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https://www.readbyqxmd.com/read/28653809/a-prenatal-diagnosis-of-mosaic-trisomy-5-reveals-a-postnatal-complete-uniparental-disomy-of-chromosome-5-with-multiple-congenital-anomalies
#1
Andrew M Reittinger, Benjamin M Helm, Debra J Boles, Inder K Gadi, Samantha A Schrier Vergano
Mosaic trisomy 5 is a very rare condition in liveborns, with few cases reported in the last four decades. There are some reports of prenatally diagnosed mosaic trisomy 5 resulting in phenotypically normal offspring, suggesting a low level of mosaicism, but there are also reports associated with multiple congenital anomalies, cardiovascular malformations, and intrauterine growth restriction. We report an infant male diagnosed with mosaic trisomy 5 (5/15 cells) via amniocentesis. The patient was subsequently found to have uniparental disomy 5 (UPD5) by postnatal chromosome microarray, but high-resolution chromosome analysis on peripheral blood did not identify trisomy 5...
June 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28653367/significance-of-l-carnitine-for-human-health
#2
REVIEW
María M Adeva-Andany, Isabel Calvo-Castro, Carlos Fernández-Fernández, Cristóbal Donapetry-García, Ana María Pedre-Piñeiro
Carnitine acyltransferases catalyze the reversible transfer of acyl groups from acyl-coenzyme A esters to l-carnitine, forming acyl-carnitine esters that may be transported across cell membranes. l-Carnitine is a wáter-soluble compound that humans may obtain both by food ingestion and endogenous synthesis from trimethyl-lysine. Most l-carnitine is intracellular, being present predominantly in liver, skeletal muscle, heart and kidney. The organic cation transporter-2 facilitates l-carnitine uptake inside cells...
June 26, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28652798/combined-aquaretic-and-diuretic-therapy-in-acute-heart-failure
#3
Michael Goyfman, Paul Zamudio, Kristine Jang, Jennifer Chee, Catherine Miranda, Javed Butler, Nand K Wadhwa
INTRODUCTION: Acute heart failure (AHF) is a leading cause of hospitalization and readmission in the US. The present study evaluated maximum diuresis while minimizing electrolyte imbalances, hemodynamic instability, and kidney dysfunction, to achieve a euvolemic state safely in a shorter period of time. METHODS AND RESULTS: A protocol of combined therapy with furosemide, metolazone, and spironolactone, with or without tolvaptan and acetazolamide, was used in 17 hospitalized patients with AHF...
2017: International Journal of Nephrology and Renovascular Disease
https://www.readbyqxmd.com/read/28651852/differences-in-repolarization-heterogeneity-among-heart-failure-with-preserved-ejection-fraction-phenotypic-subgroups
#4
Suzanne K Oskouie, Stuart B Prenner, Sanjiv J Shah, Andrew J Sauer
Heart failure with preserved ejection fraction (HFpEF) is a highly heterogeneous syndrome associated with multiple medical comorbidities and pathophysiologic pathways or phenotypes. We recently developed a phenomapping method combining deep phenotyping with machine learning analysis to classify HFpEF patients into 3 clinically distinct phenotypic subgroups (phenogroups) with different clinical outcomes. Phenogroup #1 was younger with lower B-type natriuretic peptide levels, phenogroup #2 had the highest prevalence of obesity and diabetes mellitus, and phenogroup #3 was the oldest with the most factors for chronic kidney disease, the most dysfunctional myocardial mechanics, and the highest adverse outcomes...
May 30, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28649247/an-antigen-presenting-and-apoptosis-inducing-polymer-microparticle-prolongs-alloskin-graft-survival-by-selectively-and-markedly-depleting-alloreactive-cd8-t-cells
#5
Wei Wang, Khawar Ali Shahzad, Miaochen Li, Aifeng Zhang, Lei Zhang, Tao Xu, Xin Wan, Chuanlai Shen
Selectively depleting the pathogenic T cells is a fundamental strategy for the treatment of allograft rejection and autoimmune disease since it retains the overall immune function of host. The concept of killer artificial antigen-presenting cells (KaAPCs) has been developed by co-coupling peptide-major histocompatibility complex (pMHC) multimer and anti-Fas monoclonal antibody (mAb) onto the polymeric microparticles (MPs) to induce the apoptosis of antigen-specific T cells. But little information is available about its in vivo therapeutic potential and mechanism...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28648984/whole-body-biodistribution-of-the-cannabinoid-type-1-receptor-ligand-18-f-mk-9470-in-the-rat
#6
H G Buchholz, K Uebbing, S Maus, S Pektor, N Afahaene, V Weyer-Elberich, B Lutz, M Schreckenberger, I Miederer
The endocannabinoid system participates in many processes in the body, including memory, reward, pain, motor activity, food intake, energy metabolism, and gastrointestinal functions. [(18)F]MK-9470 is a positron emission tomography (PET) ligand that binds with high affinity and selectivity to the cannabinoid type 1 receptor. In order to fully characterize ligand behavior, tracer uptake measured using in vivo microPET was compared with results from ex vivo tissue dissection. Twelve male Sprague-Dawley rats were divided into three subgroups and scanned over time periods of 10min, 30min and 90min using PET...
June 15, 2017: Nuclear Medicine and Biology
https://www.readbyqxmd.com/read/28648944/tubulin-beta-3-and-4-are-involved-in-the-generation-of-early-fibrotic-stages
#7
Marta E Wawro, Katarzyna Sobierajska, Wojciech M Ciszewski, Waldemar Wagner, Marta Frontczak, Katarzyna Wieczorek, Jolanta Niewiarowska
The endothelial-mesenchymal transition (EndMT) is a fundamental cellular mechanism that occurs under both physiological and pathological conditions and includes the fibrotic stages of numerous organs, namely, the skin, kidneys, heart, lungs and liver. Endothelial cells that undergo EndMT are one of the main source of (myo)fibroblasts in fibrotic tissues. A critical step in cellular transdifferentiation is morphological change, which is engineered by the reorganization of cytoskeletal elements such as microtubules...
June 22, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28648650/planning-execution-and-follow-up-for-endovascular-aortic-aneurysm-repair-using-a-highly-restrictive-iodinated-contrast-protocol-in-patients-with-severe-renal-disease
#8
E Gallitto, G L Faggioli, M Gargiulo, A Freyrie, R Pini, C Mascoli, S Ancetti, V Vento, A Stella
BACKGROUND: The cumulative amount of iodinated-contrast-medium necessary for EVAR planning, operative procedure and subsequent follow-up is a threat for the onset of end stage renal disease in patients with pre-operative impaired kidney function. Purpose of this study is to describe a mini-invasive approach aimed to minimize the exposure of these patients to iodinated-contrast-medium and the subsequent risk of renal function worsening. METHODS: From 2012 to 2015, all patients with abdominal aortic aneurysm (AAA) at high-surgical risk and fit for standard endovascular repair (simple aortic-iliac anatomy: proximal and distal neck length ≥15mm, no severe angulation), underwent EVAR through the following "near-zero contrast" approach, if their glomerular filtration rate (GFR) was <30 mL/min: pre-operative planning was performed by non-contrast enhanced computed tomography (CT) and duplex-ultrasound (DU); the origin of renal/hypogastric arteries and aortic bifurcation was evaluated and matched with vertebral bone landmarks and the endograft deployed accordingly, using < 20cc of isotonic iodinate-contrast-medium and contrast-enhancement-DU (CEUS)...
June 22, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28648516/-mycosis-fungoides-in-a-heart-transplant-recipient
#9
Q Bodard, N Litrowski, D Carre, M Midhat, P Chenal, P Bravard
BACKGROUND: Skin cancer occurs frequently in organ transplant patients as a result of induced immunosuppression. Most cases involve carcinomas or B-cell lymphomas induced by the Epstein Barr virus (EBV). Cutaneous T-cell lymphomas remain rare. We report a case of cutaneous T-cell lymphoma of the mycosis fungoides type in a heart transplant recipient. PATIENTS AND METHODS: A 68-year-old man who had received a heart transplant 21years earlier and was being treated with tacrolimus, mycophenolate mofetil and prednisolone had been presenting a psoriasiform rash on his trunk, limbs and head for 4years...
June 22, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28648436/angiotensin-converting-enzyme-inhibitors-and-receptor-blockers-in-heart-failure-and-chronic-kidney-disease-demystifying-controversies
#10
REVIEW
Kader Muneer, Anishkumar Nair
In clinical setting, congestive heart failure (CHF) and chronic kidney disease (CKD) often co-exist in patients due to common underlying predisposing factors. An intricate equilibrium between the cardiovascular and renal system is maintained through rennin angiotensin-aldosterone axis and autonomic nervous system. Consequent to favorable hemodynamic modification, angiotensin converting enzyme inhibitors (ACEI) and angiotensin receptor blocking (ARB) therapy have proven to be an indispensable aspect of heart failure management with morbidity and mortality benefit...
May 2017: Indian Heart Journal
https://www.readbyqxmd.com/read/28648393/etiologies-trends-and-predictors-of-30-day-readmissions-in-patients-with-diastolic-heart-failure
#11
Shilpkumar Arora, Sopan Lahewala, Hafeez Ul Hassan Virk, Saman Setareh-Shenas, Prashant Patel, Varun Kumar, Byomesh Tripathi, Harshil Shah, Viralkumar Patel, Umesh Gidwani, Abhishek Deshmukh, Apurva Badheka, Radha Gopalan
An estimated half of all heart failure (HF) populations has been categorized to have diastolic HF (DHF), but sparse data are available describing etiologies and predictors of 30-day readmission in DHF population. The study cohort was derived from the National Readmission Database 2013 to 2014, a subset of the Healthcare Cost and Utilization Project sponsored by the Agency for Healthcare Research and Quality. DHF was identified using International Classification of Diseases, 9th Revision code 428.3x in primary diagnosis field...
June 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28648301/associations-of-early-kidney-disease-with-brain-magnetic-resonance-imaging-and-cognitive-function-in-african-americans-with-type-2-diabetes-mellitus
#12
Barry I Freedman, Kaycee M Sink, Christina E Hugenschmidt, Timothy M Hughes, Jeff D Williamson, Christopher T Whitlow, Nicholette D Palmer, Michael E Miller, Laura C Lovato, Jianzhao Xu, S Carrie Smith, Lenore J Launer, Joshua I Barzilay, Robert M Cohen, Mark D Sullivan, R Nick Bryan, Benjamin C Wagner, Donald W Bowden, Joseph A Maldjian, Jasmin Divers
BACKGROUND: Relationships between early kidney disease, neurocognitive function, and brain anatomy are poorly defined in African Americans with type 2 diabetes mellitus (T2DM). STUDY DESIGN: Cross-sectional associations were assessed between cerebral anatomy and cognitive performance with estimated glomerular filtration rate (eGFR) and urine albumin-creatinine ratio (UACR) in African Americans with T2DM. SETTING & PARTICIPANTS: African Americans with cognitive testing and cerebral magnetic resonance imaging (MRI) in the African American-Diabetes Heart Study Memory in Diabetes (AA-DHS MIND; n=512; 480 with MRI) and Action to Control Cardiovascular Risk in Diabetes (ACCORD) MIND (n=484; 104 with MRI) studies...
June 22, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28648204/long-term-prognosis-of-chronic-kidney-disease-in-non-st-elevation-acute-coronary-syndrome-treated-with-invasive-strategy
#13
Ildefonso Roldán Torres, Inmaculada Salvador Mercader, Claudia Cabadés Rumbeu, José Luis Díez Gil, José Ferrando Cervelló, Marta Monteagudo Viana, Rubén Fernández Galera, Vicente Mora Llabata
BACKGROUND AND AIM: Patients with chronic kidney disease (CKD) have an increased risk of adverse cardiovascular outcomes after non-ST elevation acute coronary syndrome (NSTEACS). However, the information available on this specific population, is scarce. We evaluate the impact of CKD on long-term prognosis in patients with NSTEACS managed with invasive strategy. METHODS: We conduct a prospective registry of patients with NSTEACS and coronary angiography. CKD was defined as a glomerular filtration rate < 60ml/min/1,73m(2)...
May 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28647817/molecular-characterization-of-the-cd79a-and-cd79b-and-its-role-against-aeromonas-hydrophila-infection-in-chinese-sucker-myxocyprinus-asiaticus
#14
Huan Li, Yujin Li, Xiaoping Zhang, Yafeng Wang, Wufeng Zhang, Xia Wu, Zhijian Wang
CD79a and CD79b heterodimers are the important signaling components of B cell receptor (BCR) complex which plays a crucial role in B cell development and antibody production. In the present study, CD79a and CD79b homologues from Chinese sucker (Myxocyprinus asiaticus), namely MaCD79a and MaCD79b, were identified and their expression at early developmental stages and under constitutive and stimulated conditions were investigated. The cDNA sequences for MaCD79a and MaCD79b contained open reading frame of 678 and 636 bp in length for 225 and 211 amino acid residues, respectively...
June 25, 2017: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/28647690/acute-kidney-injury-after-primary-angioplasty-is-contrast-induced-nephropathy-the-culprit
#15
Oren Caspi, Manhal Habib, Yuval Cohen, Arthur Kerner, Ariel Roguin, Eitan Abergel, Monther Boulos, Michael R Kapeliovich, Rafael Beyar, Eugenia Nikolsky, Doron Aronson
BACKGROUND: Acute kidney injury (AKI) following primary percutaneous coronary intervention (pPCI) is frequently interpreted as contrast-induced AKI but may result from other insults. We aimed to determine the causal association of contrast material exposure and the incidence of AKI following pPCI using a control group of propensity score-matched patients with ST-segment-elevation myocardial infarction who were not exposed to contrast material. METHODS AND RESULTS: We studied 2025 patients with ST-segment-elevation myocardial infarction who underwent pPCI and 1025 patients receiving fibrinolysis or no reperfusion who were not exposed to contrast material during the first 72 hours of hospital stay (control group)...
June 24, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28642799/extraoral-taste-receptor-discovery-new-light-on-ayurvedic-pharmacology
#16
REVIEW
Marilena Gilca, Dorin Dragos
More and more research studies are revealing unexpectedly important roles of taste for health and pathogenesis of various diseases. Only recently it has been shown that taste receptors have many extraoral locations (e.g., stomach, intestines, liver, pancreas, respiratory system, heart, brain, kidney, urinary bladder, pancreas, adipose tissue, testis, and ovary), being part of a large diffuse chemosensory system. The functional implications of these taste receptors widely dispersed in various organs or tissues shed a new light on several concepts used in ayurvedic pharmacology (dravyaguna vijnana), such as taste (rasa), postdigestive effect (vipaka), qualities (guna), and energetic nature (virya)...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28642099/developmental-cardiovascular-physiology-of-the-olive-ridley-sea-turtle-lepidochelys-olivacea
#17
Dane Alan Crossley, Janna Lee Crossley, Camilla Smith, Martha Harfush, Hermilo Sánchez-Sánchez, Mónica Vanessa Garduño-Paz, José Fernando Méndez-Sánchez
Our understanding of reptilian cardiovascular development and regulation has increased substantially for two species the American alligator (Alligator mississippiensis) and the common snapping turtle (Chelydra serpentina) during the past two decades. However, what we know about cardiovascular maturation in many other species remains poorly understood or unknown. Embryonic sea turtles have been studied to understand the maturation of metabolic function, but these studies have not addressed the cardiovascular system...
June 19, 2017: Comparative Biochemistry and Physiology. Part A, Molecular & Integrative Physiology
https://www.readbyqxmd.com/read/28642067/caloric-restriction-protects-livers-from-ischemia-reperfusion-damage-by-preventing-ca-2-induced-mitochondrial-permeability-transition
#18
Sergio L Menezes-Filho, Ignacio Amigo, Fernanda M Prado, Natalie C Ferreira, Marcia K Koike, Isabella F D Pinto, Sayuri Miyamoto, Edna F S Montero, Marisa H G Medeiros, Alicia J Kowaltowski
Caloric restriction (CR) promotes lifespan extension and protects against many pathological conditions, including ischemia/reperfusion injury to the brain, heart and kidney. In the liver, ischemia/reperfusion damage is related to excessive mitochondrial Ca(2+) accumulation, leading to the mitochondrial permeability transition. Indeed, liver mitochondria isolated from animals maintained on CR for 4 months were protected against permeability transition and capable of taking up Ca(2+) at faster rates and in larger quantities...
June 19, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28642065/severe-and-resistant-hypertension-in-an-older-woman-with-claudication
#19
Puneet Gupta, Robert Hagberg, Electra Kaloudis, Anika Lucas, Parth Shah, William B White
Coarctation of the aorta is an uncommon cause of treatment-resistant hypertension in adults. It is typically detected and treated in infancy or childhood with surgical or endovascular procedures. Most cases of recurrence of coarctation after repair occur in childhood or early adulthood; recurrence in older persons (>70 years) has rarely been reported. A 73-year-old woman was referred to us for the management of treatment-resistant hypertension accompanied by symptoms of claudication and headaches, which had resulted in multiple emergency room visits...
June 1, 2017: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/28641607/the-use-of-nesiritide-in-patients-with-critical-cardiac-disease
#20
Ronald A Bronicki, Michele Domico, Paul A Checchia, Curtis E Kennedy, Ayse Akcan-Arikan
OBJECTIVE: We evaluated the use of nesiritide in children with critical CHD, pulmonary congestion, and inadequate urine output despite undergoing conventional diuretic therapy. DESIGN: We conducted a retrospective analysis of 11 patients with critical CHD, comprising 18 infusions, each of which occurred during separate hospitalisations. Haemodynamic parameters were assessed, and the stage of acute kidney injury was determined before and throughout the duration of therapy using a standardised definition of acute kidney injury - The Kidney Disease: Improving Global Outcomes criteria...
June 23, 2017: Cardiology in the Young
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