Journal ArticleDOI
Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate.
Gabriel G. Haddad,Norman M Mazza,Richard Defendini,William A. Blanc,John M. Driscoll,M. A. Epstein,Ralph A. Epstein,Robert B. Mellins +7 more
TLDR
It is postulate that a developmental abnormality in serotonergic neurons is responsible for this new syndrome, and minute ventilation was lower in quiet than in REM sleep and lower in both states of sleep than in wakefulness.About:
This article is published in Medicine.The article was published on 1978-11-01. It has received 263 citations till now. The article focuses on the topics: Breathing & Hypoventilation.read more
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Hirschsprung disease, associated syndromes and genetics: a review
Jeanne Amiel,Stanislas Lyonnet +1 more
TL;DR: Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment, which stands as a model for genetic disorders with complex patterns of inheritance.
Journal ArticleDOI
False suffocation alarms, spontaneous panics, and related conditions. An integrative hypothesis.
TL;DR: The phenomena of panic during relaxation and sleep, late luteal phase dysphoric disorder, pregnancy, childbirth, pulmonary disease, separation anxiety, and treatment are used to test and illuminate the suffocation false alarm theory.
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Sleep-disordered breathing in children.
TL;DR: Advances in diagnosis and management can alleviate much of the morbidity previously associated with sleep-related respiratory disorders, including obstructive sleep apnea syndrome.
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An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management
Debra E. Weese-Mayer,Elizabeth Berry-Kravis,Isabella Ceccherini,Thomas G. Keens,Darius A. Loghmanee,Ha Trang +5 more
TL;DR: The importance of PHOX2B testing in diagnosing and treating patients with CCHS is demonstrated and a review of pertinent literature allowed for the development of a document that summarizes recent advances in understanding CCHs and expert interpretation of the evidence for management of affected patients.
Journal ArticleDOI
Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b
Debra E. Weese-Mayer,Elizabeth Berry-Kravis,Lili Zhou,Brion S. Maher,Jean M. Silvestri,Mark E. Curran,Mary L. Marazita +6 more
TL;DR: Genes pertinent to early embryologic development of the ANS including mammalian achaete‐scute homolog‐1 (MASH1), bone morphogenic protein‐2 (BMP2), engrailed‐1(EN1), TLX3, endothelin converting enzyme‐ 1 (ECE1), endothelins‐1 ('EDN1), PHOX2a, andPHOX2b are studied in 67 probands with CCHS, and gender‐