Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Noninvasive ventilation via bilevel positive airway pressure improved sleep in a child with congenital central hypoventilation syndrome: A case report.

ABSTRACT: We report the polysomnography findings of a 2-year-old girl who was previously diagnosed with CCHS and treated with bilevel positive airway pressure (BiPAP) and O₂ supplementation for a year. The girl had convulsions 2 times in the last 10 days. After we replaced her nasal cannula with a nasal mask and adjusted the parameters of the BiPAP, her sleep and ventilation were improved. The polysomnographies measured under spontaneous breathing without oxygen supplementation showed that her sleep structure, heart rate, and oxygen saturation during sleep were improved 1 month and 1 year after effective BiPAP treatment.

SUBMITTER: Yang L

PROVIDER: S-EPMC9582682 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Noninvasive ventilation via bilevel positive airway pressure improved sleep in a child with congenital central hypoventilation syndrome: A case report.

Yang Liqiang L Qiu Shuyao S Zhong Jianwen J Liu Dabo D

Clinical case reports 20221020 10

We report the polysomnography findings of a 2-year-old girl who was previously diagnosed with CCHS and treated with bilevel positive airway pressure (BiPAP) and O<sub>2</sub> supplementation for a year. The girl had convulsions 2 times in the last 10 days. After we replaced her nasal cannula with a nasal mask and adjusted the parameters of the BiPAP, her sleep and ventilation were improved. The polysomnographies measured under spontaneous breathing without oxygen supplementation showed that her ...[more]

PMID: 36276908

Similar Datasets

Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)

Project description:Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic and respiratory regulation that frequently alters oxygen delivery to the brain. In CCHS, neurocognitive function has been of great concern because of the potential for repeated hypoxemia and hypercarbia in activities of daily living in addition to hypoventilation with related hypoxemia and hypercarbia during sleep. As the world’s leading referral center for CCHS, the Center for Autonomic Medicine in Pediatrics (CAMP) is engaged in ongoing research to identify factors that impact neurocognitive performance in patients with CCHS in order to optimize clinical management and improve long term neurocognitive outcomes. The purpose of this IRB-approved research study is to implement the NIH Toolbox as a standard measurement of cognitive health in patients with CCHS. Further, the study aims to determine how intrinsic and extrinsic disease factors such as age at diagnosis, PHOX2B mutation type and genotype, and nature of past and present artificial respiratory intervention affect the NIH Toolbox Cognitive scores of individuals with CCHS. Eligible participants will complete a 45-minute NIH Toolbox assessment and parents (or adult participants) will complete an associated, 15-minute Research Electronic Data Capture (REDCap) questionnaire.

| 2276268 | ecrin-mdr-crc

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

Project description:Later-onset congenital central hypoventilation syndrome (LO-CCHS) does not present only breathing problems but can be present as episodic multiple organs involvement. Our unique case demonstrated LO-CCHS should be considered in the differential diagnosis of mitochondrial diseases and having nontypical polysomnography result.

| S-EPMC5838278 | biostudies-literature

Long Term Non-invasive Ventilation in Children With Central Hypoventilation.

Project description:Central hypoventilation (CH) is a quite rare disorder caused by some congenital or acquired conditions. It is featured by increased arterial concentration of serum carbon dioxide related to an impairment of respiratory drive. Patients affected by CH need to be treated by mechanical ventilation in order to achieve appropriate ventilation and oxygenation both in sleep and wakefulness. In fact, in severe form of Congenital Central Hypoventilation Syndrome (CCHS) hypercarbia can be present even during the day. Positive pressure ventilation via tracheostomy is the first therapeutic option in this clinical condition, especially in congenital forms. Non-Invasive ventilation is a an option that must be reserved for more stable clinical situations and that requires careful monitoring over time.

| S-EPMC7316889 | biostudies-literature

Identification of new therapeutic candidates for Congenital Central Hypoventilation Syndrome

Project description:Congenital central hypoventilation syndrome (CCHS), a rare genetic disease caused by heterozygous PHOX2B mutations, is characterized by life-threatening breathing deficiencies. PHOX2B is a transcription factor required for the specification of the autonomous nervous system that contains respiratory centers. To date, the only treatment offered to patients is mechanical ventilatory support. Therefore, identifying molecules with potential alleviating effects is of prime importance. A transcriptomic dataset from cells transiently expressing both wild type and variant PHOX2B allowed to run the CMap online tool and to identify, using in vitro models, drug compounds capable of relocating PHOX2B mutated proteins in the nucleus and restoring proper regulation of PHOX2B target gene expression. Subsequently, we tested the most efficient molecule ex vivo on hindbrain preparations isolating the principal components of the central respiratory command. Our results provide evidence that the HDAC inhibitor Vorinostat, also known as SAHA, is a promising molecule for the treatment of CCHS

2024-10-10 | GSE250244 | GEO

Neurocognitive functioning in individuals with congenital central hypoventilation syndrome.

Project description:BackgroundCongenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by respiratory system abnormalities, including alveolar hypoventilation and autonomic nervous system dysregulation. CCHS is associated with compromised brain development and neurocognitive functioning. Studies that evaluate cognitive skills in CCHS are limited, and no study has considered cognitive abilities in conjunction with psychosocial and adaptive functioning. Moreover, the roles of pertinent medical variables such as genetic characteristics are also important to consider in the context of neurocognitive functioning.MethodsSeven participants with CCHS ranging in age from 1 to 20 years underwent neuropsychological evaluations in a clinic setting.ResultsNeurocognitive testing indicated borderline impaired neurocognitive skills, on average, as well as relative weaknesses in working memory. Important strengths, including good coping skills and relatively strong social skills, may serve as protective factors in this population.ConclusionCCHS was associated with poor neurocognitive outcomes, especially with some polyalanine repeat expansion mutations (PARMS) genotype. These findings have important implications for individuals with CCHS as well as medical providers for this population.

| S-EPMC7203975 | biostudies-literature

Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome.

Project description:The developmental lineage of the PHOX2B-expressing neurons in the retrotrapezoid nucleus (RTN) has been extensively studied. These cells are thought to function as central respiratory chemoreceptors, i.e., the mechanism by which brain Pco2 regulates breathing. The molecular and cellular basis of central respiratory chemoreception is based on the detection of CO2 via intrinsic proton receptors (TASK-2, GPR4) as well as synaptic input from peripheral chemoreceptors and other brain regions. Murine models of congenital central hypoventilation syndrome designed with PHOX2B mutations have suggested RTN neuron agenesis. In this review, we examine, through human and experimental animal models, how a restricted number of neurons that express the transcription factor PHOX2B play a crucial role in the control of breathing and autonomic regulation.

| S-EPMC6208311 | biostudies-literature

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.

Project description:BackgroundCongenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. BODY: This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research.ConclusionAwareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.

| S-EPMC7503443 | biostudies-literature

Efficacy of bilevel positive airway pressure and continuous positive airway pressure therapy in patients with obesity hypoventilation syndrome: protocol for systematic review and meta-analysis.

Project description:INTRODUCTION:Obesity hypoventilation syndrome (OHS) is a major respiratory complication caused by severe obesity, being associated with significant morbidity, negative impacts on quality of life and reduced survival if not treated appropriately. Positive airway pressure therapy is the first-line treatment for OHS although the optimal modality remains unclear. The goal of this study is to identify the efficacy of home bilevel positive airway pressure therapy by comparison to continuous positive airway pressure therapy and determine the best strategy for patients with OHS. METHODS AND ANALYSIS:This study will be conducted following the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols 2015 statement. We will search the following databases: PubMed, Web of Science, EMBASE, Cochrane Central Register of Controlled Trials and CINAHL. Ongoing studies will be identified through the ClinicalTrials.gov and WHO International Clinical Trials Registry Platform Search Portal. Grey literature will be recognised through Google Scholar and other search engines. Only randomised controlled trials meeting the eligibility criteria will be included. The risk of bias of the included studies will be evaluated through the Cochrane Collaboration's tool. RevMan V.5.3.5 software will be used for data analysis. The Q statistic and I2 index will be used for investigating heterogeneity, and subgroup analysis or sensitivity analysis will be used to explore the source of heterogeneity. In addition, the Grading of Recommendations Assessment, Development and Evaluation system will be used to inspect the quality of evidence. ETHICS AND DISSEMINATION:Ethics approval is not required because this study contains no primary data collected from humans. This systematic review and meta-analysis will be submitted to a peer-reviewed journal for publication. PROSPERO REGISTRATION NUMBER:CRD42017078369.

| S-EPMC5942402 | biostudies-literature

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.

Project description:Congenital central hypoventilation syndrome (CCHS) is a neurocristopathy caused by pathogenic heterozygous variants in the gene paired-like homeobox 2b (PHOX2B). It is characterized by severe infantile alveolar hypoventilation. Individuals may also have diffuse autonomic nervous system dysfunction, Hirschsprung disease and neural crest tumors. We report three individuals with CCHS due to an 8-base pair duplication in PHOX2B; c.691_698dupGGCCCGGG (p.Gly234Alafs*78) with a predominant enteral and neural crest phenotype and a relatively mild respiratory phenotype. The attenuated respiratory phenotype reported here and elsewhere suggests an emergent genotype:phenotype correlation which challenges the current paradigm of invoking mechanical ventilation for all infants diagnosed with CCHS. Best treatment requires careful clinical judgment and ideally the assistance of a care team with expertise in CCHS.

| S-EPMC5992090 | biostudies-literature

Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS).

Project description:Congenital central hypoventilation syndrome (CCHS) is a genetic disorder of neurodevelopment, with an autosomal dominant transmission, caused by heterozygous mutations in the PHOX2B gene. CCHS is a rare disorder characterized by hypoventilation due to the failure of autonomic control of breathing. Until now no curative treatment has been found. PHOX2B is a transcription factor that plays a crucial role in the development (and maintenance) of the autonomic nervous system, and in particular the neuronal structures involved in respiratory reflexes. The underlying pathogenetic mechanism is still unclear, although studies in vivo and in CCHS patients indicate that some neuronal structures may be damaged. Moreover, in vitro experimental data suggest that transcriptional dysregulation and protein misfolding may be key pathogenic mechanisms. This review summarizes latest researches that improved the comprehension of the molecular pathogenetic mechanisms responsible for CCHS and discusses the search for therapeutic intervention in light of the current knowledge about PHOX2B function.

| S-EPMC7835644 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data