keyword
MENU ▼
Read by QxMD icon Read
search

Lowe Syndrome

keyword
https://www.readbyqxmd.com/read/27914067/5q-syndrome-like-features-as-the-first-manifestation-of-myelodysplastic-syndrome-in-a-patient-with-an-unbalanced-whole-arm-translocation-der-5-19-p10-q10
#1
Hiroshi Ureshino, Haruna Kizuka, Kana Kusaba, Haruhiko Sano, Atsujiro Nishioka, Takero Shindo, Yasushi Kubota, Toshihiko Ando, Kensuke Kojima, Shinya Kimura
Derivative (5;19)(p10;q10) [der(5;19)(p10;q10)] is a rare chromosomal abnormality in myelodysplastic syndrome (MDS), and is genetically similar to deletion 5q [del(5q)]. However, MDS with der(5;19)(p10;q10) and 5q- syndrome are generally characterized as distinct subtypes. Here, we report a case of a patient with 5q- syndrome-like features as the first manifestation of MDS with der(5; 19)(p10;q10). A 59-year-old woman was admitted to our hospital for anemia without leukopenia and thrombocytopenia. She had received chemotherapy comprising carboplatin and docetaxel for endometrial cancer eight years before...
December 2, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27913904/association-between-brain-structural-anomalies-electroencephalogram-and-history-of-seizures-in-mucopolysaccharidosis-type-ii-hunter-syndrome
#2
Ramón Ernesto Jiménez-Arredondo, Aniel Jessica Leticia Brambila-Tapia, Francisco Miguel Mercado-Silva, Martha Ortiz-Aranda, Verónica Benites-Godinez, Graciela Olmos-García-de-Alba, Luis Eduardo Figuera
Mucopolysaccharidosis type II or Hunter syndrome (MPS II) is a genetic disease that can course with intellectual impairment and central nervous system (CNS) alterations. To date, no report has documented electroencephalogram (EEG) measures associated with CNS alterations, detected by imaging studies, and the history of seizures in patients with MPS II. Therefore, we decided to search this association. We included 9 patients with MPS II and performed imaging studies of the brain to detect the presence of cortico-subcortical atrophy, enlarged subarachnoid space and supratentorial ventricular size...
December 2, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27913748/a-3-year-follow-up-of-a-patient-with-acute-renal-failure-caused-by-thrombotic-microangiopathy-related-to-antiphospholipid-syndrome-case-report
#3
X-J Zhou, M Chen, S-X Wang, F-D Zhou, M-H Zhao
BACKGROUND: Microvascular manifestations of antiphospholipid antibody syndrome in the kidneys include acute renal failure, thrombotic microangiopathy and hypertension. Therapy has been largely empiric. CASE REPORT: A 49-year-old Chinese man presented with anuric acute renal failure without abundant proteinuria and heavy haematuria, but markedly low levels of urinary sodium, potassium and chlorine upon admission. On day 1 of hospitalization, his thrombocytopenia, anaemia and renal failure showed rapid progression...
December 2, 2016: Lupus
https://www.readbyqxmd.com/read/27913534/myelodysplastic-and-myeloproliferative-disorders-of-childhood
#4
Henrik Hasle
Myelodysplastic syndrome (MDS) and myeloproliferative disorders are rare in children; they are divided into low-grade MDS (refractory cytopenia of childhood [RCC]), advanced MDS (refractory anemia with excess blasts in transformation), and juvenile myelomonocytic leukemia (JMML), each with different characteristics and management strategies. Underlying genetic predisposition is recognized in an increasing number of patients. Germ line GATA2 mutation is found in 70% of adolescents with MDS and monosomy 7. It is challenging to distinguish RCC from aplastic anemia, inherited bone marrow failure, and reactive conditions...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913517/treatment-of-low-risk-myelodysplastic-syndromes
#5
Valeria Santini
The majority of myelodysplastic syndrome (MDS) patients belong to the International Prognostic Scoring System (IPSS) and IPSS-revised (IPSS-R) lower-risk categories. Their precise diagnostics and prognostic stratification is often a challenge, but may ensure the optimization of therapy. The availability of diverse treatment options has significantly improved the quality of life and survival of this group of patients. Anemia is the most relevant cytopenia in terms of frequency and symptoms in lower-risk MDS, and may be treated successfully with erythropoietic stimulating agents, provided a careful selection is performed on the basis of IPSS-R, endogenous erythropoietin levels, and transfusion independence...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913509/the-post-thrombotic-syndrome
#6
Susan R Kahn
The post-thrombotic syndrome (PTS) is a frequent, sometimes disabling complication of deep vein thrombosis (DVT) that reduces quality of life and is costly. This article discusses risk factors for PTS after DVT and available means to prevent and treat PTS, with a focus on new information in the field. After DVT, PTS will develop in 20% to 50% of patients, and severe PTS, including venous ulcers, will develop in 5% to 10%. The principal risk factors for PTS are anatomically extensive DVT, recurrent ipsilateral DVT, persistent leg symptoms 1 month after acute DVT, obesity, and older age...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#7
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27912959/chinese-herbal-medicine-kuntai-capsule-for-treatment-of-menopausal-syndrome-a-systematic-review-of-randomized-clinical-trials
#8
REVIEW
Quan Zhou, Jing Tao, Huamei Song, Aihua Chen, Huaijie Yang, Manzhen Zuo, Hairong Li
OBJECTIVES: Kuntai capsule has been widely used for the treatment of menopausal syndrome in China for long time. We conducted this review to assess efficacy and safety of Kuntai capsule for the treatment of menopausal syndrome. METHODS: We searched studies in PubMed, ClinicalTrials, the Cochrane Library, China National Knowledge Infrastructure Database(CNKI), China Science and Technology Journal Database (VIP), Wan fang Database and Chinese Biomedical Literature Database(CBM) until November 20, 2014...
December 2016: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/27912733/the-effect-of-percutaneous-coronary-intervention-on-habitual-physical-activity-in-older-patients
#9
Sarah J Charman, Vincent T van Hees, Louise Quinn, Joseph R Dunford, Bilal Bawamia, Murugapathy Veerasamy, Michael I Trenell, Djordje G Jakovljevic, Vijay Kunadian
BACKGROUND: Given the ongoing burden of cardiovascular disease and an ageing population, physical activity in patients with coronary artery disease needs to be emphasized. This study assessed whether sedentary behaviour and physical activity levels differed among older patients (≥75 years) following percutaneous coronary intervention (PCI) for acute coronary syndrome (ACS) consisting of ST-segment elevation myocardial infarction (STEMI) and non STEMI (NSTEMI) versus an elective admission control group of stable angina patients...
December 3, 2016: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/27911934/efficacy-of-noninvasive-stellate-ganglion-blockade-performed-using-physical-agent-modalities-in-patients-with-sympathetic-hyperactivity-associated-disorders-a-systematic-review-and-meta-analysis
#10
Chun-De Liao, Jau-Yih Tsauo, Tsan-Hon Liou, Hung-Chou Chen, Chi-Lun Rau
BACKGROUND: Stellate ganglion blockade (SGB) is mainly used to relieve symptoms of neuropathic pain in conditions such as complex regional pain syndrome and has several potential complications. Noninvasive SGB performed using physical agent modalities (PAMs), such as light irradiation and electrical stimulation, can be clinically used as an alternative to conventional invasive SGB. However, its application protocols vary and its clinical efficacy remains controversial. This study investigated the use of noninvasive SGB for managing neuropathic pain or other disorders associated with sympathetic hyperactivity...
2016: PloS One
https://www.readbyqxmd.com/read/27910718/substituting-poly-and-mono-unsaturated-fat-for-dietary-carbohydrate-reduces-hyperinsulinemia-in-women-with-polycystic-ovary-syndrome
#11
Dalia Perelman, Nicole Coghlan, Cindy Lamendola, Susan Carter, Fahim Abbasi, Tracey McLaughlin
OBJECTIVE: Hyperinsulinemia is a prevalent feature of polycystic ovary syndrome (PCOS), contributing to metabolic and reproductive manifestations of the syndrome. Weight loss reduces hyperinsulinemia but weight regain is the norm, thus preventing long-term benefits. In the absence of weight loss, replacement of dietary carbohydrate (CHO) with mono/polyunsaturated fat reduces ambient insulin concentrations in non-PCOS subjects. The current study evaluated whether this dietary intervention could ameliorate hyperinsulinemia in women with PCOS...
December 2, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27909693/unfractionated-and-low-molecular-weight-heparin-and-the-phosphodiesterase-inhibitors-ibmx-and-cilostazol-block-ex-vivo-equid-herpesvirus-type-1-induced-platelet-activation
#12
Tracy Stokol, Priscila B D Serpa, Muhammad N Zahid, Marjory B Brooks
Equid herpes virus type-1 (EHV-1) is a major pathogen of horses, causing abortion storms and outbreaks of herpes virus myeloencephalopathy. These clinical syndromes are partly attributed to ischemic injury from thrombosis in placental and spinal vessels. The mechanism of thrombosis in affected horses is unknown. We have previously shown that EHV-1 activates platelets through virus-associated tissue factor-initiated thrombin generation. Activated platelets participate in thrombus formation by providing a surface to localize coagulation factor complexes that amplify and propagate thrombin generation...
2016: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/27909513/assessment-of-sinoatrial-node-function-in-patients-with-persistent-and-long-standing-persistent-forms-of-atrial-fibrillation-after-maze-iii-procedure-combined-with-mitral-valve-operation
#13
Kulikov Aleksei A, Bokeria Leo A
RESEARCH OBJECTIVE: Assessment of sinoatrial node function after Maze III procedure combined with a mitral valve operation. METHODS: 100 patients were included in the research with persistent and long-standing persistent forms of atrial fibrillation (AF) and need of operative treatment concerning valve disease. The following preoperative preparation methods were executed to all patients: Electrocardiogram in 12 standard assignments;Two-dimensional echocardiographic with assessment of systolic and diastolic functions of the left ventricle, size of the left atrium and grade of valve disease;Transesophageal echocardiography for exclusion of blood clots in the left atrium and left atrial appendage;Coronary angiography for exclusion of coronary heart disease;Computer tomography for examination of cardiac chambers and anatomic characteristics of pulmonary veins...
June 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27909085/a-negative-antinuclear-antibody-does-not-indicate-autoantibody-negativity-in-myositis-role-of-anticytoplasmic-antibody-as-a-screening-test-for-antisynthetase-syndrome
#14
Rohit Aggarwal, Namrata Dhillon, Noreen Fertig, Diane Koontz, Zengbiao Qi, Chester V Oddis
OBJECTIVE: To evaluate the utility of anticytoplasmic autoantibody (anti-CytAb) in antisynthetase antibody-positive (anti-SynAb+) patients. METHODS: Anti-SynAb+ patients were evaluated for antinuclear antibody (ANA) and anti-CytAb [cytoplasmic staining on indirect immunofluorescence (IIF)] positivity. Anti-SynAb+ patients included those possessing anti-Jo1 and other antisynthetase autoantibodies. Control groups included scleroderma, systemic lupus erythematosus, Sjögren syndrome, rheumatoid arthritis, and healthy subjects...
December 1, 2016: Journal of Rheumatology
https://www.readbyqxmd.com/read/27908883/association-between-cognitive-complaints-and-vulnerability-to-environmental-distraction-in-multiple-sclerosis
#15
John J Randolph, Jennifer S Randolph, Heather A Wishart
OBJECTIVE: Individuals with multiple sclerosis (MS) often report cognitive dysfunction, although neuropsychological evaluation findings may not correlate with subjective concerns. One factor that may explain this lack of correspondence is the controlled testing environment, which differs from busier settings where cognitive lapses are noted to occur. This study used a novel environmental manipulation to determine whether individuals with MS who report cognitive dysfunction are more vulnerable to the effects of auditory distraction during neuropsychological testing...
December 1, 2016: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/27908630/non-linear-dose-response-of-aluminium-hydroxide-adjuvant-particles-selective-low-dose-neurotoxicity
#16
Guillemette Crépeaux, Housam Eidi, Marie-Odile David, Yasmine Baba-Amer, Eleni Tzavara, Bruno Giros, François-Jérôme Authier, Christopher Exley, Christopher A Shaw, Josette Cadusseau, Romain K Gherardi
Aluminium (Al) oxyhydroxide (Alhydrogel(®)), the main adjuvant licensed for human and animal vaccines, consists of primary nanoparticles that spontaneously agglomerate. Concerns about its safety emerged following recognition of its unexpectedly long-lasting biopersistence within immune cells in some individuals, and reports of chronic fatigue syndrome, cognitive dysfunction, myalgia, dysautonomia and autoimmune/inflammatory features temporally linked to multiple Al-containing vaccine administrations. Mouse experiments have documented its capture and slow transportation by monocyte-lineage cells from the injected muscle to lymphoid organs and eventually the brain...
November 28, 2016: Toxicology
https://www.readbyqxmd.com/read/27908400/low-hepatic-copper-content-and-pnpla3-polymorphism-in-non-alcoholic-fatty-liver-disease-in-patients-without-metabolic-syndrome
#17
Albert Friedrich Stättermayer, Stefan Traussnigg, Elmar Aigner, Christian Kienbacher, Ursula Huber-Schönauer, Petra Steindl-Munda, Andreas Stadlmayr, Friedrich Wrba, Michael Trauner, Christian Datz, Peter Ferenci
INTRODUCTION: The pathogenesis of non-alcoholic fatty liver disease (NAFLD) is multifactorial including metabolic, genetic (e.g. PNPLA3 [patatin-like phospholipase domain-containing 3 gene]), viral factors and drugs. Besides, there is evidence for a role of copper deficiency. Aim of the study was to evaluate the role of hepatic copper content, PNPLA3 in NAFLD patients with and without metabolic syndrome (MetS). METHODS: One-hundred seventy-four NAFLD patients, who underwent liver biopsy for diagnostic work-up, were studied...
January 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/27908266/is-metformin-a-perfect-drug-updates-in-pharmacokinetics-and-pharmacodynamics
#18
Magdalena Markowicz-Piasecka, Kristiina Maria Huttunen, Łukasz Mateusiak, Elżbieta Mikiciuk-Olasik, Joanna Sikora
Metformin, a synthetic biguanide, is currently one of the most frequently recommended medications for type 2 diabetes treatment around the world. In this review, we present the latest discoveries in the pharmacokinetics of metformin, especially the role of transporters (e.g. Organic Cation Transporters OCTs, Multidrug and Toxin Extrusion transporters MATE) in oral absorption, distribution, elimination and biochemical effects of metformin in humans. We also review the associations between genetic variations of metformin transporters, their pharmacokinetics and drug efficacy or drug responses...
December 1, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27908213/determinants-of-low-bone-mineral-density-in-premenopausal-polycystic-ovary-syndrome-patients
#19
Cihan Karadağ, Tevfik Yoldemir, Dilek Gogas Yavuz
OBJECTIVE: The aim of this study was to evaluate the bone mineral density (BMD) values and to determine the associations between BMD and insulin sensitivity, hyperandrogenemia, body mass index (BMI), and sex hormones in premenopausal polycystic ovary syndrome (PCOS) patients. METHODS: A hundred and three women with PCOS and sixty age- and BMI-matched healthy control women were enrolled to this cross-sectional study. Serum androgen and estradiol (E2) levels were measured...
December 2, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27908212/are-crh-ngf-as-psychoneuroimmune-regulators-in-women-with-polycystic-ovary-syndrome
#20
F Z Zangeneh, M M Naghizadeh, M Bagheri, M Jafarabadi
PURPOSE: Polycystic ovary syndrome (PCOS) affects quality of life and can worsen anxiety and depression either due to the features of PCOS or due to the diagnosis of a chronic disease. Corticotrophin-releasing hormone (CRH) and nerves growth factor (NGF) are the modulator for the actions of the sympathetic nervous and immune systems. METHODS: In total, 171 women divided into two groups: study and control groups. Serum CRH, NGF, and interleukins: IL-1α. IL-1β, 17A, and TNFα were determined by ELISA Kits in both groups...
December 2, 2016: Gynecological Endocrinology
keyword
keyword
23716
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"