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Adult still's disease

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https://www.readbyqxmd.com/read/27920871/suprasellar-pilocytic-astrocytoma-in-an-adult-with-hemorrhage-and-leptomeningeal-dissemination-case-report-and-review-of-literature
#1
Radwa K Soliman, Caterina Budai, Pravin Mundada, Bakar Aljohani, Elisabeth J Rushing, Spyros S Kollias
Pilocytic astrocytoma (PA) is a low-grade tumor. It has an excellent prognosis after total resection. Leptomeningeal dissemination and hemorrhage are very rare to be associated with PA and lead to unfavorable prognosis. A 35-year-old man was diagnosed with a hemorrhagic suprasellar PA in 2006. Subsequent examination in 2007 revealed another large subdural hemorrhagic lesion in the sacral region, which proved to be PA by histopathologic assessment. Other leptomeningeal foci were discovered mainly at the craniocervical junction...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27920870/pyle-disease-metaphyseal-dysplasia-presenting-in-two-adult-sisters
#2
Diego Ximenes Soares, Amália Mapurunga Almeida, André Rodrigues Façanha Barreto, Ilze Jucá Alencar E Silva, José Daniel Vieira de Castro, Francisco José Magalhães Pinto, Daniel Aguiar Dias, Lindenberg Barbosa Aguiar
Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu valgum. Laboratory tests showed no other relevant findings. Conventional radiography plain films revealed Erlenmeyer flask deformity in bilateral femorotibial metaphyses, metaphyseal flaring of long bones, and mild sclerosis of the skull base...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27918072/fgf-suppresses-poldip2-expression-in-osteoblasts
#3
Sakie Katsumura, Yayoi Izu, Takayuki Yamada, Kathy Griendling, Kiyoshi Harada, Masaki Noda, Yoichi Ezura
Osteoporosis is one of the most prevalent ageing-associated diseases that are soaring in the modern world. Although various aspects of the disease have been investigated to understand the bases of osteoporosis, the pathophysiological mechanisms underlying bone loss is still incompletely understood. Poldip2 is a molecule that has been shown to be involved in cell migration of vascular cells and angiogenesis. However, expression of Poldip2 and its regulation in bone cells were not known. Therefore, we examined the Poldip2 mRNA expression and the effects of bone regulators on the Poldip2 expression in osteoblasts...
December 5, 2016: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/27916144/non-communicable-diseases-at-a-regional-hospital-in-nepal-findings-of-a-high-burden-of-alcohol-related-disease
#4
M S Amundsen, T M G Kirkeby, S Giri, R Koju, S S Krishna, B Ystgaard, E Solligård, K Risnes
Recent global burden of disease reports find that a major proportion of global deaths and disability worldwide can be attributed to alcohol use. Thus, it may be surprising that very few studies have reported on the burden of alcohol-related disease in low income settings. The evidence of non-communicable disease (NCD) burden in Nepal was recently reviewed and concluded that data is still lacking, particularly to describe the burden of alcohol-related diseases (ARDs). Therefore, here we report on NCD burden and specifically ARDs, in hospitalized patients at a regional hospital in Nepal...
December 2016: Alcohol
https://www.readbyqxmd.com/read/27915164/can-the-cerebral-regional-oxygen-saturation-be-a-perfusion-parameter-in-shock
#5
Ashraf Al Tayar, Amr Abouelela, Khaja Mohiuddeen
INTRODUCTION: Shock, defined as a state of tissue hypoperfusion and the tissues reperfusion, is the main goal of management of shock. Increase in central venous saturation (CvSo2) and decrease in blood lactate level are useful in assessment of adequacy of tissue perfusion. Near-infrared spectroscopy is a noninvasive way to observe real-time changes in regional cerebral saturation and has been used in patients with different brain diseases. There is a small body of literature suggesting that cerebral regional oxygen saturation (CrSo2) monitoring added a value in assessment and management of intensive care unit (ICU) patients...
November 10, 2016: Journal of Critical Care
https://www.readbyqxmd.com/read/27914684/sickle-cell-disease-in-the-older-adult
#6
REVIEW
Mya S Thein, Norris E Igbineweka, Swee Lay Thein
Sickle cell disease (SCD) is an inherited haemoglobin disorder, associated with recurrent painful episodes, ongoing haemolytic anaemia and progressive multi-organ damage. Until the early 1990s, survival beyond the fourth decade for a patient with SCD was considered unusual and prompted case reports. Nowadays, in countries with developed health care systems, more than 90 percent of newborns with SCD survive into adulthood. Nevertheless, their life expectancy is still shortened by more than two decades compared to the general population...
November 30, 2016: Pathology
https://www.readbyqxmd.com/read/27913502/mrd-in-aml-does-it-already-guide-therapy-decision-making
#7
Gert Ossenkoppele, Gerrit Jan Schuurhuis
Prognostic factors determined at diagnosis are predictive for outcome whereas achievement of morphological complete remission (CR) is still an important end point during treatment. Residual disease after therapy may reflect the sum of all diagnosis and postdiagnosis resistance mechanisms/factors; its measurement could hypothetically be very instrumental for guiding treatment. The possibility of defining residual disease (minimal residual disease [MRD]) far below the level of 5% blast cells is changing the landscape of risk classification...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27909201/infarct-pattern-and-collateral-status-in-adult-moyamoya-disease-a-multimodal-magnetic-resonance-imaging-study
#8
Dong Yeop Kim, Jeong Pyo Son, Je Young Yeon, Gyeong-Moon Kim, Jong-Soo Kim, Seung-Chyul Hong, Oh Young Bang
BACKGROUND AND PURPOSE: Moyamoya disease (MMD) is a unique cerebrovascular disease characterized by the progressive stenosis of large intracranial arteries and a hazy network of basal collaterals, called moyamoya vessels. Although hemodynamic studies have been applied in MMD patients, the mechanisms of stroke in MMD are still unclear. The present study evaluated the infarct pattern and collateral status using multimodal magnetic resonance imaging in MMD patients. METHODS: Adult MMD patients with acute ischemic stroke were prospectively recruited, and infarct pattern on diffusion-weighted imaging was evaluated...
December 1, 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27904930/micrornas-in-bone-diseases
#9
REVIEW
L Gennari, S Bianciardi, D Merlotti
MicroRNAs are small, noncoding single-stranded RNAs that have emerged as important posttranscriptional regulators of gene expression, with an essential role in vertebrate development and different biological processes. This review highlights the recent advances in the function of miRNAs and their roles in bone remodeling and bone diseases. MicroRNAs (miRNAs) are a class of small (∼22 nt), noncoding single-stranded RNAs that have emerged as important posttranscriptional regulators of gene expression. They are essential for vertebrate development and play critical roles in different biological processes related to cell differentiation, activity, metabolism, and apoptosis...
November 30, 2016: Osteoporosis International
https://www.readbyqxmd.com/read/27903264/adult-onset-still-s-disease-evaluation-of-prognostic-tools-and-validation-of-the-systemic-score-by-analysis-of-100-cases-from-three-centers
#10
Piero Ruscitti, Paola Cipriani, Francesco Masedu, Daniela Iacono, Francesco Ciccia, Vasiliki Liakouli, Giuliana Guggino, Francesco Carubbi, Onorina Berardicurti, Paola Di Benedetto, Marco Valenti, Giovanni Triolo, Gabriele Valentini, Roberto Giacomelli
BACKGROUND: Adult-onset Still's disease (AOSD) is rare inflammatory disease of unknown etiology that usually affects young adults. The more common clinical manifestations are spiking fevers, arthritis, evanescent rash, elevated liver enzymes, lymphadenopathy, hepatosplenomegaly, and serositis. The multi-visceral involvement of the disease and the different complications, such as macrophage activation syndrome, may strongly decrease the life expectancy of AOSD patients. METHODS: This study aimed to identify the positive and negative features correlated with the outcome of patients...
December 1, 2016: BMC Medicine
https://www.readbyqxmd.com/read/27898441/epidemiology-of-myopia
#11
Pei-Chang Wu, Hsiu-Mei Huang, Hun-Ju Yu, Po-Chiung Fang, Chueh-Tan Chen
Myopia is not a simple refractive error, but an eyesight-threatening disease. There is a high prevalence of myopia, 80% to 90%, in young adults in East Asia; myopia has become the leading cause of blindness in this area. As the myopic population increases globally, the severity of its impact is predicted. Approximately one fifth of the myopic population has high myopia (≥-6 diopters), which results in irreversible vision loss such as retinal detachment, choroidal neovascularization, cataracts, glaucoma, and macular atrophy...
November 2016: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/27897982/maternal-fructose-intake-affects-transcriptome-changes-and-programmed-hypertension-in-offspring-in-later-life
#12
REVIEW
You-Lin Tain, Julie Y H Chan, Chien-Ning Hsu
Hypertension originates from early-life insults by so-called "developmental origins of health and disease" (DOHaD). Studies performed in the previous few decades indicate that fructose consumption is associated with an increase in hypertension rate. It is emerging field that tends to unfold the nutrient-gene interactions of maternal high-fructose (HF) intake on the offspring which links renal programming to programmed hypertension. Reprogramming interventions counteract disturbed nutrient-gene interactions induced by maternal HF intake and exert protective effects against developmentally programmed hypertension...
November 25, 2016: Nutrients
https://www.readbyqxmd.com/read/27894223/-oncology-medications-prescription-in-a-cancer-service-appropriateness-to-clinical-practice-guidelines
#13
Valeria Palchik, María Luz Traverso, Marisel Colautti, Mariela Bianchi, Lucía Dolza, José María Catena, Mercedes Salamano
OBJECTIVE: To assess prescription of oncology medications in municipal public health network of Rosario for its appropriateness to clinical practice guidelines. METHODS: Descriptive pharmacoepidemiological study in adult patients in an Oncology Service between January and June 2012. Compliance requirements with clinical practice guidelines were evaluated. RESULTS: 51.8% of diagnoses had at least one prescription medication that did not match recommendation by at least one of the guides considered...
November 1, 2016: Farmacia Hospitalaria
https://www.readbyqxmd.com/read/27893360/vaccine-preventable-diseases-in-pediatric-patients-a-review-of-measles-mumps-rubella-and-varicella
#14
Deborah A Levine
Vaccine-preventable diseases such as measles, mumps, rubella, and varicella continue to plague children and adults worldwide. Although public health programs have helped decrease the prevalence and sequelae of these diseases, outbreaks still occur. To limit the spread of these diseases, emergency clinicians must be able to readily identify the characteristic presentations of the rashes associated with measles, rubella, and varicella, as well as the common presenting features associated with mumps. Diagnostic laboratory studies are not usually necessary, as a complete history and physical examination usually lead to an accurate diagnosis...
December 2016: Pediatric Emergency Medicine Practice
https://www.readbyqxmd.com/read/27890680/the-putative-role-of-maldi-msi-in-the-study-of-membranous-nephropathy
#15
Andrew Smith, Vincenzo L'Imperio, Elena Ajello, Franco Ferrario, Niccolò Mosele, Martina Stella, Manuel Galli, Clizia Chinello, Federico Pieruzzi, Goce Spasovski, Fabio Pagni, Fulvio Magni
Membranous Nephropathy (MN) is an immunocomplex mediated renal disease that represents the leading cause of nephrotic syndrome in adults and is one of the most frequent glomerulopathies worldwide. This glomerular disease can manifest as primary (idiopathic) or secondary and this distinction is crucial when choosing the most appropriate management of patients. In secondary cases, the best strategy consists in treating the underlying disease whereas in primary forms, the possible identification of confirmatory markers of the idiopathic etiology underlining the process is requested by clinicians...
November 23, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27890252/aml-in-2016-where-we-are-now
#16
REVIEW
Jacob M Rowe
A high relapse rate for patients with acute myeloid leukemia (AML) is still a major barrier to the long-term survival of these patients. Nevertheless, considerable progress has been made both in the biology and therapy of the disease. Specifically, progress has been made in the areas of integrated genomic analysis for prognosis, the widening application of minimal residual disease (MRD) monitoring in clinical practice, the development of new agents, and the increasing use of drugs, such as IDH and FLT3 inhibitors, as a bridge to transplant...
December 2016: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/27888598/adult-onset-still-s-disease-with-different-antibodies-a-case-report-and-review-of-literature
#17
Maryam Mobini, Roya Ghasemian, Fatemeh Zameni
 Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder of unknown etiology. There is not currently any specific serological markers for AOSD , and  diagnosis still relying on the exclusion of other likely diagnoses. Yamaguchi's criteria are used as a diagnostic criterion which contains negative serologic markers for other collagen vascular diseases including systemic lupus erythematosus and rheumatoid arthritis. Here we report a 28-year-old woman with arthralgia, fever, rash, leukocytosis, lymphadenopathy, sore throat, abnormal liver function and negative rheumatoid factor and ANA but  seropositive for anti-CCP, anti-dsDNA, and C-ANCA...
October 2016: Acta Medica Iranica
https://www.readbyqxmd.com/read/27886796/adult-onset-still-s-disease-advances-in-the-treatment
#18
REVIEW
Santos Castañeda, Ricardo Blanco, Miguel A González-Gay
Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder mainly characterized by persistent high spiking fevers, evanescent rash, and joint involvement. The pathogenesis of AOSD is only partially known, but pro-inflammatory cytokines such as tumor necrosis factor (TNF)-α, interleukin (IL)-1, IL-6, IL-18, and IFN-γ seem to play a major role in this disorder. AOSD is at the crossroad of auto-inflammatory syndromes and autoimmune diseases. It is diagnosed by exclusion to determine the presence of high serum ferritin levels, which is usually >1000 μg/L...
April 2016: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/27886132/the-future-is-the-past-methylation-qtls-in-schizophrenia
#19
REVIEW
Anke Hoffmann, Michael Ziller, Dietmar Spengler
Genome-wide association studies (GWAS) have remarkably advanced insight into the genetic basis of schizophrenia (SCZ). Still, most of the functional variance in disease risk remains unexplained. Hence, there is a growing need to map genetic variability-to-genes-to-functions for understanding the pathophysiology of SCZ and the development of better treatments. Genetic variation can regulate various cellular functions including DNA methylation, an epigenetic mark with important roles in transcription and the mediation of environmental influences...
November 24, 2016: Genes
https://www.readbyqxmd.com/read/27881166/using-the-social-amoeba-dictyostelium-to-study-the-functions-of-proteins-linked-to-neuronal-ceroid-lipofuscinosis
#20
REVIEW
Robert J Huber
Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, is a debilitating neurological disorder that affects both children and adults. Thirteen genetically distinct genes have been identified that when mutated, result in abnormal lysosomal function and an excessive accumulation of ceroid lipofuscin in neurons, as well as other cell types outside of the central nervous system. The NCL family of proteins is comprised of lysosomal enzymes (PPT1/CLN1, TPP1/CLN2, CTSD/CLN10, CTSF/CLN13), proteins that peripherally associate with membranes (DNAJC5/CLN4, KCTD7/CLN14), a soluble lysosomal protein (CLN5), a protein present in the secretory pathway (PGRN/CLN11), and several proteins that display different subcellular localizations (CLN3, CLN6, MFSD8/CLN7, CLN8, ATP13A2/CLN12)...
November 24, 2016: Journal of Biomedical Science
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