obed, Abdalla Bashir, Anwar Jarrad
BACKGROUND Acute-on-chronic liver failure was first defined within the last 10 years as acute decompensation of chronic liver disease accompanied by multiorgan failure and poor outcome. Budd-Chiari syndrome is a rare and potentially deadly hepatic condition. To the best of our knowledge, this is the first case report of a live liver donor recipient with antiphospholipid antibody syndrome. CASE REPORT A 47-year-old woman from Sudan with acute-on-chronic liver failure and subacute Budd-Chiari syndrome triggered by active pneumonia was evacuated to Amman, Jordan...
June 30, 2018: American Journal of Case Reports
Svetlana Akinshina, Alexander Makatsariya, Victoria Bitsadze, Jamilya Khizroeva, Nadine Khamani
BACKGROUND: Despite intensive research, thromboembolism still accounts for significant maternal morbidity and mortality. We examined thrombophilia in patients with thromboembolism during pregnancy and evaluated the efficiency of antithrombotic prophylaxis in patients with thrombophilia for the prevention of recurrent thromboembolism. MATERIALS AND METHODS: Sixty-eight women with a history of thromboembolism were managed during pregnancy, in light of their thrombotic history and the result of thrombophilia assessment...
June 27, 2018: Journal of Perinatal Medicine
Adrian Lee, Viive M Howell, Malinda Itchins, Helen R Wheeler, Nick Pavlakis
No abstract text is available yet for this article.
June 5, 2018: Clinical Lung Cancer
Mert Ulaş Barut, Murat Bozkurt, Mehmet Kahraman, Engin Yıldırım, Necat Imirzalioğlu, Ayhan Kubar, Sibel Sak, Elif Ağaçayak, Tarık Aksu, Hakan Çoksüer
BACKGROUND Thrombophilic gene polymorphism is known to be a risk factor for recurrent pregnancy loss (RPL), but few studies have confirmed a possible role of thrombophilic genes polymorphism in RPL risk. This study was conducted to understand the relationship of the mutations of some thrombophilia-associated gene polymorphism (heterozygous/homozygous) with RPL. We compared patients with 2 abortions to patients with 3 or more abortions among Turkish women. MATERIAL AND METHODS In this study, patients previously diagnosed with habitual abortus at Obstetrics and Gynecology outpatient clinics in Turkey between 2012 and 2016 were included...
June 22, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Daryoush Samim, Pedro Marques-Vidal, Lorenzo Alberio, Gérard Waeber, Marie Méan
The predictive value of factor V Leiden and the G20210A prothrombin mutation regarding recurrent venous thromboembolism (VTE) is limited and does not influence subsequent patient management. Systematic testing for such genetic thrombophilia should be avoided, but to which extent such testing is practiced in a Swiss Hospital is unknown. To examine the current practice of factor V Leiden and/or G20210A prothrombin mutation testing in a University Hospital, and to assess the clinical consequences of testing on patients...
June 19, 2018: Journal of Thrombosis and Thrombolysis
Nina C A Vermeer, Renu R Bahadoer, Esther Bastiaannet, Fabian A Holman, Elma Meershoek-Klein Kranenbarg, Gerrit-Jan Liefers, Cornelis J H van de Velde, Koen C M J Peeters
AIM: In 2014, a national colorectal cancer (CRC) screening program was launched in the Netherlands. It is difficult to assess for the individual CRC patient whether the oncological benefits of surgery will outweigh the morbidity of the procedure, especially in early lesions. This study compares patient and tumour characteristics between screen-detected and non-screen-detected patients. Secondly, we present an overview of treatment options and clinical dilemmas when treating patients with early stage colorectal disease...
June 19, 2018: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
Simon T Hui, Zeyneb Kurt, Iina Tuominen, Frode Norheim, Richard C Davis, Calvin Pan, Darwin L Dirks, Clara E Magyar, Samuel W French, Karthickeyan Chella Krishnan, Simon Sabir, Francisco Campos-Pérez, Nahum Méndez-Sánchez, Luis Macías-Kauffer, Paola León-Mimila, Samuel Canizales-Quinteros, Xia Yang, Simon W Beaven, Adriana Huertas-Vazquez, Aldons J Lusis
We report the genetic analysis of a "humanized" hyperlipidemic mouse model for progressive nonalcoholic steatohepatitis (NASH) and fibrosis. Mice carrying transgenes for human APOE*3-Leiden and CETP and fed a "Western" diet were studied on the genetic backgrounds of over 100 inbred mouse strains. The mice developed hepatic inflammation and fibrosis that was highly dependent on genetic background, with vast differences in the degree of fibrosis. Histological analysis showed features characteristic of human NASH, including macrovesicular steatosis, hepatocellular ballooning, inflammatory foci and pericellular collagen deposition...
June 16, 2018: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Wisam Jasim Mohammed, Bassam Musa Sadik Al-Musawi, Christian Oberkanins, Helene Pühringer
Objective: The underlying molecular basis of ischemic heart diseases (IHDs) has not yet been studied among Iraqi people. This study determined the frequency and types of some cardiovascular genetic risk factors among Iraqi patients with IHDs. Methods: This is a cross-sectional study recruiting 56 patients with acute IHD during a 2-month period excluding patients >50 years and patients with documented hyperlipidemia. Their ages ranged between 18 and 50 years; males were 54 and females were only 2...
May 2018: International Journal of Health Sciences
Sarina E C Pichardo, Frans Willem Ten Broek, J P Richard van Merkesteyn
PURPOSE: The treatment of pathologic fractures in stage III medication-related osteonecrosis of the jaw (MRONJ) remains challenging. The treatment in the literature is controversial, varying from extensive and aggressive surgery with resections and musculocutaneous free flap reconstruction to conservative treatment with only mouth rinses and/or antimicrobial treatment. The purpose of this study was to analyse the results of the treatment protocol in the Leiden University Medical Center in the Netherlands...
June 6, 2018: Journal of Cranio-maxillo-facial Surgery
Evelien M Sandberg, Fleur S Leinweber, Petra J Herbschleb, Dorien M A Berends-van der Meer, Frank Willem Jansen
The aim of this study was to evaluate the catheterisation regimes after a laparoscopic hysterectomy (LH) in Dutch hospitals and to assess the nurses' opinion on this topic. This was particularly relevant as no consensus exists on the best moment to remove a urinary catheter after an LH. All 89 Dutch hospitals were successfully contacted and provided information on their catheterisation regime after LH: 69 (77.5%) hospitals reported removing the catheter the next morning after the LH, while nine hospitals (10...
June 8, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
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
Toshiki Takenouchi, Hiroyuki Shimada, Tomoko Uehara, Yae Kanai, Takao Takahashi, Kenjiro Kosaki
Loss-of-function mutations in coagulation cascade proteins lead to bleeding diasthesis. In contrast, gain-of-function mutations in these proteins, which are exceptionally rare, lead to hereditary thrombosis. This is best exemplified by Factor V (i.e., Factor V Leiden) and Factor II (i.e., p.Arg596Leu). Here, we report a family with hereditary thrombosis. The proposita presented with cerebral venous thrombosis accompanied by infarction at the age of 12 years. Despite anticoagulation therapy with oral warfarin, she later developed deep venous thrombosis in her hepatic portal veins at the age of 27 years...
June 4, 2018: European Journal of Medical Genetics
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