The objective of this paper is to analyze the relationship among the interrelated gene sequences of Alzheimer’s disease (AD). Further this paper will provide a study on genetic factor of the occurrence about Alzheime...The objective of this paper is to analyze the relationship among the interrelated gene sequences of Alzheimer’s disease (AD). Further this paper will provide a study on genetic factor of the occurrence about Alzheimer’s disease, so as to provide more information on the prevention of Alzheimer’s disease, the clinical diagnosis and gene therapy for Alzheimer’s disease. The respective alignment of the Alzheimer’s disease interrelated gene sequences with those in The National Center for Biotechnology Information (NCBI) database was studied, and the measurement relationship of these sequences was identified and analyzed by the method of fuzzy cluster. The result of fuzzy cluster analysis indicates that the gene sequences interrelated within one group is consistently having closer relationship within the group other than in another group.展开更多
Neural tube defects （NTDs） are a group of birth anomalies having a profound physical, emotional, and financial effects on families and communities. Their etiology is complex, involving environmental and genetic fact...Neural tube defects （NTDs） are a group of birth anomalies having a profound physical, emotional, and financial effects on families and communities. Their etiology is complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype. The planar cell polarity （PCP） pathway controls the process of convergent extension （CE） during gastrulation and neural tube closure and has been implicated in the pathogenesis of NTDs in animal models and human cohorts. This review summarizes the cumulative results of recent studies on PCP signaling pathway and human NTDs. These results demonstrate that PCP gene alterations contribute to the etiology of human NTDs.展开更多
Though rare,angiomyolipomas(AMLs)are the most common mesenchymal tumors of kidney.In general,AMLs can always be associated with two conditions affecting other organ systems:tuberous sclero-sis complex(TSC)and sporadic...Though rare,angiomyolipomas(AMLs)are the most common mesenchymal tumors of kidney.In general,AMLs can always be associated with two conditions affecting other organ systems:tuberous sclero-sis complex(TSC)and sporadic lymphangioleiomyoma-tosis.This article presents a case of renal AML occurring in a 14-year-old girl with a definite diagnosis of TSC.She had been diagnosed with TSC at the age of three,and a schedule for close observation was disobeyed.At this time,she underwent a series of examinations:physical examina-tion,ultrasonography,angiography,computed tomography(CT),and magnetic resonance imaging(MRI)scans.The physical examination showed adenoma sebaceum in a butterfly paranasal distribution,and a mass was palpated in the left upper quadrant.There were no neurological deficits.Imaging studies(including ultrasonography,angiography,CT,and MRI)of the abdomen showed a large heterogeneous mass arising from the left kidney.Partial nephrectomy was performed.The pathological diagnosis was hemorrhagic renal AML.No recurrence was found in the three-year follow-up.We concluded that schedule of close observation on patients with TSC should be strictly abided by for the high morbidity of AMLs.The specific risks of renal AMLs are spontaneous hemorrhage and rupture.Treatment options for AMLs include conservative and interventional(total/partial nephrectomy,cryoptherapy,and embolization)treatments.展开更多
文摘The objective of this paper is to analyze the relationship among the interrelated gene sequences of Alzheimer’s disease (AD). Further this paper will provide a study on genetic factor of the occurrence about Alzheimer’s disease, so as to provide more information on the prevention of Alzheimer’s disease, the clinical diagnosis and gene therapy for Alzheimer’s disease. The respective alignment of the Alzheimer’s disease interrelated gene sequences with those in The National Center for Biotechnology Information (NCBI) database was studied, and the measurement relationship of these sequences was identified and analyzed by the method of fuzzy cluster. The result of fuzzy cluster analysis indicates that the gene sequences interrelated within one group is consistently having closer relationship within the group other than in another group.
文摘Neural tube defects （NTDs） are a group of birth anomalies having a profound physical, emotional, and financial effects on families and communities. Their etiology is complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype. The planar cell polarity （PCP） pathway controls the process of convergent extension （CE） during gastrulation and neural tube closure and has been implicated in the pathogenesis of NTDs in animal models and human cohorts. This review summarizes the cumulative results of recent studies on PCP signaling pathway and human NTDs. These results demonstrate that PCP gene alterations contribute to the etiology of human NTDs.
文摘Though rare,angiomyolipomas(AMLs)are the most common mesenchymal tumors of kidney.In general,AMLs can always be associated with two conditions affecting other organ systems:tuberous sclero-sis complex(TSC)and sporadic lymphangioleiomyoma-tosis.This article presents a case of renal AML occurring in a 14-year-old girl with a definite diagnosis of TSC.She had been diagnosed with TSC at the age of three,and a schedule for close observation was disobeyed.At this time,she underwent a series of examinations:physical examina-tion,ultrasonography,angiography,computed tomography(CT),and magnetic resonance imaging(MRI)scans.The physical examination showed adenoma sebaceum in a butterfly paranasal distribution,and a mass was palpated in the left upper quadrant.There were no neurological deficits.Imaging studies(including ultrasonography,angiography,CT,and MRI)of the abdomen showed a large heterogeneous mass arising from the left kidney.Partial nephrectomy was performed.The pathological diagnosis was hemorrhagic renal AML.No recurrence was found in the three-year follow-up.We concluded that schedule of close observation on patients with TSC should be strictly abided by for the high morbidity of AMLs.The specific risks of renal AMLs are spontaneous hemorrhage and rupture.Treatment options for AMLs include conservative and interventional(total/partial nephrectomy,cryoptherapy,and embolization)treatments.
