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  1. Article ; Online: The privilege and responsibility of caring for patients with rare genetic disorders.

    Weese-Mayer, Debra E

    Clinical autonomic research : official journal of the Clinical Autonomic Research Society

    2021  Volume 31, Issue 1, Page(s) 55–56

    MeSH term(s) Humans ; Patient Care ; Rare Diseases/genetics
    Language English
    Publishing date 2021-02-12
    Publishing country Germany
    Document type Editorial ; Comment
    ZDB-ID 1080007-4
    ISSN 1619-1560 ; 0959-9851
    ISSN (online) 1619-1560
    ISSN 0959-9851
    DOI 10.1007/s10286-021-00777-7
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    Zs.A 3270: Show issues Location:
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  2. Article ; Online: Apparently rare cases are worth studying because….

    Weese-Mayer, Debra E / Rand, Casey M

    Clinical autonomic research : official journal of the Clinical Autonomic Research Society

    2023  Volume 33, Issue 3, Page(s) 209–210

    MeSH term(s) Humans ; Obesity ; Autonomic Nervous System Diseases
    Language English
    Publishing date 2023-06-01
    Publishing country Germany
    Document type Editorial ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1080007-4
    ISSN 1619-1560 ; 0959-9851
    ISSN (online) 1619-1560
    ISSN 0959-9851
    DOI 10.1007/s10286-023-00956-8
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  3. Article ; Online: The future of rare autonomic disease research.

    Rand, Casey M / Weese-Mayer, Debra E

    Clinical autonomic research : official journal of the Clinical Autonomic Research Society

    2023  Volume 33, Issue 3, Page(s) 211–213

    MeSH term(s) Humans ; Autonomic Nervous System Diseases/diagnosis ; Obesity ; Autonomic Nervous System
    Language English
    Publishing date 2023-06-05
    Publishing country Germany
    Document type Editorial ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1080007-4
    ISSN 1619-1560 ; 0959-9851
    ISSN (online) 1619-1560
    ISSN 0959-9851
    DOI 10.1007/s10286-023-00957-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  4. Article: Developmental disorders affecting the respiratory system: CCHS and ROHHAD.

    Ceccherini, Isabella / Kurek, Kyle C / Weese-Mayer, Debra E

    Handbook of clinical neurology

    2022  Volume 189, Page(s) 53–91

    Abstract: Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) and Congenital Central Hypoventilation Syndrome (CCHS) are ultra-rare distinct clinical disorders with overlapping symptoms including altered ... ...

    Abstract Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) and Congenital Central Hypoventilation Syndrome (CCHS) are ultra-rare distinct clinical disorders with overlapping symptoms including altered respiratory control and autonomic regulation. Although both disorders have been considered for decades to be on the same spectrum with necessity of artificial ventilation as life-support, recent acquisition of specific knowledge concerning the genetic basis of CCHS coupled with an elusive etiology for ROHHAD have definitely established that the two disorders are different. CCHS is an autosomal dominant neurocristopathy characterized by alveolar hypoventilation resulting in hypoxemia/hypercarbia and features of autonomic nervous system dysregulation (ANSD), with presentation typically in the newborn period. It is caused by paired-like homeobox 2B (PHOX2B) variants, with known genotype-phenotype correlation but pathogenic mechanism(s) are yet unknown. ROHHAD is characterized by rapid weight gain, followed by hypothalamic dysfunction, then hypoventilation followed by ANSD, in seemingly normal children ages 1.5-7 years. Postmortem neuroanatomical studies, thorough clinical characterization, pathophysiological assessment, and extensive genetic inquiry have failed to identify a cause attributable to a traditional genetic basis, somatic mosaicism, epigenetic mechanism, environmental trigger, or other. To find the key to the ROHHAD pathogenesis and to improve its clinical management, in the present chapter, we have carefully compared CCHS and ROHHAD.
    MeSH term(s) Autonomic Nervous System Diseases ; Child ; Developmental Disabilities ; Endocrine System Diseases ; Humans ; Hypothalamic Diseases ; Hypoventilation/congenital ; Respiratory System ; Sleep Apnea, Central ; Syndrome ; Transcription Factors
    Chemical Substances Transcription Factors
    Language English
    Publishing date 2022-05-13
    Publishing country Netherlands
    Document type Journal Article ; Review
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-323-91532-8.00005-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Correction to: Cerebral cortical‑autonomic connectivity in newborns: a first step to determine the autonomic signatures with advancing age?

    Weese-Mayer, Debra E / Gonik, Renato

    Clinical autonomic research : official journal of the Clinical Autonomic Research Society

    2021  Volume 31, Issue 6, Page(s) 803

    Language English
    Publishing date 2021-06-16
    Publishing country Germany
    Document type Published Erratum
    ZDB-ID 1080007-4
    ISSN 1619-1560 ; 0959-9851
    ISSN (online) 1619-1560
    ISSN 0959-9851
    DOI 10.1007/s10286-021-00813-6
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  6. Article ; Online: Cerebral cortical-autonomic connectivity in newborns: a first step to determine the autonomic signatures with advancing age?

    Weese-Mayer, Debra E / Gonik, Renato

    Clinical autonomic research : official journal of the Clinical Autonomic Research Society

    2021  Volume 31, Issue 3, Page(s) 359–360

    MeSH term(s) Autonomic Nervous System ; Heart Rate ; Humans ; Infant, Newborn
    Language English
    Publishing date 2021-05-19
    Publishing country Germany
    Document type Editorial ; Comment
    ZDB-ID 1080007-4
    ISSN 1619-1560 ; 0959-9851
    ISSN (online) 1619-1560
    ISSN 0959-9851
    DOI 10.1007/s10286-021-00807-4
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  7. Article ; Online: A narrative review of the mechanisms and consequences of intermittent hypoxia and the role of advanced analytic techniques in pediatric autonomic disorders.

    Ramirez, Jan-Marino / Carroll, Michael S / Burgraff, Nicholas / Rand, Casey M / Weese-Mayer, Debra E

    Clinical autonomic research : official journal of the Clinical Autonomic Research Society

    2023  Volume 33, Issue 3, Page(s) 287–300

    Abstract: Disorders of autonomic functions are typically characterized by disturbances in multiple organ systems. These disturbances are often comorbidities of common and rare diseases, such as epilepsy, sleep apnea, Rett syndrome, congenital heart disease or ... ...

    Abstract Disorders of autonomic functions are typically characterized by disturbances in multiple organ systems. These disturbances are often comorbidities of common and rare diseases, such as epilepsy, sleep apnea, Rett syndrome, congenital heart disease or mitochondrial diseases. Characteristic of many autonomic disorders is the association with intermittent hypoxia and oxidative stress, which can cause or exaggerate a variety of other autonomic dysfunctions, making the treatment and management of these syndromes very complex. In this review we discuss the cellular mechanisms by which intermittent hypoxia can trigger a cascade of molecular, cellular and network events that result in the dysregulation of multiple organ systems. We also describe the importance of computational approaches, artificial intelligence and the analysis of big data to better characterize and recognize the interconnectedness of the various autonomic and non-autonomic symptoms. These techniques can lead to a better understanding of the progression of autonomic disorders, ultimately resulting in better care and management.
    MeSH term(s) Humans ; Child ; Artificial Intelligence ; Hypoxia ; Autonomic Nervous System ; Autonomic Nervous System Diseases/etiology ; Autonomic Nervous System Diseases/complications
    Language English
    Publishing date 2023-06-16
    Publishing country Germany
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural
    ZDB-ID 1080007-4
    ISSN 1619-1560 ; 0959-9851
    ISSN (online) 1619-1560
    ISSN 0959-9851
    DOI 10.1007/s10286-023-00958-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  8. Article: Autonomic Nervous System Dysfunction Is Associated With Re-hospitalization in Pediatric Septic Shock Survivors.

    Badke, Colleen M / Swigart, Lindsey / Carroll, Michael S / Weese-Mayer, Debra E / Sanchez-Pinto, L Nelson

    Frontiers in pediatrics

    2022  Volume 9, Page(s) 745844

    Abstract: Objective: ...

    Abstract Objective:
    Language English
    Publishing date 2022-01-04
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2021.745844
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  9. Article: Association Between Heart Rate Variability and Inflammatory Biomarkers in Critically Ill Children.

    Badke, Colleen M / Carroll, Michael S / Weese-Mayer, Debra E / Sanchez-Pinto, L Nelson

    Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies

    2022  Volume 23, Issue 6, Page(s) e289–e294

    Abstract: Objectives: The autonomic nervous system (ANS) can both modulate and be modulated by the inflammatory response during critical illness. We aimed to determine whether heart rate variability (HRV), a measure of ANS function, is associated with ... ...

    Abstract Objectives: The autonomic nervous system (ANS) can both modulate and be modulated by the inflammatory response during critical illness. We aimed to determine whether heart rate variability (HRV), a measure of ANS function, is associated with proinflammatory biomarker levels in critically ill children.
    Design: Two cohorts were analyzed. The first was a prospective observational cohort from August 2018 to August 2020 who had plasma proinflammatory cytokine measurements within 72 hours of admission, including tumor necrosis factor-α, interleukin (IL)-1β, IL-6, and IL-8. The second was a retrospective cohort from June 2012 to August 2020 who had at least one C-reactive protein (CRP) measurement within 72 hours of admission.
    Setting: Forty-six-bed PICU.
    Patients: Critically ill children in either cohort who had continuous heart rate data available from the bedside monitors.
    Interventions: None.
    Measurements and main results: Sixty-two patients were included in the prospective cohort and 599 patients in the retrospective cohort. HRV was measured using the age-adjusted integer heart rate variability (HRVi), which is the sd of the heart rate sampled every 1 second over 5 consecutive minutes. The median HRVi was measured in the 12-hour period ending 30 minutes prior to inflammatory biomarker collection. HRVi was inversely correlated with IL-6, IL-8, and CRP levels (p ≤ 0.02); correlation with IL-8 and CRP persisted after adjusting for Pediatric Risk of Mortality III and age, and median HR and age (p < 0.001).
    Conclusions: HRVi is inversely correlated with IL-6, IL-8, and CRP. Further studies are needed to validate this measure as a proxy for a proinflammatory state.
    MeSH term(s) Biomarkers ; Child ; Critical Illness ; Heart Rate/physiology ; Humans ; Interleukin-6 ; Interleukin-8 ; Prospective Studies ; Retrospective Studies
    Chemical Substances Biomarkers ; Interleukin-6 ; Interleukin-8
    Language English
    Publishing date 2022-03-16
    Publishing country United States
    Document type Journal Article ; Observational Study
    ZDB-ID 2052349-X
    ISSN 1947-3893 ; 1529-7535
    ISSN (online) 1947-3893
    ISSN 1529-7535
    DOI 10.1097/PCC.0000000000002936
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5600: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 472: Show issues

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  10. Article: Analysis and comparisons of gene expression changes in patient- derived neurons from ROHHAD, CCHS, and PWS.

    Victor, A Kaitlyn / Hedgecock, Tayler / Donaldson, Martin / Johnson, Daniel / Rand, Casey M / Weese-Mayer, Debra E / Reiter, Lawrence T

    Frontiers in pediatrics

    2023  Volume 11, Page(s) 1090084

    Abstract: Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is an ultra-rare neurocristopathy with no known genetic or environmental etiology. Rapid-onset obesity over a 3-12 month period ...

    Abstract Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is an ultra-rare neurocristopathy with no known genetic or environmental etiology. Rapid-onset obesity over a 3-12 month period with onset between ages 1.5-7 years of age is followed by an unfolding constellation of symptoms including severe hypoventilation that can lead to cardiorespiratory arrest in previously healthy children if not identified early and intervention provided. Congenital Central Hypoventilation syndrome (CCHS) and Prader-Willi syndrome (PWS) have overlapping clinical features with ROHHAD and known genetic etiologies. Here we compare patient neurons from three pediatric syndromes (ROHHAD, CCHS, and PWS) and neurotypical control subjects to identify molecular overlap that may explain the clinical similarities.
    Methods: Dental pulp stem cells (DPSC) from neurotypical control, ROHHAD, and CCHS subjects were differentiated into neuronal cultures for RNA sequencing (RNAseq). Differential expression analysis identified transcripts variably regulated in ROHHAD and CCHS vs. neurotypical control neurons. In addition, we used previously published PWS transcript data to compare both groups to PWS patient-derived DPSC neurons. Enrichment analysis was performed on RNAseq data and downstream protein expression analysis was performed using immunoblotting.
    Results: We identified three transcripts differentially regulated in all three syndromes vs. neurotypical control subjects. Gene ontology analysis on the ROHHAD dataset revealed enrichments in several molecular pathways that may contribute to disease pathology. Importantly, we found 58 transcripts differentially expressed in both ROHHAD and CCHS patient neurons vs. control neurons. Finally, we validated transcript level changes in expression of
    Conclusions: The molecular overlap between CCHS and ROHHAD neurons suggests that the clinical phenotypes in these syndromes likely arise from or affect similar transcriptional pathways. Further, gene ontology analysis identified enrichments in ATPase transmembrane transporters, acetylglucosaminyltransferases, and phagocytic vesicle membrane proteins that may contribute to the ROHHAD phenotype. Finally, our data imply that the rapid-onset obesity seen in both ROHHAD and PWS likely arise from different molecular mechanisms. The data presented here describes important preliminary findings that warrant further validation.
    Language English
    Publishing date 2023-05-10
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2023.1090084
    Database MEDical Literature Analysis and Retrieval System OnLINE

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