Journal ArticleDOI
Sleep apnea and hypoventilation syndrome associated with acquired nonprogressive dysautonomia: Clinical and pathological studies in a child
Yitzchak Frank,Richard E. Kravath,Kiyoharu Inoue,Asao Hirano,Charles P. Pollak,Roger N. Rosenberg,Elliot D. Weitzman +6 more
TLDR
A 6‐year‐old girl who had subacute onset of hypoventilation and apnea during sleep and died two years later during sleep had a ganglioneuroma originating in the sympathetic ganglia, and all‐night polysomnographic studies revealed frequent obstructive and central sleep apnea episodes.Abstract:
A 6-year-old girl had subacute onset of hypoventilation and apnea during sleep. Diffuse dysautonomic changes were identified, including dilated, nonreactive pupils, decreased tearing and sweating, and abnormal temperature and cardiovascular control. All-night polysomnographic studies revealed frequent obstructive and central sleep apnea episodes. Her serum contained cytotoxic antineuroblastoma immunoglobulins. She died two years later during sleep. The general pathological examination revealed a ganglioneuroma originating in the sympathetic ganglia. Abnormalities in the brain were confined to the brainstem and consisted of complete loss of neurons with severe fibrillary gliosis in the region of the Edinger-Westphal nuclei as well as loss of neurons with gliosis in the locus ceruleus and in the reticular formation bilaterally.read more
Citations
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Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood
Diego Ize-Ludlow,Juliette Gray,Mark A. Sperling,Elizabeth Berry-Kravis,Jeff M. Milunsky,I. Sadaf Farooqi,Casey M. Rand,Debra E. Weese-Mayer +7 more
TL;DR: Positive PHOX2B sequencing results demonstrate that this entity is distinct from congenital central hypoventilation syndrome, and provides a comprehensive description of the clinical spectrum of rapid-onset obesity with hypothalamic dysfunction, hypventilation, and autonomic dysregulation.
Journal ArticleDOI
Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome.
TL;DR: At least 10 case reports of idiopathic LO‐CHS featured evidence of hypothalamic dysfunction (HD), including hyperphagia, hypersomnolence, thermal dysregulation, emotional lability, and endocrinopathies.
Journal ArticleDOI
Endocrine Manifestations of the Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neural Tumor Syndrome in Childhood
TL;DR: Various hypothalamic-pituitary endocrine dysfunctions are associated with ROHHADNET, carrying a risk of misdiagnosis until other elements of the syndrome make it more easily recognizable.
Journal ArticleDOI
The role of upper airway anatomy and physiology in obstructive sleep apnea.
TL;DR: Through a better understanding of the pathophysiology of OSA, better treatment modalities should be developed, resulting in improved quality of life for OSA patients.
Journal ArticleDOI
Chronobiology and chronotherapy in medicine
Monica Kraft,Richard J. Martin +1 more
TL;DR: All biologic functions, from those of the cell, the tissue, the organs, and the entire body, run on a cycle of altering activity and function, which explains why most of us state that "I am not a morning person."
References
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Journal ArticleDOI
A neurological syndrome associated with orthostatic hypotension: a clinical-pathologic study.
G M Shy,G A Drager +1 more
TL;DR: Patients with idiopathic orthostatic hypotension may show wide swings in blood pressure, but do not have the pulse changes or symptoms, such as yawning, nausea, or increased sweating, associated with other types of syncope in which the nervous system is intact.
Journal ArticleDOI
Observations on the respiratory centres in the cat.
TL;DR: A thin but rather blunt chisel was inserted just behind the tentozium, and pushed rapidly but gently downwards to the base of the skull, so that the brain stem was severed but the basilar artery remained intact; thus internal
Journal ArticleDOI
The lateral respiratory neurones of the medulla: their associations with nucleus ambiguus, nucleus retroambigualis, the spinal accessory nucleus and the spinal cord.
TL;DR: The lateral respiratory neurones are concentrated in a longitudinal column which extends from C 1 to beyond the obex, perhaps as far rostrally as the entry of the vagal rootlets, which has been identified as nucleus retroambigualis (NRA) of Olszewski and Baxter 37.