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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/27914063/episweep-computationally-driven-reengineering-of-therapeutic-proteins-to-reduce-immunogenicity-while-maintaining-function
#2
Yoonjoo Choi, Deeptak Verma, Karl E Griswold, Chris Bailey-Kellogg
Therapeutic proteins are yielding ever more advanced and efficacious new drugs, but the biological origins of these highly effective therapeutics render them subject to immune surveillance within the patient's body. When recognized by the immune system as a foreign agent, protein drugs elicit a coordinated response that can manifest a range of clinical complications including rapid drug clearance, loss of functionality and efficacy, delayed infusion-like allergic reactions, more serious anaphylactic shock, and even induced auto-immunity...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27913754/neurological-manifestations-in-children-with-dengue-fever-an-indian-perspective
#3
Archan Sil, Tamoghna Biswas, Moumita Samanta, Mithun Chandra Konar, Arun Kumar De, Jasodhara Chaudhuri
Ours was a descriptive observational cross-sectional study carried out in a tertiary care hospital in eastern India over a period of one year to study the profile of neurological involvement in paediatric dengue patients. Of 71 laboratory-confirmed cases, 20 (28.17%) had neurological involvement. Common forms observed were acute encephalopathy (40%), encephalitis (30%), pure motor weakness (15%), transverse myelitis (5%), acute disseminated encephalomyelitis (5%) and Guillain-Barré syndrome (5%). The dengue IgM antibody could be detected in the cerebrospinal fluid of only two patients with encephalitis...
December 2, 2016: Tropical Doctor
https://www.readbyqxmd.com/read/27913749/belimumab-in-primary-antiphospholipid-syndrome
#4
A Yazici, B Yazirli, D Erkan
Antiphospholipid syndrome (APS) is an autoimmune disease characterized by thrombosis and/or pregnancy morbidity with persistently positive antiphospholipid antibodies (aPL). Patients with aPL may also experience thrombocytopenia, cardiac valve disease, nephropathy, skin ulcer, or cognitive dysfunction, which are collectively known as non-criteria manifestations of APS. A description is provided of two primary APS patients who received belimumab (10 mg/kg) for an aPL-related manifestation.
December 2, 2016: Lupus
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
#5
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/27913710/lessons-learned-from-35-cases-of-laryngeal-foreign-bodies-undergoing-misdiagnosis-in-pediatric-population
#6
Qingguo Chen, Hanqi Chu, Yanling Tao, Hongyan Huang, Liyan Peng
OBJECTIVES: To present 35 cases of laryngeal foreign bodies (FBs) in pediatric population undergoing misdiagnosis so as to draw on our lessons to improve early diagnosis. METHODS: A retrospective analysis over 15 years was conducted of 35 cases of laryngeal FBs undergoing misdiagnosis in children. Meanwhile, a control group, including 42 cases of laryngeal FBs without misdiagnosis in children, was set. These patients' clinical data were collected and analyzed to identify the risk factors for misdiagnosis...
December 2, 2016: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/27913686/micrognathia-in-mouse-models-of-ciliopathies
#7
REVIEW
Hadeel Adel Al-Lami, William B Barrell, Karen J Liu
Defects in the development of the mandible can lead to micrognathia, or small jaw, which manifests in ciliopathic conditions, such as orofaciodigital syndrome, Meckel-Gruber syndrome, and Bardet-Biedl syndrome. Although micrognathia occurs frequently in human and mouse ciliopathies, it has been difficult to pinpoint the underlying cellular causes. In this mini-review, we shed light on the tissue-specific contributions to ciliary dysfunction in the development of the mandible. First, we outline the steps involved in setting up the jaw primordium and subsequent steps in the outgrowth of the mandibular skeleton...
December 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27913530/cytokine-release-syndrome-with-novel-therapeutics-for-acute-lymphoblastic-leukemia
#8
Noelle V Frey, David L Porter
T-cell-engaging immunotherapies are exciting new approaches to treat patients with acute lymphoblastic leukemia (ALL). These unique agents, which include blinatumomab, a CD3/CD19 bispecific antibody, and chimeric antigen receptor (CAR) modified T cells targeted to CD19 have shown unprecedented remission rates in the relapsed, refractory ALL setting. Cytokine release syndrome (CRS), resulting from the high magnitude of immune activation by these therapies, is the most significant treatment-related toxicity. CRS manifests with fever and malaise and can progress to life-threatening capillary leak with hypoxia and hypotension...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913494/introduction-to-cancer-genetic-susceptibility-syndromes
#9
Rose B McGee, Kim E Nichols
The last 30 years have witnessed tremendous advances in our understanding of the cancer genetic susceptibility syndromes, including those that predispose to hematopoietic malignancies. The identification and characterization of families affected by these syndromes is enhancing our knowledge of the oncologic and nononcologic manifestations associated with predisposing germ line mutations and providing insights into the underlying disease mechanisms. Here, we provide an overview of the cancer genetic susceptibility syndromes, focusing on aspects relevant to the evaluation of patients with leukemia and lymphoma...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913486/heavy-menstrual-bleeding-work-up-and-management
#10
Andra H James
Heavy menstrual bleeding (HMB), which is the preferred term for menorrhagia, affects ∼90% of women with an underlying bleeding disorder and ∼70% of women on anticoagulation. HMB can be predicted on the basis of clots of ≥1 inch diameter, low ferritin, and "flooding" (a change of pad or tampon more frequently than hourly). The goal of the work-up is to determine whether there is a uterine/endometrial cause, a disorder of ovulation, or a disorder of coagulation. HMB manifest by flooding and/or prolonged menses, or HMB accompanied by a personal or family history of bleeding is very suggestive of a bleeding disorder and should prompt a referral to a hematologist...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913461/primary-immune-deficiencies-with-defects-in-neutrophil-function
#11
Mary C Dinauer
Immune deficiencies resulting from inherited defects in neutrophil function have revealed important features of the innate immune response. Although sharing an increased susceptibility to bacterial and fungal infections, these disorders each have distinctive features in their clinical manifestations and characteristic microbial pathogens. This review provides an update on several genetic disorders with impaired neutrophil function, their pathogenesis, and treatment strategies. These include chronic granulomatous disease, which results from inactivating mutations in the superoxide-generating nicotinamide dinucleotide phosphate oxidase...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913400/incidence-risk-factors-and-outcome-of-life-threatening-ventricular-arrhythmias-in-giant-cell-myocarditis
#12
Kaj Ekström, Jukka Lehtonen, Riina Kandolin, Anne Räisänen-Sokolowski, Kaisa Salmenkivi, Markku Kupari
BACKGROUND: Ventricular tachyarrhythmias are characteristic of giant cell myocarditis, but their true incidence, predictors, and outcome are unknown. METHODS AND RESULTS: Our work involved 51 patients with giant cell myocarditis (35 women) aged 52±12 years. Their medical records were reviewed for history, results of laboratory and imaging studies, and occurrence of serious cardiac events, including life-threatening ventricular tachyarrhythmias. Sudden cardiac death (fatal or aborted) was the primary end point of our analyses, whereas the composite of sudden cardiac death and ventricular tachycardia requiring treatment constituted the secondary end point...
December 2016: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/27913252/sex-and-gender-differences-in-the-treatment-of-alzheimer-s-disease-a-systematic-review-of-randomized-controlled-trials
#13
Marco Canevelli, Federica Quarata, Francesca Remiddi, Flaminia Lucchini, Eleonora Lacorte, Nicola Vanacore, Giuseppe Bruno, Matteo Cesari
In recent years, epidemiological, clinical, and biological evidence has drawn the attention on the influence of sex and gender on Alzheimer's disease (AD). Nevertheless, not enough attention has been paid to their impact on treatment outcomes. The present study is aimed at systematically retrieve, review and discuss data coming from available randomized placebo-controlled trials (RCTs) on currently marketed treatments for AD (i.e., cholinesterase inhibitors [ChEIs] and memantine) in order to describe possible sex and gender differences in their efficacy, safety and tolerability...
November 29, 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/27913223/hepatitis-e-virus-infection-beyond-the-liver
#14
REVIEW
S Pischke, J Hartl, S D Pas, A W Lohse, B C Jacobs, A A van der Eijk
Hepatitis E virus (HEV) infections are not limited to the liver but may also affect other organs. Several diseases, including Guillain-Barré syndrome, neuralgic amyotrophy, glomerulonephritis, cryoglobulinemia, pancreatitis, lymphoma, thrombopenia, meningitis, thyreoiditis and myocarditis have been observed in the context of hepatitis E. To date the definite pathophysiological links between HEV and extrahepatic manifestations are not yet established. However, it is suggested that HEV-infection might be causative based on serological studies, case series, in vitro data and animal models...
November 29, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27913194/genetic-screening-of-thap1-in-primary-dystonia-patients-of-india
#15
Subhajit Giri, Tufan Naiya, Zaffar Equbal, Charulata Savant Sankhla, Shyamal Kumar Das, Kunal Ray, Jharna Ray
BACKGROUND: Primary Dystonia is a common movement disorder manifested by dystonic symptoms only. DYT6, a major genetic factor, plays a significant role in primary pure dystonia pathogenesis. In this study we analyzed THAP1 (DYT 6) gene in primary pure dystonia patients, which has been widely studied in other populations but not in Indians. METHODS: The study cohort contained 227 index primary pure dystonia patients with the involvement of cervical region and 254 neurologically control individuals collected from East Indian population...
November 29, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27913124/lower-expression-of-genes-involved-in-protection-against-oxidative-stress-in-symptomatic-carotid-atherosclerosis
#16
Nuria Zamora-González, Jesús Crespo-Sanjuán, M Dolores Calvo-Nieves, Diego Sánchez, M Dolores Ganfornina, Gerardo Martínez, Beatriz Aguirre-Gervás, J Antonio González-Fajardo
OBJECTIVE: Oxidative stress is increased in atherosclerosis, manifested both in blood and tissue (atherosclerotic plaque). We aim at describing the expression of a number of genes related to oxidative stress response in carotid atherosclerotic plaques and their relation to symtomatic state. MATERIALS AND METHODS: We have studied the mRNA expression levels for genes related to oxidative stress in a population of 44 patients undergoing carotid endarterectomy, according to the presence (24 patients) or absence (20 patients) of symptoms...
November 29, 2016: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/27913085/anti-n-methyl-d-aspartate-receptor-encephalitis-and-rasmussen-like-syndrome-an-association
#17
Kevin Gurcharran, Shefali Karkare
BACKGROUND: N-methyl-D-aspartate (NMDA) receptor encephalitis is an immune-mediated condition that has a broad spectrum of manifestations, including seizures, coma, psychosis, and focal neurological deficits. Although usually a diffuse process, unihemispheric involvement mimicking early stages of Rasmussen encephalitis can occur. Rasmussen's encephalitis is a unique syndrome characterized by progressive hemiplegia, drug-resistant focal epilepsy, cognitive decline, and hemispheric brain atrophy contralateral to the hemiplegia...
October 11, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27912949/seasonal-variations-of-prescriptions-for-the-major-syndrome-types-and-manifestations-of-upper-respiratory-tract-infection-in-tradition-chinese-medicine
#18
Yuh-Hsiang Yeh, Yiing-Jenq Chou, Nicole Huang, Christy Pu, Pesus Chou
OBJECTIVE: The aim of this study is to investigate the seasonal variations of prescriptions for the three most common syndrome types and the three major manifestations of upper respiratory infections (URIs) according to the theories of traditional Chinese medicine (TCM). DESIGN: This is a cross-sectional study. We examined a random sample comprising 1,000,000 beneficiaries from the National Health Insurance program in 2005. Primary diagnoses including International Classification of Diseases, Ninth Revision, Clinical Modification Codes 460-465 and 487 were regarded as URIs, for which 160,357 prescriptions of Chinese herbal medicine were analyzed...
December 2016: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/27912935/multi-dimensional-analysis-on-parkinson-s-disease-questionnaire-39-in-parkinson-s-patients-treated-with-bushen-huoxue-granule-a-multicenter-randomized-double-blinded-and-placebo-controlled-trial
#19
Min Li, Hui Ming Yang, Dong Xiao Luo, Jian Zong Chen, Heng Jun Shi
OBJECTIVES: To preliminarily assess the effects of Bushen Huoxue Granule (BHG) on Parkinson's Patients with Parkinson's Disease Questionnaire-39 (PDQ-39)and to provide data for further research. DESIGN: A randomized, double-blinded, placebo controlled study with a 3-month intervention period and a 6-month follow-up. INTERVENTIONS: Participants were patients with Parkinson's Disease (PD) of age ranging from 50 to 80 years and Hoehn and Yahr (H-Y) stage I-IV of the disease...
December 2016: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/27912864/clinical-and-epidemiological-aspects-of-scorpionism-in-the-world-a-systematic-review
#20
REVIEW
Maria S V Santos, Cláudio G L Silva, Basílio Silva Neto, Cícero R P Grangeiro Júnior, Victor H G Lopes, Antônio G Teixeira Júnior, Deryk A Bezerra, João V C P Luna, Josué B Cordeiro, Jucier Gonçalves Júnior, Marcos A P Lima
OBJECTIVE: Scorpion stings are registered worldwide, but the incidence and the features of the envenomations vary depending on the region. The aim of this review was to summarize the epidemiological, clinical, diagnostic, and therapeutic data worldwide regarding humans stung by scorpions. METHODS: A systematic review of the literature was conducted through the online databases of the Virtual Health Library (VHL), which hosts Medline and the Latin American and Caribbean Center on Health Sciences Informational (LILACS) database...
December 2016: Wilderness & Environmental Medicine
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