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MAGIC syndrome

Sebastian M Waszak, Paul A Northcott, Ivo Buchhalter, Giles W Robinson, Christian Sutter, Susanne Groebner, Kerstin B Grund, Laurence Brugières, David T W Jones, Kristian W Pajtler, A Sorana Morrissy, Marcel Kool, Dominik Sturm, Lukas Chavez, Aurelie Ernst, Sebastian Brabetz, Michael Hain, Thomas Zichner, Maia Segura-Wang, Joachim Weischenfeldt, Tobias Rausch, Balca R Mardin, Xin Zhou, Cristina Baciu, Christian Lawerenz, Jennifer A Chan, Pascale Varlet, Lea Guerrini-Rousseau, Daniel W Fults, Wiesława Grajkowska, Peter Hauser, Nada Jabado, Young-Shin Ra, Karel Zitterbart, Suyash S Shringarpure, Francisco M De La Vega, Carlos D Bustamante, Ho-Keung Ng, Arie Perry, Tobey J MacDonald, Pablo Hernáiz Driever, Anne E Bendel, Daniel C Bowers, Geoffrey McCowage, Murali M Chintagumpala, Richard Cohn, Timothy Hassall, Gudrun Fleischhack, Tone Eggen, Finn Wesenberg, Maria Feychting, Birgitta Lannering, Joachim Schüz, Christoffer Johansen, Tina V Andersen, Martin Röösli, Claudia E Kuehni, Michael Grotzer, Kristina Kjaerheim, Camelia M Monoranu, Tenley C Archer, Elizabeth Duke, Scott L Pomeroy, Redmond Shelagh, Stephan Frank, David Sumerauer, Wolfram Scheurlen, Marina V Ryzhova, Till Milde, Christian P Kratz, David Samuel, Jinghui Zhang, David A Solomon, Marco Marra, Roland Eils, Claus R Bartram, Katja von Hoff, Stefan Rutkowski, Vijay Ramaswamy, Richard J Gilbertson, Andrey Korshunov, Michael D Taylor, Peter Lichter, David Malkin, Amar Gajjar, Jan O Korbel, Stefan M Pfister
BACKGROUND: Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. METHODS: In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED)...
May 9, 2018: Lancet Oncology
Mohammad G Saklayen
Metabolic syndrome, variously known also as syndrome X, insulin resistance, etc., is defined by WHO as a pathologic condition characterized by abdominal obesity, insulin resistance, hypertension, and hyperlipidemia. Though there is some variation in the definition by other health care organization, the differences are minor. With the successful conquest of communicable infectious diseases in most of the world, this new non-communicable disease (NCD) has become the major health hazard of modern world. Though it started in the Western world, with the spread of the Western lifestyle across the globe, it has become now a truly global problem...
February 26, 2018: Current Hypertension Reports
Harini Naidu, Winnie Szeto, Eugene Kissin, Francis A Farraye
No abstract text is available yet for this article.
February 15, 2018: Inflammatory Bowel Diseases
Stella Pak, Shaina Logemann, Christine Dee, Adam Fershko
Mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome refers to a condition in which features of Behcet's disease (BD) and relapsing polychondritis (RP) occur in the same individual. The existence of MAGIC syndrome suggests a potential common etiology for BD and RP. However, connecting these two diseases and referring to this condition as MAGIC syndrome might have been premature, as there is currently insufficient knowledge on BD and RP. In this critical review, we argue that these two clinical entities could possibly be unique disease processes rather than two ends of the same disease spectrum...
October 4, 2017: Curēus
Z S Khachaturian
No abstract text is available yet for this article.
2017: Journal of Prevention of Alzheimer's Disease
K Al Shidanhi, P McNally
No abstract text is available yet for this article.
August 12, 2017: Irish Medical Journal
Heung Bae Kim, Eliza J Lee, Khashayar Vakili, Deborah R Stein, Michael A Ferguson, Diego Porras, James E Lock, Francis Fynn-Thompson, Steven J Fishman
No abstract text is available yet for this article.
November 29, 2017: Annals of Surgery
P Valent, C Akin, K Hartmann, T I George, K Sotlar, B Peter, K V Gleixner, K Blatt, W R Sperr, P W Manley, O Hermine, H C Kluin-Nelemans, M Arock, H-P Horny, A Reiter, J Gotlib
Clinically relevant features in patients with systemic mastocytosis (SM) include the cosmetic burden of lesional skin, mediator-related symptoms, and organ damage resulting from mast cell (MC) infiltration in advanced forms of SM. Regardless of the SM variant, expansion of neoplastic MC in the skin and other organs is triggered by mutant forms of KIT, the most prevalent being D816V. Activation of MC with subsequent release of chemical mediators is often caused by IgE-dependent mechanisms in these patients. Midostaurin, also known as PKC412, blocks the kinase activity of wild-type KIT and KIT D816V, counteracts KIT-dependent growth of neoplastic MC, and inhibits IgE-dependent mediator secretion...
October 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
Sameer S Udhane, Balazs Legeza, Nesa Marti, Damian Hertig, Gaëlle Diserens, Jean-Marc Nuoffer, Peter Vermathen, Christa E Flück
Metformin is an antidiabetic drug, which inhibits mitochondrial respiratory-chain-complex I and thereby seems to affect the cellular metabolism in many ways. It is also used for the treatment of the polycystic ovary syndrome (PCOS), the most common endocrine disorder in women. In addition, metformin possesses antineoplastic properties. Although metformin promotes insulin-sensitivity and ameliorates reproductive abnormalities in PCOS, its exact mechanisms of action remain elusive. Therefore, we studied the transcriptome and the metabolome of metformin in human adrenal H295R cells...
August 17, 2017: Scientific Reports
Kuruthukulangara S Jacob
PURPOSE OF REVIEW: Patient and physician perspectives about mental health, illness, and recovery, which affect different aspects of help seeking and healthcare, needs to be understood and theorized. RECENT FINDINGS: People seem to simultaneously hold multiple and contradictory illness beliefs and seek help from diverse sources of cure and healing. Explanatory models elicited at baseline do not predict outcomes of illness, change over time, and are dependent on the interaction between the trajectory of individual's illness and the sociocultural milieu...
September 2017: Current Opinion in Psychiatry
Monica L Hulbert, Julie A Panepinto, J Paul Scott, Robert I Liem, Lawrence J Cook, Timothy Simmons, David C Brousseau
BACKGROUND: Little is known about red blood cell (RBC) transfusion practices for children hospitalized for a sickle cell vaso-occlusive pain crisis (VOC). We hypothesized that transfusion would be associated with the development of acute chest syndrome (ACS), lower hemoglobin (Hb) concentration, and lack of hydroxyurea therapy. STUDY DESIGN AND METHODS: This is a secondary analysis of all children admitted for a sickle cell pain crisis enrolled in the Magnesium in Crisis (MAGiC) randomized trial; all had HbSS or S-β0 thalassemia...
August 2017: Transfusion
Ryszard Grenda, Wioletta Jarmużek, Jacek Rubik, Barbara Piątosa, Sylwester Prokurat
UNLABELLED: Pediatric patients with end-stage renal failure due to severe drug-resistant nephrotic syndrome are at risk of rapid recurrence after renal transplantation. Treatment options include plasmapheresis, high-dose of cyclosporine A/methylprednisolone and more recently-rituximab (anti-B CD20 monoclonal depleting antibody). We report five patients with immediate (1-2 days) post-transplant recurrence of nephrotic syndrome, treated with this kind of combined therapy including 2-4 weekly doses of 375 mg/m(2) of rituximab...
September 2016: European Journal of Pediatrics
Yuka Kaneko, Noriaki Nakai, Takashi Kida, Yutaka Kawahito, Norito Katoh
Mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome are disease that fulfilled criteria for diagnosis of Behcet's disease (BD) and relapsing polychondritis (RP). We report a 22-year-old Japanese woman presented with MAGIC syndrome and we described the clinicopathological characteristics of MAGIC syndrome based on a review of published cases from July 1985 to December 2015. In our case, the patient with oral aphthae, erythema nodosum, acne-like eruptions, uveitis, and polyarthritis fulfilled criteria for diagnosis of incomplete form of BD...
May 2016: Indian Journal of Dermatology
C Lemos, D Rial, F Q Gonçalves, J Pires, H B Silva, F C Matheus, A C da Silva, J M Marques, R J Rodrigues, I Jarak, R D Prediger, F Reis, R A Carvalho, F C Pereira, R A Cunha
High sugar consumption is a risk factor for metabolic disturbances leading to memory impairment. Thus, rats subject to high sucrose intake (HSu) develop a metabolic syndrome and display memory deficits. We now investigated if these HSu-induced memory deficits were associated with metabolic and electrophysiological alterations in the hippocampus. Male Wistar rats were submitted for 9 weeks to a sucrose-rich diet (35% sucrose solution) and subsequently to a battery of behavioral tests; after sacrifice, their hippocampi were collected for ex vivo high-resolution magic angle spinning (HRMAS) metabolic characterization and electrophysiological extracellular recordings in slices...
February 19, 2016: Neuroscience
Marco G Alves, Ana D Martins, Ivana Jarak, Alberto Barros, Joaquina Silva, Mário Sousa, Pedro F Oliveira
Klinefelter syndrome (KS) is the most common genetic cause of human infertility, but the mechanism(s) responsible for its phenotype remain largely unknown. KS is associated with alterations in body composition and with a higher risk of developing metabolic diseases. We therefore hypothesized that KS men seeking fertility treatment possess an altered testicular metabolism profile that may hamper the nutritional support of spermatogenesis. Testicular biopsies from control (46, XY) (n = 6) and KS (47, XXY) (n = 6) individuals were collected and analyzed by proton high-resolution magic-angle spinning nuclear magnetic resonance spectroscopy...
March 2016: Molecular Reproduction and Development
Boris Ajdinovic, Tamara Dragovic, Zvonko Magic, Nikola Kocev
OBJECTIVE: Diabetic nephropathy (DN) is a clinical syndrome characterized by persistent albuminuria, increasing arterial blood pressure and progressive decline in glomerular filtration rate (GFR). When persistent albuminuria is established, antihypertensive treatment becomes most important factor in slowing the progression of diabetic glomerulopathy. Aim of this study was to examine if renoprotective response to losartan therapy, in patients with diabetic nephropathy, depends on 1166 A/C gene polymorphism for its target receptor, angiotensin II type 1 receptor (AT1R)...
September 2015: Hellenic Journal of Nuclear Medicine
Julie L Huffmyer, Danja S Groves
Pulmonary complications after the use of extracorporeal circulation are common, and they range from transient hypoxemia with altered gas exchange to acute respiratory distress syndrome (ARDS), with variable severity. Similar to other end-organ dysfunction after cardiac surgery with extracorporeal circulation, pulmonary complications are attributed to the inflammatory response, ischemia-reperfusion injury, and reactive oxygen species liberated as a result of cardiopulmonary bypass. Several factors common in cardiac surgery with extracorporeal circulation may worsen the risk of pulmonary complications including atelectasis, transfusion requirement, older age, heart failure, emergency surgery, and prolonged duration of bypass...
June 2015: Best Practice & Research. Clinical Anaesthesiology
Amerigo Vitagliano, Marco Noventa, Michela Quaranta, Salvatore Gizzo
The aim of the study was to analyze all the available evidence from both in vitro and in vivo studies regarding the efficacy of statin therapy in the treatment of endometriosis, evaluating the potential efficacy, side effects, and contraindications of their administration in humans. We focused on defining the potential benefits that the administration of statins may have on patients affected by endometriosis and the possible adverse effects of such a therapy on ovarian function and fertility profile. According to our article selection criteria, we included in the review in vitro and in vivo studies performed on human or animal models...
April 2016: Reproductive Sciences
Rodrigo Badotti Antunes, Anderson Aparecido Camilo, Airton Moreira da Silva, Jorge Vicente Lopes da Silva, Nivaldo Alonso
OBJECTIVES: The objective of this study was to evaluate the variation of the orbital volume and the correlation with the magnitude of craniofacial advances as well as demonstrate its effectiveness through comparisons with normal levels of orbital volumes. INTRODUCTION: Syndromic craniofacial synostosis is characterized by cranial morphological alterations and hypoplasia of the midface that may result in obstructive sleep apnea and exorbitism; these effects are indications of surgical treatment...
May 2015: Journal of Craniofacial Surgery
Yoko Kawakami, Katsuya Endo, Tomonori Ishii, Sho Haneda, Fumiyoshi Fujishima, Yoichi Kakuta, Hisashi Shiga, Yoshitaka Kinouchi, Tooru Shimosegawa
INTRODUCTION: Mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome is a rare overlap syndrome that includes features characteristic of both Behçet's disease (BD) and relapsing polychondritis (RP). CASE DESCRIPTION: A 30-year-old female complained of lower abdominal pain and bloody stools during medical treatment for RP. Total colonoscopy revealed oval-shaped deep ulcers on the terminal ileum similar to those of intestinal BD. After performing the ileocecal resection, both RP and gastrointestinal lesions relapsed, but improved with infliximab treatment...
2014: SpringerPlus
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