In generalized arterial calcification of infancy(OMIM no.208000),calcificat ion of the media and proliferation of the intima lead to arterial stenoses.Most affected patients present with untreatable arterial hypertens...In generalized arterial calcification of infancy(OMIM no.208000),calcificat ion of the media and proliferation of the intima lead to arterial stenoses.Most affected patients present with untreatable arterial hypertension and die within the first months of life.The disease has recently been linked to mutations in ENPP1.We report two siblings with prolonged survival,both of whom carry the co mpound heterozygous ENPP1 mutations C.913C > A and c.1164+2T > A.In both sibli ngs,spontaneous regression of arterial calcifications occurred,and antihyperte nsive treatment could be tapered off gradually.In some patients,the natural co urse of GACI may be more favourable than previously assumed.展开更多
The importance of olfaction for newborns,especially for mother-associated odors is well known.Olfactory receptor neurons were found in preterm infants as early as 24–27 weeks of gestation[1].Therefore,it can be assum...The importance of olfaction for newborns,especially for mother-associated odors is well known.Olfactory receptor neurons were found in preterm infants as early as 24–27 weeks of gestation[1].Therefore,it can be assumed that the olfactory sense is functioning in preterm infants[2],but only very little is known about olfactory processing at this age.Most studies dealing with the processing of olfactory stimuli have been conducted on mature infants.However,in 2001 a research group demonstrated,using near-infrared spectroscopy,that a change in blood oxygenation of premature infants could be detected in the orbitofrontal cortex after olfactory stimulation with disinfectant and detergent[3].Electroencephalogram(EEG)techniques have broadly been used to measure central odor processing in adults and children[4,5,6].展开更多
文摘In generalized arterial calcification of infancy(OMIM no.208000),calcificat ion of the media and proliferation of the intima lead to arterial stenoses.Most affected patients present with untreatable arterial hypertension and die within the first months of life.The disease has recently been linked to mutations in ENPP1.We report two siblings with prolonged survival,both of whom carry the co mpound heterozygous ENPP1 mutations C.913C > A and c.1164+2T > A.In both sibli ngs,spontaneous regression of arterial calcifications occurred,and antihyperte nsive treatment could be tapered off gradually.In some patients,the natural co urse of GACI may be more favourable than previously assumed.
文摘The importance of olfaction for newborns,especially for mother-associated odors is well known.Olfactory receptor neurons were found in preterm infants as early as 24–27 weeks of gestation[1].Therefore,it can be assumed that the olfactory sense is functioning in preterm infants[2],but only very little is known about olfactory processing at this age.Most studies dealing with the processing of olfactory stimuli have been conducted on mature infants.However,in 2001 a research group demonstrated,using near-infrared spectroscopy,that a change in blood oxygenation of premature infants could be detected in the orbitofrontal cortex after olfactory stimulation with disinfectant and detergent[3].Electroencephalogram(EEG)techniques have broadly been used to measure central odor processing in adults and children[4,5,6].
