3,149 results match your criteria Hypoventilation Syndromes

Neurocognitive Monitoring in Congenital Central Hypoventilation Syndrome with the NIH ToolboxⓇ.

Pediatr Pulmonol 2022 May 16. Epub 2022 May 16.

Northwestern University Feinberg School of Medicine, Chicago, IL, United States.

Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy, caused by mutations in the paired-like homeobox gene PHOX2B, which alters control of breathing and autonomic nervous system regulation, necessitating artificial ventilation as life-support. A broad range of neurocognitive performance has been reported in CCHS, including an array of cognitive deficits. We administered the NIH ToolboxⓇ Cognition Battery (NTCB), a novel technology comprised of seven tasks presented via an interactive computer tablet application, to a CCHS cohort and studied its convergent and divergent validity relative to traditional clinical neurocognitive measures. Read More

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OSA and Chronic Respiratory Disease: Mechanisms and Epidemiology.

Int J Environ Res Public Health 2022 Apr 30;19(9). Epub 2022 Apr 30.

Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, University of Utah, 26 N 1900 E, Wintrobe 701, Salt Lake City, UT 84132, USA.

Obstructive sleep apnea (OSA) is a highly prevalent disorder that has profound implications on the outcomes of patients with chronic lung disease. The hallmark of OSA is a collapse of the oropharynx resulting in a transient reduction in airflow, large intrathoracic pressure swings, and intermittent hypoxia and hypercapnia. The subsequent cytokine-mediated inflammatory cascade, coupled with tractional lung injury, damages the lungs and may worsen several conditions, including chronic obstructive pulmonary disease, asthma, interstitial lung disease, and pulmonary hypertension. Read More

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Etonogestrel Administration Reduces the Expression of PHOX2B and Its Target Genes in the Solitary Tract Nucleus.

Int J Mol Sci 2022 Apr 27;23(9). Epub 2022 Apr 27.

Department of Physiology, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G2E1, Canada.

Heterozygous mutations of the transcription factor are responsible for Congenital Central Hypoventilation Syndrome, a neurological disorder characterized by inadequate respiratory response to hypercapnia and life-threatening hypoventilation during sleep. Although no cure is currently available, it was suggested that a potent progestin drug provides partial recovery of chemoreflex response. Previous in vitro data show a direct molecular link between progestins and PHOX2B expression. Read More

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Perioperative outcomes and the effects of anesthesia in congenital central hypoventilation patients.

Sleep Breath 2022 May 13. Epub 2022 May 13.

Keck School of Medicine of University of Southern California, Los Angeles, CA, USA.

Purpose: Patients with congenital central hypoventilation syndrome (CCHS) have autonomic dysfunction and lack ventilatory responses to hypoxemia and hypercarbia and thus are prone to adverse events during general anesthesia. The objective of this study was to describe the perioperative outcomes of patients with CCHS who were undergoing diaphragm pacer (DP) implantation surgeries under general anesthesia.

Methods: A retrospective cohort study was conducted on patients with CCHS who underwent DP implantation surgeries at CHLA between January 2000 and May 2016. Read More

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HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant.

Pediatr Pulmonol 2022 May 11. Epub 2022 May 11.

Department of Paediatrics, Respiratory Medicine Service, KK Women's & Children's Hospital, Singapore, Singapore.

Background: HIDEA (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy and eye abnormalities) syndrome is a rare and novel disease. We describe a premature patient who required extensive work up for his hypoventilation with a diagnosis of HIDEA syndrome.

Case Description: The patient was born to a pair of consanguineous parents at 32-week gestation. Read More

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Obesity Hypoventilation Syndrome and Postsurgical Outcomes in a Bariatric Surgery Cohort.

Obes Surg 2022 May 11. Epub 2022 May 11.

Division of Pulmonary, Critical Care, & Sleep Medicine, UC San Diego Health, San Diego, CA, 92109, USA.

Purpose: Patients with obesity and elevated serum bicarbonate suggesting obesity hypoventilation syndrome (OHS) undergoing bariatric surgery may represent a unique subgroup. Information regarding surgical outcomes in this population remains limited. We sought to test the hypothesis that an elevated bicarbonate would be an important predictor of perioperative complications (i. Read More

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Multidrug-Resistant Developed During Treatment of Ommaya Reservoir Infection.

Int Med Case Rep J 2022 3;15:231-234. Epub 2022 May 3.

Department of Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Okinawa, 901-1193, Japan.

, a common component of the skin and mucosal microbiota of both immunocompetent and immunocompromised individuals, has become an emerging pathogen, colonizing indwelling medical devices and causing infections at multiple sites. A 3-year-old boy with an Ommaya reservoir in the right ventricle and a medical history of grade 3 intraventricular hemorrhage, Hirschsprung disease, catheter-related methicillin-resistant bacteremia, and congenital central hypoventilation syndrome was hospitalized for Ommaya reservoir infection with . He was treated with ampicillin, to which the initial isolate was susceptible. Read More

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Metabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022.

Am J Kidney Dis 2022 May 4. Epub 2022 May 4.

Division of Nephrology, Department of Medicine, University of New Mexico Health Sciences Center, Albuquerque, New Mexico. Electronic address:

Metabolic alkalosis is a widespread acid-base disturbance, especially in hospitalized patients. It is characterized by the primary elevation of serum bicarbonate and arterial pH, along with a compensatory increase in Pco consequent to adaptive hypoventilation. The pathogenesis of metabolic alkalosis involves either a loss of fixed acid or a net accumulation of bicarbonate within the extracellular fluid. Read More

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Tracheobronchomalacia and Excessive Dynamic Airway Collapse: Current Concepts and Future Directions.

Radiographics 2022 May 6:210155. Epub 2022 May 6.

From the Department of Radiology, Division of Cardiothoracic Imaging (A.A., E.C.S., E.L., P.P.A.), Division of Pulmonary and Critical Care Medicine, Department of Medicine, Section of Thoracic Surgery, Department of Surgery (J.D.L.C.), Department of Otolaryngology-Head and Neck Surgery (R.J.M.), Department of Surgery (K.H.L.), Michigan Medicine, 1500 E Medical Center Dr, Ann Arbor, MI 48109; Department of Surgery, Ann Arbor Veterans Hospital, Ann Arbor, Mich (K.H.L.); and Department of Radiology, Division of Cardiothoracic Imaging, Beth Israel Deaconess Medical Center, Boston, Mass (D.L.).

Tracheobronchomalacia (TBM) and excessive dynamic airway collapse (EDAC) are airway abnormalities that share a common feature of expiratory narrowing but are distinct pathophysiologic entities. Both entities are collectively referred to as expiratory central airway collapse (ECAC). The or weakness of cartilage that supports the tracheobronchial tree may occur only in the trachea (ie, tracheomalacia), in both the trachea and bronchi (TBM), or only in the bronchi (bronchomalacia). Read More

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

PLoS One 2022 29;17(4):e0267751. Epub 2022 Apr 29.

Department of Forensic Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan.

Background: Congenital central hypoventilation syndrome (CCHS), which is caused by PHOX2B with phenotypic variations, has a point of controversy: CCHS is putatively involved in autopsy cases of sudden unexpected infant death (SUID) including sudden infant death syndrome.

Objective: The relation of CCHS to SUID cases was investigated by extensive genotyping of PHOX2B.

Methods: We analyzed 93 DNA samples of less than one-year-old SUID cases that were autopsied in our department. Read More

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Rituximab therapy in ROHHAD(NET) syndrome.

J Pediatr Endocrinol Metab 2022 Apr 26. Epub 2022 Apr 26.

NIHR Biomedical Research Centre (Nutrition Theme), University of Bristol, Bristol, UK.

Objectives: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation, and neural-crest tumour (ROHHAD(NET)) is a rare syndrome presenting in early childhood associated with high morbidity and mortality. There is no specific diagnostic biomarker and diagnosis is based on clinical features. An autoimmune origin has been postulated. Read More

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ZSCAN1 autoantibodies are associated with pediatric paraneoplastic ROHHAD.

Ann Neurol 2022 Apr 25. Epub 2022 Apr 25.

Chan Zuckerberg Biohub, Department of Biochemistry and Biophysics, University of California, San Francisco, California.

Objective: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD), is a severe pediatric disorder of uncertain etiology resulting in hypothalamic dysfunction and frequent sudden death. Frequent co-occurrence of neuroblastic tumors have fueled suspicion of an autoimmune paraneoplastic neurological syndrome (PNS); however, specific anti-neural autoantibodies, a hallmark of PNS, have not been identified. Our objective is to determine if an autoimmune paraneoplastic etiology underlies ROHHAD. Read More

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Impaired ventilation during 6-min walk test in congenital central hypoventilation syndrome.

Pediatr Pulmonol 2022 Apr 22. Epub 2022 Apr 22.

Department of Pediatrics, Division of Pediatric Pulmonology, Children's Healthcare of Atlanta, Emory University, Atlanta, Georgia, USA.

Background: Patients with congenital central hypoventilation syndrome (CCHS) can develop hypoxemia and hypercapnia during exercise. However, there is limited literature on cardiorespiratory responses during submaximal exercise and their correlation with paired-like homeobox 2B (PHOX2B) genotype.

Objectives: To assess oxygen saturation (SpO ), end-tidal carbon dioxide (ETCO ), heart rate (HR), and 6-min walk distance (6MWD) during a 6-min walk test (6MWT) in CCHS subjects and to correlate them with PHOX2B genotypes and assisted ventilation (AV) via tracheostomy. Read More

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Case Report: COVID-19-Associated ROHHAD-Like Syndrome.

Front Pediatr 2022 31;10:854367. Epub 2022 Mar 31.

Almazov National Medical Research Centre, Saint Petersburg, Russia.

It is known that the SARS-CoV-2 virus may cause neurologic damage. Rapid-onset obesity, hypoventilation, hypothalamus dysfunction, and autonomic dysregulation (ROHHAD) syndrome is a disease of unknown etiology with a progressive course and unclear outcomes. The etiology of ROHHAD syndrome includes genetic, epigenetic, paraneoplastic, and immune-mediated theories, but to our knowledge, viral-associated cases of the disease have not been described yet. Read More

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Non-invasive ventilation using a novel ventilator and non-vented full-face mask for patients with respiratory failure during the COVID-19 pandemic: Report of three cases.

Respir Investig 2022 Apr 6. Epub 2022 Apr 6.

Department of Sleep Medicine and Respiratory Care, Division of Sleep Medicine, Department of Internal Medicine, Nihon University School of Medicine, 30-1 Ohyaguchi kami-cho, Itabashi-ku, Tokyo, 173-8610, Japan; Center for Genomic Medicine, Kyoto University Graduate School of Medicine, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan. Electronic address:

The Japanese government's latest manual on COVID-19 management mentions non-invasive ventilation (NIV). Before this version, we experienced three cases in which COVID-19 was a concern. Each case had one of the following conditions: obesity hypoventilation syndrome, amyotrophic lateral sclerosis, acute heart failure with acute kidney injury with hypercapnia. Read More

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Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.

Stem Cell Res 2022 05 7;61:102781. Epub 2022 Apr 7.

Department of Medical Biotechnology and Translational Medicine (BIOMETRA), Università degli Studi di Milano, Milan, Italy; CNR - Institute of Neuroscience, Milan, Italy. Electronic address:

Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of the autonomic nervous system (ANS), characterized by inadequate control of autonomic ventilation and global autonomic dysfunction. Heterozygous polyalanine repeat expansion mutations in exon 3 of the transcription factor Paired-like homeobox 2B (PHOX2B) gene occur in 90% of CCHS cases. In this study, we describe the generation and characterization of two human induced pluripotent stem cell (hiPSC) lines from female CCHS patients carrying a heterozygous + 5 alanine expansion mutation. Read More

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Identification of clinical factors related to antibody-mediated immune response to the subfornical organ.

Clin Endocrinol (Oxf) 2022 Apr 13. Epub 2022 Apr 13.

Molecular Profiling Research Center for Drug Discovery, National Institute of Advanced Industrial Science and Technology, Tokyo, Japan.

Objective: We recently reported cases of adipsic hypernatremia caused by autoantibodies against the subfornical organ in patients with hypothalamic-pituitary lesions. This study aimed to clarify the clinical features of newly identified patients with adipsic hypernatremia whose sera displayed immunoreactivity to the mouse subfornical organ.

Design: Observational cohort study of patients diagnosed with adipsic hypernatremia in Japan, United States, and Europe. Read More

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Sleep Disorders in Adults with Prader-Willi Syndrome: Review of the Literature and Clinical Recommendations Based on the Experience of the French Reference Centre.

J Clin Med 2022 Apr 2;11(7). Epub 2022 Apr 2.

Centre de Référence des Narcolepsies et Hypersomnies Rares, Service des Pathologies du Sommeil (Département R3S), Hôpital la Pitié-Salpêtrière, APHP-Sorbonne, 75013 Paris, France.

Prader-Willi syndrome (PWS) is a rare, genetic, multisymptomatic, neurodevelopmental disease commonly associated with sleep alterations, including sleep-disordered breathing and central disorders of hypersomnolence. Excessive daytime sleepiness represents the main manifestation that should be addressed by eliciting the detrimental effects on quality of life and neurocognitive function from the patients' caregivers. Patients with PWS have impaired ventilatory control and altered pulmonary mechanics caused by hypotonia, respiratory muscle weakness, scoliosis and obesity. Read More

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Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach.

J Multidiscip Healthc 2022 8;15:455-469. Epub 2022 Mar 8.

Department of Pediatrics, Division of Pediatric Pulmonology and Sleep Medicine, Emory University, Children's Healthcare of Atlanta, Atlanta, GA, USA.

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder affecting respiratory control and autonomic nervous system function caused by variants in the paired-like homeobox 2B () gene. Although most patients are diagnosed in the newborn period, an increasing number of patients are presenting later in childhood, adolescence, and adulthood. Despite hypoxemia and hypercapnia, patients do not manifest clinical features of respiratory distress during sleep and wakefulness. Read More

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Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2).

Mol Genet Genomic Med 2022 Mar 28. Epub 2022 Mar 28.

Department of Pediatrics, Japanese Red Cross Society Wakayama Medical Center, Wakayama City, Japan.

Background: Schaaf-Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein-coding genes within the Prader-Willi syndrome (PWS) critical domain. SYS shares many clinical and molecular characteristics with PWS but has some distinct features, such as joint contractures and autism. Patients with PWS show abnormal electroencephalography (EEG) patterns. Read More

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Chewing gum, alternative therapy to oxygen intolerance.

J Clin Sleep Med 2022 Mar 25. Epub 2022 Mar 25.

Division of Respiratory Medicine, Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada.

Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is a rare complex disorder associated with alterations in the endocrine system, autonomic nervous system, and respiratory system. Previously published case reports and studies have noted sleep-disordered breathing (SDB) in patients with ROHHAD syndrome. Nocturnal respiratory manifestations which if untreated early by respiratory support may cause cardiorespiratory arrest and life-threatening condition. Read More

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Respiratory Muscle Endurance in Obesity Hypoventilation Syndrome.

Respir Care 2022 05 22;67(5):526-533. Epub 2022 Mar 22.

Istanbul University, Istanbul Faculty of Medicine, Department of Chest Diseases, Istanbul, Turkey.

Background: An increase in respiratory work load and resistance to respiration cause a decrease in respiratory muscle endurance (RME) in patients with obesity hypoventilation syndrome (OHS). We aimed to evaluate and compare RME in subjects with OHS and a control group using an incremental load test and compare the RME of subjects with OHS in whom noninvasive ventilation (NIV) was and was not used.

Methods: Forty subjects with OHS (divided according to body mass index [BMI] as group I: 30-40 kg/m; and group II: ≥ 40 kg/m) and 20 subjects with obesity (control group: 30-40 kg/m) were included in the study. Read More

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Effectiveness of CPAP vs. Noninvasive Ventilation Based on Disease Severity in Obesity Hypoventilation Syndrome and Concomitant Severe Obstructive Sleep Apnea.

Arch Bronconeumol 2022 Mar 4;58(3):228-236. Epub 2021 Jun 4.

Medicine/Pulmonary and Critical Care, University of Chicago, IL, USA.

Rationale: Obesity hypoventilation syndrome (OHS) with concomitant severe obstructive sleep apnea (OSA) is treated with CPAP or noninvasive ventilation (NIV) during sleep. NIV is costlier, but may be advantageous because it provides ventilatory support. However, there are no long-term trials comparing these treatment modalities based on OHS severity. Read More

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The Overlap of Obesity-Hypoventilation Syndrome and Obstructive Sleep Apnea: How to Treat?

Arch Bronconeumol 2021 Sep 4. Epub 2021 Sep 4.

Department of Medicine, Division of Pulmonary, Critical Care and Sleep Medicine, Rush University Medical Center, Chicago, IL, United States. Electronic address:

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September 2021

Bradyarrhythmia Suspected to be Associated with Sleep Apnea Syndrome.

Int Heart J 2022 Mar 15;63(2):393-397. Epub 2022 Mar 15.

Department of Cardiology, Kawaguchi Municipal Medical Center.

Sleep apnea syndrome (SAS) is a condition in which apnea and hypoventilation at night cause hypoxemia and impaired wakefulness during the day, resulting in a general malaise and dozing. Sleep apnea has been implicated in the development of hypertension, ischemic heart disease, arrhythmia, heart failure, and cerebrovascular disease. Approximately 50% of patients with sleep-disordered breathing have an arrhythmia. Read More

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Effect of different modes of positive airway pressure treatment on obesity hypoventilation syndrome: a systematic review and network meta-analysis.

Sleep Med 2022 03 13;91:51-58. Epub 2022 Jan 13.

Institute of Respiratory and Critical Care Medicine, The First Hospital of China Medical University, Shenyang, China. Electronic address:

Objective: To perform a systematic review and network meta-analysis to provide comparative evidence and quantitative hierarchies of the effectiveness of positive airway pressure (PAP) treatment on obesity hypoventilation syndrome (OHS).

Methods: We searched PubMed, Embase, and Cochrane Library databases for relevant articles about the treatment of OHS published from the time of database creation to February 2021. Two independent reviewers performed the study search and screening, quality assessment and data extraction. Read More

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Diaphragm pacing in congenital central hypoventilation syndrome: A safe and final tool.

Acta Paediatr 2022 Jun 13;111(6):1282. Epub 2022 Mar 13.

Intensive Care Unit, Hospital Morales Meseguer, Murcia, Spain.

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Recognizing New-Onset Sleep Disorders in Autoimmune Encephalitis Often Prompt Earlier Diagnosis.

J Clin Neurophysiol 2022 Feb 28. Epub 2022 Feb 28.

New Mexico Sleep Labs, Rio Rancho, New Mexico, U.S.A.; Omni Sleep, Albuquerque, New Mexico, U.S.A.; Department of Neurology, University of New Mexico, Albuquerque, New Mexico, U.S.A.

Summary: Sleep/wake disorders are common in patients with autoimmune encephalitis, sometimes the most prominent or sole initial symptom, then delaying diagnosis. Sleep/wake disorders in autoimmune encephalitis vary and include severe sleeplessness, hypersomnia, central and/or obstructive sleep apnea, rapid eye movement sleep behavior disorder, indeterminate sleep/wake states, and loss of circadian sleep/wake rhythms. N-methyl-D aspartate receptor encephalitis (NMDAR) is often associated with insomnia, then hypersomnia and sleep-related central hypoventilation. Read More

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February 2022