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https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#1
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334371/comparative-study-of-functional-nasal-reconstruction-using-structural-reinforcement
#2
Waleed H Ezzat, Sara W Liu
Importance: Nasal reconstruction after Mohs surgery is a unique challenge in that it must satisfy both functional and aesthetic goals. Despite some advocacy in the literature for using structural reinforcement to achieve both functional and aesthetic outcomes in soft-tissue reconstruction, no study has validated this claim by comparing reconstruction with and without structural support. Objective: To evaluate the effectiveness of and need for structural reinforcement when reconstructing the nasal alar and sidewall subunits...
March 23, 2017: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/28333717/effect-of-resistance-exercise-on-muscle-metabolism-and-autophagy-in-sibm
#3
Jae-Hoon Jeong, Dae-Seung Yang, Dong-Ju Hwang, Joon-Yong Cho, Eun-Bum Kang
PURPOSE: Sporadic inclusion body myositis (sIBM), a muscular degenerative disease in the elderly, is an inflammatory myopathy characterized by muscle weakness in the wrist flexor, quadriceps, and tibialis anterior muscles. We aimed to identify the therapeutic effect of resistance exercise (RE) in improving sIBM symptoms in an sIBM animal model. METHODS: Six-week-old male Wistar rats were divided into a sham group (sham, n = 12), chloroquine-control group (CQ-con, n = 12), and chloroquine-RE group (CQ-RE, n = 12)...
March 23, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28333387/pathophysiological-fundamentals-of-diabetic-cardiomyopathy
#4
Xinyue Hu, Tao Bai, Zheng Xu, Qiuju Liu, Yang Zheng, Lu Cai
Diabetic cardiomyopathy (DCM) was first recognized more than four decades ago and occurred independent of cardiovascular diseases or hypertension in both type 1 and type 2 diabetic patients. The exact mechanisms underlying this disease remain incompletely understood. Several pathophysiological bases responsible for DCM have been proposed, including the presence of hyperglycemia, nonenzymatic glycosylation of large molecules (e.g., proteins), energy metabolic disturbance, mitochondrial damage and dysfunction, impaired calcium handling, reactive oxygen species formation, inflammation, cardiac cell death, and cardiac hypertrophy and fibrosis, leading to impairment of cardiac contractile functions...
March 16, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28332904/comparison-of-the-long-term-efficacy-of-radiofrequency-ablation-and-surgical-turbinoplasty-in-inferior-turbinate-hypertrophy-a-randomized-clinical-study
#5
Satvinder Singh Bakshi, Kiruba Shankar Manoharan, Surianarayanan Gopalakrishnan
OBJECTIVE: To compare the long term effectiveness of radiofrequency thermal ablation with that of surgical turbinoplasty, a prospective, randomized, blinded clinical study was conducted. METHODS: Eighty six patients suffering from nasal obstruction due to bilateral inferior turbinate hypertrophy were enrolled. Forty four patients were operated by radiofrequency ablation, while 42 underwent surgical turbinoplasty. The outcomes of both techniques were compared in terms of symptoms using visual analogue score (VAS) and endoscopic scores...
March 23, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28332240/lower-urinary-tract-symptoms-benign-prostatic-hypertrophy-and-vascular-function-role-of-the-nitric-oxide-phosphodiesterase-type-5-cyclic-guanosine-3-5-monophosphate-pathway
#6
REVIEW
Yukihito Higashi
It is well known that there is an association of lower urinary tract symptoms/benign prostatic hypertrophy with cardiovascular disease, suggesting that lower urinary tract symptoms/benign prostatic hypertrophy is a risk factor for cardiovascular events. Vascular function, including endothelial function and vascular smooth muscle function, is involved in the pathogenesis, maintenance and development of atherosclerosis, leading to cardiovascular events. Vascular dysfunction per se should also contribute to lower urinary tract symptoms/benign prostatic hypertrophy...
March 22, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28331489/reversible-atrial-fibrillation-following-crotalinae-envenomation
#7
Dan Quan, Kenneth Zurcher
BACKGROUND: Cardiotoxicity is a documented complication of Crotalinae envenomation. Reported cardiac complications following snake envenomation have included acute myocardial infarction, electrocardiogram abnormalities and arrhythmias. Few reports exist describing arrhythmia induced by viper envenomation and to our knowledge none describe arrhythmia induced by Crotalinae envenomation. This report concerns the first known case of atrial fibrillation precipitated by rattlesnake bite. CASE PRESENTATION: A 73-year-old Caucasian man with a past medical history of hypertension, hyperlipidemia, type 1 diabetes mellitus, and a baseline first-degree atrioventricular block presented to the emergency department following a rattlesnake bite to his left lower leg...
2017: Journal of Venomous Animals and Toxins Including Tropical Diseases
https://www.readbyqxmd.com/read/28331059/adaptive-changes-in-gfr-tubular-morphology-and-transport-in-subtotal-nephrectomized-kidneys-modeling-and-analysis
#8
Anita T Layton, Aurélie Edwards, Volker Vallon
Removal of renal mass stimulates anatomical and functional adaptations in the surviving nephrons, including elevation in single-nephron glomerular filtration rate (SNGFR) and tubular hypertrophy. A goal of this study is to assess the extent to which the concomitant increases in filtered load and tubular transport capacity preserve homeostasis of water and salt. To accomplish that goal, we developed computational models to simulate solute transport and metabolism along nephron populations in a uninephrectomized (UNX) rat and a 5/6-nephrectomized (5/6-NX) rat...
March 22, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28330992/localized-hepatic-lobular-regeneration-by-central-vein-associated-lineage-restricted-progenitors
#9
Jonathan M Tsai, Pang Wei Koh, Ania Stefanska, Liujing Xing, Graham G Walmsley, Nicolas Poux, Irving L Weissman, Yuval Rinkevich
The regeneration of organ morphology and function following tissue loss is critical to restore normal physiology, yet few cases are documented in mammalian postnatal life. Partial hepatectomy of the adult mammalian liver activates compensatory hepatocyte hypertrophy and cell division across remaining lobes, resulting in restitution of organ mass but with permanent alteration of architecture. Here, we identify a time window in early postnatal life wherein partial amputation culminates in a localized regeneration instead of global hypertrophy and proliferation...
March 22, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28330950/pressure-overload-leads-to-an-increased-accumulation-and-activity-of-mast-cells-in-the-right-ventricle
#10
Himal Luitel, Akylbek Sydykov, Yves Schymura, Argen Mamazhakypov, Wiebke Janssen, Kabita Pradhan, Astrid Wietelmann, Djuro Kosanovic, Bhola Kumar Dahal, Norbert Weissmann, Werner Seeger, Friedrich Grimminger, Hossein Ardeschir Ghofrani, Ralph Theo Schermuly
Right ventricular (RV) remodeling represents a complex set of functional and structural adaptations in response to chronic pressure or volume overload due to various inborn defects or acquired diseases and is an important determinant of patient outcome. However, the underlying molecular mechanisms remain elusive. We investigated the time course of structural and functional changes in the RV in the murine model of pressure overload-induced RV hypertrophy in C57Bl/6J mice. Using magnetic resonance imaging, we assessed the changes of RV structure and function at different time points for a period of 21 days...
March 2017: Physiological Reports
https://www.readbyqxmd.com/read/28330809/piperine-attenuates-pathological-cardiac-fibrosis-via-ppar-%C3%AE-akt-pathways
#11
Zhen-Guo Ma, Yu-Pei Yuan, Xin Zhang, Si-Chi Xu, Sha-Sha Wang, Qi-Zhu Tang
Mitogen-activated protein kinases (MAPKs) and AMP-activated protein kinase α (AMPKα) play critical roles in the process of cardiac hypertrophy. Previous studies have demonstrated that piperine activates AMPKα and reduces the phosphorylation of extracellular signal-regulated kinase (ERK). However, the effect of piperine on cardiac hypertrophy remains completely unknown. Here, we show that piperine-treated mice had similar hypertrophic responses as mice treated with vehicle but exhibited significantly attenuated cardiac fibrosis after pressure overload or isoprenaline (ISO) injection...
March 14, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28329906/-the-fabry-s-disease-cardiomyopathy-as-differential-diagnosis-of%C3%A2-acute-coronary-syndrome
#12
Daniel Oder, Stefan Störk, Christoph Wanner, Georg Ertl, Frank Weidemann, Peter Nordbeck
The progressive cardiomyopathy in patients with Fabry disease is often accompanied by angina pectoris and elevated levels of high-sensitive troponin T (hs-TnT), potentially mimicking acute coronary syndrome. Here, we present to representative cases with focus on clinical, diagnostic and therapeutic settings. An overview on the cardiomyopathy associated with Fabry disease and its role as differential diagnosis of acute coronary syndrome is provided. Fabry cardiomyopathy might exhibit similar clinical and biochemical constellations as seen in acute coronary syndrome...
March 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28329747/influence-of-dipeptidyl-peptidase-iv-inhibitor-sitagliptin-on-extracellular-signal-regulated-kinases-1-2-signaling-in-rats-with-diabetic-nephropathy
#13
Xiaojun Ren, Gaohong Liu, Yanhong Wang, Wan Zhang, Fuping Xue, Rongshan Li, Weimin Yu
The protective effects of sitagliptin on the kidneys of rats with diabetic nephropathy (DN) and its influence on extracellular signal-regulated kinases 1/2 (ERK1/2) signaling were investigated. Male Wistar rats (n = 40) were randomly assigned to normal control, DN, low-dose sitagliptin intervention (ST1), or high-dose sitagliptin intervention (ST2) groups. Animals were euthanized after a 16-week treatment, and blood glucose (BG), glycosylated hemoglobin (HbA1c), urinary albumin excretion rate (AER), serum creatinine (Scr), creatinine clearance rate (Ccr), active glucagon-like peptide-1 (GLP-1) levels, kidney hypertrophy index, and renal pathohistology were determined...
March 23, 2017: Pharmacology
https://www.readbyqxmd.com/read/28329248/clinical-characteristics-of-wild-type-transthyretin-cardiac-amyloidosis-disproving-myths
#14
Esther González-López, Christian Gagliardi, Fernando Dominguez, Cristina Candida Quarta, F Javier de Haro-Del Moral, Agnese Milandri, Clara Salas, Mario Cinelli, Marta Cobo-Marcos, Massimiliano Lorenzini, Enrique Lara-Pezzi, Serena Foffi, Luis Alonso-Pulpon, Claudio Rapezzi, Pablo Garcia-Pavia
Aims: Wild-type transthyretin amyloidosis (ATTRwt) is mostly considered a disease predominantly of elderly male, characterized by concentric LV hypertrophy, preserved LVEF, and low QRS voltages. We sought to describe the characteristics of a large cohort of ATTRwt patients to better define the disease. Methods and results: Clinical findings of consecutive ATTRwt patients diagnosed at 2 centres were reviewed. ATTRwt was diagnosed histologically or non-invasively (LV hypertrophy ≥12 mm, intense cardiac uptake at 99mTc-DPD scintigraphy and AL exclusion)...
March 1, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28329122/prognostic-implications-of-left-ventricular-asymmetry-in-patients-with-asymptomatic-aortic-valve-stenosis
#15
Per Ejlstrup Sigvardsen, Linnea Hornbech Larsen, Helle Gervig Carstensen, Mathias Sørgaard, Louise Hindsø, Christian Hassager, Lars Køber, Rasmus Møgelvang, Klaus Fuglsang Kofoed
Aims: Left ventricular (LV) regional hypertrophy in the form of LV asymmetry is a common finding in patients with aortic valve stenosis. The aim of this study was to test the hypothesis that LV asymmetry predicts future symptomatic status and indication for aortic valve replacement (AVR) in patients with asymptomatic aortic valve stenosis. Methods and results: In total, 114 patients with asymptomatic aortic valve stenosis (peak velocity > 2.5 m/s assessed by echocardiographic screening and LV ejection fraction > 50%) were enrolled in the study...
February 18, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28329018/a-unique-microrna-profile-in-end-stage-heart-failure-indicates-alterations-in-specific-cardiovascular-signaling-networks
#16
Sathyamangla V Naga Prasad, Manveen K Gupta, Zhong-Hui Duan, Venkata Suresh K Surampudi, Chang-Gong Liu, Ashwin Kotwal, Christine S Moravec, Randall C Starling, Dianne M Perez, Subha Sen, Qingyu Wu, Edward F Plow, Sadashiva Karnik
It is well established that the gene expression patterns are substantially altered in cardiac hypertrophy and heart failure, however, less is known about the reasons behind such global differences. MicroRNAs (miRNAs) are short non-coding RNAs that can target multiple molecules to regulate wide array of proteins in diverse pathways. The goal of the study was to profile alterations in miRNA expression using end-stage human heart failure samples with an aim to build signaling network pathways using predicted targets for the altered miRNA and to determine nodal molecules regulating individual networks...
2017: PloS One
https://www.readbyqxmd.com/read/28328712/resistance-training-induced-elevations-in-muscular-strength-in-trained-men-are-maintained-after-2-weeks-of-detraining-and-not-differentially-affected-by-whey-protein-supplementation
#17
Paul S Hwang, Thomas L Andre, Sarah K McKinley-Barnard, Flor E Morales Marroquín, Joshua J Gann, Joon J Song, Darryn S Willoughby
Hwang, PS, Andre, TL, McKinley-Barnard, SK, Morales Marroquín, FE, Gann, JJ, Song, JJ, and Willoughby, DS. Resistance training-induced elevations in muscular strength in trained men are maintained after 2 weeks of detraining and not differentially affected by whey protein supplementation. J Strength Cond Res 31(4): 869-881, 2017-Resistance training (RT) with nutritional strategies incorporating whey protein intake postexercise can stimulate muscle protein synthesis and elicit hypertrophy. The early phases of training-induced anabolic responses can be attenuated with longer-term training...
April 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28327129/short-term-overfeeding-of-zebrafish-with-normal-or-high-fat-diet-as-a-model-for-the-development-of-metabolically-healthy-versus-unhealthy-obesity
#18
Kathrin Landgraf, Susanne Schuster, Andrej Meusel, Antje Garten, Thomas Riemer, Dorit Schleinitz, Wieland Kiess, Antje Körner
BACKGROUND: Obese individuals differ in their risk of developing metabolic and cardiovascular complications depending on fat distribution (subcutaneous versus visceral) and adipose tissue (AT) phenotype (hyperplasic versus hypertrophic). However, the exact mechanisms which determine whether an obese individual is metabolically healthy or unhealthy are not clear, and analyses of the underlying pathomechanisms are limited by the lack of suitable in vivo models in which metabolically healthy versus metabolically unhealthy AT accumulation can be specifically induced...
March 21, 2017: BMC Physiology
https://www.readbyqxmd.com/read/28325641/spectrum-of-nondystrophic-skeletal-muscle-channelopathies-in-children
#19
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
BACKGROUND: The nondystrophic skeletal muscle channelopathies are a group of disorders caused by mutations of various voltage-gated ion channel genes, including nondystrophic myotonia and periodic paralysis. METHODS: We identified patients with a diagnosis of muscle channelopathy from our neuromuscular database in a tertiary care pediatric center from 2005 to 2015. We then performed a retrospective review of their medical records for demographic characteristics, clinical features, investigations, treatment, and follow-up...
February 16, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28325568/prevalence-and-management-of-systemic-hypertension-in-athletes
#20
Stefano Caselli, Antonia Vaquer Sequì, Erika Lemme, Filippo Quattrini, Alberto Milan, Flavio D'Ascenzi, Antonio Spataro, Antonio Pelliccia
The aim of the present study was to evaluate the prevalence, determinants, and clinical management of systemic hypertension in a large cohort of competitive athletes: 2,040 consecutive athletes (aged 25 ± 6 years, 64% men) underwent clinical evaluation including blood test, electrocardiogram, exercise test, echocardiography, and ophthalmic evaluation. Sixty-five athletes (3%) were identified with hypertension (men = 57; 87%) including 5 with a secondary cause (thyroid dysfunction in 3, renal artery stenosis in 1, and drug induced in 1)...
March 1, 2017: American Journal of Cardiology
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