2,987 results match your criteria Hypoventilation Syndromes

Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.

J Clin Sleep Med 2021 May 13. Epub 2021 May 13.

Department of Pediatrics, Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, CA.

Study Objectives: Congenital central hypoventilation syndrome (CCHS) is a rare disorder affecting the autonomic nervous system that is caused by variants in the PHOX2B gene. About 10% of patients with CCHS have nonpolyalanine repeat mutations (NPARM) that are associated with severe phenotypes requiring continuous assisted ventilation, Hirschsprung's disease, and increased neural crest tumor risk. However, some patients with NPARMs have milder phenotypes. Read More

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Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).

Genet Med 2021 May 6. Epub 2021 May 6.

Department of Pediatrics, Division of Autonomic Medicine, Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, IL, USA.

Purpose: CCHS is an extremely rare congenital disorder requiring artificial ventilation as life support. Typically caused by heterozygous polyalanine repeat expansion mutations (PARMs) in the PHOX2B gene, identification of a relationship between PARM length and phenotype severity has enabled anticipatory management. However, for patients with non-PARMs in PHOX2B (NPARMs, ~10% of CCHS patients), a genotype-phenotype correlation has not been established. Read More

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Case Studies in Physiology: Untangling the cause of hypoxemia in an obese patient with acute leukemia.

J Appl Physiol (1985) 2021 May 6. Epub 2021 May 6.

Health and Human Physiology, University of Iowa, United Statesgrid.214572.7.

Diagnosing the cause of hypoxemia and dyspnea can be complicated in complex patients with multiple co-morbidities. This Case Study in Physiology describes an obese man admitted to the hospital for relapse of acute lymphoblastic leukemia, who experienced progressive hypoxemia, shortness of breath, and dyspnea on exertion during his hospitalization. After initial empirical treatment with diuresis and antibiotics failed to improve his symptoms, we applied a novel, recently described physiological method to estimate the arterial partial pressure of oxygen from the peripheral saturation measurement, and calculate the alveolar-arterial oxygen difference to discern the source of his hypoxemia and dyspnea. Read More

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Sleep Studies in Children.

Indian Pediatr 2021 May 3. Epub 2021 May 3.

Pediatric Pulmonology and Sleep Medicine, Great Ormond Street Hospital for Children, London.

Sleep-related breathing disorders (SRBD), also referred to as sleep-disordered breathing (SDB), are common sleep disorders in children. They can be broadly divided between central and obstructive sleep-disordered breathing with or without associated hypoventilation. In most cases, SRBD are associated with adenotonsillar hypertrophy (obstructive SDB) which are classified as simple. Read More

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Diagnostic approach to sleep disordered-breathing among patients with grade III obesity.

Sleep Med 2021 Mar 29;82:18-22. Epub 2021 Mar 29.

AP-HP, Groupe Hospitalier Universitaire APHP-Sorbonne Université, site Pitié-Salpêtrière, Service de Pathologies Du Sommeil (Département R3S), F-75013 Paris, France; Sorbonne Université, INSERM, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique, Paris, France.

Sleep apnea test (SAT) is a cost-effective approach to evaluate subjects without associated comorbidities suspected for obstructive sleep apnea (OSA), a disorder particularly common in obese subjects. The association of obesity with awake hypercapnia (carbon dioxide arterial pressure, PaCO ≥45 mmHg) defines the obesity-hypoventilation syndrome (OHS), which in turn results in increased morbidity and mortality compared to simple OSA. Isolated hypoventilation during sleep in obese patients (obesity-related sleep hypoventilation, ORSH) is now considered as an early stage of OHS. Read More

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N-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo.

Am J Physiol Gastrointest Liver Physiol 2021 Apr 21. Epub 2021 Apr 21.

Surgery, Children's Hospital of Los Angeles, United States.

Mutations in the paired-like homeobox 2b (PHOX2B) gene are associated with congenital central hypoventilation syndrome (CCHS), which is a rare condition in which both autonomic dysregulation with hypoventilation and an enteric neuropathy may occur. The majority of CCHS patients have a polyalanine repeat mutation (PARM) in PHOX2B, but a minority of patients have non-polyalanine repeat mutations (NPARM), some of which have been localized to exon 1. A PHOX2B-Y14X nonsense mutation previously generated in a human pluripotent stem cell (hPSC) line results in an N-terminus truncated product missing the first 17 or 20 amino acids, possibly due to translational reinitiation at an alternate ATG start site. Read More

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Ondine's curse: myth meets reality.

Sleep Med X 2020 Dec 13;2:100012. Epub 2020 Jul 13.

Complexo Hospital de Clinicas - Universidade Federal of Parana, Curitiba, PR, Brazil.

Ondine's curse is one of the most enchanting mythical tales in the field of Medicine. The nymph Ondine was an immortal water spirit who became human after falling in love for a man, marrying him, and having a baby. In one of the versions of the tale, when she caught her husband sleeping with another woman, she cursed him to remain awake in order to control his own breathing. Read More

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December 2020

Nasal versus oronasal masks for home non-invasive ventilation in patients with chronic hypercapnia: a systematic review and individual participant data meta-analysis.

Thorax 2021 Apr 15. Epub 2021 Apr 15.

HP2 Laboratory INSERM 1042, Grenoble Universites, Saint-Martin-d'Heres, France

Background: The optimal interface for the delivery of home non-invasive ventilation (NIV) to treat chronic respiratory failure has not yet been determined. The aim of this individual participant data (IPD) meta-analysis was to compare the effect of nasal and oronasal masks on treatment efficacy and adherence in patients with COPD and obesity hypoventilation syndrome (OHS).

Methods: We searched Medline and Cochrane Central Register of Controlled Trials for prospective randomised controlled trials (RCTs) of at least 1 month's duration, published between January 1994 and April 2019, that assessed NIV efficacy in patients with OHS and COPD. Read More

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Obesity and Obesity Hypoventilation, Sleep Hypoventilation, and Postoperative Respiratory Failure.

Anesth Analg 2021 05;132(5):1265-1273

Department of Medicine, University of Chicago, Chicago, Illinois.

Obesity hypoventilation syndrome (OHS) is considered as a diagnosis in obese patients (body mass index [BMI] ≥30 kg/m2) who also have sleep-disordered breathing and awake diurnal hypercapnia in the absence of other causes of hypoventilation. Patients with OHS have a higher burden of medical comorbidities as compared to those with obstructive sleep apnea (OSA). This places patients with OHS at higher risk for adverse postoperative events. Read More

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How the Management of Children With Congenital Central Hypoventilation Syndrome Has Changed Over Time: Two Decades of Experience From an Italian Center.

Front Pediatr 2021 29;9:648927. Epub 2021 Mar 29.

Pediatric Pulmonology & Respiratory Intermediate Care Unit, Sleep, and Long-Term Ventilation Unit, Academic Department of Pediatrics and Genetic Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Congenital central hypoventilation syndrome (CCHS) is a rare disorder whose clinical phenotype is closely related to genotype. A retrospective analysis has been conducted on 22 patients with CCHS, who were referred to the Pediatric Pulmonology and Respiratory Intermediate Care Unit of Bambino Gesù Children's Hospital (Italy) for a multidisciplinary follow-up program between 2000 and 2020. Apnea and cyanosis were the most frequent symptoms at onset (91%). Read More

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Tracheostomy decannulation to noninvasive positive pressure ventilation in congenital central hypoventilation syndrome.

Sleep Breath 2021 Apr 14. Epub 2021 Apr 14.

Division of Pediatric Pulmonology and Sleep Medicine, Emory University School of Medicine, Children's Healthcare of Atlanta, 1400 Tullie Road NE, Atlanta, GA, 30329, USA.

Purpose: Noninvasive positive pressure ventilation (NPPV) may permit tracheostomy decannulation (TD) in patients with congenital central hypoventilation syndrome (CCHS) requiring nocturnal positive pressure ventilation via tracheostomy (PPV-T). There is limited evidence on optimal strategies for transitioning patients from PPV-T to NPPV. This study aimed to describe the clinical course and outcome of children with CCHS who underwent TD and transitioned from PPV-T to NPPV. Read More

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[A new hypothesis on vascular calcifi cation: the exhausting buff er syndrome (EBS)].

Neuropsychopharmacol Hung 2021 03;23(1):215-220

Municipal Clinic of Szentendre, Internal Medicine Szentendre,

Here we propose that the Western world lifestyle disrupts phosphate metabolism and homeostasis due to caloric or acidic hyperphagia. Psychic factors such as social defeat due to stressed social coexistence characterized by reduced activity and chronic hypoventilation (hypercapnia) also play a role. At least two mechanisms mediate the harmful vascular eff ects of phosphates with intracellular acidosis being a feature in both of them. Read More

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A Common 3'UTR Variant of the Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population.

Front Neurol 2021 19;12:642735. Epub 2021 Mar 19.

Laboratorio di Genetica e Genomica delle Malattie Rare, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Giannina Gaslini, Genoa, Italy.

Heterozygous mutations in the Paired like homeobox 2b () gene are causative of congenital central hypoventilation syndrome (CCHS), a rare monogenic disorder belonging to the family of neurocristopathies and due to a defective development of the autonomic nervous system. Most patients manifest sudden symptoms within 1 year of birth, mainly represented by central apnea and cyanosis episodes. The sudden appearance of hypoxic manifestations in CCHS and their occurrence during sleep resemble two other unexplained perinatal disorders, apparent life-threatening event (ALTE) and sudden and unexpected infant death (SUID), among which the vast majority is represented by sudden infant death syndrome (SIDS). Read More

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[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].

Zhonghua Er Ke Za Zhi 2021 Apr;59(4):280-285

Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.

To explore the underlying genetic causes of neonatal encephalopathy complicated with perinatal asphyxia. From the neonates recruited to the Neonatal Genome Project of Children's Hospital of Fudan University between January 2016 and January 2019, 113 neonates with neonatal encephalopathy and acute peripartum or intrapartum event or Apgar score ≤7 were enrolled in this study. The clinical data, laboratory results, the findings of electroencephalograph and magnetic resonance imaging or head ultrasound, and the genetic information were retrospectively analyzed. Read More

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Markers of adipose tissue hypoxia are elevated in subcutaneous adipose tissue of severely obese patients with obesity hypoventilation syndrome but not in the moderately obese.

Int J Obes (Lond) 2021 Mar 23. Epub 2021 Mar 23.

Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

It has been suggested that metabolic dysfunction in obesity is at least in part driven by adipose tissue (AT) hypoxia. However, studies on AT hypoxia in humans have shown conflicting data. Therefore we aimed to investigate if markers of AT hypoxia were present in the subcutaneous AT of severly obese individuals (class III obesity) with and without hypoventilation syndrome (OHS) in comparison to moderately obese (class I obesity) and lean controls. Read More

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The air that we (do not) breathe: lower adipose tissue oxygen availability in patients with obesity hypoventilation syndrome?

Gijs H Goossens

Int J Obes (Lond) 2021 Mar 23. Epub 2021 Mar 23.

Department of Human Biology, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University Medical Centre+, Maastricht, The Netherlands.

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Recurrent apnoea and respiratory failure in an infant: congenital central hypoventilation syndrome with a novel gene variant.

BMJ Case Rep 2021 Mar 19;14(3). Epub 2021 Mar 19.

Pediatric Pulmonology and Sleep Medicine, Emory University School of Medicine, Atlanta, Georgia, USA

A 20-day-old term infant presented with recurrent apnoea, lethargy and respiratory failure. Examination revealed episodes of apnoea and desaturation to 85% without any signs of respiratory distress requiring initiation of non-invasive positive pressure ventilation (NPPV). Capillary blood gas was indicative of respiratory acidosis and serum bicarbonate was elevated at 35 mmol/L. Read More

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Acute hemodynamic effects of non-invasive ventilation in patients with obesity hypoventilation syndrome.

Bratisl Lek Listy 2021 ;122(4):248-250

Objective: To evaluate the acute effects of volume-targeted non-invasive ventilation (NIV) on hemodynamic parameters assessed by impedance cardiography in patients with obesity hypoventilation syndrome (OHS).

Background: Despite the well-described beneficial effects of NIV using volume-targeted pressure support ventilation modes on respiration in OHS patients, questions were raised about the impact of this treatment on the cardiovascular system.

Methods: In 15 patients (10 men; mean age, 55. Read More

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Heart rate variability changes by non-invasive ventilation in obesity hypoventilation syndrome.

Clin Respir J 2021 Mar 16. Epub 2021 Mar 16.

Center of Sleep Medicine, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Background: Non-invasive positive pressure ventilation (NIPPV) is known to enhance hypoventilation and is particularly adopted as a treatment for patients diagnosed with obesity hypoventilation syndrome (OHS). The augmented risk of cardiovascular morbidity is known as a side effect of OHS.

Aims: In this paper, this inference is examined that hypoventilation and the increased risk of morbidity can be diagnosed via the assessment of changes in heart rate variability (HRV). Read More

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Severity of RSV infection in Southern European elderly patients during two consecutive winter seasons (2017-2018).

J Med Virol 2021 Mar 11. Epub 2021 Mar 11.

Department of Public Health and Pediatrics, Microbiology and Virology Unit, University Hospital Città della Salute e della Scienza di Torino, Turin, Italy.

In Europe, the respiratory syncytial virus (RSV) surveillance system is very heterogeneous and there is growing evidence of the importance of RSV infections resulting in hospitalization of elderly patients. The aim of this study was to assess the severity of RSV infection in the elderly living in the aged Southern European countries. We conducted a retrospective study of elderly patients ( ≥65-year old) admitted for laboratory-confirmed RSV infection in three tertiary hospitals in Portugal, Italy, and Cyprus over two consecutive winter seasons (2017-2018). Read More

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[Deterioration of gas exchange in subjects with an increase in body mass index at an altitude of 2,240 meters above sea level].

Arch Cardiol Mex 2021 ;91(1):7-16

Departamento de Enseñanza, Unidad Médica de Alta Especialidad, Hospital de Especialidades del Centro Médico Nacional La Raza, Instituto Mexicano del Seguro Social. Ciudad de México, México.

Introducción: Las alteraciones del intercambio gaseoso se han reconocido en la obesidad mórbida; sin embargo, no se conoce su comportamiento conforme se incrementa el índice de masa corporal.

Objetivo: Conocer el comportamiento del intercambio gaseoso a la altura de la Ciudad de México en el desarrollo de obesidad mórbida.

Métodos: Mediante un diseño transversal analítico se estudió a sujetos pareados por género y edad de cuatro grupos diferentes de índice de masa corporal (kg/m): normal (18. Read More

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January 2021

Infectious aetiologies of severe acute chest syndrome in sickle-cell adult patients, combining conventional microbiological tests and respiratory multiplex PCR.

Sci Rep 2021 Mar 1;11(1):4837. Epub 2021 Mar 1.

Assistance Publique-Hôpitaux de Paris, Service de Médecine intensive réanimation, Hôpital Tenon, 4, rue de la Chine, 75020, Paris, France.

Acute chest syndrome (ACS) is the most serious complication of sickle cell disease. The pathophysiology of ACS may involve lower respiratory tract infection (LRTI), alveolar hypoventilation and atelectasis, bone infarcts-driven fat embolism, and in situ pulmonary artery thrombosis. One of the most challenging issues for the physicians is to diagnose LRTI as the cause of ACS. Read More

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Neonatal PURA syndrome: a case report and literature review.

Transl Pediatr 2021 Jan;10(1):194-203

Department of Pediatrics, Peking University Shenzhen Hospital, Shenzhen, China.

The study's purpose is to investigate the clinical characteristics and research progress of PURA syndrome. It will also provide new ideas and methods for the diagnosis of neonatal hypotonia etiology. A case of PURA syndrome admitted to Shenzhen Hospital of Peking University was analyzed retrospectively. Read More

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January 2021

Leptin receptor expression in the dorsomedial hypothalamus stimulates breathing during NREM sleep in db/db mice.

Sleep 2021 Feb 24. Epub 2021 Feb 24.

Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Study Objectives: Obesity leads to obstructive sleep apnea (OSA), which is recurrent upper airway obstruction during sleep, and obesity hypoventilation syndrome (OHS), hypoventilation during sleep resulting in daytime hypercapnia. Impaired leptin signaling in the brain was implicated in both conditions, but mechanisms are unknown. We have previously shown that leptin stimulates breathing and treats OSA and OHS in leptin- deficient ob/ob mice and leptin-resistant diet-induced obese mice and that leptin's respiratory effects may occur in the dorsomedial hypothalamus (DMH). Read More

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February 2021

A sudden presentation of abdominal compartment syndrome.

Anaesthesiol Intensive Ther 2021 ;53(1):93-96

Department of Computational and Mathematical Sciences, California Institute of Technology, Pasadena, United States.

Abdominal compartment syndrome (ACS) is defined as sustained intra-abdominal pressure (IAP) exceeding 20 mm Hg, which causes end-organ damage due to impaired tissue perfusion, as with other compartment syndromes [1, 2]. This dysfunction can extend beyond the abdomen to other organs like the heart and lungs. ACS is most commonly caused by trauma or surgery to the abdomen. Read More

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January 2021

Severe Obstructive Sleep Apnoea Leading to Raised Intracranial Pressure Hydrocephalus in a Patient with Aqueduct Stenosis.

Eur J Case Rep Intern Med 2021 14;8(1):002229. Epub 2021 Jan 14.

Portiuncula University Hospital, Ballinasloe, Ireland.

We present the case of a patient with severe obstructive sleep apnoea (OSA) and hypoventilation syndrome who had hydrocephalus and acquired aqueduct stenosis. A link between these conditions in our patient is postulated. We discuss the mechanisms through which this might have occurred and the potential problems which might arise in applying non-invasive ventilation to a patient with hydrocephalus. Read More

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January 2021

The prevalence and impact of pre-existing sleep disorder diagnoses and objective sleep parameters in patients hospitalized for COVID-19.

J Clin Sleep Med 2021 05;17(5):1039-1050

Sleep and Circadian Research Laboratory, Department of Psychiatry, University of Michigan, Ann Arbor, Michigan.

Study Objectives: Obstructive sleep apnea and other sleep disorders overlap with comorbidities associated with poor outcomes related to severe acute respiratory syndrome coronavirus 2 infection. However, the prevalence of obstructive sleep apnea among patients hospitalized for COVID-19 and relationship to outcomes is poorly characterized, and the relevance of other sleep disorders remains unknown. The objective of this study was to identify the prevalence of pre-existing sleep disorders and association with outcomes related to severe COVID-19 illness. Read More

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ROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) Syndrome-What Every Pediatrician Should Know About the Etiopathogenesis, Diagnosis and Treatment: A Review.

Int J Gen Med 2021 29;14:319-326. Epub 2021 Jan 29.

Community Medicine Department, University of Medicine and Pharmacy "Iuliu Hatieganu", Cluj-Napoca, Romania.

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) syndrome is a rare disease with unknown and debated etiology, characterized by precipitous obesity in young children, hypoventilation and autonomic dysregulation with various endocrine abnormalities. Neuroendocrine tumors can be associated in more than half of the cases. This rare condition has a severe outcome because of high morbidity and mortality. Read More

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January 2021

The Vagal Autonomic Pathway of COVID-19 at the Crossroad of Alzheimer's Disease and Aging: A Review of Knowledge.

J Alzheimers Dis Rep 2020 Dec 28;4(1):537-551. Epub 2020 Dec 28.

Division of Geriatric Medicine, Tours University Hospital, Tours, France.

Coronavirus Disease 2019 (COVID-19) pandemic-triggered mortality is significantly higher in older than in younger populations worldwide. Alzheimer's disease (AD) is related to aging and was recently reported to be among the major risk factors for COVID-19 mortality in older people. The symptomatology of COVID-19 indicates that lethal outcomes of infection rely on neurogenic mechanisms. Read More

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December 2020