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https://www.readbyqxmd.com/read/28453658/androgen-receptor-agonists-increase-lean-mass-improve-cardiopulmonary-functions-and-extend-survival-in-preclinical-models-of-duchenne-muscular-dystrophy
#1
Suriyan Ponnusamy, Ryan D Sullivan, Dahui You, Nadeem Zafar, Chuan He Yang, Thirumagal Thiyagarajan, Daniel L Johnson, Maron L Barrett, Nikki J Koehler, Mayra Star, Erin J Stephenson, Dave Bridges, Stephania A Cormier, Lawrence M Pfeffer, Ramesh Narayanan
Duchenne muscular dystrophy (DMD) is a neuromuscular disease that predominantly affects boys as a result of mutation(s) in the dystrophin gene. DMD is characterized by musculoskeletal and cardiopulmonary complications, resulting in shorter life-span. Boys afflicted by DMD typically exhibit symptoms within 3-5 years of age and declining physical functions before attaining puberty. We hypothesized that rapidly deteriorating health of pre-pubertal boys with DMD could be due to diminished anabolic actions of androgens in muscle, and that intervention with an androgen receptor (AR) agonist will reverse musculoskeletal complications and extend survival...
April 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28453370/school-absence-and-productivity-outcomes-associated-with-childhood-asthma-in-the-usa
#2
Patrick Sullivan, Vahram G Ghushchyan, Prakash Navaratnam, Howard S Friedman, Abhisek Kavati, Benjamin Ortiz, Bob Lanier
BACKGROUND: Previous studies have examined the association between childhood asthma and lost productivity; however, more data are needed to understand its impact. METHODS: This was a retrospective analysis of cross-sectional data in the nationally representative 2007-2013 Medical Expenditure Panel Survey (MEPS). School-aged children (SAC), children (age 6-11), and adolescents (age 12-17) with asthma were compared to those without asthma to examine annual missed school days...
April 28, 2017: Journal of Asthma: Official Journal of the Association for the Care of Asthma
https://www.readbyqxmd.com/read/28453362/a-novel-mutation-in-the-dominantly-inherited-topors-gene-supports-haploinsufficiency-as-the-mechanism-of-retinitis-pigmentosa
#3
Marta Latasiewicz, Anna Paola Salvetti, Robert E MacLaren
BACKGROUND: Inherited retinal degenerations are a major cause of untreatable blindness in the younger age group. Recent advances in gene therapy using adeno-associated viral (AAV) vectors have raised the possibility of slowing or stopping retinal degenerations with gene replacement in cases of gene deficiency. MATERIALS AND METHODS: In this report, we present a family with autosomal dominant retinitis pigmentosa. A screen for common ADRP genes was performed with 105 genes targeted...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28449090/alcohol-consumption-sinus-tachycardia-and-cardiac-arrhythmias-at-the-munich-octoberfest-results-from-the-munich-beer-related-electrocardiogram-workup-study-munichbrew
#4
Stefan Brunner, Rebecca Herbel, Cathrine Drobesch, Annette Peters, Steffen Massberg, Stefan Kääb, Moritz F Sinner
Aims: Alcohol is a risk factor for cardiac arrhythmias. Retrospective analyses suggest supraventricular arrhythmias consecutive to acute alcohol consumption, but prospective data are limited. We intended to prospectively associate acute alcohol consumption with cardiac arrhythmias. Methods and results: At the 2015 Munich Octoberfest, we enrolled 3028 voluntary participants who received a smartphone-based ECG and breath alcohol concentration (BAC) measurements. ECGs were analysed for cardiac arrhythmias (sinus tachycardia, sinus arrhythmia, premature atrial/ventricular complexes, atrial fibrillation/flutter) and respiratory sinus arrhythmia...
April 25, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28448821/the-implications-of-war-captivity-and-long-term-psychopathology-trajectories-for-telomere-length
#5
Zahava Solomon, Noga Tsur, Yafit Levin, Orit Uziel, Meir Lahav, Avi Ohry
BACKGROUND: Previous findings have demonstrated the link between trauma, its psychopathological aftermath and cellular aging, as reflected in telomere length. However, as long-term examinations of psychopathology following trauma are scarce, very little is known regarding the repercussions of depression and PTSD trajectories of psychopathology for telomeres. The current study examined the implications of war captivity and depression/PTSD trajectories on telomere length. METHODS: Ninety-nine former prisoners of war (ex-POWs) from the 1973 Yom Kippur War were evaluated for depression and PTSD at 18, 30, 35 and 42 years after the war...
April 12, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28448664/assessment-of-lower-doses-of-intravitreous-bevacizumab-for-retinopathy-of-prematurity-a-phase-1-dosing-study
#6
David K Wallace, Raymond T Kraker, Sharon F Freedman, Eric R Crouch, Amy K Hutchinson, Amit R Bhatt, David L Rogers, Michael B Yang, Kathryn M Haider, Deborah K VanderVeen, R Michael Siatkowski, Trevano W Dean, Roy W Beck, Michael X Repka, Lois E Smith, William V Good, Mary Elizabeth Hartnett, Lingkun Kong, Jonathan M Holmes
Importance: Intravitreous bevacizumab (0.25 to 0.625 mg) is increasingly used to treat type 1 retinopathy of prematurity (ROP), but there remain concerns about systemic toxicity. A much lower dose may be effective while reducing systemic risk. Objective: To find a dose of intravitreous bevacizumab that was lower than previously used for severe ROP, was effective in this study, and could be tested in future larger studies. Design, Setting, and Participants: Between May 2015 and September 2016, 61 premature infants with type 1 ROP in 1 or both eyes were enrolled in a masked, multicenter, phase 1 dose de-escalation study...
April 27, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28448551/characterization-of-physiological-defects-in-adult-sirt6-mice
#7
Victoria Peshti, Alexey Obolensky, Liat Nahum, Yariv Kanfi, Moran Rathaus, Maytal Avraham, Simon Tinman, Fredrick W Alt, Eyal Banin, Haim Y Cohen
The NAD+-dependent SIRT6 deacetylase was shown to be a major regulator of lifespan and healthspan. Mice deficient for SIRT6 develop a premature aging phenotype and metabolic defects, and die before four weeks of age. Thus, the effect of SIRT6 deficiency in adult mice is unknown. Here we show that SIRT6-/- mice in mixed 129/SvJ/BALB/c background reach adulthood, allowing examination of SIRT6-related metabolic and developmental phenotypes in adult mice. In this mixed background, at 200 days of age, more than 80% of the female knock-out mice were alive whereas only 10% of male knock-out mice survived...
2017: PloS One
https://www.readbyqxmd.com/read/28447229/pathogenic-role-and-therapeutic-potential-of-pleiotrophin-in-mouse-models-of-ocular-vascular-disease
#8
Weiwen Wang, Michelle E LeBlanc, Xiuping Chen, Ping Chen, Yanli Ji, Megan Brewer, Hong Tian, Samantha R Spring, Keith A Webster, Wei Li
Angiogenic factors play an important role in the pathogenesis of diabetic retinopathy (DR), neovascular age-related macular degeneration (nAMD) and retinopathy of prematurity (ROP). Pleiotrophin, a well-known angiogenic factor, was recently reported to be upregulated in the vitreous fluid of patients with proliferative DR (PDR). However, its pathogenic role and therapeutic potential in ocular vascular diseases have not been defined in vivo. Here using corneal pocket assays, we demonstrated that pleiotrophin induced angiogenesis in vivo...
April 26, 2017: Angiogenesis
https://www.readbyqxmd.com/read/28447221/deleterious-abca7-mutations-and-transcript-rescue-mechanisms-in-early-onset-alzheimer-s-disease
#9
Arne De Roeck, Tobi Van den Bossche, Julie van der Zee, Jan Verheijen, Wouter De Coster, Jasper Van Dongen, Lubina Dillen, Yalda Baradaran-Heravi, Bavo Heeman, Raquel Sanchez-Valle, Albert Lladó, Benedetta Nacmias, Sandro Sorbi, Ellen Gelpi, Oriol Grau-Rivera, Estrella Gómez-Tortosa, Pau Pastor, Sara Ortega-Cubero, Maria A Pastor, Caroline Graff, Håkan Thonberg, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Alexandre de Mendonça, Madalena Martins, Barbara Borroni, Alessandro Padovani, Maria Rosário Almeida, Isabel Santana, Janine Diehl-Schmid, Panagiotis Alexopoulos, Jordi Clarimon, Alberto Lleó, Juan Fortea, Magda Tsolaki, Maria Koutroumani, Radoslav Matěj, Zdenek Rohan, Peter De Deyn, Sebastiaan Engelborghs, Patrick Cras, Christine Van Broeckhoven, Kristel Sleegers
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). High variability, however, is observed in downstream ABCA7 mRNA and protein expression, disease penetrance, and onset age, indicative of unknown modifying factors. Here, we investigated the prevalence and disease penetrance of ABCA7 PTC mutations in a large early onset AD (EOAD)-control cohort, and examined the effect on transcript level with comprehensive third-generation long-read sequencing...
April 27, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28447205/treatment-with-geranylgeranylacetone-induces-heat-shock-protein-70-and-attenuates-neonatal-hyperoxic-lung-injury-in-a-model-of-bronchopulmonary-dysplasia
#10
Shuko Tokuriki, Aiko Igarashi, Takashi Okuno, Genrei Ohta, Hironobu Naiki, Yusei Ohshima
PURPOSE: Bronchopulmonary dysplasia (BPD) is a respiratory complication characterized by abnormal alveolar development in premature infants. Geranylgeranylacetone (GGA) can induce heat shock protein (HSP) 70, which has cytoprotective effects against various stressors. Here, we investigated whether GGA protected neonatal lungs from hyperoxic stress in a murine BPD model, and measured the serum HSP70 levels in preterm humans treated with oxygen. METHODS: Newborn mice were exposed to >90% oxygen and administered GGA or vehicle alone orally on days 1, 2, and 3 of life...
April 26, 2017: Lung
https://www.readbyqxmd.com/read/28444176/-j-waves-induced-after-short-coupling-intervals-a-manifestations-of-latent-depolarization-abnormality
#11
Yoshifusa Aizawa, Masafumi Nakayama, Masahito Sato, Masaaki Okabe, Yoshiyasu Aizawa, Seiji Takatsuki, Keiichi Fukuda
Aims: To confirm the presence of tachycardia-induced slur or notch in the terminal portion of the QRS complexes in a general patient population. Methods and results: A tachycardia-induced J wave was defined as a slur or notch in the terminal portion of the QRS complexes newly induced at short RR intervals during atrial premature contractions (APCs) or atrial electrical stimulation in the electrophysiological study (EPS). Twenty-three out of 2000 patients with general diseases were involved...
April 24, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28443017/premature-brain-aging-in-baboons-resulting-from-moderate-fetal-undernutrition
#12
Katja Franke, Geoffrey D Clarke, Robert Dahnke, Christian Gaser, Anderson H Kuo, Cun Li, Matthias Schwab, Peter W Nathanielsz
Contrary to the known benefits from a moderate dietary reduction during adulthood on life span and health, maternal nutrient reduction during pregnancy is supposed to affect the developing brain, probably resulting in impaired brain structure and function throughout life. Decreased fetal nutrition delivery is widespread in both developing and developed countries, caused by poverty and natural disasters, but also due to maternal dieting, teenage pregnancy, pregnancy in women over 35 years of age, placental insufficiency, or multiples...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28442541/respiratory-scores-as-a-tool-to-reduce-bronchodilator-use-in-children-hospitalized-with-acute-viral-bronchiolitis
#13
Grant M Mussman, Rashmi D Sahay, Lauren Destino, Michele Lossius, Kristin A Shadman, Susan C Walley
BACKGROUND AND OBJECTIVES: Adoption of clinical respiratory scoring as a quality improvement (QI) tool in bronchiolitis has been temporally associated with decreased bronchodilator usage. We sought to determine whether documented use of a clinical respiratory score at the patient level was associated with a decrease in either the physician prescription of any dose of bronchodilator or the number of doses, if prescribed, in a multisite QI collaborative. METHODS: We performed a secondary analysis of data from a QI collaborative involving 22 hospitals...
April 25, 2017: Hospital Pediatrics
https://www.readbyqxmd.com/read/28441836/-clinical-value-of-prenatal-mri-in-the-diagnosis-of-fetal-simple-expansion-of-lateral-ventricle-and-follow-up-after-birth
#14
Z Li, P Y He, Z Q Luo, L M Pan, Y N Chen, G S Shen, Z H Fei, M Y Li, X M Fang, L H Qi, M S Liu
Objective: To explore the value of prenatal MRI in the diagnosis of fetal simple expansion of lateral ventricle (ventriculomegaly) , and follow up the nervous system development status after birth. Methods: Simple expansion of the lateral ventricle fetus by prenatal MRI examination were collected in Huzhou Maternal and Child Care Hospital from May 2013 to June 2015, 126 cases of live births in expansion group, 50 normal cases were recruited in the same period as the control group. In expansion group, fetal subgroup analysis was done: (1) unilateral or bilateral lateral ventricle expasion: one group was 98 cases was lateral ventricle expansion (77...
April 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28440985/-early-neonatal-sepsis-and-associated-factors
#15
Roberto Anaya-Prado, Cuauhtémoc Valero-Padilla, Augusto Sarralde-Delgado, Jorge Manuel Sánchez-González
BACKGROUND: Early-onset neonatal sepsis (EONS) is an infectious disease of low incidence but high morbidity and mortality with severe consequences to the newborn prognosis. Identifying the associated factors related to EONS allows to start a timely treatment and to take preventive measures. METHODS: In this case and controls study we identified all the newborns (NB) with and without EONS (cases and controls), diagnosed through blood culture in a period of three years...
May 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28440677/no-association-between-estrogen-receptor-gene-polymorphisms-and-premature-thelarche-in-girls
#16
Hae Sang Lee, Jong Seo Yoon, Cheol Hwan So, Kyung Hee Kim, Jin Soon Hwang
OBJECTIVE: Premature thelarche (PT) is a benign, nonprogressive condition defined as isolated breast development. While the pathophysiology of PT remains unclear, increased sensitivity to estrogen may cause PT. The aim of this study was to investigate the association between polymorphisms in the estrogen receptor alpha (ERα) gene and PT in girls. METHODS: In this case-control study, we examined 96 girls referred for early breast development (before the age of 8 years)...
April 25, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28440418/two-novel-mutations-in-ercc6-cause-cockayne-syndrome-b-in-a-chinese-family
#17
Chunxia He, Mao Sun, Guoxia Wang, Ying Yang, Libo Yao, Yuanming Wu
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe neurologic abnormality and premature aging. Whole exome sequencing identified two novel mutations in ERCC6 that had not been previously reported...
April 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28439908/possible-role-of-serum-testosterone-gonadotropins-and-prolactin-in-patients-with-premature-ejaculation
#18
M Abu El-Hamd, A Farah
Premature ejaculation (PE) is the most common male sexual dysfunction. This study aimed to investigate the role of serum testosterone, gonadotropins and prolactin in patients with PE. In a prospective a case-controlled study, it was conducted on 90 male patients with PE and 90 male healthy participants as controls. Patients were evaluated by Premature Ejaculation Diagnostic Tool (PEDT) and intravaginal ejaculatory latency time (IELT). Patients with mean IELT values ≤60 s and PEDT total scores ≥11 were considered to have PE...
April 24, 2017: Andrologia
https://www.readbyqxmd.com/read/28439729/macular-morphology-in-former-preterm-and-full-term-infants-aged-4-to-10%C3%A2-years
#19
Achim Fieß, Johannes Janz, Alexander K Schuster, Ruth Kölb-Keerl, Markus Knuf, Bernd Kirchhof, Philipp S Muether, Jacqueline Bauer
OBJECTIVE: To analyse macular retinal and choroidal layer thickness in former preterm and full-term infants and to assess associated perinatal influence factors and functional correlation. METHODS: This prospective controlled, cross-sectional, hospital-based study in a tertiary center of maximum care examined former preterm infants with a gestational age (GA) ≤ 32 weeks and full-term neonates currently aged 4 to 10 years. We investigated data from 397 infants, analysing total foveal retinal thickness and six distinct macular retinal layer and choroidal layer measurements via spectral-domain optical coherence tomography...
April 25, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28439195/the-role-of-serial-measurements-of-serum-insulin-like-growth-factor-1-levels-in-the-development-of-retinopathy-of-prematurity
#20
Bayram Ali Dorum, Cansu Canbolat Yılmaz, Nilgün Köksal, Hilal Özkan, Meral Yıldız, Ahmet Tuncer Özmen
AIM: To determine the role of serum insulin-like growth factor-1 levels in the development of retinopathy of prematurity, which is a major cause of childhood blindness worldwide. MATERIAL AND METHODS: We prospectively studied newborn infants born at a postmenstrual age of <32 weeks and birth weights <1 500 gr, between January 1(st), 2015, and December 31(st), 2015. A total of 40 infants were enrolled in the study. The retinal examination time was determined in accordance with the American Academy of Pediatrics recommendations for retinopathy of prematurity screening and follow-up...
March 2017: Türk Pediatri Arşivi
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