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https://www.readbyqxmd.com/read/29704303/atypical-presentations-associated-with-non-polyalanine-repeat-phox2b-mutations
#1
Umakanth Katwa, Alissa M D'Gama, Anita E Qualls, Lucas M Donovan, Jody Heffernan, Jiahai Shi, Pankaj B Agrawal
Congenital central hypoventilation syndrome (CCHS) is a disorder of ventilatory control and autonomic dysregulation that can be caused by mutations in the paired-like homeobox 2B (PHOX2B) gene. The majority of CCHS cases are caused by polyalanine repeat mutations (PARMs) in PHOX2B; however, in rare cases, non-polyalanine repeat mutations (NPARMs) have been identified. Here, we report two patients with NPARMs in PHOX2B. Patient 1 has a mild CCHS phenotype seen only on polysomnogram, which was performed for desaturations and stridor following a bronchiolitis episode, and characterized by night-time hypoventilation and a history of ganglioneuroblastoma...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29703452/a-population-based-examination-of-the-co-occurrence-and-functional-correlates-of-chronic-pain-and-generalized-anxiety-disorder
#2
Brian Csupak, Jordana L Sommer, Eric Jacobsohn, Renée El-Gabalawy
OBJECTIVES: This study aimed to: 1) Establish the prevalence of co-occurring chronic pain conditions (i.e., arthritis, back pain, and migraines) and generalized anxiety disorder (GAD), and 2) Examine levels of pain severity, disability, and work absenteeism among comorbid chronic pain conditions and GAD. METHODS: Data were analyzed from the 2012 Canadian Community Health Survey-Mental Health (CCHS-MH; N = 25,113). Chi-square analyses assessed whether significant differences existed in pain severity in those with comorbid chronic pain and GAD versus pain conditions alone...
April 17, 2018: Journal of Anxiety Disorders
https://www.readbyqxmd.com/read/29696799/expanding-the-phenotype-of-congenital-central-hypoventilation-syndrome-impacts-management-decisions
#3
Heather M Byers, Maida Chen, Andrew S Gelfand, Bruce Ong, Marisa Jendras, Ian A Glass
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...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29696617/-clinical-and-neuropsychological-characteristics-in-congenital-central-hypoventilation-syndrome
#4
R Seijas-Gomez, B Esteso-Orduna, J Melero-Llorente, M C Fournier-Del Castillo
INTRODUCTION: Congenital central hypoventilation syndrome (CCHS) syndrome is a rare disease caused by mutations in the PHOX2B gene. Patients show a reduced response to hypercapnia and hypoxia accompanied by diffuse disturbances of the autonomic nervous system and occasionaly also disturbances in neuroimaging. A specific neuropsychological profile has not been described in children and adolescents with CCHS. CASE REPORTS: We describe three cases (aged between 4 and 19 years) with different profiles of affectation in cognitive and functionality...
May 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29679838/medico-legal-investigation-in-an-explicable-case-of-congenital-central-hypoventilation-syndrome-due-to-a-rare-variant-of-the-phox2b-gene
#5
Francesco Ventura, Rosario Barranco, Tiziana Bachetti, Paolo Nozza, Ezio Fulcheri, Antonella Palmieri, Isabella Ceccherini
The heterozygous PHOX2B gene mutation is related to congenital central hypoventilation syndrome (CCHS). It is characterized by defective autonomous nervous system development leading to inadequate breathing response to hypoxia and hypercapnia, leading to hypoventilation especially during non-REM sleep, but also during waking in the more severe cases. Herein we report a case of sudden death in a 28-day-old child. The mother reported the infant was found lying on her own bed in the prone position. The infant was wearing a romper and lying in her crib without any blanket or other objects...
April 17, 2018: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29652525/-reported-concussion-time-trends-within-two-national-health-surveys-over-two-decades
#6
Kevin E Gordon, Stefan Kuhle
BACKGROUND: An 'epidemic' of concussions has been widely reported. We examined the annual incidence of reported concussion or other brain injury, over 20 years within Canada in order to explore the magnitude of this reported epidemic. METHODS: Two Canadian nationally representative health surveys have serially collected injury data associated with disability. The National Population Health Survey (NPHS) collected data on 'concussion' (1994-1999), and the Canadian Community Health Survey (CCHS) collects data on 'concussion or other brain injury' (2000-current)...
April 13, 2018: Brain Injury: [BI]
https://www.readbyqxmd.com/read/29593013/relationship-of-familial-hypercholesterolemia-and-high-ldl-cholesterol-to-ischemic-stroke-the-copenhagen-general-population-study
#7
Sabina Beheshti, Christian M Madsen, Anette Varbo, Marianne Benn, Børge G Nordestgaard
Background -Familial hypercholesterolemia(FH) is a condition with very high concentrations of low-density lipoprotein(LDL) cholesterol and high risk of ischemic heart disease including myocardial infarction. However, there is limited and contradictory information on whether FH and high LDL cholesterol per se confer high risk of ischemic stroke. We tested the hypotheses that individuals in the general population with FH and/or high LDL cholesterol have higher risk of ischemic stroke. Methods -The associations of FH and high LDL cholesterol with ischemic stroke risk were tested in both causal, genetic and observational analyses using 106,412 individuals from the Copenhagen General Population Study(CGPS; 2823 ischemic strokes and 3,792 myocardial infarctions) and/or 10,372 individuals from the Copenhagen City heart Study(CCHS; 945 ischemic strokes and 1,142 myocardial infarctions)...
March 28, 2018: Circulation
https://www.readbyqxmd.com/read/29588456/inhalational-anesthetics-induce-neuronal-protein-aggregation-and-affect-er-trafficking
#8
Matthew Coghlan, Elizabeth Richards, Sadiq Shaik, Pablo Rossi, Ramesh Babu Vanama, Saumel Ahmadi, Christelle Petroz, Mark Crawford, Jason T Maynes
Anesthetic agents have been implicated in the causation of neurological and cognitive deficits after surgery, the exacerbation of chronic neurodegenerative disease, and were recently reported to promote the onset of the neurologic respiratory disease Congenital Central Hypoventilation Syndrome (CCHS), related to misfolding of the transcription factor Phox2B. To study how anesthetic agents could affect neuronal function through alterations to protein folding, we created neuronal cell models emulating the graded disease severity of CCHS...
March 27, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29581956/effects-of-lifestyle-on-muscle-strength-in-a-healthy-danish-population
#9
Else Marie Bartels, Samuel Robertson, Bente Danneskiold-Samsøe, Merete Appleyard, Anders Stockmarr
Background: Lifestyle is expected to influence muscle strength. This study aimed at assessing a possible relationship between smoking, alcohol intake and physical activity, and muscle strength in a healthy Danish population aged 20-79 years. Population study based on data collected from The Copenhagen City Heart Study (CCHS) and measurements of Isokinetic muscle strength from a sub-study of randomly selected healthy participants from CCHS. Methods: 126 women and 63 men were studied...
January 2018: Journal of Lifestyle Medicine
https://www.readbyqxmd.com/read/29554201/gender-sex-differences-in-the-relationship-between-psychosocial-work-exposures-and-work-and-life-stress
#10
Kathy Padkapayeva, Mahée Gilbert-Ouimet, Amber Bielecky, Selahadin Ibrahim, Cameron Mustard, Chantal Brisson, Peter Smith
Objectives: Stress is an important factor affecting the health of working population. While work exposures are determinants of levels of work and life stress, we do not know whether similar or different exposures are related to stress levels for men and women. This study aimed to formally examine male/female differences in the relationships between psychosocial work exposures and work and life stress in a representative sample of Canadian labour market participants. Methods: We used data from 2012 cycle of the Canadian Community Health Survey (CCHS), a representative population-based survey conducted by Statistics Canada...
March 15, 2018: Annals of Work Exposures and Health
https://www.readbyqxmd.com/read/29549082/patient-characteristics-associated-with-severe-hypoglycemia-in-a-type-2-diabetes-cohort-in-a-large-integrated-health-care-system-from-2006-to-2015
#11
Anita D Misra-Hebert, Kevin M Pantalone, Xinge Ji, Alex Milinovich, Tanujit Dey, Kevin M Chagin, Janine M Bauman, Michael W Kattan, Robert S Zimmerman
OBJECTIVE: To identify severe hypoglycemia events, defined as emergency department visits or hospitalizations for hypoglycemia, in patients with type 2 diabetes receiving care in a large health system and to identify patient characteristics associated with severe hypoglycemia events. RESEARCH DESIGN AND METHODS: This was a retrospective cohort study from January 2006 to December 2015 using the electronic medical record in the Cleveland Clinic Health System (CCHS)...
June 2018: Diabetes Care
https://www.readbyqxmd.com/read/29548648/genetic-factors-in-sleep-disordered-breathing
#12
REVIEW
Kiminobu Tanizawa, Kazuo Chin
Sleep-disordered breathing (SDB) is characterized by repetitive episodes of decreased or arrested respiratory airflow during sleep. SDB is common and affects approximately 20% of the Japanese general population. Most traits of normal sleep and SDB show familial aggregation, suggesting significant effects of genetic factors. Obstructive sleep apnea (OSA) is the most common type of SDB and has a high heritability. Regardless of high heritability, no risk locus for OSA has reached a genome-wide level of significance (P < 5×10-8 ) in linkage or candidate gene analysis...
March 2018: Respiratory Investigation
https://www.readbyqxmd.com/read/29543228/congenital-heart-disease-and-aortic-arch-variants-associated-with-mutation-in-phox2b
#13
Rachel C Lombardo, Aleksey Porollo, James F Cnota, Robert J Hopkin
PurposeCongenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS.MethodsA retrospective review of patients with CCHS in conjunction with functional analysis of PHOX2B mutations associated with CHD was performed...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29534716/genetic-variation-in-clusterin-and-risk-of-dementia-and-ischemic-vascular-disease-in-the-general-population-cohort-studies-and-meta-analyses-of-362-338-individuals
#14
Liv Tybjærg Nordestgaard, Anne Tybjærg-Hansen, Katrine Laura Rasmussen, Børge G Nordestgaard, Ruth Frikke-Schmidt
BACKGROUND: Clusterin, also known as apolipoprotein J (apoJ), is one of the most abundantly expressed apolipoproteins in the brain after apolipoprotein E (apoE). Like the ε4 allele of the apolipoprotein E gene (APOE), the clusterin gene (CLU) is a risk locus for Alzheimer's disease, and may play additional roles in atherosclerosis pathogenesis. We tested whether genetic variation in CLU was associated with either Alzheimer's disease or atherosclerosis-related diseases. METHODS: We studied individual data on 103,987 participants from the Copenhagen General Population Study (CGPS) and the Copenhagen City Heart Study (CCHS)...
March 14, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29531718/congenital-central-hypoventilation-syndrome-mimicking-mitochondrial-disease
#15
Kitiwan Rojnueangnit, Maria Descartes
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.
March 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29530010/the-fundamental-association-between-mental-health-and-life-satisfaction-results-from-successive-waves-of-a-canadian-national-survey
#16
Patrick Lombardo, Wayne Jones, Liangliang Wang, Xin Shen, Elliot M Goldner
BACKGROUND: A self-reported life satisfaction question is routinely used as an indicator of societal well-being. Several studies support that mental illness is an important determinant for life satisfaction and improvement of mental healthcare access therefore could have beneficial effects on a population's life satisfaction. However, only a few studies report the relationship between subjective mental health and life satisfaction. Subjective mental health is a broader concept than the presence or absence of psychopathology...
March 12, 2018: BMC Public Health
https://www.readbyqxmd.com/read/29486608/congenital-central-hypoventilation-syndrome-diagnosis-and-management
#17
Melissa A Maloney, Sheila S Kun, Thomas G Keens, Iris A Perez
Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene. Affected individuals demonstrate absent or diminished physiologic response to hypercapnia and hypoxia that is most severe during sleep as well as multi-system dysregulation of autonomic functions. Areas covered: In this review, we will discuss how evaluation of the disease-defining PHOX2B gene aids diagnosis and helps prognosticate disease severity, review disease physiology, describe clinical presentation and various aspects of autonomic nervous system dysregulation, review ventilatory strategies, and highlight current challenges in the care of these complex patients...
April 2018: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/29407853/the-relationship-between-child-protection-contact-and-mental-health-outcomes-among-canadian-adults-with-a-child-abuse-history
#18
Tracie O Afifi, Jill McTavish, Sarah Turner, Harriet L MacMillan, C Nadine Wathen
Despite being a primary response to child abuse, it is currently unknown whether contact with child protection services (CPS) does more good than harm. The aim of the current study was to examine whether contact with CPS is associated with improved mental health outcomes among adult respondents who reported experiencing child abuse, after adjusting for sociodemographic factors and abuse severity. The data were drawn from the 2012 Canadian Community Health Survey-Mental Health (CCHS-2012), which used a multistage stratified cluster design (household-level response rate = 79...
May 2018: Child Abuse & Neglect
https://www.readbyqxmd.com/read/29351818/obstructive-sleep-apnea-in-patients-with-congenital-central-hypoventilation-syndrome-ventilated-by-diaphragm-pacing-without-tracheostomy
#19
Annie Wang, Sheila Kun, Bonnie Diep, Sally L Davidson Ward, Thomas G Keens, Iris A Perez
STUDY OBJECTIVES: To determine presence of obstructive sleep apnea (OSA) in patients with congenital central hypoventilation syndrome (CCHS) ventilated by diaphragm pacing (DP) without tracheostomy, and to determine if OSA can be improved by DP setting changes. METHODS: We reviewed polysomnography (PSG) results of 15 patients with CCHS from October 2001 to April 2014, age 15.4 ± 7.8 years, body mass index 22.0 ± 6.0 kg/m2 , and 60% female. RESULTS: Of the 22 PSG results obtained for the 15 patients with CCHS, 9 were performed with tracheostomy capped, and 13 were performed after patients underwent decannulation...
February 15, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/29327497/congenital-central-hypoventilation-syndrome-broader-cognitive-deficits-revealed-by-parent-controls
#20
Frank A Zelko, Tracey M Stewart, Cindy D Brogadir, Casey M Rand, Debra E Weese-Mayer
OBJECTIVE: To investigate neurocognitive deficits in children with Congenital Central Hypoventilation Syndrome (CCHS) by comparing them to their parents, since parents comprise a particularly suitable control group matched on disease-extrinsic factors that can influence neurocognitive functioning. We compared CCHS patients to their parents and to population norms, hypothesizing that they would obtain lower intelligence test scores than both groups. We also compared patient-parent differences against patient-normative differences, to determine whether the two analytic approaches would yield different results...
April 2018: Pediatric Pulmonology
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