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https://www.readbyqxmd.com/read/28644950/hematopoietic-cell-transplantation-in-fanconi-anemia-and-dyskeratosis-congenita-a-minireview
#1
REVIEW
Mouhab Ayas
Bone marrow failure syndrome is an epithet of bone marrow failure (all or single-cell lineage) that is attributable to an underlying genetic aberration usually with a constellation of somatic abnormalities. Multiple inheritance patterns have been described in these disorders; many are transmitted in an autosomal recessive pattern, which may consequently lead to a higher prevalence of such illnesses in homogeneous societies such as Saudi Arabia, where consanguineous marriages are not uncommon. At King Faisal Specialist Hospital and Research Center, the most common entity referred for allogeneic hematopoietic cell transplantation (HCT) is Fanconi anemia, followed by pure red aplasia, and, less commonly, dyskeratosis congenita, congenital neutropenia, and others...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28644946/effectiveness-of-corticosteroid-injections-for-treatment-of-de-quervain-s-tenosynovitis
#2
Jinhee K Oh, Susan Messing, Ollivier Hyrien, Warren C Hammert
BACKGROUND: Although surgery can provide definitive treatment for de Quervain's tenosynovitis, nonoperative treatment could be preferable if symptoms are predictably relieved. We sought to determine the effectiveness of corticosteroid injections as treatment for de Quervain's tenosynovitis and to evaluate patient characteristics as predictors of treatment outcome. METHODS: A retrospective study was conducted using our institutional database International Classification of Disease, version 9 (ICD-9) code list for de Quervain's tenosynovitis...
July 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28644734/high-throughput-phenotypic-screening-of-kinase-inhibitors-to-identify-drug-targets-for-polycystic-kidney-disease
#3
Tijmen H Booij, Hester Bange, Wouter N Leonhard, Kuan Yan, Michiel Fokkelman, Steven J Kunnen, Johannes G Dauwerse, Yu Qin, Bob van de Water, Gerard J P van Westen, Dorien J M Peters, Leo S Price
Polycystic kidney disease (PKD) is a prevalent disorder characterized by renal cysts that lead to kidney failure. Various signaling pathways have been targeted to stop disease progression, but most interventions still focus on alleviating PKD-associated symptoms. The mechanistic complexity of the disease, as well as the lack of functional in vitro assays for compound testing, has made drug discovery for PKD challenging. To identify modulators of PKD, Pkd1(-/-) kidney tubule epithelial cells were applied to a scalable and automated 3D cyst culture model for compound screening, followed by phenotypic profiling to determine compound efficacy...
June 1, 2017: SLAS Discovery
https://www.readbyqxmd.com/read/28644225/adjuvant-steroid-therapy-in-community-acquired-pneumonia
#4
Caroline Bell Sisson
Despite medical advances, pneumonia is a leading cause of death worldwide. Because inflammation is a key defense mechanism, adjuvant corticosteroid therapy has long been considered but never widely recommended to treat pneumonia. New research is exploring potential benefits of this therapy, including reduced time to clinical stability, reduced hospital stay, reduced rates of treatment failure, and prevention of complications.
July 2017: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/28643218/empagliflozin-improves-left-ventricular-diastolic-dysfunction-in-a-genetic-model-of-type-2-diabetes
#5
Nadjib Hammoudi, Dongtak Jeong, Rajvir Singh, Ahmed Farhat, Michel Komajda, Eric Mayoux, Roger Hajjar, Djamel Lebeche
PURPOSE: Cardiovascular (CV) diseases in type 2 diabetes (T2DM) represent an enormous burden with high mortality and morbidity. Sodium-glucose cotransporter 2 (SGLT2) inhibitors have recently emerged as a new antidiabetic class that improves glucose control, as well as body weight and blood pressure with no increased risk of hypoglycemia. The first CV outcome study terminated with empagliflozin, a specific SGLT2 inhibitor, has shown a reduction in CV mortality and in heart failure hospitalization, suggesting a beneficial impact on cardiac function which remains to be demonstrated...
June 22, 2017: Cardiovascular Drugs and Therapy
https://www.readbyqxmd.com/read/28642672/multifocal-osteonecrosis-secondary-to-occupational-exposure-to-aluminum
#6
Jorge Henrique Assunção, Eduardo Angeli Malavolta, Mauro Emilio Conforto Gracitelli, Renée Zon Filippi, Arnaldo Amado Ferreira
Multifocal osteonecrosis is a rare disease; chronic use of corticosteroids is considered the main risk factor. Patients with chronic renal failure can develop aluminum toxicity, which can lead to osteomalacia and encephalopathy. An association between osteonecrosis and aluminum toxicity has been reported among patients with dialytic renal insufficiency. Occupational exposure to aluminum rarely causes lung disease and no cases of bone lesions resulting from exposure to this metal have been reported. In this manuscript, we describe a novel case of a patient with multifocal osteonecrosis associated with chronic occupational exposure to aluminum...
May 2017: Acta Ortopedica Brasileira
https://www.readbyqxmd.com/read/28642454/inclusion-body-myositis-a-case-presenting-with-respiratory-failure-and-autopsy-findings-leading-to-the-hypothesis-of-a-paraneoplastic-cause
#7
Christopher Dardis, Ariel Antezana, Kurenai Tanji, Paul J Maccabee
BACKGROUND Sporadic inclusion body myositis (IBM) is the most common acquired myopathy seen in adults aged over 50 years, with a prevalence estimated at between 1 and 70 per million. Weakness of the diaphragm with loss of vital capacity is almost universal in IBM. This is almost always asymptomatic. When respiratory complications occur, they are most often due to aspiration. Respiratory failure due to diaphragmatic weakness is exceptionally rare, particularly as the presenting symptom of the disease. It is not currently considered to be a paraneoplastic syndrome...
June 23, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28641753/cardiac-dysfunction-in-congenital-diaphragmatic-hernia-pathophysiology-clinical-assessment-and-management
#8
Neil Patel, Florian Kipfmueller
Cardiac dysfunction is an important consequence of pulmonary hypertension in congenital diaphragmatic hernia and a determinant of disease severity. Increased afterload leads to right ventricular dilatation and diastolic dysfunction. Septal displacement and dysfunction impair left ventricular function, which may also be compromised by fetal hypoplasia. Biventricular failure contributes to systemic hypotension and hypoperfusion. Early and regular echocardiographic assessment of cardiac function and pulmonary artery pressure can guide therapeutic decision-making, including choice and timing of pulmonary vasodilators, cardiotropes, ECMO, and surgery...
June 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28641219/comparison-of-brand-versus-generic-antiepileptic-drug-adverse-event-reporting-rates-in-the-u-s-food-and-drug-administration-adverse-event-reporting-system-faers
#9
Md Motiur Rahman, Yasser Alatawi, Ning Cheng, Jingjing Qian, Annya V Plotkina, Peggy L Peissig, Richard L Berg, David Page, Richard A Hansen
OBJECTIVE: Despite the cost saving role of generic anti-epileptic drugs (AEDs), debate exists as to whether generic substitution of branded AEDs may lead to therapeutic failure and increased toxicity. This study compared adverse event (AE) reporting rates for brand vs. authorized generic (AG) vs. generic AEDs. Since AGs are pharmaceutically identical to brand but perceived as generics, the generic vs. AG comparison minimized potential bias against generics. METHODS: Events reported to the U...
June 13, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28641152/urea-induced-ros-accelerate-senescence-in-endothelial-progenitor-cells
#10
Maria D'Apolito, Anna Laura Colia, Maria Lasalvia, Vito Capozzi, Maria Pia Falcone, Massimo Pettoello-Mantovani, Michael Brownlee, Angela Bruna Maffione, Ida Giardino
BACKGROUND AND AIMS: The pathogenic events responsible for the reduction of endothelial progenitor cell (EPC) number and function seen in patients with chronic renal failure (CRF) are poorly understood. Here we investigate the hypothesis that increased concentrations of urea associated with CRF increase ROS production directly in EPCs, causing abnormalities associated with coronary artery disease risk. METHODS: Human EPCs were isolated from peripheral blood mononuclear cells of healthy donors and cultured in the presence or absence of 20 mmol/L urea...
June 15, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28640888/mechanisms-of-acute-neurovascular-protection-with-at1-blockade-after-stroke-effect-of-prestroke-hypertension
#11
Ahmed Alhusban, Anna Kozak, Bindu Pillai, Heba Ahmed, Mohammed A Sayed, Maribeth H Johnson, Tauheed Ishrat, Adviye Ergul, Susan C Fagan
Stroke is a leading cause of adult disability worldwide. Improving stroke outcome requires an orchestrated interplay that involves up regulation of pro-survival pathways and a concomitant suppression of pro-apoptotic mediators. In this investigation, we assessed the involvement of eNOS in the AT1 blocker-mediated protective and pro-recovery effects in animals with hypertension. We also evaluated the effect of acute eNOS inhibition in hypertensive animals. To achieve these goals, spontaneously hypertensive rats (SHR) were implanted with blood pressure transmitters, and randomized to receive either an eNOS inhibitor (L-NIO) or saline one hour before cerebral ischemia induction...
2017: PloS One
https://www.readbyqxmd.com/read/28640750/in-vivo-monitoring-of-infection-via-implantable-microsensors-a-pilot-study
#12
Andrej Ring, Heiko Sorg, Andreas Weltin, Daniel J Tilkorn, Jochen Kieninger, Gerald Urban, Jörg Hauser
The most common complication after implantation of foreign material is infection, leading to implant failure and severe patient discomfort. Smoldering-infections proceed inapparently and might not get verified by radiological diagnostics. Early identification of this type of infection might significantly reduce the rate of complications. Therefore, we manufactured a microsensor strip in a hybrid of thin-film and laminate technology in a wafer-level process. It comprises electrochemical, amperometric microsensors for glucose, oxygen and lactate as well as an integrated reference electrode...
June 22, 2017: Biomedizinische Technik. Biomedical Engineering
https://www.readbyqxmd.com/read/28640320/molecular-signature-of-coronary-stent-thrombosis-oxidative-stress-and-innate-immunity-cells
#13
Judit Cubedo, Ana Blasco, Teresa Padro, Ilaria Ramaiola, Oriol Juan-Babot, Javier Goicolea, José Antonio Fernández-Díaz, Juan Francisco Oteo, Lina Badimon
The clinical impact of in-stent thrombosis is high because it is associated with high mortality and 20 % of the patients suffer a recurrent event within the two following years. The aim of this study was to characterise the morphologic and proteomic profile of in-stent thrombi (IST) in comparison to thrombi developed on native coronary arteries (CT) to identify a differential molecular signature. The study included 45 patients with ST-elevation-myocardial-infarction (STEMI) treated by primary-percutaneous-intervention and thrombus aspiration: 21 had IST and 24 had CT...
June 22, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28639951/metabolic-abnormalities-and-oxidative-stress-in-lupus
#14
Yaima L Lightfoot, Luz P Blanco, Mariana J Kaplan
PURPOSE OF REVIEW: Upon antigen exposure, immune cells rely on cell-specific metabolic pathways to mount an efficient immune response. In autoimmunity, failure in critical metabolic checkpoints may lead to immune cell hyperactivation and tissue damage. Oxidative stress in autoimmune patients can also contribute to immune dysregulation and injury to the host. Recent insights into the immune cell metabolism signatures, specifically associated with systemic lupus erythematosus (SLE) and the consequences of heightened oxidative stress in patients, are discussed herein...
July 20, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28639574/mir-551b-5p-contributes-to-pathogenesis-of-vein-graft-failure-via-upregulating-early-growth-response-1-expression
#15
Ran Dong, Kui Zhang, Yue-Li Wang, Feng Zhang, Jian Cao, Ju-Bing Zheng, Hong-Jia Zhang
BACKGROUND: Vein graft failure (VGF) is a serious complication of coronary artery bypass graft, although the mechanism remains unclear. The study aimed to investigate the effects of microRNAs (miRNAs) on the endothelial dysfunction involved in VGF. METHODS: Human umbilical vein endothelial cells (HUVECs) were subjected to mechanical stretch stimulation to induce endothelial dysfunction. Genome-wide transcriptome profiling was performed using the Human miRNA OneArray® V4 (PhalanxBio Inc...
July 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28639250/regulation-of-nephrin-phosphorylation-in-diabetes-and-chronic-kidney-injury
#16
Benoit Denhez, Pedro Geraldes
Diabetes is the leading cause of microalbuminuria and end-stage renal failure in industrial countries. Disruption of the filtration barrier, seen in almost all nephrotic diseases and diabetes, is the result of the loss or effacement of the podocyte foot process, notably damage of proteins within the slit diaphragm such as nephrin. For many years, nephrin has been viewed as a structural component of the slit diaphragm. It is now well recognized that nephrin contains several tyrosine residues in its cytoplasmic domain, which influences the development of glomerular injury...
June 22, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28639199/treatment-of-pancreatic-cancer-by-aptamer-conjugated-c-ebp%C3%AE-sarna
#17
Sorah Yoon, John J Rossi
Pancreatic cancer is estimated to become the second-leading cause of cancer-related mortality by 2020. While the death rates of most other cancers continue to decline recently, the death rates of pancreatic cancer are still increasing, with less than 5% of patients achieving 5-year survival. Despite great efforts to improve treatment with combinational therapies in pancreatic cancer patients, limited progress has been made. V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) has been depicted as a therapeutic target in pancreatic cancer for many years...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28638663/acute-abdominal-compartment-syndrome-following-extraperitoneal-bladder-perforation
#18
Ana Licina
Extraperitoneal bladder perforation is a known complication of a commonly performed rigid cystoscopy. If unrecognized, this complication can lead to continuous intra-abdominal fluid leakage with consequent organ function impairment and symptoms. This is the first case report in literature of a transurethral bladder perforation causing an acute abdominal compartment syndrome, which was subsequently managed conservatively with supportive management only. Case Presentation. We describe a clinical course of a 73-year-old Caucasian female whose initial acute presentation involved urinary symptoms...
2017: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/28638452/targeting-tpx2-suppresses-the-tumorigenesis-of-hepatocellular-carcinoma-cells-resulting-in-arrested-mitotic-phase-progression-and-increased-genomic-instability
#19
Chao-Wen Hsu, Yu-Chia Chen, Hsing-Hao Su, Guan-Jin Huang, Chih-Wen Shu, Tony Tong-Lin Wu, Hung-Wei Pan
Hepatocellular carcinoma (HCC) remains one of the most difficult cancers to treat, with chemotherapies being relatively ineffective. Therefore, a better knowledge of molecular hepatocarcinogenesis will provide opportunities for designing targeted therapies. TPX2 (targeting protein for Xklp2) is overexpressed as a consequence of oncogenic alterations and is likely to alter the proper regulation of chromosome segregation in cancer cells. Disrupting the machinery which is responsible for mitosis and chromosome instability in cancer cells can be one of the most successful strategies for cancer therapy...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28637783/paradoxical-suppression-of-atherosclerosis-in-the-absence-of-microrna-146a
#20
Henry S Cheng, Rickvinder Besla, Angela Li, Zhiqi Chen, Eric A Shikatani, Maliheh Nazari-Jahantigh, Adel Hammoutène, My-Anh Nguyen, Michele Geoffrion, Lei Cai, Nadiya Khyzha, Tong Li, Sonya A MacParland, Mansoor Husain, Myron I Cybulsky, Chantal M Boulanger, Ryan E Temel, Andreas Schober, Katey J Rayner, Clinton Robbins, Jason E Fish
Rationale: Inflammation is a key contributor to atherosclerosis. MicroRNA-146a (miR-146a) has been identified as a critical brake on pro-inflammatory NF-κB signalling in several cell types, including endothelial cells and bone marrow-derived cells. Importantly, miR-146a expression is elevated in human atherosclerotic plaques, and polymorphisms in the miR-146a pre-cursor have been associated with risk of coronary artery disease. Objective: To define the role of endogenous miR-146a during atherogenesis. Methods and Results: Paradoxically, Low-density lipoprotein receptor (Ldlr)(-/-) mice deficient in miR-146a develop less atherosclerosis, despite having highly elevated levels of circulating pro-inflammatory cytokines...
June 21, 2017: Circulation Research
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