X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism(HH)at puberty,arising from mutations of the n...X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism(HH)at puberty,arising from mutations of the nuclear receptor subfamily 0 group B member 1(NR0B1)gene.This study investigated an extended family with two affected males(patient A:23 years and patient B:2 months old)and three carrier females.Sequencing analysis of the NR0B1 gene coding region from the family revealed a novel hemizygous deletion[c.604delT;p.(C202Afs*62)]in the two male patients.Furthermore,the patients'respective mothers and their common grandmother had this heterozygous mutation,but it was not present in the Human Gene Mutation Database.The two male patients showed inconsistent clinical features at onset,particularly in early childhood;however,it is possible that the younger patient will eventually show a delay of puberty,feminisation,and nonspermatogenesis in adulthood,similar to that in the older patient.Identification of a novel NR0BI mutation in this family is important for the diagnosis and genetic counselling of children with primary adrenal insufficiency and HH,and will be helpful for predicting long-term clinical symptoms.展开更多
As for several nuclear reactions, the electroweak interaction is simply explained by a law of conservation of particle number. We find that the positron and electron consist of the three fundamental particles, and , r...As for several nuclear reactions, the electroweak interaction is simply explained by a law of conservation of particle number. We find that the positron and electron consist of the three fundamental particles, and , respectively. Furthermore, the members of the second and third generations quark composites consist of the first generation quark and the neutrino of fundamental particles. The particle and its anti- particle pair(or neutrino and its antineutrino pair) have to be an energy quantum (or a photon). The minimum Higgs boson (called “God particle”) might be a neutral pion. The fundamental particles are simply up and down quark, neutrino, muon-neutrino, and those anti-particles.展开更多
基金the Jin Lei Pediatric Endocrinology Growth Research Fund for Young Physicians(No.PEGRF201607001).
文摘X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism(HH)at puberty,arising from mutations of the nuclear receptor subfamily 0 group B member 1(NR0B1)gene.This study investigated an extended family with two affected males(patient A:23 years and patient B:2 months old)and three carrier females.Sequencing analysis of the NR0B1 gene coding region from the family revealed a novel hemizygous deletion[c.604delT;p.(C202Afs*62)]in the two male patients.Furthermore,the patients'respective mothers and their common grandmother had this heterozygous mutation,but it was not present in the Human Gene Mutation Database.The two male patients showed inconsistent clinical features at onset,particularly in early childhood;however,it is possible that the younger patient will eventually show a delay of puberty,feminisation,and nonspermatogenesis in adulthood,similar to that in the older patient.Identification of a novel NR0BI mutation in this family is important for the diagnosis and genetic counselling of children with primary adrenal insufficiency and HH,and will be helpful for predicting long-term clinical symptoms.
文摘As for several nuclear reactions, the electroweak interaction is simply explained by a law of conservation of particle number. We find that the positron and electron consist of the three fundamental particles, and , respectively. Furthermore, the members of the second and third generations quark composites consist of the first generation quark and the neutrino of fundamental particles. The particle and its anti- particle pair(or neutrino and its antineutrino pair) have to be an energy quantum (or a photon). The minimum Higgs boson (called “God particle”) might be a neutral pion. The fundamental particles are simply up and down quark, neutrino, muon-neutrino, and those anti-particles.
