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https://www.readbyqxmd.com/read/28727978/pulmonary-neuroendocrine-cell-hyperplasia-in-hemoglobin-bart-induced-hydrops-fetalis-a-model-for-chronic-intrauterine-hypoxia
#1
Mana Taweevisit, Boochit Theerasantipong, Kanlaya Taothong, Paul Scott Thorner
The pulmonary neuroendocrine system includes pulmonary neuroendocrine cells (PNECs) and neuroepithelial bodies (NEBs) that are distributed throughout respiratory epithelium and regulate lung growth and maturation antenatally. Abnormalities in this system have been linked to many hypoxia-associated pediatric pulmonary disorders. Hemoglobin (Hb) Bart disease is a severe form of α-thalassemia resulting in marked intrauterine hypoxia with hydrops fetalis (HF) and usually death in utero. Affected fetuses can serve as a naturally occurring human model for the effects of intrauterine hypoxia, and we postulated that these effects should include changes in the pulmonary neuroendocrine system...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28727140/respiratory-sinus-arrhythmia-in-the-fourth-decade-of-life-depends-on-birth-weight-and-the-drd4-gene-implications-for-understanding-the-development-of-emotion-regulation
#2
Calan Savoy, Karen J Mathewson, Louis A Schmidt, Katherine M Morrison, John E Krzeczkowski, Ryan J Van Lieshout
INTRODUCTION: The long allele of the DRD4 gene can confer different behavioral and emotional phenotypes depending upon environmental exposure, although the physiological changes underlying these phenotypes are not fully known. We sought to extend this work by assessing the interaction of the DRD4 gene and exposure to perinatal adversity (indexed by extremely low birth weight [ELBW]) on resting respiratory sinus arrhythmia (RSA), a neurophysiological measure of emotion regulation, in adulthood...
July 20, 2017: Developmental Psychobiology
https://www.readbyqxmd.com/read/28726663/-peculiarities-of-community-acquired-pneumonia-in-children-with-neurological-pathology
#3
O Zubarenko, G Kopiyka, T Kravchenko, L Koval, K Gurienko
Neurological disorders in children highly affect the course of pneumonia, its outcome and the development of possible complications. The aim of the study was to reveal clinical and paraclinical features of community-acquired pneumonia in younger children with neurologic pathology infantile cerebral palsy. Under observation were 37 children with community-acquired pneumonia aged 1 to 3 years that suffered from spastic forms of infantile cerebral palsy. The comparison group consisted of 30 children with community-acquired pneumonia without any concomitant neurological pathology...
June 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28724562/the-role-of-macrophages-in-interstitial-lung-diseases-number-3-in-the-series-pathology-for-the-clinician-edited-by-peter-dorfm%C3%A3-ller-and-alberto-cavazza
#4
Giulio Rossi, Alberto Cavazza, Paolo Spagnolo, Salvatore Bellafiore, Elisabetta Kuhn, Pierpaolo Carassai, Laura Caramanico, Gloria Montanari, Gaia Cappiello, Alessandro Andreani, Francesca Bono, Nazarena Nannini
The finding of collections of macrophages/histiocytes in lung biopsy and bronchoalveolar lavage is relatively common in routine practice. This morphological feature in itself is pathological, but the exact clinical significance and underlying disease should be evaluated together with clinical data, functional respiratory and laboratory tests and imaging studies.Morphological characteristics of macrophages and their distribution along the different pulmonary structures should be examined carefully by pathologists...
September 30, 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28723759/determining-the-relationship-of-kinesiophobia-with-respiratory-functions-and-functional-capacity-in-ankylosing-spondylitis
#5
Göktuğ Er, Ender AngIn
Ankylosing spondylitis (AS) is a common inflammatory rheumatic disease that affects the axial skeleton, causes inflammatory lower back pain, and structural and functional disorders, which affect quality of life negatively.The purpose of this study is to investigate the effects of kinesiophobia in AS on pulmonary function tests (PFTs) and functional performance.Thirty-one individuals with AS (n = 19 male, n = 12 female) who were suitable on the basis of the Modified New York (MNY) criteria were included in the study...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28723552/immunology-of-food-allergy
#6
REVIEW
Leticia Tordesillas, M Cecilia Berin, Hugh A Sampson
Many consider food allergy as the "second wave" of the allergy epidemic following the "first wave" of respiratory allergy, i.e., asthma and allergic rhinitis, plaguing westernized countries, with up to 8% of young children and 2%-3% of adults in the United States now affected by hypersensitivity reactions to various foods. In the past decade, there have been great strides in our understanding of the underlying immunopathogenesis of these disorders, which have led to improved diagnostic techniques, management strategies, and therapeutic approaches...
July 18, 2017: Immunity
https://www.readbyqxmd.com/read/28722461/-disorders-of-water-and-electrolyte-metabolism-and-changes-in-acid-base-balance-in-patients-with-ascitic-liver-cirrhosis
#7
Halima Gottfriedová, Miroslava Horáčková, Milena Čáslavská, Julius Špičák, Otto Schück
In patients with advanced cirrhosis with ascites disorders of water and electrolyte metabolism are often present and they are associated with changes in acid-base balance. These changes can be very complicated, their diagnosis and treatment difficult. Dilutional hyponatremia is the most common disorder. Hyponatremia in these patients is associated with increased morbidity and mortality before and after liver transplantation. Other common disorders include hyperchloremic acidosis, hypokalemia, metabolic alkalosis, lactic acidosis, respiratory alkalosis...
2017: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/28721821/current-perspectives-for-the-use-of-gonane-progesteronergic-drugs-in-the-treatment-of-central-hypoventilation-syndromes
#8
Camille Loiseau, Florence Cayetanot, Fanny Joubert, Anne-Sophie Perrin-Terrin, Philippe Cardot, Marie-Noëlle Fiamma, Alain Frugiere, Christian Straus, Laurence Bodineau
BACKGROUND: Central alveolar hypoventilation syndromes (CHS) encompass neurorespiratory diseases resulting from congenital or acquired neurological disorders. Hypercapnia, acidosis, and hypoxemia resulting from CHS negatively affect physiological functions and can be life-threatening. To date, the absence of pharmacological treatment implies that the patients must receive assisted ventilation throughout their lives. OBJECTIVE: To highlight the relevance of determining conditions in which using gonane synthetic progestins could be of potential clinical interest for the treatment of CHS...
July 19, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28721156/obstructive-sleep-apnea-and-hormones-a-novel-insight
#9
Marek Ruchała, Barbara Bromińska, Ewa Cyrańska-Chyrek, Barbara Kuźnar-Kamińska, Magdalena Kostrzewska, Halina Batura-Gabryel
Obstructive sleep apnea (OSA), a disorder characterized by repetitive collapse of the upper respiratory tract during sleep, occurs in about 4% of middle-aged men and 2% of women. The incidence of the disorder is rising due to an increase in obesity and ageing of the population. Patients with obstructive sleep apnea are at elevated risk of some endocrinal and metabolic disorders, which may lead to serious consequences including shortening of life expectancy. The recognition and understanding of interactions between local upper airway dysfunction and its endocrinal consequences is therefore vital...
June 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28720601/a-case-of-progressive-orthopnoea-and-shoulder-pain-secondary-to-bilateral-diaphragmatic-paralysis
#10
Anna Herbert, Waseem Asrar Khan, Salem Madi
A 45-year-old man with a raised body mass index presented with an acute history of right lower chest pain and increasing breathlessness. C reactive protein, D dimer and cardiac echocardiography were negative, with mild bibasal atelectasis the only positive reported finding from erect chest X-ray and CT pulmonary angiogram. He was discharged with antibiotics for a chest infection. He remained severely breathless and was referred to the sleep-related breathing disorders clinic. He described shoulder pain, daytime tiredness and sleeping upright due to a ââ'¬Ëœsuffocatingââ'¬â"¢ sensation...
July 18, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28720214/-hypophosphatasia-clinical-manifestations-diagnostic-recommendations-and-therapeutic-options
#11
Gabriel A Martos-Moreno, Joan Calzada, María L Couce, Jesús Argente
Hypophosphatasia is a very rare bone metabolism disorder caused by a deficiency in alkaline phosphatase activity, due to mutations in the ALPL gene. Its clinical hallmark is the impairment of skeletal and teeth mineralisation, although extra-skeletal manifestations are frequent. Its phenotypic spectrum is widely variable from a subtype with exclusive odontological impairment (odontohypophosphatasia) to five subtypes with systemic involvement, classified according to the age at the onset of the first symptoms (four of them in the paediatric age range: perinatal lethal, perinatal benign, infant and childhood hypophosphatasia)...
July 15, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28719515/anaesthetic-management-of-patients-with-myopathies
#12
Mark Schieren, Jerome Defosse, Andreas Böhmer, Frank Wappler, Mark U Gerbershagen
: The anaesthetic management of patients with myopathies is challenging. Considering the low incidence and heterogeneity of these disorders, most anaesthetists are unfamiliar with key symptoms, associated co-morbidities and implications for anaesthesia. The pre-anaesthetic assessment aims at the detection of potentially undiagnosed myopathic patients and, in case of known or suspected muscular disease, on the quantification of disease progression. Ancillary testing (e.g. echocardiography, ECG, lung function testing etc...
July 15, 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28719049/pulmonary-vein-stenosis-in-patients-with-smith-lemli-opitz-syndrome
#13
Aaron R Prosnitz, Jane Leopold, Mira Irons, Kathy Jenkins, Amy E Roberts
OBJECTIVE: To describe a group of children with co-incident pulmonary vein stenosis and Smith-Lemli-Opitz syndrome and to generate hypotheses as to the shared pathogenesis of these disorders. DESIGN: Retrospective case series. PATIENTS: Five subjects in a pulmonary vein stenosis cohort of 170 subjects were diagnosed with Smith-Lemli-Opitz syndrome soon after birth. RESULTS: All five cases were diagnosed with Smith-Lemli-Opitz syndrome within 6 weeks of life, with no family history of either disorder...
July 18, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28718683/the-measurement-of-cough-response-to-bronchoconstriction-induced-by-methacholine-inhalation-in-healthy-subjects-an-examination-using-the-astograph-method
#14
Johsuke Hara, Masaki Fujimura, Noriyuki Ohkura, Tamami Sakai, Kenta Yamamura, Miki Abo, Hayato Koba, Satoshi Watanabe, Taro Yoneda, Shingo Nishikawa, Takashi Sone, Hideharu Kimura, Yoshihisa Ishiura, Kazuo Kasahara
BACKGROUND: We demonstrated that heightened cough response to bronchoconstriction is a fundamental feature of cough variant asthma (CVA). To evaluate this physiological feature of CVA in daily clinical practice, it is necessary to clarify the cough response to bronchoconstriction in healthy subjects. We evaluated cough response to methacholine (MCh)-induced bronchoconstriction in healthy subjects. A forced oscillometry technique was used to measure airway resistance changes with Mch. METHODS: Healthy never-smokers (21 men, 20 women; mean 22...
July 18, 2017: Experimental Lung Research
https://www.readbyqxmd.com/read/28718185/congenital-pulmonary-lymphangiectasia-a-disorder-not-only-of-fetoneonates
#15
Shi-Min Yuan
Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder of the lung, characterized by dilation of pulmonary subpleural, interlobar, perivascular and peribronchial lymphatics. The incidence of CPL among stillborn and neonates was estimated to be <1%. The etiology of CPL is unknown. However, it has been suspected to be of a genetic background. Recent basic studies revealed that it might be caused by the FOXC2, Vegfr-3 and integrin α9β1gene mutations. A clinical diagnosis of CPL can be made much easier in full-term neonates who present with respiratory distress, pleural (especially chylous) effusions with or without generalized edema...
July 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28716975/metabolic-phenotype-in-the-mouse-model-of-osteogenesis-imperfecta
#16
Iris Boraschi-Diaz, Josephine T Tauer, Omar El Rifai, Delphine Guillemette, Geneviève Lefebvre, Frank Rauch, Mathieu Ferron, Svetlana V Komarova
Osteogenesis Imperfecta (OI) is the most common heritable bone fragility disorder, usually caused by dominant mutations in genes coding for collagen type I alpha chains, COL1A1 or COL1A2. Osteocalcin is now recognized as a bone-derived regulator of insulin secretion and sensitivity and glucose homeostasis. Since OI is associated with increased rates of bone formation and resorption, we hypothesized that the levels of undercarboxylated osteocalcin are increased in OI. The objective of this study was to determine changes in osteocalcin and to elucidate the metabolic phenotype in the Col1a1Jrt/+ mouse, a model of dominant OI caused by a Col1a1 mutation...
July 17, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28716914/metabolic-profiles-of-exercise-in-patients-with-mcardle-disease-or-mitochondrial-myopathy
#17
Nigel F Delaney, Rohit Sharma, Laura Tadvalkar, Clary B Clish, Ronald G Haller, Vamsi K Mootha
McArdle disease and mitochondrial myopathy impair muscle oxidative phosphorylation (OXPHOS) by distinct mechanisms: the former by restricting oxidative substrate availability caused by blocked glycogen breakdown, the latter because of intrinsic respiratory chain defects. We applied metabolic profiling to systematically interrogate these disorders at rest, when muscle symptoms are typically minimal, and with exercise, when symptoms of premature fatigue and potential muscle injury are unmasked. At rest, patients with mitochondrial disease exhibit elevated lactate and reduced uridine; in McArdle disease purine nucleotide metabolites, including xanthine, hypoxanthine, and inosine are elevated...
July 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28716227/mitochondrial-trna-genes-are-hotspots-for-mutations-in-a-cohort-of-patients-with-exercise-intolerance-and-mitochondrial-myopathy
#18
Yuanyuan Lu, Danhua Zhao, Sheng Yao, Shiwen Wu, Daojun Hong, Qingqing Wang, Jing Liu, Jan A M Smeitink, Yun Yuan, Zhaoxia Wang
OBJECTIVE: Mitochondrial myopathy (MM) is a relatively rare type of mitochondrial disorder characterized by predominant skeletal muscle involvement. Both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) mutations have been reported as the genetic causes of this disease. Here, we described the clinical and genetic features of a cohort of patients with MM. METHODS: We conducted a retrospective, single center study enrolling 22 patients with clinically and myopathologically diagnosed MM...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28716044/type-2-diabetes-is-associated-with-an-increased-prevalence-of-respiratory-symptoms-as-compared-to-the-general-population
#19
F De Santi, G Zoppini, F Locatelli, E Finocchio, V Cappa, M Dauriz, G Verlato
BACKGROUND: To estimate the prevalence of respiratory symptoms in individuals with type 2 diabetes, as compared to the general population. METHODS: Between 2007 and 2010 the screening questionnaire of GEIRD (Gene Environment Interactions in Respiratory Diseases) study was administered to two samples of Verona general population, aged respectively 45-64 years and 65-84 years, and to a convenience sample of individuals with type 2 diabetes, consequently recruited at the local Diabetes Centre...
July 17, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28715922/dlk1-dio3-imprinted-locus-deregulation-in-development-respiratory-disease-and-cancer
#20
Jhon R Enterina, Katey Ss Enfield, Christine Anderson, Erin A Marshall, Kevin W Ng, Wan L Lam
The imprinted DLK1-DIO3 locus at 14q32.1-32.31 holds biological significance in fetal development, whereby imprinting errors are causal to developmental disorders. Emerging evidence has implicated this locus in other diseases including cancer, highlighting the biological parallels between fetal organ and tumour development. Areas covered: Controlled regulation of gene expression from the imprinted DLK1-DIO3 locus at 14q32.1-32.31 is crucial for proper fetal development. Deregulation of locus gene expression due to imprinting errors has been mechanistically linked to the developmental disorders Kagami-Ogata Syndrome and Temple Syndrome...
July 18, 2017: Expert Review of Respiratory Medicine
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