Search Results - "Rand, Casey M"
-
1
The future of rare autonomic disease research
Published in Clinical autonomic research (01-06-2023)Get full text
Journal Article -
2
ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison
Published in Orphanet journal of rare diseases (20-07-2018)“…Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric…”
Get full text
Journal Article -
3
Analysis and comparisons of gene expression changes in patient- derived neurons from ROHHAD, CCHS, and PWS
Published in Frontiers in pediatrics (10-05-2023)“…Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is an ultra-rare neurocristopathy with no…”
Get full text
Journal Article -
4
Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine
Published in Pediatric pulmonology (01-06-2009)“…The modern story of CCHS began in 1970 with the first description by Mellins et al., came most visibly to the public eye with the ATS Statement in 1999, and…”
Get full text
Journal Article -
5
Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): Kindred disorders of autonomic regulation
Published in Respiratory physiology & neurobiology (10-12-2008)“…Abstract Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS) were long considered rare disorders of respiratory control…”
Get full text
Journal Article -
6
Binodal, wireless epidermal electronic systems with in-sensor analytics for neonatal intensive care
Published in Science (American Association for the Advancement of Science) (01-03-2019)“…Existing vital sign monitoring systems in the neonatal intensive care unit (NICU) require multiple wires connected to rigid sensors with strongly adherent…”
Get full text
Journal Article -
7
A commentary on the importance of knowing from whence your PHOX2B mutation comes
Published in Journal of human genetics (01-06-2012)Get full text
Journal Article -
8
Congenital Central Hypoventilation Syndrome and Sudden Infant Death Syndrome: Disorders of Autonomic Regulation
Published in Seminars in pediatric neurology (01-03-2013)“…Long considered a rare and unique disorder of respiratory control, congenital central hypoventilation syndrome has recently been further distinguished as a…”
Get full text
Journal Article -
9
A wireless, skin-interfaced biosensor for cerebral hemodynamic monitoring in pediatric care
Published in Proceedings of the National Academy of Sciences - PNAS (15-12-2020)“…The standard of clinical care in many pediatric and neonatal neurocritical care units involves continuous monitoring of cerebral hemodynamics using hard-wired…”
Get full text
Journal Article -
10
Apparently rare cases are worth studying because
Published in Clinical autonomic research (01-06-2023)Get full text
Journal Article -
11
Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life
Published in Pediatric research (2017)“…The “bedside-to-bench” Congenital Central Hypoventilation Syndrome (CCHS) research journey has led to increased phenotypic-genotypic knowledge regarding…”
Get full text
Journal Article -
12
Ventilatory and Orthostatic Challenges Reveal Biomarkers for Neurocognition in Children and Young Adults With Congenital Central Hypoventilation Syndrome
Published in Chest (01-06-2023)“…Children and young adults with congenital central hypoventilation syndrome (CCHS) are at risk of cognitive deficits. They experience autonomic dysfunction and…”
Get full text
Journal Article -
13
Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype
Published in Pediatric research (01-06-2024)“…Background Congenital Central Hypoventilation Syndrome (CCHS) has devastating consequences if not diagnosed promptly. Despite identification of the…”
Get full text
Journal Article -
14
Cerebral Autoregulation during Orthostatic Challenge in Congenital Central Hypoventilation Syndrome
Published in American journal of respiratory and critical care medicine (01-02-2022)“…Congenital central hypoventilation syndrome (CCHS) is a rare autonomic disorder with altered regulation of breathing, heart rate (HR), and blood pressure (BP)…”
Get full text
Journal Article -
15
A narrative review of the mechanisms and consequences of intermittent hypoxia and the role of advanced analytic techniques in pediatric autonomic disorders
Published in Clinical autonomic research (01-06-2023)“…Disorders of autonomic functions are typically characterized by disturbances in multiple organ systems. These disturbances are often comorbidities of common…”
Get full text
Journal Article -
16
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)
Published in Genetics in medicine (01-09-2021)“…Purpose CCHS is an extremely rare congenital disorder requiring artificial ventilation as life support. Typically caused by heterozygous polyalanine repeat…”
Get full text
Journal Article -
17
Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers
Published in Diagnostic molecular pathology (01-12-2010)“…Clinical diagnostic testing for congenital central hypoventilation syndrome (CCHS) usually involves amplification and detection by (1) targeted mutation…”
Get more information
Journal Article -
18
Congenital Central Hypoventilation Syndrome: PHOX2B Mutations and Phenotype
Published in American journal of respiratory and critical care medicine (15-11-2006)“…Congenital central hypoventilation syndrome (CCHS), a unique disorder of respiratory control associated with Hirschsprung disease (HSCR) and tumors of neural…”
Get full text
Journal Article -
19
Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox
Published in Pediatric pulmonology (01-09-2022)“…Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy, caused by mutations in the paired‐like homeobox gene PHOX2B, which alters…”
Get full text
Journal Article -
20
Wireless, Skin‐Interfaced Devices for Pediatric Critical Care: Application to Continuous, Noninvasive Blood Pressure Monitoring
Published in Advanced healthcare materials (01-09-2021)“…Indwelling arterial lines, the clinical gold standard for continuous blood pressure (BP) monitoring in the pediatric intensive care unit (PICU), have…”
Get full text
Journal Article