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https://www.readbyqxmd.com/read/28543917/a-novel-pgm3-mutation-is-associated-with-a-severe-phenotype-of-bone-marrow-failure-severe-combined-immunodeficiency-skeletal-dysplasia-and-congenital-malformations
#1
Guillermo Pacheco-Cuéllar, Julie Gauthier, Valérie Désilets, Christian Lachance, Marlène Lemire-Girard, Françoise Rypens, Françoise Le Deist, Hélène Decaluwe, Michel Duval, Dorothée Bauron Dal Soglio, Victor Kokta, Élie Haddad, Philippe M Campeau
Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia and exome sequencing has led to the identification of new CDG genes . Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein which converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported. Through exome sequencing, we identified a novel homozygous mutation (c.1219T > C; p...
May 22, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28542443/effects-of-pressure-support-and-pressure-controlled-ventilation-on-lung-damage-in-a-model-of-mild-extrapulmonary-acute-lung-injury-with-intra-abdominal-hypertension
#2
Cintia L Santos, Raquel S Santos, Lillian Moraes, Cynthia S Samary, Nathane S Felix, Johnatas D Silva, Marcelo M Morales, Robert Huhle, Marcelo G Abreu, Alberto Schanaider, Pedro L Silva, Paolo Pelosi, Patricia R M Rocco
Intra-abdominal hypertension (IAH) may co-occur with the acute respiratory distress syndrome (ARDS), with significant impact on morbidity and mortality. Lung-protective controlled mechanical ventilation with low tidal volume and positive end-expiratory pressure (PEEP) has been recommended in ARDS. However, mechanical ventilation with spontaneous breathing activity may be beneficial to lung function and reduce lung damage in mild ARDS. We hypothesized that preserving spontaneous breathing activity during pressure support ventilation (PSV) would improve respiratory function and minimize ventilator-induced lung injury (VILI) compared to pressure-controlled ventilation (PCV) in mild extrapulmonary acute lung injury (ALI) with IAH...
2017: PloS One
https://www.readbyqxmd.com/read/28541396/prospective-disability-in-different-combinations-of-somatic-and-mental-multimorbidity
#3
Ana R Quiñones, Sheila Markwardt, Stephen Thielke, Ola Rostant, Elizabeth Vásquez, Anda Botoseneanu
BACKGROUND.: Multimorbidity (multiple co-occurring chronic conditions) may be an important contributor to disability and poor health-related quality of life. The functional consequences of specific combinations of somatic and mental health conditions are unclear. METHODS.: Nationally-representative prospective cohort study using the National Health and Aging Trends Study data of Medicare beneficiaries. We included 4,017 participants aged 65 years or older interviewed in 2013 and 2014...
May 24, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28540841/lung-or-heart-lung-transplant-in-pulmonary-arterial-hypertension-what-is-the-impact-of-systemic-sclerosis
#4
Shruti K Gadre, Omar A Minai, Xiao-Feng Wang, Qi Zhang, Marie Budev, Adriano R Tonelli
OBJECTIVES: Little is known about recipient characteristics and outcomes of patients with pulmonary arterial hypertension undergoing lung transplant, particularly those with systemic sclerosis-associated disease. Here, we describe the characteristics and outcomes of patients with pulmonary arterial hypertension undergoing lung transplant, focusing on systemic sclerosis-associated disease. MATERIALS AND METHODS: This retrospective study included pulmonary arterial hypertension patients undergoing lung or heart-lung transplant between July 1992 and August 2013 at a single center...
May 22, 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28538666/melatonin-attenuates-pulmonary-hypertension-in-chronically-hypoxic-rats
#5
Ming Wai Hung, Hang Mee Yeung, Chi Fai Lau, Angela Ming See Poon, George L Tipoe, Man Lung Fung
Chronic hypoxia induces pulmonary hypertension and vascular remodeling, which are clinically relevant to patients with chronic obstructive pulmonary disease (COPD) associated with a decreased level of nitric oxide (NO). Oxidative stress and inflammation play important roles in the pathophysiological processes in COPD. We examined the hypothesis that daily administration of melatonin (10 mg/kg) mitigates the pulmonary hypertension and vascular remodeling in chronically hypoxic rats. The right ventricular systolic pressure (RVSP) and the thickness of pulmonary arteriolar wall were measured from normoxic control, vehicle- and melatonin-treated hypoxic rats exposed to 10% O₂ for 14 days...
May 24, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28538274/prevalence-of-pulmonary-embolism-among-systemic-lupus-erythematosus-discharges-a-decade-of-analysis-of-the-national-hospital-discharge-survey
#6
Srinadh Annangi, Tirumala Rao Dammalapati, Snigdha Nutalapati, Marshaleen N Henriques King
INTRODUCTION: Pulmonary embolism (PE) is a life threatening preventable medical condition involving sudden occlusion of arteries within the lungs. Systemic lupus erythematosus (SLE) is an inflammatory disorder and therefore independently poses a risk of PE. We aimed to determine the association of SLE and PE using National Hospital Discharge Survey data, a national representative sample of hospital discharges throughout the United States. METHODS: Retrospective population-based analysis was done using National Hospital Discharge Survey data for the period 2001 to 2010...
June 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28538237/update-on-postnatal-steroids
#7
Henry L Halliday
Antenatal steroid treatment to enhance fetal lung maturity and surfactant treatment to prevent or treat respiratory distress syndrome have been major advances in perinatal medicine in the past 40 years contributing to improved outcomes for preterm infants. Use of postnatal steroids to prevent or treat chronic lung disease in preterm infants has been less successful and associated with adverse neurodevelopmental outcomes. Although early (in the first week of life) postnatal steroid treatment facilitates earlier extubation and reduces the risk of chronic lung disease, it is associated with adverse effects, such as hyperglycemia, hypertension, gastrointestinal bleeding and perforation, hypertrophic cardiomyopathy, growth failure, and cerebral palsy, and cannot be recommended...
2017: Neonatology
https://www.readbyqxmd.com/read/28533270/classical-activation-of-macrophages-and-vardenafil
#8
Richmond Muimo
Inhibitors of phosphodiesterase 5 (PDE5) - sildenafil citrate (Viagra; Pfizer) and vardenafil hydrochloride (Levitra; Bayer/GlaxoSmithKline) - approved for the treatment of erectile dysfunction and pulmonary arterial hypertension also rescue the loss of cystic fibrosis (CF) chloride channel function and the mislocalization of F508del-CFTR in affected tissues in CF. Can PDE5 inhibitors provide a therapeutic strategy which combines ability to correct the basic ion transport defect and to control de-regulated lung inflammation in CF?...
June 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28531365/a-rare-case-of-primary-ovarian-carcinoid
#9
Karan Saraf, Efterpi Tingi, Adrian Brodison, Sanjay Sinha
We present a rare case in an elderly Caucasian lady of primary ovarian carcinoid tumor, causing symptoms of the carcinoid syndrome and severe carcinoid heart disease. Carcinoid tumors are the commonest neuroendocrine tumors, the majority of which are found in the gastrointestinal tract and lungs. Ovarian carcinoids represent only 0.1% of all ovarian neoplasms and 1% of all carcinoid tumors. Carcinoid syndrome can present with flushing, diffuse watery diarrhea, wheezing and breathlessness and in advanced cases lead to carcinoid heart disease...
May 20, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28530520/cardiovascular-disease-and-gout-real-world-experience-evaluating-patient-characteristics-treatment-patterns-and-health-care-utilization
#10
Michael H Pillinger, Sripal Bangalore, Alyssa B Klein, Scott Baumgartner, Robert Morlock
BACKGROUND: Gout, hyperuricemia, and cardiovascular disease (CVD) are prevalent conditions in the United States, and while they share common risk factors such as obesity, hypertension, hypercholesterolemia, and type 2 diabetes mellitus, relatively little is known about what patient and disease characteristics may link CVD with hyperuricemia and gout and how the presence of both diseases affects management decisions differently than for patients with gout alone. OBJECTIVE: To identify differences in patient characteristics, patterns of urate-lowering therapy (ULT) use, and gout control in gout patients with and without cardiovascular comorbidity...
June 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28528703/does-fitness-improve-the-cardiovascular-risk-profile-in-obese-subjects
#11
H Halland, M T Lønnebakken, S Saeed, H Midtbø, D Cramariuc, E Gerdts
BACKGROUND AND AIMS: Good cardiorespiratory fitness has been suggested to reduce the risk of cardiovascular disease in obesity. We explored the association of fitness with the prevalences of major cardiovascular risk factor like hypertension (HT), diabetes and metabolic syndrome (MetS) in overweight and obese subjects. METHODS AND RESULTS: Clinical data from 491 participants in the FAT associated CardiOvasculaR dysfunction (FATCOR) study were analyzed. Physical fitness was assessed by ergospirometry, and subjects with at least good level of performance for age and sex were classified as fit...
April 26, 2017: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/28527964/impact-of-high-priority-allocation-on-lung-and-heart-lung-transplantation-for-pulmonary-hypertension
#12
Laurent Savale, Jérôme Le Pavec, Olaf Mercier, Sacha Mussot, Xavier Jaïs, Dominique Fabre, Caroline O'Connell, David Montani, François Stephan, Olivier Sitbon, Gérald Simonneau, Philippe Dartevelle, Marc Humbert, Elie Fadel
BACKGROUND: Since 2006 and 2007, patients in France with severe pulmonary hypertension (PH) who are at imminent risk of death, despite optimal treatment in the intensive care unit, are placed on a high-priority list (HPL) for heart-lung transplantation (HLT) or double-lung transplantation (DLT). We assessed the effect of this approach on the waiting list and outcomes after transplantation. METHODS: We conducted a single-center, retrospective, before-and-after study of consecutive patients with severe group 1, 1', or 4 PH listed for DLT or HLT between 2000 and 2013 (ie, 6 years before and 6 years after HPL implementation)...
May 18, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28527960/mortality-and-respiratory-failure-after-thoracoscopic-lung-biopsy-for-interstitial-lung-disease
#13
Michael T Durheim, Sunghee Kim, Brian C Gulack, William R Burfeind, Henning A Gaissert, Andrzej S Kosinski, Matthew G Hartwig
BACKGROUND: Surgical lung biopsy contributes to establishing a specific diagnosis among many patients with interstitial lung disease (ILD). The risks of death and respiratory failure associated with elective thoracoscopic surgical lung biopsy, and patient characteristics associated with these outcomes, are not well understood. METHODS: This is a retrospective cohort study of patients who underwent elective thoracoscopic lung biopsy for ILD between 2008 and 2014, according to The Society of Thoracic Surgeons database...
May 17, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28527879/ventricular-diastolic-pressure-ratio-as-a-marker-of-treatment-response-in-pulmonary-hypertension
#14
Arun Jose, Christopher S King, Oksana A Shlobin, Joseph M Kiernan, Nicolas A Cossa, A Whitney Brown, Steven D Nathan
BACKGROUND: Pulmonary hypertension (PH) is diagnosed and classified through right heart catheterization (RHC), with a number of hemodynamic markers used to help guide treatment decisions. These markers may not reflect the complex remodeling of the right ventricle or the interplay between ventricles, and struggle to predict treatment response. This study investigates the use of a novel marker; the ratio of left to right ventricular end-diastolic pressures (LVEDP/RVEDP), in predicting treatment outcomes in a cohort of PH patients...
May 17, 2017: Chest
https://www.readbyqxmd.com/read/28526539/diagnostic-accuracy-of-lung-subtraction-iodine-mapping-ct-for-the-evaluation-of-pulmonary-perfusion-in-patients-with-chronic-thromboembolic-pulmonary-hypertension-correlation-with-perfusion-spect-ct
#15
Masashi Tamura, Yoshitake Yamada, Takashi Kawakami, Masaharu Kataoka, Yu Iwabuchi, Hiroaki Sugiura, Masahiro Hashimoto, Tadaki Nakahara, Shigeo Okuda, Seishi Nakatsuka, Fumiya Sano, Takayuki Abe, Yuichiro Maekawa, Keiichi Fukuda, Masahiro Jinzaki
BACKGROUND: For treatment of chronic thromboembolic pulmonary hypertension (CTEPH), the evaluation of segmental pulmonary perfusion is important. There are no previous reports about lung subtraction iodine mapping (LSIM) computed tomography (CT) for evaluation of segmental pulmonary perfusion in patients with CTEPH, using lung perfusion SPECT/CT (LPS) as the reference. METHODS: 50 patients (age, 60.7±16.7years) with known or suspected CTEPH were enrolled in this study...
May 4, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28524210/sulfur-dioxide-foe-or-friend-for-life
#16
REVIEW
Xin-Bao Wang, Hong Cui, Xiaohong Liu, Jun-Bao Du
Sulfur dioxide (SO₂) is a toxic gas and air pollutant. The toxic effects of SO₂ have been extensively studied. Oxidative damage due to SO2 can occur in multiple organs. Inhaled SO₂ can also cause chromosomal aberrations, DNA damage and gene mutations in mammals. However, SO₂ can also be generated from the sulfur-containing amino acid, L-cysteine. Recent studies have shown that SO₂ has a vasorelaxant effect, and ameliorates pulmonary hypertension and vascular remodeling. SO₂ can also reduce lung injury and myocardial injury in rats...
May 19, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/28523018/effect-of-azithromycin-in-combination-with-simvastatin-in-the-treatment-of-chronic-obstructive-pulmonary-disease-complicated-by-pulmonary-arterial-hypertension
#17
Peidong Wang, Jie Yang, Yanwei Yang, Zhixin Ding
OBJECTIVE: To evaluate the effect of azithromycin in combination with simvastatin in the treatment of chronic obstructive pulmonary disease (COPD) complicated by pulmonary arterial hypertension. METHODS: Eighty-six patients who developed COPD and pulmonary arterial hypertension and received treatment from August 2013 to October 2014 were selected and randomly divided into an observation group and a control group using random number table, 43 in each group. Patients in the control group were orally administrated 20 mg of simvastatin, once a day...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28522681/endothelial-nox1-oxidase-assembly-in-human-pulmonary-arterial-hypertension-driver-of-gremlin1-mediated-proliferation
#18
Imad Al Ghouleh, Sanghamitra Sahoo, Daniel N Meijles, Jefferson H Amaral, Daniel S de Jesus, John Sembrat, Mauricio Rojas, Dmitry A Goncharov, Elena A Goncharova, Patrick J Pagano
Background: Pulmonary arterial hypertension (PAH) is a rapidly degenerating and devastating disease of increased pulmonary vessel resistance leading to right heart failure. Palliative modalities remain limited despite recent endeavors to investigate the mechanisms underlying increased pulmonary vascular resistance, i.e. aberrant vascular remodeling and occlusion. However, little is known of the molecular mechanisms responsible for endothelial proliferation, a root cause of PAH-associated vascular remodeling...
May 18, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28522568/peroxisome-proliferator-activated-receptor-gamma-enhances-human-pulmonary-artery-smooth-muscle-cell-apoptosis-through-microrna-21-and-programmed-cell-death-4
#19
David Emerson Green, Tamara C Murphy, Bum-Yong Kang, Brahmchetna Bedi, Zhihong Yuan, Ruxana T Sadikot, C Michael Hart
Pulmonary hypertension (PH) is a progressive disorder whose cellular pathogenesis involves enhanced smooth muscle cell (SMC) proliferation and resistance to apoptosis signals. Existing evidence demonstrates that the tumor suppressor, programmed cell death 4 (PDCD4) affects patterns of cell growth and repair responses in the systemic vasculature following experimental injury. In the current study, the regulation PDCD4 and its functional effects on growth and apoptosis susceptibility in pulmonary artery smooth muscle cells was explored...
May 18, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28521513/astragalus-polysaccharides-attenuate-monocrotaline-induced-pulmonary-arterial-hypertension-in-rats
#20
Lin-Bo Yuan, Chun-Yan Hua, Sheng Gao, Ya-Ling Yin, Mao Dai, Han-Yan Meng, Piao-Piao Li, Zhong-Xin Yang, Qing-Hua Hu
Astragalus polysaccharides (APS) have been shown to possess a variety of biological activities including anti-oxidant and anti-inflammation functions in a number of diseases. However, their function in pulmonary arterial hypertension (PAH) is still unknown. Rats received APS (200[Formula: see text]mg/kg once two days) for 2 weeks after being injected with monocrotaline (MCT; 60[Formula: see text]mg/kg). The pulmonary hemodynamic index, right ventricular hypertrophy, and lung morphological features of the rat models were examined, as well as the NO/eNOS ratio of wet lung and dry lung weight and MPO...
May 18, 2017: American Journal of Chinese Medicine
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