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https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#1
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28635909/-chronic-obstructive-pulmonary-disease-concurrent-with-metabolic-syndrome-pathophysiological-and-clinical-features
#2
A V Budnevsky, E S Ovsyannikov, N B Labzhania
Chronic obstructive pulmonary disease (COPD) still remains a serious public health problem, which is a common cause of disability and death in the able-bodied population. Furthermore, the number of patients with metabolic syndrome (MS) is steadily increasing worldwide. Recently, there is also an increase in the number of patients with COPD concurrent with MS, which is a mutually confounding risk factor for concomitant cardiovascular disease and adversely affects prognosis in these patients. Systemic subclinical inflammation is a common link between COPD and the components of MS...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28634363/long-term-health-outcomes-in-patients-with-prader-willi-syndrome-a-nationwide-cohort-study-in-denmark
#3
E Hedgeman, S P Ulrichsen, S Carter, N C Kreher, K P Malobisky, M M Braun, J Fryzek, M S Olsen
BACKGROUND: Prader-Willi syndrome (PWS) is a rare congenital disease that affects growth, sexual development, cognitive function and behavior. Individuals exhibit food preoccupation and hyperphagia, which may lead to obesity with premature morbidity and mortality. The aim of this work was to evaluate the risk of venous thromboembolisms (VTE), myocardial infarction, pulmonary hypertension, sleep apnea, depression, anxiety and all-cause mortality among persons with PWS as compared to an age- and sex-matched general population cohort...
June 21, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28634225/homeobox-transcription-factor-nkx2-1-promotes-cyclin-d1-transcription-in-lung-adenocarcinomas
#4
Masanori Harada, Satoshi Sakai, Tatsuya Ohhata, Kyoko Kitagawa, Masashi Mikamo, Koji Nishimoto, Chiharu Uchida, Hiroyuki Niida, Yojiro Kotake, Haruhiko Sugimura, Takafumi Suda, Masatoshi Kitagawa
The known oncogene cyclin D1 (CCND1) participates in progression of the cell cycle from G1 to S phase. Expression of cyclin D1 is frequently promoted in multiple human cancers including non-small cell lung cancer (NSCLC). However, a relationship between cyclin D1 expression and the prognosis of NSCLC has not been confirmed. NKX2-1 is a homeobox transcription factor involved in pulmonary development as a differentiation-promoting factor. In NSCLC, it acts as a metastasis suppressor and correlates with a good prognosis...
June 20, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28633707/qualitative-analysis-of-biological-tuberculosis-samples-by-an-electronic-nose-based-artificial-neural-network
#5
E I Mohamed, M A Mohamed, M H Moustafa, S M Abdel-Mageed, A M Moro, A I Baess, S M El-Kholy
OBJECTIVE: To apply an e-nose system for monitoring headspace volatiles in biological samples from Egyptian patients with active pulmonary tuberculosis (TB) and healthy controls (HCs) and compare them with standard sputum analysis. DESIGN: The study population comprised 260 (140 males, 120 females) newly diagnosed TB patients and 240 (120 males, 120 females) HCs matched by age and socio-economic level admitted to hospitals specialising in chest diseases in Alexandria, Behera, Giza and Damietta Governorates, Egypt...
July 1, 2017: International Journal of Tuberculosis and Lung Disease
https://www.readbyqxmd.com/read/28633676/evaluation-of-p16-expression-in-canine-appendicular-osteosarcoma
#6
B G Murphy, M Y Mok, D York, R Rebhun, K D Woolard, C Hillman, P Dickinson, K Skorupski
BACKGROUND: Osteosarcoma (OSA) is a common malignant bone tumor of large breed dogs that occurs at predictable anatomic sites. At the time of initial diagnosis, most affected dogs have occult pulmonary metastases. Even with aggressive surgical treatment combined with chemotherapy, the majority of dogs diagnosed with OSA live less than 1 year from the time of diagnosis. The ability to identify canine OSA cases most responsive to treatment is needed. In humans, OSA is also an aggressive tumor that is histologically and molecularly similar to canine OSA...
June 20, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28633546/identification-of-specific-antibodies-against-the-ag85c-mpt51-hspx-fusion-protein-cmx-for-serological-screening-of-tuberculosis-in-endemic-area
#7
Adrielle Zagmignan, Adeliane Castro da Costa, José Lima Viana, Lídio Gonçalves Lima Neto, Cristina de Andrade Monteiro, Ariosvaldo Guimarães Gaioso Neto, Ana Paula Junqueira Kipnis, Eduardo M de Sousa
OBJECTIVES: Development of new tools for rapid and accurate diagnosis of tuberculosis (TB) is considered a strategy for controlling the disease. The recombinant CMX fusion protein is composed of immunodominant epitopes of the Ag85C (Rv0129c), MPT51 (Rv3803c) and the entire HspX (Rv2031c) proteins from Mycobacterium tuberculosis H37Rv (Mtb). The aim of this study was to evaluate the applicability of a test using the CMX protein in individuals suspected of TB. METHODS: Indirect ELISA was used to measure serum anti-CMX IgM and IgG in individuals with pulmonary TB...
June 21, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28633267/perventricular-implantation-of-melody-valve-in-child-with-pulmonary-hypertension-after-a-potts-shunt
#8
Tomasz Mroczek, Marcin Demkow, Tomasz Moszura, Aleksandra Morka, Janusz Skalski
The Potts operation is a surgical option for the treatment of children with suprasystemic pulmonary arterial hypertension (PAH). Its positive hemodynamic effect may be obliterated by pulmonary valvar insufficiency. We describe a case in which the Potts shunt was followed by perventricular Melody valve implantation in the pulmonary position in a 12-kg child with a previously repaired truncus arteriosus communis (TAC) in whom PAH developed. The combined approach using both procedures significantly improved functional capacity and led to spectacular reverse remodeling of the right ventricle seen at 2-year follow-up...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28633223/primary-pulmonary-vein-stenosis-outcomes-risk-factors-and-severity-score-in-a-multicentric-study
#9
David Kalfa, Emre Belli, Emile Bacha, Virginie Lambert, Duccio di Carlo, Martin Kostolny, Jukka Salminen, Matej Nosal, Alain Poncelet, Jurgen Horer, Hakan Berggren, Illya Yemets, Mark Hazekamp, Bohdan Maruszewski, George Sarris, Marco Pozzi, Tjark Ebels, François Lacour-Gayet
BACKGROUND: Primary pulmonary vein stenosis (PPVS) still carries a poor prognosis, and prognostic factors remain controversial. The aim of this study was to determine outcomes and prognostic factors after PPVS repair in the current era. METHODS: Thirty patients with PPVS and a normal pulmonary vein (PV) connection operated on in 10 European/North American centers (2000-2012) were included retrospectively. A specific PVS severity score was developed based on the assessment of each PV...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28633157/epidemiology-practice-of-ventilation-and-outcome-for-patients-at-increased-risk-of-postoperative-pulmonary-complications-an-observational-study-in-29-countries
#10
(no author information available yet)
BACKGROUND: Limited information exists about the epidemiology and outcome of surgical patients at increased risk of postoperative pulmonary complications (PPCs), and how intraoperative ventilation was managed in these patients. OBJECTIVES: To determine the incidence of surgical patients at increased risk of PPCs, and to compare the intraoperative ventilation management and postoperative outcomes with patients at low risk of PPCs. DESIGN: This was a prospective international 1-week observational study using the 'Assess Respiratory Risk in Surgical Patients in Catalonia risk score' (ARISCAT score) for PPC for risk stratification...
June 20, 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28631387/umeclidinium-bromide-versus-placebo-for-people-with-chronic-obstructive-pulmonary-disease-copd
#11
REVIEW
Han Ni, Aung Htet, Soe Moe
BACKGROUND: People with chronic obstructive pulmonary disease (COPD) have poor quality of life, reduced survival, and accelerated decline in lung function, especially associated with acute exacerbations, leading to high healthcare costs. Long-acting bronchodilators are the mainstay of treatment for symptomatic improvement, and umeclidinium is one of the new long-acting muscarinic antagonists approved for treatment of patients with stable COPD. OBJECTIVES: To assess the efficacy and safety of umeclidinium bromide versus placebo for people with stable COPD...
June 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28630635/effect-of-abnormal-savda-munziq-a-traditional-uighur-herbal-medicine-on-pulmonary-function-and-aquaporins-of-copd-rat-model-with-abnormal-savda-syndrome
#12
Gao Zhen, Halmurat Upur, Wang Jing, Jing Jing, Li Zheng, Xu Dan, Li Fengsen
OBJECTIVE: To investigate the effect of abnormal savda munziq (ASM) on the pulmonary function and expression of lung-specific aquaporins in the rat model of chronic obstructive pulmonary disease with abnormal savda syndrome (ASSCOPD). METHODS: Eighty male rats were randomized into ASSCOPD, COPD, and control groups. ASSCOPD was further categorized into ASM and non-ASM groups. COPD model was established by combining fumigation with airway instillation of elastase; ASSCOPD model was developed based on COPD by induction with dry cold diet, cold dry environment, and plantar electric stimulation...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28629803/development-of-mpc-dpa-polymeric-nanoparticle-systems-for-inhalation-drug-delivery-applications
#13
Abdul Khaliq Elzhry Elyafi, Guy Standen, Steven T Meikle, Andrew L Lewis, Jonathan P Salvage
Inhalation of nanoparticles for pulmonary drug delivery offers the potential to harness nanomedicine formulations of emerging therapeutics, such as curcumin, for treatment of lung cancer. Biocompatible nanoparticles composed of poly(2-methacryloyloxyethyl phosphorylcholine)-b-poly(2-(diisopropylamino)ethyl methacrylate) (MPC-DPA) have been shown to be suitable nanocarriers for drugs, whilst N-trimethyl chitosan chloride (TMC) coating of nanoparticles has been reported to further enhance their cellular delivery efficacy; the combination of the two has not been previously investigated...
June 16, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28629672/the-safety-profile-of-subcutaneous-allergen-immunotherapy-in-children-with-asthma-in-hangzhou-east-china
#14
J-L Liu, W-X Ning, S-X Li, Y-C Xu, L Wu, Y-S Wang, X-F Xu, Y Jiang, Y-J Sheng, Y-L Zhou, J-H Wang, L-F Tang, Z-M Chen
BACKGROUND: The aim of the current study is to evaluate the prevalence, severity and possible risk factors of systemic reactions (SRs) to subcutaneous allergen immunotherapy (SCIT) in children and adolescents with asthma in Hangzhou, east China's Zhejiang province. METHODS: From January 2011 to December 2016, this survey analysed the SCIT-related SRs involving 429 patients (265 children and 134 adolescents) affected by allergic asthma. Recorded data included demographics, diagnosis, patient statuses, pulmonary function testing results before and after each injection, allergen dosage, and details of SRs...
June 16, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28628863/simultaneous-quantification-of-endothelin-receptor-antagonists-and-phosphodiesterase-5-inhibitors-currently-used-in-pulmonary-arterial-hypertension
#15
Yeliz Enderle, Lukas Witt, Heinrike Wilkens, Ekkehard Grünig, Walter E Haefeli, Jürgen Burhenne
Combination treatment with endothelin receptor antagonists (ERA) and phosphodiesterase 5 inhibitors (PDE5I) improved efficacy of pulmonary arterial hypertension (PAH) therapy. However, drug-drug interactions, variable exposure, non-adherence can influence plasma levels. For these reasons, drug quantification may be advantageous particularly in patients with poor treatment responses. We developed, validated, and applied an assay for the simultaneous quantification of ambrisentan, bosentan, macitentan, sildenafil, and tadalafil as well as their main (and partly active) metabolites in human plasma...
June 10, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28628641/hypersensitivity-pneumonitis-onset-and-severity-is-regulated-by-cd103-dendritic-cell-expression
#16
Emilie Bernatchez, Anick Langlois, Julyanne Brassard, Nicolas Flamand, David Marsolais, Marie-Renée Blanchet
BACKGROUND: Pulmonary dendritic cells drive lung responses to foreign antigens, including Saccharopolyspora rectivirgula, a causative agent of hypersensitivity pneumonitis. While the airway inflammatory mechanisms involved in hypersensitivity pneumonitis are well described, the mechanisms leading to the break in homeostasis and hypersensitivity pneumonitis onset are not well-described, and could involve CD103+ dendritic cells, which are found at baseline and during inflammatory responses in the lung...
2017: PloS One
https://www.readbyqxmd.com/read/28627661/altered-expression-of-ppar%C3%A2-%C3%AE-and-trpc-in-neonatal-rats-with-persistent-pulmonary-hypertension
#17
Yanna Du, Jianhua Fu, Li Yao, Lin Qiao, Na Liu, Yujiao Xing, Xindong Xue
Persistent pulmonary hypertension of the newborn (PPHN) is a life‑threatening disease that is commonly observed in the neonatal intensive care unit. PPHN is pathologically characterized by pulmonary vascular remodeling and, in particular, pulmonary artery smooth muscle cell (PASMC) proliferation. Decreased expression levels of peroxisome proliferator‑activated receptor γ (PPAR‑γ), which is a member of the nuclear receptor hormone superfamily, in combination with elevated expressions of transient receptor potential cation channel, subfamily C, member 1 (TRPC1) and TRPC6 contributes to the PASMC proliferation and excessive pulmonary vascular remodeling in adult pulmonary hypertension (PH)...
June 9, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28627093/characterization-of-thrombosis-in-patients-with-proteus-syndrome
#18
Kim M Keppler-Noreuil, Jay N Lozier, Julie C Sapp, Leslie G Biesecker
Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. We found that six of ten patients, who were deceased, died secondary to deep venous thrombosis and/or pulmonary embolism...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28627012/effect-of-betamethasone-on-fetal-pulmonary-and-umbilical-artery-doppler-velocimetry-and-relationship-with-respiratory-distress-syndrome-development
#19
Emre Sinan Güngör, Gülşah İlhan, Hüseyin Gültekin, Ali Galip Zebitay, Serdar Cömert, Fatma Ferda Verit
OBJECTIVES: Respiratory distress syndrome (RDS) is a major cause of neonatal morbidity and mortality. It is primarily a disease of premature neonates. The aim of this study was to evaluate the impact of maternal betamethasone administration on the fetal pulmonary arteries (PAs) and umbilical arteries (UAs) and the correlation between RDS development and PA Doppler results. METHODS: Forty singleton pregnancies between 24 and 34 gestational weeks with a diagnosis of preterm birth were included prospectively...
June 19, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28626902/haemophilus-influenzae-oral-vaccination-for-preventing-acute-exacerbations-of-chronic-bronchitis-and-chronic-obstructive-pulmonary-disease
#20
REVIEW
Edward Teo, Kathleen Lockhart, Sai Navya Purchuri, Jennifer Pushparajah, Allan W Cripps, Mieke L van Driel
BACKGROUND: Chronic bronchitis and chronic obstructive pulmonary disease (COPD) are serious conditions in which patients are predisposed to viral and bacterial infections resulting in potentially fatal acute exacerbations. Chronic obstructive pulmonary disease is defined as a lung disease characterised by obstruction to lung airflow that interferes with normal breathing. Antibiotic therapy has not been particularly useful in eradicating bacteria such as non-typeable Haemophilus influenzae (NTHi) because they are naturally occurring flora of the upper respiratory tract in many people...
June 19, 2017: Cochrane Database of Systematic Reviews
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