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Journal of Internal Medicine

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https://www.readbyqxmd.com/read/30411414/systemic-features-of-retinal-vasculopathy-with-cerebral-leukoencephalopathy-and-systemic-manifestations-a-monogenic-small-vessel-disease
#1
N Pelzer, E S Hoogeveen, J Haan, R Bunnik, C C Poot, E W van Zwet, A Inderson, A J Fogteloo, M E J Reinders, H A M Middelkoop, M C Kruit, A M J M van den Maagdenberg, M D Ferrari, G M Terwindt
BACKGROUND: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small vessel disease caused by C-terminal truncating TREX1 mutations. The disease is typically characterized by vascular retinopathy and focal and global brain dysfunction. Systemic manifestations have also been reported but not yet systematically investigated. METHODS: In a cross-sectional study, we compared the clinical characteristics of 33 TREX1 mutation carriers (MC+) from three Dutch RVCL-S families with those of 37 family members without TREX1 mutation (MC-)...
November 8, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30403316/precision-medicine-in-type-2-diabetes
#2
REVIEW
Rashmi B Prasad, Leif Groop
The Precision Medicine Initiative defines precision medicine as "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person." This approach will facilitate more accurate treatment and prevention strategies in contrast to a one-size-fits-all approach, in which disease treatment and prevention strategies are developed for generalized usage. Diabetes is clearly more heterogeneous than the conventional sub-classification into type 1 and type 2 diabetes...
November 7, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30403310/preventing-anabolic-steroid-abuse-a-long-way-to-go
#3
Willem de Ronde
In 2017 Rich Piana, an American body builder and internet celebrity, suddenly died at the age of 46. Piana was not particularly successful as a competitive body builder, however, he became an internet sensation due to his massive body size and controversial videos about his long term anabolic steroid- and growth hormone abuse. Shortly after his death many speculated that his demise must have been related to his steroid addiction. The autopsy, however, was inconclusive about the cause of death [1]. This article is protected by copyright...
November 7, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30372796/trends-in-patient-outcome-over-the-past-two-decades-following-allogeneic-stem-cell-transplantation-for-acute-myeloid-leukemia-an-alwp-ebmt-analysis
#4
Jonathan Canaani, Eric Beohou, Myriam Labopin, Ardeshir Ghavamzadeh, Dietrich Beelen, Rose-Marie Hamladji, Dietger Niederwieser, Liisa Volin, Miroslaw Markiewicz, Renate Arnold, Ghulam Mufti, Gerhard Ehninger, Gerard Socié, Nicolaus Kröger, Mohamad Mohty, Arnon Nagler
BACKGROUND: Outcomes for patients with acute myeloid leukemia (AML) undergoing allogeneic stem cell transplantation (allo-SCT) have significantly improved in recent years. OBJECTIVES: To assess the incremental improvement of transplanted AML patients in the last two decades. METHODS: Patients included in this analysis were adult AML patients who underwent allo-SCT from an HLA matched sibling donor (MSD) or matched unrelated donor (MUD) in first remission...
October 29, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30372565/postural-orthostatic-tachycardia-syndrome-clinical-presentation-aetiology-and-management
#5
REVIEW
Artur Fedorowski
Postural Orthostatic Tachycardia Syndrome (POTS) is a variant of cardiovascular autonomic disorder characterised by an excessive heart rate increase on standing and orthostatic intolerance. POTS affects younger individuals 15-45 years old with a distinct female predominance (≈80%). The prevalence ranges between 0.2 and 1.0% in developed countries. The onset of POTS is typically precipitated by immunological stressors such as viral infection, vaccination, trauma, pregnancy, surgery or psychosocial stress. The most common complaints are dizziness, weakness, rapid heartbeat and palpitation on standing...
October 29, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30368947/impact-of-comorbidity-on-disease-characteristics-treatment-intent-and-outcome-in-diffuse-large-b-cell-lymphoma-a-swedish-lymphoma-register-study
#6
T Wästerlid, M Mohammadi, K E Smedby, I Glimelius, M Jerkeman, M Bottai, S Eloranta
BACKGROUND: Comorbidity impacts overall survival amongst patients with diffuse large B-cell lymphoma (DLBCL). However, associations of comorbidity with lymphoma characteristics, treatment selection and lymphoma-specific mortality are less well known. OBJECTIVE: To examine the impact of comorbidity on DLBCL characteristics, treatment intent and cause of death. METHODS: We identified 3905 adult patients diagnosed with DLBCL 2007-2013 through the Swedish Lymphoma Register...
October 28, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30357990/multimorbidity-and-functional-impairment-bidirectional-interplay-synergistic-effects-and-common-pathways
#7
Amaia Calderón-Larrañaga, Davide L Vetrano, Luigi Ferrucci, Stewart W Mercer, Alessandra Marengoni, Graziano Onder, Maria Eriksdotter, Laura Fratiglioni
This review discusses the interplay between multimorbidity (i.e. co-occurrence of more than one chronic health condition in an individual) and functional impairment (i.e. limitations in mobility, strength or cognition that may eventually hamper a person's ability to perform everyday tasks). On one hand, diseases belonging to common patterns of multimorbidity may interact, curtailing compensatory mechanisms and resulting in physical and cognitive decline. On the other hand, physical and cognitive impairment impact the severity and burden of multimorbidity, contributing to the establishment of a vicious circle...
October 24, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30357986/synthetic-surfactants-with-sp-b-and-sp-c-analogues-to-enable-worldwide-treatment-of-neonatal-respiratory-distress-syndrome-and-other-lung-diseases
#8
REVIEW
Jan Johansson, Tore Curstedt
Treatment of neonatal respiratory distress syndrome (RDS) using animal derived lung surfactant preparations has reduced the mortality of handling premature infants with RDS to a 50th of that in the 1960-ies. The supply of animal derived lung surfactants is limited and only a part of the preterm babies is treated. Thus, there is a need to develop well-defined synthetic replicas based on key components of natural surfactant. A synthetic product that equals natural derived surfactants would enable cost-efficient production and could also facilitate development of treatments of other lung diseases than neonatal RDS...
October 24, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30357965/iron-deficiency-anemia-due-to-proton-pump-inhibitors-clinical-impact-revealed
#9
Denis McCarthy
For over a decade, despite animal and human studies and numerous case reports that demonstrated interference by proton pump inhibitors (PPIs) with enteric absorption of dietary and medicinal iron, the importance of this effect in clinical practice has remained uncertain [1, 2]. With the publication in this issue of a large, well-controlled, UK-based population study [3], strongly supported by another similarly large study from the USA [4], the risks of PPI-induced iron deficiency (ID) have been definitively established...
October 24, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30357955/evidence-supporting-the-best-clinical-management-of-patients-with-multimorbidity-and-polypharmacy-a-systematic-guideline-review-and-expert-consensus
#10
Christiane Muth, Jeanet W Blom, Susan M Smith, Kristina Johnell, Ana Isabel Gonzalez-Gonzalez, Truc S Nguyen, Maria-Sophie Brueckle, Matteo Cesari, Mary E Tinetti, Jose M Valderas
The complexity and heterogeneity of patients with multimorbidity and polypharmacy renders traditional disease-oriented guidelines often inadequate and complicates clinical decision making. To address this challenge, guidelines have been developed on multimorbidity or polypharmacy. To systematically analyze their recommendations, we conducted a systematic guideline review using the Ariadne principles for managing multimorbidity as analytical framework. The information synthesis included a multi-step consensus process involving 18 multi-disciplinary experts from seven countries...
October 24, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30289186/superselective-endovascular-tissue-access-using-trans-vessel-wall-technique-feasibility-study-for-treatment-applications-in-heart-pancreas-and-kidney-in-swine
#11
R Grankvist, M Jensen-Urstad, J Clarke, M Lehtinen, P Little, J Lundberg, F Arnberg, S Jonsson, K R Chien, S Holmin
OBJECTIVES: With the emergence of targeted cell transplantation and gene therapy, there is a need for minimally invasive tissue access to facilitate delivery of therapeutic substrate. The objective of this study was to demonstrate the suitability of an endovascular device which is able to directly access tissue and deliver therapeutic agent to the heart, kidney and pancreas without need to seal the penetration site. METHODS: In vivo experiments were performed in 30 swine, including subgroups with follow-up to evaluate complications...
October 5, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30289185/primary-hyperparathyroidism-should-surgery-be-performed-on-all-patients-current-evidence-and-residual-uncertainties
#12
REVIEW
I-L Nilsson
Primary hyperparathyroidism (pHPT) is the third most common endocrine disease and is characterized by hypercalcaemia and elevated or inappropriately 'normal' levels of the parathyroid hormone (PTH). The main target organs of PTH are the skeletal system and the kidneys. Before the 1970s, pHPT was a rarely detected disease associated with notable morbidity and premature mortality. Introduction of biochemical screening, allowing for a wide range of indications, has contributed to the detection of the full spectrum of the disease...
October 5, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30280445/the-mir-200-family-regulates-key-pathogenic-events-in-ascending-aortas-of-individuals-with-bicuspid-aortic-valves
#13
S Maleki, K A Cottrill, F-A Poujade, A Bhattachariya, O Bergman, J R Gådin, N Simon, K Lundströmer, A Franco-Cereceda, H M Björck, S Y Chan, P Eriksson
BACKGROUND: An individual with a bicuspid aortic valve (BAV) runs a substantially higher risk of developing aneurysm in the ascending aorta compared to the normal population with tricuspid aortic valves (TAV). Aneurysm formation in patients with BAV and TAV is known to be distinct at the molecular level but the underlying mechanisms are undefined. Here, we investigated the still incompletely described role of microRNAs (miRNAs), important post-transcriptional regulators of gene expression, in such aortic disease of patients with BAV as compared with TAV...
October 2, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30277630/the-new-neuroendocrinology-a-perspective
#14
T Hökfelt
No abstract text is available yet for this article.
October 2, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30264910/connecting-the-brain-cholesterol-and-renin-angiotensin-systems-potential-role-of-statins-and-ras-modifying-medications-in-dementia
#15
REVIEW
B Petek, M Villa-Lopez, R Loera-Valencia, G Gerenu, B Winblad, M G Kramberger, M-A-M Ismail, M Eriksdotter, S Garcia-Ptacek
Millions of people worldwide receive agents targeting the renin-angiotensin system (RAS) to treat hypertension or statins to lower cholesterol. The RAS and cholesterol metabolic pathways in the brain are autonomous from their systemic counterparts and are interrelated through the cholesterol metabolite 27-hydroxycholesterol (27-OHC). These systems contribute to memory and dementia pathogenesis through interference in the amyloid-beta cascade, vascular mechanisms, glucose metabolism, apoptosis, neuroinflammation and oxidative stress...
September 28, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30255616/diagnosis-and-treatment-of-primary-aldosteronism-practical-clinical-perspectives
#16
REVIEW
W F Young
Primary aldosteronism (PA), the most common form of secondary hypertension, can be either surgically cured or treated with targeted pharmacotherapy. PA is frequently undiagnosed and untreated, leading to aldosterone-specific cardiovascular morbidity and nephrotoxicity. Thus, clinicians should perform case detection testing for PA at least once in all patients with hypertension. Confirmatory testing is indicated in most patients with positive case detection testing results. The next step is to determine whether patients with confirmed PA have a disease that can be cured with surgery or whether it should be treated medically; this step is guided by computed tomography scan of the adrenal glands and adrenal venous sampling...
September 25, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30230641/high-dose-vitamin-d-without-benefit-but-not-without-risk
#17
I R Reid
No abstract text is available yet for this article.
September 19, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30230640/peptide-based-multi-agonists-a-new-paradigm-in-metabolic-pharmacology
#18
S J Brandt, T D Müller, R D DiMarchi, M H Tschöp, K Stemmer
Obesity and its comorbidities, such as type 2 diabetes, are pressing worldwide health concerns. Available anti-obesity treatments include weight loss pharmacotherapies and bariatric surgery. Whilst surgical interventions typically result in significant and sustained weight loss, available pharmacotherapies are far less effective, typically decreasing body weight by no more than 5-10%. An emerging class of multi-agonist drugs may eventually bridge this gap. This new class of specially tailored drugs hybridizes the amino acid sequences of key metabolic hormones into one single entity with enhanced potency and sustained action...
September 19, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30222212/variations-in-maternal-adenylate-cyclase-genes-are-associated-with-congenital-zika-syndrome-in-a-cohort-from-northeast-brazil
#19
Á D Rossi, F R Faucz, A Melo, P Pezzuto, G S de Azevedo, B L F Schamber-Reis, J S Tavares, J J Mattapallil, A Tanuri, R S Aguiar, C C Cardoso, C A Stratakis
BACKGROUND: Vertical transmission of Zika virus (ZIKV) is associated with congenital malformations but the mechanism of pathogenesis remains unclear. Although host genetics appear to play a role, no genetic association study has yet been performed to evaluate this question. In order to investigate if maternal genetic variation is associated with Congenital Zika Syndrome (CZS), we conducted a case-control study in a cohort of Brazilian women infected with ZIKV during pregnancy. METHODS: A total of 100 women who reported symptoms of zika during pregnancy were enrolled and tested for ZIKV...
September 17, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/30209831/influence-of-anti-inflammatory-diet-and-smoking-on-mortality-and-survival-in-men-and-women-two-prospective-cohort-studies
#20
J Kaluza, N Håkansson, H R Harris, N Orsini, K Michaëlsson, A Wolk
BACKGROUND: The associations between an anti-inflammatory diet and both all-cause and cause-specific mortality have been studied previously; however, the influence of an anti-inflammatory diet on survival time has not been investigated. Moreover, the potential modification of these associations by smoking status remains unclear. OBJECTIVE: The aims of this study were to examine the associations between an anti-inflammatory diet index (AIDI) and all-cause and cause-specific mortality, to determine the association between the AIDI and differences in survival time and to assess effect modification by smoking status...
September 12, 2018: Journal of Internal Medicine
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