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Journal of Internal Medicine

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https://www.readbyqxmd.com/read/27926979/erythropoiesis-stimulating-agents-significantly-delay-the-onset-of-a-regular-transfusion-need-in-nontransfused-patients-with-lower-risk-myelodysplastic-syndrome
#1
H K G Garelius, W T Johnston, A G Smith, S Park, L de Swart, P Fenaux, A Symeonidis, G Sanz, J Čermák, R Stauder, L Malcovati, M Mittelman, A A van de Loosdrecht, C J van Marrewijk, D Bowen, S Crouch, T J M de Witte, E Hellström-Lindberg
BACKGROUND: The EUMDS registry is an unique prospective, longitudinal observational registry enrolling newly diagnosed patients with lower-risk myelodysplastic syndrome (MDS) from 17 European countries from both university hospitals and smaller regional hospitals. OBJECTIVE: The aim of this study was to describe the usage and clinical impact of erythropoiesis-stimulating agents (ESAs) in 1696 patients enrolled between 2008 and 2014. METHODS: The effects of ESAs on outcomes were assessed using proportional hazards models weighting observations by propensity to receive ESA treatment within a subset of anaemic patients with or without a regular transfusion need...
December 7, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27925333/glycaemic-control-and-excess-risk-of-ischaemic-and-haemorrhagic-stroke-in-patients-with-type-1-diabetes-a-cohort-study-of-33-453-patients
#2
C Hedén Ståhl, M Lind, A-M Svensson, S Gudbjörnsdottir, A Mårtensson, A Rosengren
OBJECTIVE: To estimate the excess risk of stroke in relation to glycaemic control in patients with type 1 diabetes. METHODS: In this prospective, matched cohort study, we identified patients with type 1 diabetes, aged ≥18 years, who were registered in the Swedish National Diabetes Register from 1998-2011 and five control subjects for each case from the general population, matched for age, sex and county of residence. The risks of all strokes, ischaemic stroke and haemorrhagic stroke were estimated using Cox hazard regression...
December 7, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27878865/fibroblast-growth-factor-21-night-watch-advances-and-uncertainties-in-the-field
#3
REVIEW
A Kharitonenkov, R DiMarchi
Fibroblast growth factor (FGF) 21 belongs to a hormone-like subgroup within the FGF superfamily. The members of this subfamily, FGF19, FGF21 and FGF23, are characterized by their reduced binding affinity for heparin that enables them to be transported in the circulation and function in an endocrine manner. It is likely that FGF21 also acts in an autocrine and paracrine fashion, as multiple organs can produce this protein and its plasma concentration seems to be below the level necessary to induce a pharmacological effect...
November 22, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27864858/authors-response-letter-to-the-editor-hpv-vaccine-and-autoimmunity
#4
LETTER
O Grönlund, E Herweijer, K Sundström, L Arnheim-Dahlström
No abstract text is available yet for this article.
November 18, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27864851/letter-to-the-editor-hpv-vaccine-and-autoimmunity-incidence-of-new-onset-autoimmune-disease-in-girls-and-women-with-pre-existing-autoimmune-disease-after-quadrivalent-human-papillomavirus-vaccination-a-cohort-study
#5
LETTER
https://www.readbyqxmd.com/read/27862491/alarmins-and-central-nervous-system-inflammation-in-hiv-associated-neurological-disorders
#6
M-L Gougeon
In the era of highly active antiretroviral therapy (HAART), HIV-1-associated neurocognitive disorders (HAND) persist in infected individuals with adequate immunological and virological status. Risk factors for cognitive impairment include hepatitis C virus co-infection, host genetic factors predisposing to HAND, the early establishment of the virus in the CNS and its persistence under HAART; thus, the CNS is an important reservoir for HIV. Microglial cells are permissive to HIV-1, and NLRP3 inflammasome-associated genes were found expressed in brains of HIV-1-infected persons, contributing to brain disease...
November 16, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27862464/randomized-assessment-of-imatinib-in-patients-with-acute-ischaemic-stroke-treated-with-intravenous-thrombolysis
#7
N Wahlgren, M Thorén, B Höjeberg, T-B Käll, A-C Laska, C Sjöstrand, J Höijer, H Almqvist, S Holmin, A Lilja, L Fredriksson, D Lawrence, U Eriksson, N Ahmed
BACKGROUND: Imatinib, a tyrosine kinase inhibitor, has been shown to restore blood-brain barrier integrity and reduce infarct size, haemorrhagic transformation and cerebral oedema in stroke models treated with tissue plasminogen activator. We evaluated the safety of imatinib, based on clinical and neuroradiological data, and its potential influence on neurological and functional outcomes. METHODS: A phase II randomized trial was performed in patients with acute ischaemic stroke treated with intravenous thrombolysis...
November 14, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27862475/treatment-of-idiopathic-pulmonary-fibrosis-a-position-paper-from-a-nordic-expert-group
#8
REVIEW
C M Sköld, E Bendstrup, M Myllärniemi, G Gudmundsson, T Sjåheim, O Hilberg, A Altraja, R Kaarteenaho, G Ferrara
Idiopathic pulmonary fibrosis (IPF) is a fatal progressive lung disease occurring in adults. In the last decade, the results of a number of clinical trials based on the updated disease classification have been published. The registration of pirfenidone and nintedanib, the first two pharmacological treatment options approved for IPF, marks a new chapter in the management of patients with this disease. Other nonpharmacological treatments such as lung transplantation, rehabilitation and palliation have also been shown to be beneficial for these patients...
November 13, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27807919/extended-exome-sequencing-identifies-bach2-as-a-novel-major-risk-locus-for-addison-s-disease
#9
D Eriksson, M Bianchi, N Landegren, J Nordin, F Dalin, A Mathioudaki, G N Eriksson, L Hultin-Rosenberg, J Dahlqvist, H Zetterqvist, Å Karlsson, Å Hallgren, F H G Farias, E Murén, K M Ahlgren, A Lobell, G Andersson, K Tandre, S R Dahlqvist, P Söderkvist, L Rönnblom, A-L Hulting, J Wahlberg, O Ekwall, P Dahlqvist, J R S Meadows, S Bensing, K Lindblad-Toh, O Kämpe, G R Pielberg
BACKGROUND: Autoimmune disease is one of the leading causes of morbidity and mortality worldwide. In Addison's disease, the adrenal glands are targeted by destructive autoimmunity. Despite being the most common cause of primary adrenal failure, little is known about its aetiology. METHODS: To understand the genetic background of Addison's disease, we utilized the extensively characterized patients of the Swedish Addison Registry. We developed an extended exome capture array comprising a selected set of 1853 genes and their potential regulatory elements, for the purpose of sequencing 479 patients with Addison's disease and 1394 controls...
November 2, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27766700/use-of-statins-offsets-insulin-related-cancer-risk
#10
A Kautzky-Willer, S Thurner, P Klimek
AIM: There is firm evidence of a relation between type 2 diabetes (T2DM) and increased risks of cancer at various sites, but it is still unclear how different antihyperglycaemic therapies modify site-specific cancer risks. The aim of this study was to provide a complete characterization of all possible associations between individual T2DM therapies, statin use and site-specific cancers in the Austrian population. METHODS: Medical claims data of 1 847 051 patients with hospital stays during 2006-2007 were used to estimate age- and sex-dependent co-occurrences of site-specific cancer diagnoses and treatment with specific glucose-lowering drugs and statins...
October 21, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27739227/insulin-signalling-in-alzheimer-s-disease-and-diabetes-from-epidemiology-to-molecular-links
#11
E M Ribe, S Lovestone
As populations across the world both age and become more obese, the numbers of individuals with Alzheimer's disease and diabetes are increasing; posing enormous challenges for society and consequently becoming priorities for governments and global organizations. These issues, an ageing population at risk of neurodegenerative diseases such as Alzheimer's disease and an increasingly obese population at risk of metabolic alterations such as type 2 diabetes, are usually considered as independent conditions, but increasing evidence from both epidemiological and molecular studies link these disorders...
October 14, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27739219/using-human-genetics-to-discover-new-therapeutic-targets-for-plasma-lipids
#12
J C Cohen
Genetic variation arises through multiple different alleles that vary in frequency and severity of effect. Mutations that give rise to Mendelian disorders, such as the LDL receptor (LDLR) mutations that result in familial hypercholesterolaemia, are efficiently winnowed from the population by purifying selection and are almost inevitably rare. Conversely, alleles that are common in the population (such that homozygotes for the minor allele are present even in modest sample sizes) typically have very modest phenotypic effects...
October 14, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27730700/multiple-rare-genetic-variants-co-segregating-with-familial-iga-nephropathy-all-act-within-a-single-immune-related-network
#13
S N Cox, F Pesce, J S El-Sayed Moustafa, F Sallustio, G Serino, C Kkoufou, A Giampetruzzi, N Ancona, M Falchi, F P Schena
BACKGROUND: IgA nephropathy (IgAN) is a common complex disease with a strong genetic involvement. We aimed to identify novel, rare, highly penetrant risk variants combining family-based linkage analysis with whole-exome sequencing (WES). METHODS: Linkage analysis of 16 kindreds of South Italian ancestry was performed using an 'affected-only' strategy. Eight most informative trios composed of two familial cases and an intrafamilial control were selected for WES. High-priority variants in linked regions were identified and validated using Sanger sequencing...
October 11, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27723152/haemolytic-uraemic-syndrome
#14
Diana Karpman, Sebastian Loos, Ramesh Tati, Ida Arvidsson
Haemolytic uraemic syndrome (HUS) is defined by the simultaneous occurrence of nonimmune haemolytic anaemia, thrombocytopenia and acute renal failure. This leads to the pathological lesion termed thrombotic microangiopathy, which mainly affects the kidney, as well as other organs. HUS is associated with endothelial cell injury and platelet activation, although the underlying cause may differ. Most cases of HUS are associated with gastrointestinal infection with Shiga toxin-producing enterohaemorrhagic Escherichia coli (EHEC) strains...
October 10, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27696568/postural-orthostatic-tachycardia-is-not-a-useful-diagnostic-marker-for-chronic-fatigue-syndrome
#15
M E Roerink, J W M Lenders, I C Schmits, A M A Pistorius, J W Smit, H Knoop, J W M van der Meer
BACKGROUND: Postural orthostatic tachycardia syndrome (POTS) is considered a diagnostic marker for chronic fatigue syndrome (CFS). OBJECTIVES: The aims of this study were to (i) compare POTS prevalence in a CFS cohort with fatigued patients not meeting CFS criteria, and (ii) assess activity, impairment and response to cognitive behavioural therapy (CBT) in CFS patients with POTS (POTS-CFS) and without POTS (non-POTS-CFS). METHODS: Prospective cohort study at the Radboud University Medical Centre in the Netherlands...
October 2, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27665750/the-seasonal-importance-of-serum-25-hydroxyvitamin-d-for-bone-mineral-density-in-older-women
#16
K Michaëlsson, A Wolk, L Byberg, A Mitchell, H Mallmin, H Melhus
BACKGROUND: The impact of season when determining a serum 25-hydroxyvitamin D (S-25OHD) cut-off level for optimal bone health is unknown. OBJECTIVE: To investigate the relative importance of S-25OHD for bone mineral density (BMD) by season. METHODS: A subcohort of 5002 Swedish women (mean age 68 years), randomly selected from a large population-based longitudinal cohort study with repeat dietary and lifestyle information, was enrolled during 2003-2009 for a clinical examination, which included dual-energy X-ray absorptiometry and collection of fasting blood samples...
September 25, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27640884/c-peptide-and-diabetic-kidney-disease
#17
N J Brunskill
Kidney disease is a serious development in diabetes mellitus and poses an increasing clinical problem. Despite increasing incidence and prevalence of diabetic kidney disease, there have been no new therapies for this condition in the last 20 years. Mounting evidence supports a biological role for C-peptide, and findings from multiple studies now suggest that C-peptide may beneficially affect the disturbed metabolic and pathophysiological pathways leading to the development of diabetic nephropathy. Studies of C-peptide in animal models and in humans with type 1 diabetes all suggest a renoprotective effect for this peptide...
September 19, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27864866/symposium-endocrine-tumors-new-generation-sequencing-with-impact-on-therapy
#18
(no author information available yet)
No abstract text is available yet for this article.
December 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27864865/introduction-to-symposium-new-genetics-with-impact-on-treatment-of-endocrine-tumour-disease
#19
(no author information available yet)
No abstract text is available yet for this article.
December 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27864864/genetics-of-adrenocortical-tumours
#20
T Åkerström, T Carling, F Beuschlein, P Hellman
The recently available genomic sequencing techniques have led to breakthroughs in understanding of the underlying genetic mechanisms in adrenocortical tumours. Disease-causing mutations have been described for aldosterone-producing adenomas, cortisol-producing adenomas and adrenocortical carcinomas. Further, knowledge gained from transcriptome analyses and methylation arrays has provided new insights into the development of these tumours. Elucidation of the genomic landscape of adrenocortical tumours and improved techniques may in the future be useful for early diagnosis through the detection of mutated DNA in the circulation...
December 2016: Journal of Internal Medicine
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