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Hypoventilation

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https://www.readbyqxmd.com/read/28453783/sleep-related-breathing-disorders-in-chiari-malformation-type-1-a-prospective-study-of-90-patients
#1
Álex Ferré, Maria A Poca, Maria D de la Calzada, Dulce Moncho, Odile Romero, Gabriel Sampol, Juan Sahuquillo
Study objective: The aim of the present study is to describe the prevalence of sleep disorders in a large group of patients with Chiari malformation type 1 (CM-1) and determine the presence of risk factors associated with these abnormalities. Methods: Prospective study with consecutive patient selection. We included 90 adult patients with CM-1, defined by the presence of a cerebellar tonsillar descent (TD) ≥3mm. Clinical, neuroradiological studies and nocturnal polysomnography (PSG) was carried out...
April 27, 2017: Sleep
https://www.readbyqxmd.com/read/28449486/the-prevalence-of-pulmonary-hypertension-in-patients-with-obesity-hypoventilation-syndrome-a-prospective-observational-study
#2
Aljohara S Almeneessier, Samar Z Nashwan, Mostafa Q Al-Shamiri, Seithikurippu R Pandi-Perumal, Ahmed S BaHammam
BACKGROUND: One important cardiovascular morbidity that is associated with obesity hypoventilation syndrome (OHS) is the development of pulmonary hypertension (PH). However, few studies have assessed PH in OHS patients. Therefore, we prospectively assessed the prevalence of PH in a large sample of OHS patients. METHODS: In this prospective observational study, all consecutive OHS patients referred to the sleep disorders clinic during the study period were included...
March 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28446134/assessment-of-perioperative-minute-ventilation-in-obese-versus-non-obese-patients-with-a-non-invasive-respiratory-volume-monitor
#3
Jaideep H Mehta, Davide Cattano, Jordan B Brayanov, Edward E George
BACKGROUND: Monitoring the adequacy of spontaneous breathing is a major patient safety concern in the post-operative setting. Monitoring is particularly important for obese patients, who are at a higher risk for post-surgical respiratory complications and often have increased metabolic demand due to excess weight. Here we used a novel, noninvasive Respiratory Volume Monitor (RVM) to monitor ventilation in both obese and non-obese orthopedic patients throughout their perioperative course, in order to develop better monitoring strategies...
April 26, 2017: BMC Anesthesiology
https://www.readbyqxmd.com/read/28433712/common-phox2b-poly-alanine-contractions-impair-ret-gene-transcription-predisposing-to-hirschsprung-disease
#4
Eleonora Di Zanni, Annalisa Adamo, Elga Belligni, Margherita Lerone, Giuseppe Martucciello, Girolamo Mattioli, Alessio Pini Prato, Roberto Ravazzolo, Margherita Silengo, Tiziana Bachetti, Isabella Ceccherini
HSCR is a congenital disorder of the enteric nervous system, characterized by the absence of neurons along a variable length of the gut resulting from loss-of-function RET mutations. Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mutations of the PHOX2B gene, mostly polyalanine (polyA) expansions but also missense, nonsense, and frameshift mutations, while polyA contractions are common in the population and believed neutral...
April 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28418206/anti-nmda-receptor-encephalitis-during-pregnancy-a-case-report-and-literature-review
#5
Xue Xiao, Shunping Gui, Peng Bai, Yi Bai, Dan Shan, Yayi Hu, Tri M Bui-Nguyen, Rong Zhou
Anti-N-methyl-d-aspartate receptor (anti-NMDA-R) encephalitis is an autoimmune disorder that was first described by Dr Vitaliani in 2005. In 2007, Dalmau et al. found anti-NMDA-R antibody expressed both in the hippocampus and prefrontal nerve cell membrane, finally proposing the diagnosis of autoimmune anti-NMDA-R encephalitis. Most of the patients are female (91%), with ages ranging from 4 to 76 years. The average age is 23 years, a birth peak age, although anti-NMDA-R encephalitis is rare during pregnancy...
April 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28411135/silent-sinus-syndrome%C3%A2-a-traumatic-case
#6
E Février, C Vandersteen, L Castillo, C Savoldelli
INTRODUCTION: Silent sinus syndrome is an unusual cause of progressive enophthalmos and hypoglobus due to atelectasia of the maxillary sinus associated with osteolysis of the orbital floor. This syndrome is classically idiopathic, but the term is also used to describe traumatic or iatrogenic (surgical orbital decompression) cases. CASE REPORT: We report the case of a 33-year-old man who presented with a left orbital trauma without functional disorder. Computed tomography (CT) scan revealed a nondisplaced fracture of the left orbital floor...
April 11, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28410878/efficacy-of-laronidase-therapy-in-patients-with-mucopolysaccharidosis-type-i-who-initiated-enzyme-replacement-therapy-in-adult-age-a-systematic-review-and-meta-analysis
#7
Jordi Pérez-López, Montserrat Morales-Conejo, Mónica López-Rodríguez, Álvaro Hermida-Ameijeiras, Marc Moltó-Abad
BACKGROUND: The efficacy of starting enzyme replacement therapy (ERT) in adults with Muchopolysaccharidosis Type I (MPS-I) is controversial. Evaluating the benefits reported by patients initiating ERT with laronidase at adult age might help physicians decide whether the use of ERT in these patients is worthwhile from a clinical point of view. OBJECTIVE: To assess every effectiveness variable modified in MPS-I patients who initiated laronidase at adult age. METHODS: A systematic search of the literature, from inception to July 2016, was conducted using MEDLINE, EMBASE, CENTRAL and LILACS to identify randomized trials or observational studies including ≥1 MPS-I patients with ERT initiated in adult age (≥18years) and evaluating ERT efficacy...
April 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28408467/isolated-mild-sleep-associated-hypoventilation-in-children-with-down-syndrome
#8
Wai Wong, Dennis Rosen
INTRODUCTION: Children with Down syndrome (DS) have a high incidence of obstructive sleep apnea (OSA) that is often associated with hypoventilation. Little is known, however, about the prevalence of sleep-associated hypoventilation independent of OSA in these children. METHODS: Retrospective chart review of all children with DS under 18 years of age undergoing polysomnography at a tertiary care paediatric hospital during a 2-year period. Exclusion criteria were as follow: those requiring oxygen or positive-pressure ventilation; with tracheostomy, baseline hypoxia, unrepaired cyanotic heart disease, pulmonary hypertension, and cerebral palsy; or OSA with >5 obstructions/hour...
April 13, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28402445/de-novo-p-t362r-mutation-in-morc2-causes-early-onset-cerebellar-ataxia-axonal-polyneuropathy-and-nocturnal-hypoventilation
#9
Ginevra Zanni, Marta Nardella, Sabina Barresi, Emanuele Bellacchio, Marcello Niceta, Andrea Ciolfi, Stefano Pro, Stefano D'Arrigo, Marco Tartaglia, Enrico Bertini
No abstract text is available yet for this article.
April 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28397994/prevalence-of-obesity-hypoventilation-syndrome-in-ambulatory-obese-patients-attending-pathology-laboratories
#10
Jean-Christian Borel, Fabrice Guerber, Ingrid Jullian-Desayes, Marie Joyeux-Faure, Nathalie Arnol, Nellie Taleux, Renaud Tamisier, Jean-Louis Pépin
BACKGROUND AND OBJECTIVE: The prevalence of obesity hypoventilation syndrome (OHS) in the unselected obese is unknown. Our objectives were: (i) to determine the prevalence of OHS in ambulatory obese patients not previously referred to a pulmonologist for suspicion of sleep breathing disorders and (ii) to assess whether venous bicarbonate concentration [HCO3(-)v ] can be used to detect OHS. METHODS: In this prospective multicentric study, we measured [HCO3(-)v ] in consenting obese patients attending pathology analysis laboratories...
April 11, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28397169/sleep-disordered-breathing-in-duchenne-muscular-dystrophy
#11
REVIEW
Antonella LoMauro, Maria Grazia D'Angelo, Andrea Aliverti
This review aims to explain the inevitable imbalance between respiratory load, drive, and muscular force that occurs in the natural aging of Duchenne muscular dystrophy and that predisposes these patients to sleep disordered breathing (SDB). In DMD, SDB is characterized by oxygen desaturation, apneas, hypercapnia, and hypoventilation during sleep and ultimately develops into respiratory failure during wakefulness. It can be present in all age groups. Young patients risk obstructive apneas because of weight gain, secondary to progressive physical inactivity and prolonged corticosteroid therapy; older patients hypoventilate and desaturate because of respiratory muscle weakness, in particular the diaphragm...
May 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28396755/diagnosis-of-myxedema-coma-complicated-by-renal-failure-a-case-report
#12
Akiteru Takamura, Ryusho Sangen, Yoshiki Furumura, Daisuke Usuda, Yuji Kasamaki, Tsugiyasu Kanda
Myxedema coma, caused by severe lack of thyroid hormone, is characterized by deterioration of mental status, hypothermia, hypotension, hyponatremia, and hypoventilation. We describe an 84-year-old woman who presented with renal failure and new onset severe hypothyroidism leading to challenges in the recognition of myxedema coma.
April 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28396201/pharmacological-but-not-genetic-alteration-of-neural-epo-modifies-the-co2-h-central-chemosensitivity-in-postnatal-mice
#13
Sofien Laouafa, Anne-Sophie Perrin-Terrin, Florine Jeton, Elizabeth Elliot-Portal, Rose Tam, Laurence Bodineau, Nicolas Voituron, Jorge Soliz
Cerebral erythropoietin (Epo) plays a crucial role for respiratory control in newborn rodents. We showed previously that soluble Epo receptor (sEpoR: an Epo antagonist) reduces basal ventilation and hypoxic hyperventilation at postnatal day 10 (P10) and in adult mice. However, at these ages (P10 and adulthood), Epo had no effect on central chemosensitivity. Nevertheless, it is known that the sensitivity to CO2/H(+) during the mammalian respiratory network maturation process is age-dependent. Accordingly, in this study we wanted to test the hypothesis that cerebral Epo is involved in the breathing stimulation induced by the activation of central CO2/H(+) chemoreceptors at earlier postnatal ages...
April 8, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28372949/sleep-disordered-breathing-in-neuromuscular-disease-diagnostic-and-therapeutic-challenges
#14
REVIEW
Loutfi S Aboussouan, Eduardo Mireles-Cabodevila
Normal sleep related rapid eye movement sleep atonia, reduced lung volumes, reduced chemosensitivity, and impaired airway dilator activity, become significant vulnerabilities in the setting of neuromuscular disease. In that context, the compounding effects of respiratory muscle weakness and disease-specific features that promote upper airway collapse or cause dilated cardiomyopathy, contribute to various sleep-disordered breathing events. The reduction in lung volumes with neuromuscular disease is further compromised by sleep and the supine position, exaggerating the tendency for upper airway collapse and desaturation with sleep-disordered breathing events...
March 31, 2017: Chest
https://www.readbyqxmd.com/read/28372678/randomized-trial-of-a-novel-double-lumen-nasopharyngeal-catheter-versus-traditional-nasal-cannula-during-total-intravenous-anesthesia-for-gastrointestinal-procedures
#15
Adam B King, Bret D Alvis, Douglas Hester, Susan Taylor, Michael Higgins
STUDY OBJECTIVE: Patients undergoing general anesthesia routinely experience episodes of hypoxemia. There are multiple causes of procedural oxygen desaturation including upper airway obstruction and central hypoventilation. We hypothesize that oxygen supplementation via nasopharyngeal catheter (NPC) will decrease the number of episodes of hypoxemia as compared to traditional NC oxygen supplementation in patients undergoing general anesthesia provided by an anesthesia provider for gastrointestinal endoscopy procedures...
May 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28371199/nonsense-pathogenic-variants-in-exon-1-of-phox2b-lead-to-translational-reinitiation-in-congenital-central-hypoventilation-syndrome
#16
Jacob T Cain, Dae I Kim, Megan Quast, Winnie G Shivega, Ryan J Patrick, Chuanpit Moser, Suzanne Reuter, Myrza Perez, Angela Myers, Jill M Weimer, Kyle J Roux, Megan Landsverk
Pathogenic variants in PHOX2B lead to congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by autonomic dysregulation and hypoventilation typically presenting in the neonatal period, although a milder late-onset (LO) presentation has been reported. More than 90% of cases are caused by polyalanine repeat mutations (PARMs) in the C-terminus of the protein; however non-polyalanine repeat mutations (NPARMs) have been reported. Most NPARMs are located in exon 3 of PHOX2B and result in a more severe clinical presentation including Hirschsprung disease (HSCR) and/or peripheral neuroblastic tumors (PNTs)...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28367478/central-hypoventilation-in-progressive-supranuclear-palsy
#17
Kory S Herrick, Randy Woltjer, Thao Pham, Megan Chalupsky, Amie L Hiller
Central hypoventilation, also known as Ondine's curse, results from an impairment of the autonomic respiratory drive. It is characterized by an attenuated or absent respiratory response to hypoxemia and hypercapnia with preservation of volitional respiratory function. RJ was a 75-year-old woman with a diagnosis of probably PSP who developed central hypoventilation approximately four years after her initial onset of symptoms. Brain MRI showed no evidence of medullary lesions, one of the more common causes of adult onset central hypoventilation...
January 2017: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28367294/decrease-in-spectral-entropy-by-low-tidal-volume-ventilation-associated-severe-hypercapnia-a-case-report
#18
Junggun Ann, Sung Mee Jung, Sang-Jin Park
Severe hypercapnia can be predicted by a decrease in cerebral electrical activity. The authors describe a sudden decrease in spectral entropy due to severe hypercapnia-induced respiratory acidosis in a patient with chronic pulmonary obstructive disease during lung resection. After two and a half hours of low tidal volume ventilation in the lateral position, the state entropy suddenly dropped from 45 to 7, without any changes in the effect-site concentration of propofol, end-tidal carbon dioxide (CO2) tension, oxygen saturation, or arterial pressure...
April 2017: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/28360244/evaluation-of-an-alternative-care-provider-clinic-for-severe-sleep-disordered-breathing-a-study-protocol-for-a-randomised-controlled-trial
#19
Ada Ip-Buting, Jenny Kelly, Maria J Santana, Erika D Penz, W Ward Flemons, Willis H Tsai, Kristin L Fraser, Patrick J Hanly, Sachin R Pendharkar
INTRODUCTION: Despite the high prevalence of sleep-disordered breathing (SDB) and the significant health consequences associated with untreated disease, access to diagnosis and treatment remains a challenge. Even patients with severe SDB (severe obstructive sleep apnoea or hypoventilation), who are at particularly high risk of adverse health effects, are subject to long delays. Previous research has demonstrated that, within a sleep clinic, management by alternative care providers (ACPs) is effective for patients with milder forms of SDB...
March 29, 2017: BMJ Open
https://www.readbyqxmd.com/read/28356171/a-case-of-abnormally-abnormal-hypoxic-ventilatory-responses-a-novel-nparm-phox2b-gene-mutation
#20
Stefan A Unger, Maude Guillot, Donald S Urquhart
Congenital central hypoventilation syndrome (CCHS) is a rare disorder associated with dysregulation of the autonomic ventilatory response to hypoxia and hypercarbia usually caused by polyalanine repeat expansion mutations in the PHOX2B gene. Non-polyalanine repeat mutations (NPARM) represent approximately 10% of cases, and usually require continuous ventilation during sleep, although our knowledge of disease progression is limited. Here we present a case with a novel NPARMCCHS mutation associated with a premature stop codon for the PHOX2B protein...
March 28, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
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