Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A relationship between neurovegetative symptoms and an increased risk of sudden infant death (SID) has been frequently described. Such symptoms are vomiting because of gastroesophageal reflux, breathing disorders while nutritive sucking, excessive sweating during sleep, prolonged apneas and apneas with associated symptoms, further unexplained episodes of cyanosis, pallor and loss of muscle tone. An acute decompensation of the cardiorespiratory autonomic system during sleep is currently discussed to be one of the causes of SID. Polysomnographic investigations are used to diagnose sleep related cardiorespiratory autonomic dysfunction. In this study, infants up to the age of 5 months were examined using polysomnography throughout their entire nocturnal sleep. The findings from 79 infants with neurovegetative symptoms were compared with the results from 163 healthy control children. Indications of an impaired respiratory regulation during sleep were shown to be significantly more frequent in infants with neurovegetative symptoms. In particular the occurrence of periodic breathing with a high frequency of periodic apnea plus a large number of acute decreases in oxygen saturation could be shown in infants with neurovegetative symptoms. The findings were most pronounced during the first 1.5 months after birth. The results of this investigations lead to the conclusion that, in the case of young infants with breathing abnormalities, neurovegetative symptoms can frequently be observed. The occurrence of such symptoms should therefore be a reason for a polysomnographic examination.
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PMID:[Neurovegetative symptoms in infants with sleep-related respiratory disorders]. 919 72

The hereditary sensory and autonomic neuropathies (HSAN) encompass a number of inherited disorders that are associated with sensory dysfunction (depressed reflexes, altered pain and temperature perception) and varying degrees of autonomic dysfunction (gastroesophageal reflux, postural hypotention, excessive sweating). Subsequent to the numerical classification of four distinct forms of HSAN that was proposed by Dyck and Ohta, additional entities continue to be described, so that identification and classification are ongoing. As a group, the HSAN are rare diseases that affect both sexes. HSAN III is almost exclusive to individuals of Eastern European Jewish extraction, with incidence of 1 per 3600 live births. Several hundred cases with HSAN IV have been reported. The worldwide prevalence of HSAN type II is very low. This review focuses on the description of three of the disorders, HSAN II through IV, that are characterized by autosomal recessive inheritance and onset at birth. These three forms of HSAN have been the most intensively studied, especially familial dysautonomia (Riley-Day syndrome or HSAN III), which is often used as a prototype for comparison to the other HSAN. Each HSAN disorder is likely caused by different genetic errors that affect specific aspects of small fiber neurodevelopment, which result in variable phenotypic expression. As genetic tests are routinely used for diagnostic confirmation of HSAN III only, other means of differentiating between the disorders is necessary. Diagnosis is based on the clinical features, the degree of both sensory and autonomic dysfunction, and biochemical evaluations, with pathologic examinations serving to further confirm differences. Treatments for all these disorders are supportive.
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PMID:Hereditary sensory and autonomic neuropathies: types II, III, and IV. 1791 6