MRI manifestations of central nervous system involvement in neonatal pigmentary incontinence / 实用放射学杂志

Objective To explore MRI features of incontinentia pigmenti(IP) in central nervous system (CNS) in newborn infants.Methods MRI and clinical data of 17 cases of IP which confirmed by clinic,skin biopsy or NEMO gene test were analyzed retrospectively.Results There were 17 cases with IP in this study.MRI abnormalities were found in 12 cases, among which 3 cases showed high signal intensity on T2WI and a reduced signal intensity on T1WI,and 9 cases showed normal signal intensity on traditional MRI.Multiple areas of restricted diffusion were found in 12 cases which showed asymmetric high signal intensity in bilateral cerebral cortex and subcortical area, basal ganglia,centrum semiovale and periventricular area on DWI.In addition,basal ganglia was involved in 4 cases,corpus callosum was involved in 5 cases, and thalamus was involved in 2 cases.Conclusion MRI of IP in CNS shows certain specific characteristics.DWI plays an important role in the early detection and prognosis of the disease.

Essential role of the iron-sulfur cluster binding domain of the primase regulatory subunit Pri2 in DNA replication initiation

DNA primase catalyzes de novo synthesis of a short RNA primer that is further extended by replicative DNA polymerases during initiation of DNA replication. The eukaryotic primase is a heterodimeric enzyme comprising a catalytic subunit Pri1 and a regulatory subunit Pri2. Pri2 is responsible for facilitating optimal RNA primer synthesis by Pri1 and mediating interaction between Pri1 and DNA polymerase α for transition from RNA synthesis to DNA elongation. All eukaryotic Pri2 proteins contain a conserved C-terminal iron-sulfur (Fe-S) cluster-binding domain that is critical for primase catalytic activity in vitro. Here we show that mutations at conserved cysteine ligands for the Pri2 Fe-S cluster markedly decrease the protein stability, thereby causing S phase arrest at the restrictive temperature. Furthermore, Pri2 cysteine mutants are defective in loading of the entire DNA pol α-primase complex onto early replication origins resulting in defective initiation. Importantly, assembly of the Fe-S cluster in Pri2 is impaired not only by mutations at the conserved cysteine ligands but also by increased oxidative stress in the sod1Δ mutant lacking the Cu/Zn superoxide dismutase. Together these findings highlight the critical role of Pri2's Fe-S cluster domain in replication initiation in vivo and suggest a molecular basis for how DNA replication can be influenced by changes in cellular redox state.

Does premotor connectivity on resting fMRI reflect stereotyped behavior in ASD children / 实用放射学杂志

Objective To probe the relationship between the connectivity of premotor area detected by resting state functional MRI and stereotyped behavior of ASD.Methods 39 children patients with ASD and 42 healthy controls with matched age,sex and IQ were recruited.All the 81 subjects performed scaling with behavior scale index and underwent resting-state fMRI scans.After the fMRI data precession,the premotors in left and right sides were selected as ROI seeds to perform functional connectivity.Results Compared with healthy controls,children patients showed significant increased connectivity between the left premotor area and posterior cingulate cortex,as well as decreased functional connectivity between the left premotor area and the left insula.In addition, a negative linear correlation was showed between the connectivity of the left premotor and the insula and the behavioral scores.Con-clusion Imbalanced premotor functional connectivity may be one possible mechanism of stereotyped behavior of ASD,representing an attention deficit and/or impaired sensory perception to the external salient stimuli.

Clinical study on treatment of bronchiolitis with theophylline / 中国小儿急救医学

Objective To explore whether theophylline has clinic effects of treatment on bronchiolitis in children. Methods 128 children with bronchiolitis in our hospital were divided into the experiment and the control at random, in the meantime, grouped into the severe and the mild according to their condition. The children in the control were used traditional methods. The children in the control were taken theophylline, as well as used traditional methods. All patients in our hospital were checked up pulmonary function, alkyladenine glycosylase in trachea secretion, serum interleukin 8, cytotaxonomy in trachea secretion on time, after the third day and the 7th day. Results The pulmonary function and cytotaxonomy of the patients in the experiment were more improvement than that of the control. Their alkyladeniue gtycosylase in trachea secretion and serum interleukin 8 were very lower than that of the control. The cure rate in the mild and the severe of the experi-ment were higher than that of the control. Conclusion Administrating theophyUine by oral can improve the pulmonary function, relax a block of the small trachea, and raise the cure rate of patients with bronchiolitis.

CT Diagnosis of Traumatic Cerebral Lacunar Infarction in Children / 实用放射学杂志

Objective To investigate CT features and its diagnostic value of traumatic cerebral lacunar infarction. Methods Axial CT scan was performed in 26 cases of brain injury with clinical manifestation of different degree of hemiplega.Results The infarction appeared as small lacunar focuses which were located mainly in the regions of lenticular nucleus,caudate nucleus and internal capsule.Conclusion CT scan is of significant value in diagnosing the traumatic cerebral lacunar infarction and assessing its prognosis.

CT Diagnosis of Split Cord Malformation in Children / 实用放射学杂志

Objective To study the appearances of split cord malformation(SCM)and evaluate the diagnostic value of CT for SCM.Methods Clinical and CT data of 48 cases with SCM were analyzed retrospectively ,21 were males and 27 were females,ranged from 1 day to 8 years with a mean of 11.6 months. All cases evaluated by plain CT with coronal and sagittal reconstructions.Results Type I accounted 75%, consisted of two hemicords, each contained in its dural tube and separated by a rigid median septum .TypeⅡaccounted 25%, consisted two hemicords contained in a single dural sac separated by a non-rigid, fibrous median septum. Associated abnormalities: tethered cord syndrome(n=38), syringomyelia(n=9), intradural lipomas(n=10), meningocele(n=18).Conclusion CT can clearly demostrate the position, the septum and the shape of the SCM, as well as associated abnormalities.