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Hypoventilation Syndromes

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Congenital Central Hypoventilation Syndrome in Neonates: Report of Fourteen New Cases and A Review of the Literature

Liling Qian, Mei Mei, Lin Yang, Yulan Lu, Laishuan Wang, Guoqiang Cheng, Yun Cao, Chao Chen, Wenhao Zhou,

<title>Abstract</title> <p> <bold>Background:</bold> Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disorder caused by pathogenic variants in <italic>PHOX2B</italic> gene. Characteristics of neonatal-onset CCHS cases have not been well assessed. Our study aimed to expand current knowledge of clinical and genetic features of neonates with CCHS and ... Read more >>

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Positive airway pressure in obesity hypoventilation syndrome: is it worth it?

Amanda Piper, Jean Louis Pépin, Nicholas Hart,

Thorax (Thorax)
[2020, :]

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Cost-effectiveness of positive airway pressure modalities in obesity hypoventilation syndrome with severe obstructive sleep apnoea.

Juan F Masa, Babak Mokhlesi, Iván Benítez, Francisco Javier Gómez de Terreros Caro, M-Ángeles Sánchez-Quiroga, Auxiliadora Romero, Candela Caballero, Maria Luz Alonso-Álvarez, Estrella Ordax-Carbajo, Teresa Gómez-García, Mónica González, Soledad López-Martín, Jose M Marin, Sergi Martí, Trinidad Díaz-Cambriles, Eusebi Chiner, Carlos Egea, Javier Barca, Francisco-José Vázquez-Polo, Miguel Angel Negrín, María Martel-Escobar, Ferran Barbé, Jaime Corral-Peñafiel, ,

BACKGROUND:Obesity hypoventilation syndrome (OHS) is treated with either non-invasive ventilation (NIV) or CPAP, but there are no long-term cost-effectiveness studies comparing the two treatment modalities. OBJECTIVES:We performed a large, multicentre, randomised, open-label controlled study to determine the comparative long-term cost and effectiveness of NIV versus CPAP in patients with OHS ... Read more >>

Thorax (Thorax)
[2020, :]

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The Role of Positive Airway Pressure Therapy in Adults with Obesity Hypoventilation Syndrome. A Systematic Review and Meta-Analysis.

Majid Afshar, Jan L Brozek, Israa Soghier, Maximiliano Tamae Kakazu, Kevin C Wilson, Juan Fernando Masa, Babak Mokhlesi,

Rationale: Obesity hypoventilation syndrome (OHS) is an undesirable complication of severe obesity. Although weight loss is an accepted component of management, it is difficult to achieve and sustain the degree of weight loss necessary to reverse OHS. As such, positive airway pressure (PAP) during sleep has become the cornerstone therapy ... Read more >>

Ann Am Thorac Soc (Annals of the American Thoracic Society)
[2020, 17(3):344-360]

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Nocturnal hypoventilation in Down syndrome children with or without sleep apnea.

Nicolas Richard, Nicole Beydon, Laura Berdah, Harriet Corvol, Guillaume Aubertin, Jessica Taytard,

BACKGROUND:There is a high prevalence of obstructive sleep apnea (OSA) in children with Down syndrome (DS), sometimes associated with alveolar hypoventilation. OBJECTIVE:To compare transcutaneous partial pressure of carbon dioxide (PtcCO2 ) and pulse oximetry (SpO2 ) in children with DS and in control children with OSA. PATIENTS AND METHODS:This retrospective ... Read more >>

Pediatr. Pulmonol. (Pediatric pulmonology)
[2020, :]

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Continuous professional development: elevating sleep andbreathing disorder education in Europe.

Sophia E Schiza, Winfried Randerath, Manuel Sánchez-de-la-Torre, Andrea Aliverti, MariaR Bonsignore, Anita K Simonds, Pierantonio Laveneziana,

The @EuroRespSoc launches a new sleep and breathing disorders continuous professional development programme http://bit.ly/30PU01P. ... Read more >>

Breathe (Sheff) (Breathe (Sheffield, England))
[2020, 16(1):190336]

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Echocardiographic Changes with Positive Airway Pressure Therapy in Obesity Hypoventilation Syndrome. Long-Term Pickwick Randomized Controlled Clinical Trial.

Juan F Masa, Babak Mokhlesi, Iván Benítez, Maria Victoria Mogollon, Francisco Javier Gomez de Terreros, Maria Ángeles Sánchez-Quiroga, Auxiliadora Romero, Candela Caballero-Eraso, Maria Luz Alonso-Álvarez, Estrella Ordax-Carbajo, Teresa Gomez-Garcia, Mónica González, Soledad López-Martín, José M Marin, Sergi Martí, Trinidad Díaz-Cambriles, Eusebi Chiner, Carlos Egea, Javier Barca, Francisco-José Vázquez-Polo, Miguel A Negrín, María Martel-Escobar, Ferran Barbe, Jaime Corral, ,

Rationale: Obesity hypoventilation syndrome (OHS) has been associated with cardiac dysfunction. However, randomized trials assessing the impact of long-term noninvasive ventilation (NIV) or continuous positive airway pressure (CPAP) on cardiac structure and function assessed by echocardiography are lacking.Objectives: In a prespecified secondary analysis of the largest multicenter randomized controlled trial ... Read more >>

Am. J. Respir. Crit. Care Med. (American journal of respiratory and critical care medicine)
[2020, 201(5):586-597]

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Positive Airway Pressure in Obesity Hypoventilation: Getting to the Heart of the Matter.

Amanda J Piper, Edmund M Lau,

Am. J. Respir. Crit. Care Med. (American journal of respiratory and critical care medicine)
[2020, 201(5):509-511]

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AVAPS-AE versus ST mode: A randomized controlled trial in patients with obesity hypoventilation syndrome.

Maxime Patout, Frédéric Gagnadoux, Claudio Rabec, Wojciech Trzepizur, Marjolaine Georges, Christophe Perrin, Renaud Tamisier, Jean-Louis Pépin, Claudia Llontop, Valerie Attali, Frederic Goutorbe, Sandrine Pontier-Marchandise, Pierre Cervantes, Vanessa Bironneau, Adriana Portmann, Jacqueline Delrieu, Antoine Cuvelier, Jean-François Muir,

BACKGROUND AND OBJECTIVE:Average volume-assured pressure support-automated expiratory positive airway pressure (AVAPS-AE) combines an automated positive expiratory pressure to maintain upper airway patency to an automated pressure support with a targeted tidal volume. The aim of this study was to compare the effects of 2-month AVAPS-AE ventilation versus pressure support (ST) ... Read more >>

Respirology (Respirology (Carlton, Vic.))
[2020, :]

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Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years.

Megumi Tsuji, Mio Tanaka, Yukichi Tanaka, Azusa Ikeda, Yu Tsuyusaki, Tomohide Goto, Mizue Iai,

Patients with infantile Alexander disease (AxD) usually do not survive beyond their early teens without life support care because of progressive central hypoventilation. We present the autopsy report of a woman with infantile AxD carrying an R239C mutation in the glial fibrillary acidic protein gene, who survived 39 years. She ... Read more >>

Neuropediatrics (Neuropediatrics)
[2020, :]

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Slow-frequency electroencephalography activity during wake and sleep in obesity hypoventilation syndrome.

Sheila Sivam, Joseph Poon, Keith K H Wong, Brendon J Yee, Amanda J Piper, Angela L D'Rozario, David Wang, Ronald R Grunstein,

STUDY OBJECTIVE:Neurophysiological activity during wake and sleep states in obesity hypoventilation (OHS) and its relationship with neurocognitive function is not well understood. This study compared OHS with equally obese obstructive sleep apnea (OSA) patients, with similar apnea-hypopnea indices. METHODS:Resting wake and overnight sleep electroencephalography (EEG) recordings, neurocognitive tests, and sleepiness, ... Read more >>

Sleep (Sleep)
[2020, 43(2):]

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The Effect of Hospital Discharge with Empiric Noninvasive Ventilation on Mortality in Hospitalized Patients with Obesity Hypoventilation Syndrome: An Individual Patient Data Meta-Analysis.

Babak Mokhlesi, Juan Fernando Masa, Majid Afshar, Virginia Almadana Pacheco, David J Berlowitz, Jean-Christian Borel, Stephan Budweiser, Andres Carrillo, Olalla Castro-Añón, Miquel Ferrer, Frédéric Gagnadoux, Rafael Golpe, Nicholas Hart, Mark E Howard, Patrick B Murphy, Andreas Palm, Luis A Perez de Llano, Amanda J Piper, Jean Louis Pépin, Pascaline Priou, Jesús F Sánchez-Gómez, Israa Soghier, Maximiliano Tamae Kakazu, Kevin C Wilson,

RATIONALE:Hospitalized patients with acute-on-chronic hypercapnic respiratory failure due to obesity hypoventilation syndrome (OHS) have increased short-term mortality. It is unknown whether prescribing empiric positive airway pressure (PAP) at the time of hospital discharge reduces mortality compared to waiting for an outpatient evaluation (i.e. outpatient sleep study and outpatient PAP titration). ... Read more >>

Ann Am Thorac Soc (Annals of the American Thoracic Society)
[2020, :]

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Sodium glucose cotransporter2 inhibitor-possible treatment for patients with diabetes, pulmonary disease and CO2 retention.

Shay Brikman, Guy Dori,

Chronic pulmonary diseases such as chronic obstructive pulmonary disease, obstructive sleep apnea and obesity hypoventilation syndrome are common conditions which share decreased pulmonary ventilation and CO2 retention. CO2 is an end-product of metabolism of all body cells. When CO2 accumulates, it is recommended to consider measures to reduce its endogenous ... Read more >>

Med. Hypotheses (Medical hypotheses)
[2020, 139:109631]

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Subjective sleep quality in adult patients affected by Duchenne muscular dystrophy. Beyond nocturnal hypoventilation.

Grazia Crescimanno, Francesca Greco, Alessia Abbate, Maria Canino, Manuela Bertini, Oreste Marrone,

OBJECTIVE:In stable neuromuscular patients under long-term non-invasive ventilation (NIV), subjective sleep quality may be predicted by chronic hypoventilation, as assessed by base excess (BE), and %N3 sleep stage duration. In this study, we explored how other variables, closely associated with self-reported health complaints, contributed to subjective sleep quality in adult ... Read more >>

Sleep Med. (Sleep medicine)
[2020, 69:168-171]

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Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome.

Shivanthan Shanthikumar, Ajay Kevat, Rachel Stapleton, Sebastian Lunke, Zornitza Stark, Moya Vandeleur,

Pediatr. Pulmonol. (Pediatric pulmonology)
[2020, 55(4):855-857]

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Correction to: Life-threatening cardiac arrhythmias in congenital central hypoventilation syndrome.

Eric Laifman, Thomas G Keens, Yaniv Bar-Cohen, Iris A Perez,

The publisher regrets that in the original published version of this article, one of the author's name was incorrectly presented as "Yaniv Bar Cohen". The correct presentation should have been "Yaniv Bar-Cohen" and is now presented correctly in this article. ... Read more >>

Eur. J. Pediatr. (European journal of pediatrics)
[2020, :]

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Congenital Central Hypoventilation Syndrome Presenting with Seizures.

Abdulaziz Binmanee, Abdulrahman Alfadhel, Naif Alzamil, Sara ALBanyan, Mishal Alammar,

Congenital central hypoventilation syndrome (CCHS) is a critical and rare autosomal dominant disorder that was first described by Robert Mellins in 1970. CCHS is defined to be an autonomic nervous system (ANS) dysfunction that usually presents in the neonatal period with hypoventilation and dysregulated autonomic homeostasis on a multi-system level. ... Read more >>

Cureus (Cureus)
[2020, 12(1):e6680]

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Weight Loss Interventions as Treatment of Obesity Hypoventilation Syndrome: A Systematic Review.

Maximiliano Tamae Kakazu, Israa Soghier, Majid Afshar, Jan L Brozek, Kevin C Wilson, Juan Fernando Masa, Babak Mokhlesi,

RATIONALE:Obesity Hypoventilation Syndrome (OHS) is an undesirable consequence of obesity. Weight loss is an important component of management based upon clinical rationale, but the evidence supporting weight loss has not been summarized and the optimal approach has not been determined. OBJECTIVE:This systematic review informed an international, multi-disciplinary panel of experts ... Read more >>

Ann Am Thorac Soc (Annals of the American Thoracic Society)
[2020, :]

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Early NIV is associated with accelerated lung function decline in Duchenne muscular dystrophy treated with glucocorticosteroids.

Megan E Angliss, Kiara D Sclip, Leanne Gauld,

BACKGROUND:Use of non-invasive ventilation (NIV) in adolescents with Duchenne muscular dystrophy (DMD) has increased with concomitant extended survival. AIM:To describe lung function (LF) changes with NIV in adolescents with DMD and to assess differences between Steroid Users and Steroid Naïve subjects. METHOD:A retrospective cohort of adolescents with DMD initiating NIV ... Read more >>

BMJ Open Respir Res (BMJ open respiratory research)
[2020, 7(1):]

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Life-threatening cardiac arrhythmias in congenital central hypoventilation syndrome.

Eric Laifman, Thomas G Keens, Yaniv Bar-Cohen, Iris A Perez,

Congenital central hypoventilation syndrome (CCHS) patients are at risk for life-threatening cardiac arrhythmias, and presentation is dependent on their PHOX2B gene mutation. We describe the presentation of life-threatening arrhythmias in our cohort of CCHS patients. We reviewed the records of 72 CCHS patients seen at CHLA from 2004 to 2018. ... Read more >>

Eur. J. Pediatr. (European journal of pediatrics)
[2020, :]

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Positional impairment of gas exchange during diaphragm pacing alleviated by increasing amplitude settings in congenital central hypoventilation syndrome.

Aditya Chada, Roberta M Leu, Iris A Perez, Charles R Esther, Ajay S Kasi,

None:Diaphragm pacing (DP) by phrenic nerve stimulation is a modality of chronic ventilatory support in individuals with congenital central hypoventilation syndrome (CCHS). We report a 9-year-old girl with CCHS who uses DP without tracheostomy during sleep. Her parents report hypoxemia and hypercapnia related to positional changes of the body during ... Read more >>

J Clin Sleep Med (Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine)
[2020, 16(3):459-462]

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Respiratory Involvement in Patients with Neuromuscular Diseases: A Narrative Review.

Athanasios Voulgaris, Maria Antoniadou, Michalis Agrafiotis, Paschalis Steiropoulos,

Respiratory muscle weakness is a major cause of morbidity and mortality in patients with neuromuscular diseases (NMDs). Respiratory involvement in NMDs can manifest broadly, ranging from milder insufficiency that may affect only sleep initially to severe insufficiency that can be life threatening. Patients with neuromuscular diseases exhibit very often sleep-disordered ... Read more >>

Pulm Med (Pulmonary medicine)
[2019, 2019:2734054]

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Obesity-Hypoventilation Syndrome: Baseline Hemodynamic Status and Impact of non-Invasive Ventilation.

Ramón Fernández Álvarez, José Belda Ramirez, Gemma Rubinos Cuadrado, Herminia Buchelli Ramirez, David Fole Vazquez, Marta Iscar Urrutia, Francisco Rodriguez Jerez, Maria Jose Vazquez Lopez, Pere Casan Clara,

INTRODUCTION:Obesity-hypoventilation syndrome (OHS) is a risk factor for heart failure (HF). Some studies associate the use of non-invasive ventilation (NIV) with changes in hemodynamic parameters. Our objective was to describe the hemodynamic status of a group of patients with OHS and to study the effect of NIV. PATIENTS AND METHODS:Patients ... Read more >>

Arch. Bronconeumol. (Archivos de bronconeumologia)
[2019, :]

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Chronic Obstructive Pulmonary Disease and Breathing during Sleep. A Strain in the Neck.

Jeremy E Orr, Robert L Owens,

Am. J. Respir. Crit. Care Med. (American journal of respiratory and critical care medicine)
[2020, 201(4):395-396]

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Ondine's curse: the origin of the myth.

Eduardo Orrego-González, Germán José Medina-Rincón, Sofía Martínez-Gil, Juan Sebastián Botero-Meneses,

OBJECTIVE:Central alveolar hypoventilation syndrome has been known for decades as Ondine's curse. METHOD:It was named as such after a German myth. RESULTS:Although most of the stories resemble one another, word of mouth has led to misinterpretation of this tale among the medical community. CONCLUSION:The present paper reviews the original narrative, ... Read more >>

Arq Neuropsiquiatr (Arquivos de neuro-psiquiatria)
[2020, :]

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