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https://www.readbyqxmd.com/read/29150126/hypertrophic-cardiomyopathy
#1
REVIEW
Juan José Santos Mateo, María Sabater Molina, Juan Ramón Gimeno Blanes
Hypertrophic cardiomyopathy is the most common inherited cardiovascular disease. It is characterized by increased ventricular wall thickness and is highly complex due to its heterogeneous clinical presentation, several phenotypes, large number of associated causal mutations and broad spectrum of complications. It is caused by mutations in sarcomeric proteins, which are identified in up to 60% of cases of the disease. Clinical manifestations of Hypertrophic Cardiomyopathy include shortness of breath, chest pain, palpitations and syncope, which are related to the onset of diastolic dysfunction, left ventricular outflow tract obstruction, ischemia, atrial fibrillation and abnormal vascular responses...
November 14, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/29145311/pulmonary-hypertension-as-a-manifestation-of-mitochondrial-disease-a-case-report-and-review-of-the-literature
#2
Shan Xu, Xiaoling Xu, Jisong Zhang, Kejing Ying, Yuquan Shao, Ruifeng Zhang
BACKGROUND: Mitochondrial diseases are a group of multisystem heterogeneous diseases caused by pathologic dysfunction of the mitochondrial respiratory chain. A wide range of clinical expression has been described. However, pulmonary hypertension has rarely been described in association with mitochondrial disease until the past decade, and there is no currently recognized treatment for the pulmonary hypertension complicated with mitochondrial disorder. PATIENT CONCERNS: We reported the case of a 15-year-old boy who presented with shortness of breath and exercise limitation after a cold, and the diagnosis of pulmonary hypertension was confirmed by right heart catheter...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29141272/peripheral-airway-dysfunction-and-relationship-with-symptoms-in-smokers-with-preserved-spirometry
#3
Kanika Jetmalani, Cindy Thamrin, Claude S Farah, Amy Bertolin, David G Chapman, Norbert Berend, Cheryl M Salome, Gregory G King
BACKGROUND AND OBJECTIVE: Smokers develop respiratory symptoms and peripheral airway dysfunction even when spirometry is preserved. Multiple breath nitrogen washout (MBNW) and impulse oscillometry system (IOS) are potentially useful measures of peripheral airway function but they have not been compared in such subjects. We hypothesized that MBNW and IOS are jointly abnormal in smokers with normal spirometry and that these abnormalities relate to respiratory symptoms. METHODS: Eighty smokers with normal spirometry completed a symptom questionnaire, had ventilation heterogeneity in diffusion (Sacin) and convection-dependent (Scond) airways and trapped gas volume at functional residual capacity as a percentage of vital capacity (%VtrFRC/VC) measured by MBNW...
November 15, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/29135910/sleep-disordered-breathing-in-children-with-recurrent-wheeze-asthma-a-single-centre-study
#4
Marco Zaffanello, Emma Gasperi, Laura Tenero, Michele Piazza, Angelo Pietrobelli, Luca Sacchetto, Franco Antoniazzi, Giorgio Piacentini
The relationship between asthma and sleep-disordered breathing is bidirectional due to common risk factors that promote airway inflammation. Obstructive sleep-disordered breathing and recurrent wheeze/asthma are conditions that involve the upper and the lower respiratory system, respectively. The aim of the present study was to investigate the sleep disordered breathing in children with recurrent wheeze/asthma. This was a retrospective study concerning children older than 2 years who underwent-between January 2014 and November 2016-an in-laboratory overnight polygraphic study...
November 14, 2017: Children
https://www.readbyqxmd.com/read/29122413/differences-between-subjective-and-objective-assessment-of-speech-deficiency-in-parkinson-disease
#5
Wioletta Pawlukowska, Aleksandra Szylińska, Dariusz Kotlęga, Iwona Rotter, Przemysław Nowacki
OBJECTIVES: This study aims to establish the frequency at which patients with Parkinson disease subjectively assess the intensity of their speech disorders, factors that the patients believe determine the severity of their vocal impairment, and how their subjective self-assessment of vocal impairment by means of the Voice Handicap Index compares with the objective evaluation of the performance of the articulatory organs by means of Frenchay Dysarthria Assessment. MATERIALS AND METHODS: The methods used Voice Handicap Index, Frenchay Dysarthria Assessment, and the Hoehn and Yahr scale...
November 6, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/29122399/-sleep-apneas-metabolic-syndrome-and-cardiovascular-risk-data-from-the-pays-de-la-loire-sleep-cohort
#6
REVIEW
F Gagnadoux, P Priou, T Urban, N Meslier, W Trzepizur
Obstructive sleep apnea-hypopnea syndrome (OSAHS) is a prevalent disease characterized by recurrent episodes of partial or complete obstruction of upper airway during sleep. Untreated moderate to severe OSAHS is recognized as a cardiovascular (CV) risk factor. Data from the Pays de la Loire sleep cohort and other clinic- or population-based cohorts demonstrate a strong association between OSAHS and the different components of the metabolic syndrome including systemic hypertension, diabetes and impaired lipid metabolism...
November 6, 2017: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/29114876/translating-carotid-body-function-into-clinical-medicine
#7
Rodrigo Iturriaga
The carotid body (CB) is considered the main O2 chemoreceptor, which contributes to the cardiorespiratory homeostasis and ventilatory acclimatization. In clinical medicine, the most common pathology associated with the CB are tumours. However, a growing body of evidences supports the novel idea that an enhanced CB chemosensory discharge contributes to the autonomic dysfunction and pathological consequences in obstructive sleep apnoea (OSA), hypertension, systolic heart failure (HF) and cardiometabolic diseases...
November 8, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/29110883/linear-and-nonlinear-parameters-of-heart-rate-variability-in-ischemic-stroke-patients
#8
V Constantinescu, D Matei, V Costache, D Cuciureanu, C Arsenescu-Georgescu
INTRODUCTION: Cardiovascular system presents cortical modulation. Post-stroke outcome can be highly influenced by autonomic nervous system disruption. Heart rate variability (HRV) analysis is a simple non-invasive method to assess sympatho-vagal balance. OBJECTIVES: The purpose of this study was to investigate cardiac autonomic activity in ischemic stroke patients and to asses HRV nonlinear parameters beside linear ones. METHODS: We analyzed HRV parameters in 15 right and 15 left middle cerebral artery ischemic stroke patients, in rest condition and during challenge (standing and deep breathing)...
October 11, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29107740/autonomic-function-testing-compliance-and-consequences
#9
Thorsten Kamlarczyk Rasmussen, John Hansen, Phillip A Low, Paola Sandroni, Wolfgang Singer, Troels Staehelin Jensen, Astrid Juhl Terkelsen
BACKGROUND: The deep breathing test (DB) and Valsalva maneuver (VM) are used to detect autonomic dysfunction. The VM induces sympathetically mediated changes in blood pressure (phase II late, phase IV, and recovery time) and both tests induce vagally mediated heart rate changes. There is limited information on effects of key variables, compliance with testing and the effects of non-compliance This study has twin goals of evaluating compliance with standard instructions and the effects of changes in key variables...
October 18, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/29103945/central-sympathetic-nervous-system-reinforcement-in-obstructive-sleep-apnoea
#10
REVIEW
Magdalena Wszedybyl-Winklewska, Jacek Wolf, Arkadiusz Szarmach, Pawel J Winklewski, Edyta Szurowska, Krzysztof Narkiewicz
The available studies on cerebrovascular reactivity and cerebral oxygenation in obstructive sleep apnoea (OSA) patients brought conflicting results, yet the overall evidence suggests that resting state cerebral perfusion is diminished in these patients. Interestingly, in a group of healthy professional breath-hold divers who are exercising very long apnoeas - episodes corresponding to the ones observed in patients with OSA - demonstrated that cerebral oxygenation may remain stable at the expense of extreme sympathetic nervous system (SNS) activation...
September 9, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29103943/from-oral-facial-dysfunction-to-dysmorphism-and-the-onset-of-pediatric-osa
#11
REVIEW
Christian Guilleminault, Yu-Shu Huang
The upper airway is a collapsible tube, and its collapsibility increases during sleep. Extrinsic factors such as atypical craniofacial features may increase the risks of airway collapse. We review early development of oral-facial structures and the anatomical variants that may be present at birth and can impact nasal breathing. After birth, there is a continuous interaction between orofacial functions and growth of anatomic features. We review the dysfunctions identified to date that may impact orofacial development leading to sleep-disordered-breathing through changes in the orofacial growth...
July 6, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29098737/structural-and-functional-differences-in-phox2b-frameshift-mutations-underlie-isolated-or-syndromic-congenital-central-hypoventilation-syndrome
#12
Simona Di Lascio, Roberta Benfante, Eleonora Di Zanni, Silvia Cardani, Annalisa Adamo, Diego Fornasari, Isabella Ceccherini, Tiziana Bachetti
Heterozygous mutations in the PHOX2B gene are causative of Congenital Central Hypoventilation Syndrome (CCHS), a neurocristopathy characterised by defective autonomic control of breathing due to the impaired differentiation of neural crest cells (NCCs). Among PHOX2B mutations, polyalanine (polyAla) expansions are almost exclusively associated with isolated CCHS, whereas frameshift variants, although less frequent, are often more severe than polyAla expansions and identified in syndromic CCHS. This paper provides a complete review of all the frameshift mutations identified in cases of isolated and syndromic CCHS reported in the literature as well as those identified by us and not yet published...
November 2, 2017: Human Mutation
https://www.readbyqxmd.com/read/29098550/enteric-glial-dysfunction-evoked-by-apolipoprotein-e-deficiency-contributes-to-delayed-gastric-emptying
#13
Seiichiro Fukuhara, Tatsuhiro Masaoka, Soraya Nishimura, Masaya Nakamura, Juntaro Matsuzaki, Hitoshi Tsugawa, Sawako Miyoshi, Hideki Mori, Satoshi Kawase, Shinsuke Shibata, Hideyuki Okano, Takanori Kanai, Hidekazu Suzuki
BACKGROUND AND AIM: Diabetes is the main cause of gastroparesis accompanying decreased neuronal nitric oxide synthase (nNOS) in myenteric ganglia of the stomach. Decreased nNOS expression in the stomach also results from defects in apolipoprotein E (ApoE), which is secreted by astrocytes and has neuroprotective effects on the central nervous system. However, the roles of ApoE and enteric glial cells on gastric motility are uncertain. In this study, ApoE and enteric glial cell alterations in gastroparesis were investigated...
November 2, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29097771/subclinical-pulmonary-dysfunction-contributes-to-high-altitude-pulmonary-edema-susceptibility-in-healthy-non-mountaineers
#14
Rajinder K Gupta, Poonam Soree, Koundinya Desiraju, Anurag Agrawal, Shashi Bala Singh
HAPE susceptible (HAPE-S, had HAPE episode in past) subjects may have subclinical cardio-pulmonary dysfunction. We compared the results of pulmonary function tests in 25 healthy HAPE-S non-mountaineers and 19 matched HAPE resistant (HAPE-R, no HAPE episode in past). Acute normobaric hypoxia (FIo2 0.12) was administered at sea level to confirm hypoxia intolerance in HAPE-S. Unlike HAPE-R, HAPE-S subjects had elevated baseline and post-hypoxia systolic pulmonary arterial pressures (20.9 ± 3 vs 27.3 ± 5 mm Hg during normoxia and 26...
November 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29095855/impaired-memory-consolidation-in-children-with-obstructive-sleep-disordered-breathing
#15
Kiran Maski, Erin Steinhart, Hannah Holbrook, Eliot S Katz, Kush Kapur, Robert Stickgold
Memory consolidation is stabilized and even enhanced by sleep (and particularly by 12-15 Hz sleep spindles in NREM stage 2 sleep) in healthy children but it is unclear what happens to these processes when sleep is disturbed by obstructive sleep disordered breathing. This cross-sectional study investigates differences in declarative memory consolidation among children with primary snoring (PS) and obstructive sleep apnea (OSA) compared to controls. We further investigate whether memory consolidation group differences are associated with NREM stage 2 (N2) sigma (12-15 Hz) or NREM slow oscillation (0...
2017: PloS One
https://www.readbyqxmd.com/read/29084357/adverse-events-associated-with-medium-and-long-term-use-of-opioids-for-chronic-non-cancer-pain-an-overview-of-cochrane-reviews
#16
REVIEW
Charl Els, Tanya D Jackson, Diane Kunyk, Vernon G Lappi, Barend Sonnenberg, Reidar Hagtvedt, Sangita Sharma, Fariba Kolahdooz, Sebastian Straube
BACKGROUND: Chronic pain is common and can be challenging to manage. Despite increased utilisation of opioids, the safety and efficacy of long-term use of these compounds for chronic non-cancer pain (CNCP) remains controversial. This overview of Cochrane Reviews complements the overview entitled 'High-dose opioids for chronic non-cancer pain: an overview of Cochrane Reviews'. OBJECTIVES: To provide an overview of the occurrence and nature of adverse events associated with any opioid agent (any dose, frequency, or route of administration) used on a medium- or long-term basis for the treatment of CNCP in adults...
October 30, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29081004/cardiovascular-autonomic-dysfunction-in-patients-with-idiopathic-diabetes-insipidus
#17
Mattia Barbot, Filippo Ceccato, Marialuisa Zilio, Nora Albiger, Riccardo Sigon, Giuseppe Rolma, Marco Boscaro, Carla Scaroni, Franca Bilora
INTRODUCTION: Central diabetes insipidus (DI) is a rare disease characterized by the excretion of excessive volumes of dilute urine due to reduced levels of the antidiuretic hormone arginine vasopressin (AVP), caused by an acquired or genetic defect in the neurohypophysis. The aim of this study was to identify any autonomic dysfunction (AD) in patients with DI as a possible cofactor responsible for their reportedly higher mortality. METHODS: The study involved 12 patients (6 females) with central idiopathic DI and a well-controlled electrolyte balance, and 12 controls matched for age, sex and cardiovascular risk factors, who were assessed using the tilt, lying-to-standing, hand grip, deep breath, Valsalva maneuver and Stroop tests...
October 28, 2017: Pituitary
https://www.readbyqxmd.com/read/29080401/reactive-oxygen-species-as-signaling-molecules-in-the-development-of-lung-fibrosis
#18
REVIEW
Francisco J Gonzalez-Gonzalez, Navdeep Chandel, Manu Jain, G R Scott Budinger
Pulmonary fibrosis is a relatively rare but devastating disease characterized by the excessive deposition of extracellular matrix. The increased matrix results in reduced lung compliance and increased work of breathing, while the obliteration of alveolar-capillary structures can result in hypoxemia and pulmonary hypertension, which manifests clinically as worsening shortness of breath, respiratory failure, and death. Unbiased genome-wide association studies combined with animal models suggest that damage to the alveolar epithelium is the initiating factor in pulmonary fibrosis...
October 10, 2017: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/29075622/autistic-siblings-with-novel-mutations-in-two-different-genes-insight-for-genetic-workups-of-autistic-siblings-and-connection-to-mitochondrial-dysfunction
#19
Barrett J Burger, Shannon Rose, Sirish C Bennuri, Pritmohinder S Gill, Marie L Tippett, Leanna Delhey, Stepan Melnyk, Richard E Frye
The prevalence of autism spectrum disorder (ASD) is high, yet the etiology of this disorder is still uncertain. Advancements in genetic analysis have provided the ability to identify potential genetic changes that may contribute to ASD. Interestingly, several genetic syndromes have been linked to metabolic dysfunction, suggesting an avenue for treatment. In this case study, we report siblings with ASD who had similar initial phenotypic presentations. Whole exome sequencing (WES) revealed a novel c.795delT mutation in the WDR45 gene affecting the girl, which was consistent with her eventual progression to a Rett-like syndrome phenotype including seizures along with a stereotypical cyclic breathing pattern...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29074702/respiratory-consequences-of-targeted-losses-of-hoxa5-gene-function-in-mice
#20
Kim Landry-Truchon, Stéphanie Fournier, Nicolas Houde, Jean-Philippe Rousseau, Lucie Jeannotte, Richard Kinkead
Fetal development of the respiratory tract and diaphragm requires strict coordination between genetically controlled signals and mechanical forces produced by the neural network that generates breathing. Being expressed in the mesenchyme of trachea, lung and diaphragm, and in phrenic motoneurons HOXA5 is a key transcription factor regulating lung development and function. Consequently, most Hoxa5(-/-) mutants die at birth from respiratory failure. However, the extensive effect of the null mutation makes it difficult to identify the origins of respiratory dysfunction in newborns...
October 26, 2017: Journal of Experimental Biology
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