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
Let T=RM NS (θ,φ) and θ=0. We use a complete different technique to obtain the generalize results for K 0(T), i.e., K 0(T/I)K 0(R)K 0(S/NM) and K 0(T/J(T)) K 0(R/J(R))K(S/J(S)).
For a repairable redundant system consisting of two same components with exponential lifetime and general repair time distribution, the probability densities of the system in some state at time t were determined b...For a repairable redundant system consisting of two same components with exponential lifetime and general repair time distribution, the probability densities of the system in some state at time t were determined by a group of ordinary and partial differential equations, called density evolution equations. It was proved that the time dependent solution of the density evolution equations uniquely exists and strongly converges to its steady state density solution by a semi group method. In this proof, it is not necessary to suppose that the repair rate function is bounded. The technique of the proof is valuable for many density evolution equations.展开更多
While the formulations of localization rank and stably free rank are given, the characterizations of elements are obtained for a class of VN regular ring. For a ring R, the characters of some properties of K0R are als...While the formulations of localization rank and stably free rank are given, the characterizations of elements are obtained for a class of VN regular ring. For a ring R, the characters of some properties of K0R are also given in terms of the state space of K0.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Let T=RM NS (θ,φ) and θ=0. We use a complete different technique to obtain the generalize results for K 0(T), i.e., K 0(T/I)K 0(R)K 0(S/NM) and K 0(T/J(T)) K 0(R/J(R))K(S/J(S)).
文摘For a repairable redundant system consisting of two same components with exponential lifetime and general repair time distribution, the probability densities of the system in some state at time t were determined by a group of ordinary and partial differential equations, called density evolution equations. It was proved that the time dependent solution of the density evolution equations uniquely exists and strongly converges to its steady state density solution by a semi group method. In this proof, it is not necessary to suppose that the repair rate function is bounded. The technique of the proof is valuable for many density evolution equations.
基金This work was partially supported by the National Natural Science Foundation of China (Grant No. 19901009) NSF of Guangdong Province (Grant Nos. 970472, 000463).
文摘While the formulations of localization rank and stably free rank are given, the characterizations of elements are obtained for a class of VN regular ring. For a ring R, the characters of some properties of K0R are also given in terms of the state space of K0.
