Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a prospective study, 180 infants, mean age 2-6 months, hospitalized for apparent life threatening events between October 1985 and September 1988 (for 7,261 infants admitted into the pediatric unit during the same period), were submitted to the following investigations: careful anamnesis, complete clinical examination, systematic paraclinical investigations (standard biological studies, infectious and metabolic tests, investigations for gastro esophageal reflux (GER) and vagal hyper-reflectivity (VHR), polysomnography) or adapted to the clinical situation (toxic tests, brain computed scan, laryngoscopy, etc). Pathologies were mainly functional with neuro-vegetative immaturity (67.5%): gastro esophageal reflux (49%), vagal hyper-reflectivity (8.5%) or both (10%). An incidental pathological factor (breath holding spell, convulsion, intoxication, infection) was found in 18.5% of the infants, and 14% had normal results. Diphemanil 10 mg/kg/24h corrected the VHR and Metoclopramide 1 mg/kg/24h controlled 52% of the GER. The recurrence rate of illness in the GER and VHR groups was statistically lower with efficient therapy (12% vs 48%); no recurrence occurred in other groups.
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PMID:[Study of risk factors for recurrence in severe life-threatening conditions in infants]. 839 95

Autonomic activity and respiration were studied in Rett syndrome (RS) and age matched controls. Breathing movements were monitored using a pletysmograph around the chest. Sympathetic activity was monitored by measuring blood pressure (BP) using the Finapres. Cardiac parasympathetic activity was monitored by measuring the cardiac response to baroreflex using the NeuroScope which outputs measure of cardiac vagal tone (CVT) in units of a linear vagal scale (LVS). Resting CVT (means +/- SEM) was 10.5 +/- 0.9 units in the LVS and BP was 94.6 +/- 6.4 mmHg in controls. The BP was 78 +/- 4.33 mmHg and CVT was 3.6 +/- 0.7 units in the LVS in girls with RS, 65% lower than in their age matched controls (p < 0.001), but equal to previously reported level in neonates. Each girl with RS had at least 6 types of breathing dysrhythmias, a sign of instability of the respiratory oscillator. The sympathetic system controlled the HR and BP smoothly during breath holding in control girls, but there were oscillations and rebounds in RS. The HR and BP were under parasympathetic influence during hyperventilation in normal girls but not in RS. The CVT was invariably withdrawn at the height of sympathetic activity during both hyperventilation and breath holding in RS, leading to sympathovagal imbalance with the risk of cardiac arrhythmias and possibly sudden death. Neonatal level of CVT, poor autonomic integration and multiple breathing dysrhythmias shows medullary immaturity in RS. It is the first demonstration of immaturity of the brain which could be used for screening in early childhood and potentially useful for diagnosis and management of RS.
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PMID:Functional evidence of brain stem immaturity in Rett syndrome. 945 20

Sudden infant death syndrome (SIDS) is an unexplained death in infants, which usually occurs during sleep. The cause of SIDS remains unknown and multifactorial. In this regard, the diving reflex (DR), a peripheral subtype of trigeminocardiac reflex (TCR), is also hypothesized as one of the possible mechanisms for this condition. The TCR is a well-established neurogenic reflex that manifests as bradycardia, hypotension, apnea, and gastric hypermotility. The TCR shares many similarities with the DR, which is a significant physiological adaptation to withstand hypoxia during apnea in many animal species including humans in clinical manifestation and mechanism of action. The DR is characterized by breath holding (apnea), bradycardia, and vasoconstriction, leading to increase in blood pressure. Several studies have described congenital anomalies of autonomic nervous system in the pathogenesis of SIDS such as hypoplasia, delayed neuronal maturation, or decreased neuronal density of arcuate nucleus, hypoplasia, and neuronal immaturity of the hypoglossal nucleus. The abnormalities of autonomic nervous system in SIDS may explain the role of TCR in this syndrome involving sympathetic and parasympathetic nervous system. We reviewed the available literature to identify the role of TCR in the etiopathogenesis of SIDS and the pathways and cellular mechanism involved in it. This synthesis will help to update our knowledge and improve our understanding about this mysterious, yet common condition and will open the door for further research in this field.
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PMID:Sudden Infant Death Syndrome - Role of Trigeminocardiac Reflex: A Review. 2799 73