2,722 results match your criteria Hypoventilation Syndromes


Dyspnoea and restrictive lung disease due to mediastinal and pleural lipomatosis in morbid obesity.

Respirol Case Rep 2019 Jul 9;7(5):e00421. Epub 2019 Apr 9.

Department of Respiratory Medicine Waikato Hospital Hamilton New Zealand.

Dyspnoea in obese patients can be multifactorial and complex. Mediastinal and pleural lipomatosis can be associated with obesity and is usually considered asymptomatic and benign. We report an obese 39-year-old man who presented with progressive dyspnoea, where in addition to obstructive sleep apnoea and obesity hypoventilation syndrome, was found to have massive mediastinal and pleural lipomatosis causing restrictive lung disease. Read More

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http://dx.doi.org/10.1002/rcr2.421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454808PMC

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.

Ital J Pediatr 2019 Apr 18;45(1):49. Epub 2019 Apr 18.

Respiratory Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy.

Background: Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation increasing during sleep and affected patients are unable to perceive and respond to hypercarbia with increased ventilation and arousal during sleep. PHOX2B gene mutations are considered as responsible for CCHS. Most of patients with CCHS are heterozygous for polyalanine expansion mutations (PARMs) in exon 3, but 10% of patients with classic CCHS are heterozygous for non-polyalanine expansion mutations (NPARMs) of the PHOX2B gene. Read More

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http://dx.doi.org/10.1186/s13052-019-0636-8DOI Listing
April 2019
2 Reads

Molecular insights into the role of the polyalanine region in mediating PHOX2B aggregation.

FEBS J 2019 Apr 7. Epub 2019 Apr 7.

Institute of Biostructure and Bioimaging, CNR, Napoli, Italy.

About 90% of congenital central hypoventilation syndrome (CCHS) patients show polyalanine triplet expansions in the coding region of transcription factor PHOX2B, which renders this protein an intriguing target to understand the insurgence of this syndrome and for the design of a novel therapeutical approach. Consistently with the role of PHOX2B as a transcriptional regulator, it is reasonable that a general transcriptional dysregulation caused by the polyalanine expansion might represent an important mechanism underlying CCHS pathogenesis. Therefore, this study focused on the biochemical characterization of different PHOX2B variants, such as a variant containing the correct C-terminal (20 alanines) stretch, one of the most frequent polyalanine expansions (+7 alanines), and a variant lacking the complete alanine stretch (0 alanines). Read More

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http://dx.doi.org/10.1111/febs.14841DOI Listing
April 2019
2 Reads

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).

Genet Med 2019 Apr 3. Epub 2019 Apr 3.

PEDEGO Research Unit and Medical Research Centre Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland.

Purpose: A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic variants: transketolase (TKT), transmembrane prolyl 4-hydroxylase (P4HTM), and ubiquitin specific peptidase 4 (USP4). However, the causative gene remained elusive. Read More

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http://www.nature.com/articles/s41436-019-0503-4
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http://dx.doi.org/10.1038/s41436-019-0503-4DOI Listing
April 2019
2 Reads

Long-term clinical effectiveness of continuous positive airway pressure therapy versus non-invasive ventilation therapy in patients with obesity hypoventilation syndrome: a multicentre, open-label, randomised controlled trial.

Lancet 2019 Mar 29. Epub 2019 Mar 29.

Respiratory Department, San Pedro de Alcántara Hospital, Cáceres, Spain; CIBER de enfermedades respiratorias (CIBERES), Madrid, Spain; Instituto Universitario de Investigación Biosanitaria de Extremadura (INUBE), Cáceres, Spain.

Background: Obesity hypoventilation syndrome is commonly treated with continuous positive airway pressure or non-invasive ventilation during sleep. Non-invasive ventilation is more complex and costly than continuous positive airway pressure but might be advantageous because it provides ventilatory support. To date there have been no long-term trials comparing these treatment modalities. Read More

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http://dx.doi.org/10.1016/S0140-6736(18)32978-7DOI Listing
March 2019
3 Reads

Obesity hypoventilation syndrome: is less really more?

Lancet 2019 Mar 29. Epub 2019 Mar 29.

Lane-Fox Respiratory Service, Guy's and St Thomas' NHS Trust, St Thomas' Hospital, London SE1 7EH, UK; Respiratory Failure Service, Department of Respiratory and Sleep Medicine, Royal Prince Alfred Hospital, Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/S0140-6736(19)30248-XDOI Listing
March 2019
2 Reads

Outcome of Frail Do-Not-Intubate Subjects With End-Stage Chronic Respiratory Failure and Their Opinion of Noninvasive Ventilation to Reverse Hypercapnic Coma.

Respir Care 2019 Mar 19. Epub 2019 Mar 19.

Department of Respiratory and Critical Care Medicine, Schaffner Hospital, Lens, France.

Background: The use of noninvasive ventilation (NIV) in the emergency setting to reverse hypercapnic coma in frail patients with end-stage chronic respiratory failure and do-not-intubate orders remains a questionable issue given the poor outcome of this vulnerable population. We aimed to answer this issue by assessing not only subjects' outcome with NIV but also subjects' point of view regarding NIV for this indication.

Methods: A prospective observational case-control study was conducted in 3 French tertiary care hospitals during a 2-y period. Read More

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http://dx.doi.org/10.4187/respcare.06346DOI Listing
March 2019
2 Reads

Control of the cardiovascular and respiratory systems during sleep.

Auton Neurosci 2019 May 30;218:54-63. Epub 2019 Jan 30.

Department of Neurology, Mayo Clinic, Rochester, MN, United States of America. Electronic address:

Sleep and arousal from sleep are associated with profound changes in cardiovascular and respiratory functions. Fluctuations of arterial blood pressure (ABP), heart rate (HR), and respiration occur both during non-rapid eye movement (NREM) and REM sleep and during transitions between sleep and behavioral arousal. These changes reflect complex, state-dependent interactions among several neuronal groups in the hypothalamus and brainstem. Read More

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http://dx.doi.org/10.1016/j.autneu.2019.01.007DOI Listing
May 2019
2 Reads

Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep.

Auton Neurosci 2019 May 15;218:10-15. Epub 2019 Feb 15.

Department of Neurology, Dysautonomia Center, New York University School of Medicine, New York, NY, United States of America. Electronic address:

Familial dysautonomia (Riley-Day syndrome, hereditary sensory and autonomic neuropathy type III) is a rare autosomal recessive disease characterized by impaired development of primary sensory and autonomic neurons resulting in a severe neurological phenotype, which includes arterial baroreflex and chemoreflex failure with high frequency of sleep-disordered breathing and sudden death during sleep. Although a rare disease, familial dysautonomia represents a unique template to study the interactions between sleep-disordered breathing and abnormal chemo- and baroreflex function. In patients with familial dysautonomia, ventilatory responses to hypercapnia are reduced, and to hypoxia are almost absent. Read More

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http://dx.doi.org/10.1016/j.autneu.2019.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428199PMC
May 2019
2 Reads

Obesity in the critically ill: a narrative review.

Intensive Care Med 2019 Mar 19. Epub 2019 Mar 19.

Anesthesia and Critical Care Department (DAR-B), Saint Eloi, University of Montpellier, Research Unit: PhyMedExp, INSERM U-1046, CNRS, 34295, Montpellier Cedex 5, France.

The World Health Organization defines overweight and obesity as the condition where excess or abnormal fat accumulation increases risks to health. The prevalence of obesity is increasing worldwide and is around 20% in ICU patients. Adipose tissue is highly metabolically active, and especially visceral adipose tissue has a deleterious adipocyte secretory profile resulting in insulin resistance and a chronic low-grade inflammatory and procoagulant state. Read More

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http://link.springer.com/10.1007/s00134-019-05594-1
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http://dx.doi.org/10.1007/s00134-019-05594-1DOI Listing
March 2019
18 Reads

Concerns regarding the use of continuous positive airway pressure to treat stable patients with obesity hypoventilation syndrome.

Sleep Med 2019 Feb 10. Epub 2019 Feb 10.

Sleep Disorders Center, Pulmonary Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1016/j.sleep.2019.01.038DOI Listing
February 2019
4 Reads

Congenital central hypoventilation syndrome and Hirschsprung disease: A retrospective review of the French National Registry Center on 33 cases.

J Pediatr Surg 2019 Mar 1. Epub 2019 Mar 1.

Department of General Pediatric Surgery, Robert Debre Children University Hospital, APHP, Paris, France; UMR1149 Inserm, Paris Diderot University, Paris, France. Electronic address:

Aim Of The Study: Congenital Central Hypoventilation Syndrome (CCHS) is a rare affection associated to Hirschsprung disease (HD) in 20% of the cases. Using the French CCHS registry, we described the population of patients suffering from both CCHS and HD reporting the outcome on these patients.

Methods: Medical records were reviewed. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.02.014DOI Listing
March 2019
1 Read

Review of paraneoplastic syndromes in children.

Pediatr Radiol 2019 Apr 16;49(4):534-550. Epub 2019 Mar 16.

Department of Radiology, Boston Children's Hospital, 300 Longwood Ave., Boston, MA, 02215, USA.

Paraneoplastic syndromes are defined as clinical syndromes that are not related to direct tumor invasion or compression but are secondary to tumor secretion of functional peptides/hormones or related to immune cross-reactivity with normal host tissue. Paraneoplastic syndromes have a wide range of presentations and can present before the primary malignancy or tumor recurrence is diagnosed. They can mimic non-neoplastic processes, making detection, diagnosis and treatment difficult. Read More

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http://dx.doi.org/10.1007/s00247-019-04371-yDOI Listing
April 2019
5 Reads

Obesity hypoventilation syndrome.

Eur Respir Rev 2019 Mar 14;28(151). Epub 2019 Mar 14.

CIBER de enfermedades respiratorias (CIBERES), Madrid, Spain.

Obesity hypoventilation syndrome (OHS) is defined as a combination of obesity (body mass index ≥30 kg·m), daytime hypercapnia (arterial carbon dioxide tension ≥45 mmHg) and sleep disordered breathing, after ruling out other disorders that may cause alveolar hypoventilation. OHS prevalence has been estimated to be ∼0.4% of the adult population. Read More

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http://err.ersjournals.com/lookup/doi/10.1183/16000617.0097-
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http://dx.doi.org/10.1183/16000617.0097-2018DOI Listing
March 2019
6 Reads

A Novel c.676_677insG Mutation in Congenital Central Hypoventilation Syndrome.

J Clin Sleep Med 2019 Mar 15;15(3):509-513. Epub 2019 Mar 15.

United Diagnostic and Research Center for Clinical Genetics, School of Public Health of Xiamen University and Xiamen Maternal and Child Health Hospital, Xiamen, China.

Abstract: () is considered to be the causative gene of congenital central hypoventilation syndrome (CCHS), a dominant genetic disorder that results in abnormal central respiratory control with resulting hypoventilation during sleep. In this study, we report a novel c.676_677insG (p. Read More

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http://dx.doi.org/10.5664/jcsm.7688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411177PMC
March 2019
6 Reads

Clinical features of children with Haddad syndrome: A single-center experience.

J Pediatr Surg 2019 Feb 23. Epub 2019 Feb 23.

Department of Pediatric Surgery, Seoul National University College of Medicine, Seoul, Republic of Korea.

Background/purpose: Haddad syndrome (HS) is a very rare disease considered a form of neurocristopathy. It is characterized by a combination of congenital central hypoventilation syndrome (CCHS) and Hirschsprung's disease (HD). We report the clinical features and disease progression of HS to provide better care for HS patients by achieving an earlier diagnosis and optimal treatment. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.01.066DOI Listing
February 2019
2 Reads

Novel PHOX2B mutations in congenital central hypoventilation syndrome.

Pediatr Int 2019 Feb 20. Epub 2019 Feb 20.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata City, Japan.

Background: Congenital central hypoventilation syndrome (CCHS) is caused by mutation of paird-like homeobox 2B (PHOX2B). Approximately 90% of patients were found to carry polyalanine repeat expansion mutation (PARM), and the remaining 10% had non-PARM (NPARM). In PARM, the length of the polyalanine expansion correlates with clinical disease severity. Read More

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http://dx.doi.org/10.1111/ped.13812DOI Listing
February 2019
2 Reads

Non-Obstructive Middle Lobe Syndrome: An Unusual Cause of Recurrent Pneumonia in an Elderly Woman.

Eur J Case Rep Intern Med 2018 31;5(1):000737. Epub 2018 Jan 31.

Serviço de Medicina Interna B, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

An 84-year-old woman had five episodes of pneumonia in 4 months. Despite extensive comorbidities and advanced age, her health status was good and the recurrence seemed unjustified. Exhaustive background investigation revealed 14 episodes of right-sided pneumonias during the 3 previous years and an inconclusive investigation with CT of the thorax and bronchofibroscopy, despite some fibrotic and atelectasic alterations in the right middle lobe. Read More

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http://dx.doi.org/10.12890/2017_000737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346942PMC
January 2018
1 Read

Causes of secondary hypertension from a single center in Northern Greece; a retrospective clinical study.

Folia Med Cracov 2018 ;58(4):35-45

Department of Internal Medicine, General Hospital of Veria, Veria, Greece.

Hypertension constitutes one of the most common diseases leading patients to the Outpatient Departments. Idiopathic hypertension is the prevailing type, but on the other hand, the possible presence of clinical entities responsible for the development of secondary hypertension should never be underestimated. We retrospectively studied 447 subjects aged between 20 and 84 years old and diagnosed with hypertension, who were thoroughly evaluated for secondary hypertension. Read More

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January 2018
2 Reads

Sleep Complaints, Sleep and Breathing Disorders in Myotonic Dystrophy Type 2.

Curr Neurol Neurosci Rep 2019 Feb 9;19(2). Epub 2019 Feb 9.

Department of Clinical Medicine and Surgery, Section of Respiratory Diseases, University of Naples Federico II, Naples, Italy.

Purpose Of Review: To update the current knowledge concerning sleep complaints and breathing disorders in myotonic dystrophy type 2 (DM2) and to better understand if sleep and breathing symptoms may add a further clinical definition of DM2.

Recent Findings: Although DM2 has been poorly evaluated, the most relevant sleep disorders are sleep-disordered breathing (SDB) (37.5-66. Read More

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http://link.springer.com/10.1007/s11910-019-0924-0
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http://dx.doi.org/10.1007/s11910-019-0924-0DOI Listing
February 2019
3 Reads

Obesity hypoventilation syndrome: a current review.

J Bras Pneumol 2018 Nov-Dec;44(6):510-518

. Laboratório do Sono, Disciplina de Pneumologia, Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo (SP) Brasil.

Obesity hypoventilation syndrome (OHS) is defined as the presence of obesity (body mass index ≥ 30 kg/m²) and daytime arterial hypercapnia (PaCO2 ≥ 45 mmHg) in the absence of other causes of hypoventilation. OHS is often overlooked and confused with other conditions associated with hypoventilation, particularly COPD. The recognition of OHS is important because of its high prevalence and the fact that, if left untreated, it is associated with high morbidity and mortality. Read More

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http://dx.doi.org/10.1590/S1806-37562017000000332DOI Listing
March 2019
5 Reads

Comorbidities associated with obstructive sleep apnea: a retrospective Egyptian study on 244 patients.

Sleep Breath 2019 Jan 26. Epub 2019 Jan 26.

Department of Chest Diseases, Faculty of Medicine, University of Alexandria, 26 Mostafa kamel officer buildings, Alexandria, Egypt.

Purpose: The aim of the present study was to assess prevalence of associated comorbidities in a group of patients diagnosed with obstructive sleep apnea syndrome (OSAS).

Methods: This retrospective study enrolled 244 consecutive patients diagnosed by polysomnogram with OSAS between October 2010 and January 2015 after being referred to our Sleep-Related Breathing Disorders Unit, Chest Diseases Department, in the Alexandria Main University Hospital.

Results: Of 244 patients, 47% were men, mean age was 56. Read More

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http://dx.doi.org/10.1007/s11325-019-01783-wDOI Listing
January 2019
3 Reads

Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.

Am J Med Genet A 2019 Mar 23;179(3):503-506. Epub 2019 Jan 23.

Division of Pediatric Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, Illinois.

Congenital Central Hypoventilation Syndrome (CCHS) is a rare disease characterized by autonomic nervous system dysregulation. Central hypoventilation is the most prominent and clinically important presentation. CCHS is caused by mutations in paired-like homeobox 2b (PHOX2B) and is inherited in an autosomal dominant pattern. Read More

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http://dx.doi.org/10.1002/ajmg.a.61047DOI Listing
March 2019
7 Reads

Caloric intake and the fat-to-carbohydrate ratio in hypercapnic acute respiratory failure: Post-hoc analysis of the PermiT trial.

Clin Nutr ESPEN 2019 Feb 13;29:175-182. Epub 2018 Nov 13.

Intensive Care Department, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, King Abdulaziz Medical City, Riyadh, Saudi Arabia. Electronic address:

Background: The effect of moderate caloric enteral intake in critically ill patients with hypercapnic acute respiratory failure (HCARF) is unclear. We studied the impact of permissive underfeeding (PUF) compared with standard feeding (SF) on various HCARF outcomes.

Materials And Methods: The PermiT trial randomized 894 patients to either PUF (40-60% caloric requirement) or SF (70-100% requirement) with similar protein intake and found no difference in mortality, mechanical ventilation (MV) duration and ventilator-free days. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S24054577183055
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http://dx.doi.org/10.1016/j.clnesp.2018.10.012DOI Listing
February 2019
12 Reads

Transient Acquired Hypoventilation Syndrome Secondary to Uncal Herniation Is Successfully Treated with Bilevel Noninvasive Positive Pressure Ventilation.

Case Rep Crit Care 2018 17;2018:7013916. Epub 2018 Dec 17.

Penn Medicine Princeton Health, Plainsboro, NJ, USA.

Background: To describe an unusual presentation of acquired hypoventilation syndrome treated successfully with noninvasive positive pressure ventilation.

Case Presentation: We report a case report of a 48-year-old male who presented to the emergency room for recurrent syncope. He was found to have a ventricular colloid cyst causing uncal herniation. Read More

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http://dx.doi.org/10.1155/2018/7013916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311816PMC
December 2018
3 Reads

Obesity cardiomyopathy: the role of obstructive sleep apnea and obesity hypoventilation syndrome.

Ir J Med Sci 2019 Jan 15. Epub 2019 Jan 15.

Respiratory Division, University Hospital Limerick, Limerick, Ireland.

The negative long-term health consequences of obesity are well known to both the medical profession and general public. Despite this, the number of obese and overweight individuals worldwide continues to steadily rise. Although obesity has long been associated with an increased risk for cardiovascular disease and mortality, the classification of a cardiomyopathy of obesity is a more recent development. Read More

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http://link.springer.com/10.1007/s11845-018-01959-5
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http://dx.doi.org/10.1007/s11845-018-01959-5DOI Listing
January 2019
21 Reads

Non-invasive ventilation in acute respiratory failure of patients with obesity hypoventilation syndrome.

Minerva Med 2018 Dec;109(6 Suppl 1):1-5

Unit of Respiratory Diseases and Allergies, Department of Internal Medicine (DiMI), San Martino University Hospital, Genoa, Italy.

Introduction: Non-invasive ventilation (NIV) has been used successfully for the management of acute respiratory failure (ARF) more often in the last two decades compared to prior decades. There are particular groups of patients that are more likely to benefit from NIV. One of these groups is patients with obesity hypoventilation syndrome (OHS). Read More

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http://dx.doi.org/10.23736/S0026-4806.18.05921-9DOI Listing
December 2018
2 Reads

Dead space ventilation promotes alveolar hypocapnia reducing surfactant secretion by altering mitochondrial function.

Thorax 2019 Mar 12;74(3):219-228. Epub 2019 Jan 12.

Department of Anesthesiology, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

Background: In acute respiratory distress syndrome (ARDS), pulmonary perfusion failure increases physiologic dead space ventilation (V/V), leading to a decline of the alveolar CO concentration [CO]. Although it has been shown that alveolar hypocapnia contributes to formation of atelectasis and surfactant depletion, a typical complication in ARDS, the underlying mechanism has not been elucidated so far.

Methods: In isolated perfused rat lungs, cytosolic or mitochondrial Ca concentrations ([Ca] or [Ca], respectively) of alveolar epithelial cells (AECs), surfactant secretion and the projected area of alveoli were quantified by real-time fluorescence or bright-field imaging (n=3-7 per group). Read More

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http://dx.doi.org/10.1136/thoraxjnl-2018-211864DOI Listing
March 2019
5 Reads

Health-related quality of life as predictor for mortality in patients treated with long-term mechanical ventilation.

BMC Pulm Med 2019 Jan 11;19(1):13. Epub 2019 Jan 11.

Department of Global Public Health and Primary Care, University in Bergen, Kalfarveien 31, 5018, Bergen, Norway.

Background: The Severe Respiratory Insufficiency (SRI) questionnaire is a specific measure of health-related quality of life (HRQoL) in patients treated with long-term mechanical ventilation (LTMV). The aim of the present study was to examine whether SRI sum scores and related subscales are associated with mortality in LTMV patients.

Methods: The study included 112 LTMV patients (non-invasive and invasive) from the Norwegian LTMV registry in Western Norway from 2008 with follow-up in August 2014. Read More

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https://bmcpulmmed.biomedcentral.com/articles/10.1186/s12890
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http://dx.doi.org/10.1186/s12890-018-0768-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330471PMC
January 2019
14 Reads

Vertical sleeve gastrectomy improves ventilatory drive through a leptin-dependent mechanism.

JCI Insight 2019 Jan 10;4(1). Epub 2019 Jan 10.

Department of Surgery, University of Michigan, Ann Arbor, Michigan, USA.

Obesity hypoventilation syndrome (OHS) is a serious disorder characterized by daytime hypercapnia, disordered breathing, and a reduction in chemosensitivity. Vertical sleeve gastrectomy (VSG), a bariatric surgical procedure resulting in weight loss and weight-independent improvements in glucose metabolism, has been observed to substantially improve sleep-disordered breathing. However, it is unclear if the ventilatory effects of VSG are secondary to weight loss or the marked change in metabolic physiology. Read More

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http://dx.doi.org/10.1172/jci.insight.124469DOI Listing
January 2019
4 Reads

Activation of Phox2b-Expressing Neurons in the Nucleus Tractus Solitarii Drives Breathing in Mice.

J Neurosci 2019 Apr 9;39(15):2837-2846. Epub 2019 Jan 9.

Department of Physiology, Hebei Medical University, Shijiazhuang, Hebei, 050017, China,

The nucleus tractus solitarii (NTS) is implicated in the control of breathing, but the neuronal phenotype and circuit mechanism involved in such a physiological function remain incompletely understood. This study focused on the respiratory role of paired-like homeobox 2b gene (Phox2b)-expressing NTS neurons and sought to determine whether selective stimulation of this set of neurons activates breathing in male mice. A Cre-dependent vector encoding a Gq-coupled human M3 muscarinic receptor (hM3Dq) was microinjected into the NTS of Phox2b-Cre transgenic mice. Read More

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http://dx.doi.org/10.1523/JNEUROSCI.2048-18.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462453PMC
April 2019
5 Reads
6.344 Impact Factor

Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review.

Biomed Res Int 2018 21;2018:1250721. Epub 2018 Nov 21.

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Republic of Korea.

Background And Aim: ROHHADNET (rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, neuroendocrine tumor) syndrome is a rare disease with grave outcome. Although early recognition is essential, prompt diagnosis may be challenging due to its extreme rarity. This study aimed to systematically review its clinical manifestation and to identify genetic causes. Read More

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https://www.hindawi.com/journals/bmri/2018/1250721/
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http://dx.doi.org/10.1155/2018/1250721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280256PMC
April 2019
8 Reads

Volume-targeted pressure support and automatic EPAP for chronic hypoventilation syndromes: An advance in-home ventilation or just more noise?

Authors:
Nigel McArdle

Respirology 2018 Dec 21. Epub 2018 Dec 21.

Department of Pulmonary Physiology and Sleep Medicine, Western Australian Sleep Disorders Research Institute, Sir Charles Gairdner Hospital, Perth, WA, Australia.

Early in the history of non-invasive ventilation (NIV) for disorders of hypoventilation, treatment was provided by volume-limited (VL) devices. Currently, NIV is commonly provided by pressure-limited (PL) devices because of greater portability, lower cost and studies showing increased patient comfort. There are now volume-targeted (VT) devices, which aim to combine the advantages of more stable ventilation associated with VL and greater comfort of PL mode. Read More

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http://doi.wiley.com/10.1111/resp.13458
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http://dx.doi.org/10.1111/resp.13458DOI Listing
December 2018
6 Reads

The genetics of congenital central hypoventilation syndrome: clinical implications.

Appl Clin Genet 2018 15;11:135-144. Epub 2018 Nov 15.

Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA,

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine's curse, is due to a mutation in the gene that affects the development of the neural crest cells. CCHS has an autosomal dominant pattern of inheritance. Read More

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http://dx.doi.org/10.2147/TACG.S140629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241683PMC
November 2018
5 Reads

Efficacy of bilevel ventilatory support in the treatment of stable patients with obesity hypoventilation syndrome: systematic review and meta-analysis.

Sleep Med 2019 Jan 10;53:153-164. Epub 2018 Oct 10.

Postgraduate Program in Pneumological Sciences, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2400/2 Andar, Porto Alegre, RS, CEP 90035-003, Brazil; Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS, CEP 90035-903, Brazil. Electronic address:

Objective: To systematically review the effects of bilevel ventilatory support (BVS) in patients with Obesity Hypoventilation Syndrome (OHS).

Methods: A search of databases (MEDLINE accessed by PubMed, Cochrane CENTRAL, EMBASE and LILACS) was conducted from inception to June 2018. Randomized trials comparing BVS to other therapeutic modalities such as lifestyle counseling, continuous positive airway pressure (PAP) or BVS with average volume assured pressure support for the treatment of patients with OHS were included. Read More

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http://dx.doi.org/10.1016/j.sleep.2018.09.016DOI Listing
January 2019
3 Reads

Adult With Mutation and Late-Onset Congenital Central Hypoventilation Syndrome.

J Clin Sleep Med 2018 Dec 15;14(12):2079-2081. Epub 2018 Dec 15.

Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, California.

Abstract: 20/27 polyalanine repeat mutation (PARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally associated with full-time ventilator dependence, Hirschsprung disease, and increased risk for cardiac asystole. We follow a 14-year-old boy with CCHS 20/27 PARM who is full-time ventilator dependent via tracheostomy and has Hirschsprung disease. His mother, age 52 years, has a history of prolonged recovery from anesthesia and an elevated serum bicarbonate level of 45 mEq/L discovered on routine blood chemistry. Read More

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http://dx.doi.org/10.5664/jcsm.7542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287728PMC
December 2018
10 Reads

Left ventricular diastolic dysfunction in patients with obesity hypoventilation syndrome.

J Thorac Dis 2018 Oct;10(10):5747-5754

University Sleep Disorders Centre, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Background: Obesity hypoventilation syndrome (OHS) can be complicated by several cardiovascular conditions. We assessed the prevalence and factors associated with left ventricular diastolic dysfunction (LVDD) in patients with OHS.

Methods: In this prospective observational study, all consecutive OHS patients referred to the sleep disorders clinic between January 2002 to December 2016 were included (n=113). Read More

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http://dx.doi.org/10.21037/jtd.2018.09.74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236195PMC
October 2018
2 Reads

Mutation in precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice.

Proc Natl Acad Sci U S A 2018 12 28;115(51):13021-13026. Epub 2018 Nov 28.

Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany;

The respiratory rhythm is generated by the preBötzinger complex in the medulla oblongata, and is modulated by neurons in the retrotrapezoid nucleus (RTN), which are essential for accelerating respiration in response to high CO Here we identify a frameshift ( ) mutation in patients with congenital central hypoventilation. The mutation alters the C-terminal but not the DNA-binding domain of Mice with the analogous mutation recapitulate the breathing deficits found in humans. Furthermore, the mutation only interferes with a small subset of Lbx1 functions, and in particular with development of RTN neurons that coexpress Lbx1 and Phox2b. Read More

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http://dx.doi.org/10.1073/pnas.1813520115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304989PMC
December 2018
27 Reads

Clinical approach to cardiac pauses in congenital central hypoventilation syndrome.

Pediatr Pulmonol 2019 Feb 20;54(2):E4-E6. Epub 2018 Nov 20.

Division and Chair of Cardiology, Spedali Civili Hospital, University of Brescia, Brescia, Italy.

Congenital central hypoventilation syndrome (CCHS) patients may have heart rhythm disorders related to autonomic nervous system dysfunction such as, sinus bradycardia and transient asystole with potentially dramatic syncopal events. The diagnosis of these cardiac alterations may be challenging with conventional periodical Holter monitoring. The case shows how continuous heart rhythm monitoring provided by the implantable cardiac monitor (ICM) may play a crucial role for their early diagnosis and the choice of the appropriate therapeutic intervention. Read More

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http://dx.doi.org/10.1002/ppul.24189DOI Listing
February 2019
29 Reads

Mecp2 Disruption in Rats Causes Reshaping in Firing Activity and Patterns of Brainstem Respiratory Neurons.

Neuroscience 2019 01 17;397:107-115. Epub 2018 Nov 17.

Department of Biology, Georgia State University, 50 Decatur Street, Atlanta, GA 30302, United States. Electronic address:

People with Rett Syndrome (RTT), a neurodevelopmental disorder caused by mutations in the MECP2 gene, have breathing abnormalities manifested as periodical hypoventilation with compensatory hyperventilation, which are attributable to a high incidence of sudden death. Similar breathing abnormalities have been found in animal models with Mecp2 disruptions. Although RTT-type hypoventilation is believed to be due to depressed central inspiratory activity, whether this is true remains unknown. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03064522183073
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http://dx.doi.org/10.1016/j.neuroscience.2018.11.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415544PMC
January 2019
7 Reads

A retrospective study on sleep-disordered breathing in Morquio-A syndrome.

Am J Med Genet A 2018 Dec 18;176(12):2595-2603. Epub 2018 Nov 18.

Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.

Respiratory problems are common in Morquio-A syndrome (MPS IVA) but objective data on sleep-disordered breathing are scarce. The aim of our study was to review polygraphic (PG) findings and the need for noninvasive continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in children with MPS IVA. A retrospective review of the clinical charts and PG of 16 consecutive children (7 boys, mean age 10. Read More

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http://doi.wiley.com/10.1002/ajmg.a.40642
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http://dx.doi.org/10.1002/ajmg.a.40642DOI Listing
December 2018
25 Reads

Dysregulated glucose homeostasis in congenital central hypoventilation syndrome.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1325-1333

Department of Endocrinology and Diabetes, Lady Cilento Children's Hospital, South Brisbane, Queensland, Australia.

Background Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic control. A hypoglycaemic seizure in a 4-year-old girl with CCHS led to a more detailed examination of glycaemic control in a cohort of children with CCHS. Methods We conducted an observational cohort study of glucose homeostasis in seven children (3 months to 12 years) with genetically confirmed CCHS using a combination of continuous glucose monitoring (CGM), fasting studies and oral glucose tolerance test (OGTT). Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0086DOI Listing
December 2018
13 Reads

Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome.

BMJ Case Rep 2018 Nov 14;2018. Epub 2018 Nov 14.

Johns Hopkins Hospital and Health System, Baltimore, Maryland, USA.

In this case report, we describe an adult male with congenital myasthenic syndrome due to mutations in muscle-specific receptor tyrosine kinase (, c.79+2 T>G; IVS1 +2 T>G, c.2368 G>A, Val790Met) presenting with sleep apnoea and hypercapnic respiratory failure. Read More

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http://dx.doi.org/10.1136/bcr-2018-226534DOI Listing
November 2018
11 Reads

Comparison between auto-trilevel and bilevel positive airway pressure ventilation for treatment of patients with concurrent obesity hypoventilation syndrome and obstructive sleep apnea syndrome.

Sleep Breath 2018 Nov 13. Epub 2018 Nov 13.

Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital with Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, China.

Purpose: Our study aims to compare the difference in clinical efficacy between auto-trilevel positive airway pressure (auto-trilevel PAP) ventilator and conventional fixed bilevel positive airway pressure (BiPAP) ventilator for obesity hypoventilation syndrome (OHS) patients with coexisting moderate or severe obstructive sleep apnea hypopnea syndrome (OSAHS).

Methods: Twenty-three OHS patients with moderate or severe OSAHS enrolled between January 2015 and September 2017 underwent ventilation by three different modes of positive airway pressure (PAP) for 8 h per night. A single variable mode was applied at the first night followed by two nights when no PAP therapy was carried out as a washout period between each mode. Read More

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http://link.springer.com/10.1007/s11325-018-1750-3
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http://dx.doi.org/10.1007/s11325-018-1750-3DOI Listing
November 2018
16 Reads

Spinal anesthesia and postoperative epidural analgesia in a patient with congenital central hypoventilation sydrome.

Korean J Anesthesiol 2018 Nov 14. Epub 2018 Nov 14.

Department of Anesthesiology and Pain Medicine, Korean Institute of Radiological & Medical Science, Seoul, KOREA.

Congenital central hypoventilation syndrome (CCHS), also known as Ondine's Curse, is a rare disorder characterized by alveolar hypoventilation and autonomic dysregulation. Patients with CCHS have adequate ventilation while awake but exhibit hypoventilation while asleep. More severely affected patients exhibit hypoventilation both when awake and when asleep. Read More

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http://dx.doi.org/10.4097/kja.d.18.00118DOI Listing
November 2018
1 Read

An unusual case of hypercapnic respiratory failure.

Respir Med Case Rep 2018 23;25:327-329. Epub 2018 Oct 23.

University of Florida College of Medicine, Pulmonary & Critical Care, USA.

Asphyxiating thoracic dystrophy (ATD also known as Jeune syndrome) is a very rare disorder with an incidence in the United States of 1 case per 100,000-130,000 live births. Chronic alveolar hypoventilation leading to concurrent hypoxia is the main cause of morbidity and mortality in these patients due to its complications. A 22-year-old male with past medical history of ATD and severe kyphoscoliosis presented with progressively worsening shortness of breath for several days. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22130071183020
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http://dx.doi.org/10.1016/j.rmcr.2018.10.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214860PMC
October 2018
20 Reads

Association Between 25-Hydroxyvitamin D and Bone Mineral Density in People With Obstructive Sleep Apnea Syndrome.

J Clin Densitom 2019 Jan - Mar;22(1):39-46. Epub 2018 Oct 6.

Gaziosmanpaşa University Faculty of Medicine, Department of Pulmonary Diseases, Tokat, Turkey.

The aim of this study was to evaluate the association between bone mineral density (BMD) and 25-hydroxyvitamin D [25(OH) D] levels in patients with obstructive sleep apnea syndrome (OSAS). This study was designed as a cross-sectional and observational study. Patients who underwent polysomnography evaluation were classified as normal, mild, moderate, severe, or position-dependent OSAS, and OSAS + obesity hypoventilation syndrome (OHS). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10946950183017
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http://dx.doi.org/10.1016/j.jocd.2018.10.001DOI Listing
October 2018
11 Reads

[A case of Creutzfeldt-Jakob disease with E200K mutation presenting with hearing loss and central hypoventilation].

Rinsho Shinkeigaku 2018 Nov 27;58(11):673-676. Epub 2018 Oct 27.

Department of Neurology, The Jikei University Kashiwa Hospital.

We report the case of a 43-year-old female patient who presented with symptoms of abnormal behavior, hearing loss, ataxic gait, central hyperventilation which had appeared over the course of one month. Brain MRI showed no abnormal findings in DWI and EEG did not indicate periodic synchronous discharge (PSD). Over the course of the same month, she also presented with central apnea that intermittently showed spontaneous improvement and reappearance. Read More

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http://dx.doi.org/10.5692/clinicalneurol.cn-001197DOI Listing
November 2018
2 Reads

Obstructive sleep apnea in patients surviving acute hypercapnic respiratory failure is best predicted by static hyperinflation.

PLoS One 2018 25;13(10):e0205669. Epub 2018 Oct 25.

Service de Pneumologie, Département des spécialités de médecine, Geneva University Hospitals, Geneva, Switzerland.

Rationale: Acute hypercapnic respiratory failure (AHRF) treated with non-invasive ventilation in the ICU is frequently caused by chronic obstructive pulmonary disease (COPD) exacerbations and obesity-hypoventilation syndrome, the latter being most often associated with obstructive sleep apnea. Overlap syndrome (a combination of COPD and obstructive sleep apnea) may represent a major burden in this population, and specific diagnostic pathways are needed to improve its detection early after ICU discharge.

Objectives: To evaluate whether pulmonary function tests can identify a high probability of obstructive sleep apnea in AHRF survivors and outperform common screening questionnaires to identify the disorder. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0205669PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201889PMC
April 2019
6 Reads