Natural history of spinal muscular atrophy in children: an analysis of 117 cases / 中国当代儿科杂志

OBJECTIVES@#To study the natural history of spinal muscular atrophy (SMA) in Chongqing and surrounding areas, China, and to provide a clinical basis for comprehensive management and gene modification therapy for SMA.@*METHODS@#A retrospective analysis was performed on the medical data and survival status of 117 children with SMA.@*RESULTS@#Of the 117 children, 62 (53.0%) had type 1 SMA, 45 (38.5%) had type 2 SMA, and 10 (8.5%) had type 3 SMA, with a median age of onset of 2 months, 10 months, and 15 months, respectively. Compared with the children with type 2 SMA or type 3 SMA, the children with type 1 SMA had significantly shorter time to onset, consultation, and confirmed diagnosis (@*CONCLUSIONS@#There are differences in clinical manifestations and survival rates among children with different types of SMA. The children with type 1 SMA have a low survival rate, and those with type 2 SMA may have non-linear regression of motor ability. Early identification and management of SMA should be performed in clinical practice.

An interpretation of the expert consensus on standards for the management of patients with primary mitochondrial disease from the Mitochondrial Medicine Society / 中国当代儿科杂志

Primary mitochondrial disease is the most common inborn error of metabolism and is highly heterogeneous in terms of clinical manifestations and inheritance pattern. It has high mortality and disability rates. Multiple systems are often involved in this disease, and it is necessary to perform comprehensive evaluation and multidisciplinary management. The Mitochondrial Medicine Society issued the standard for the management of patients with primary mitochondrial disease: consensus statements from the Mitochondrial Medicine Society in 2017. The statements provided recommendations based on such consensus to guide the management and care of patients. This article interprets and summarizes the screening of organs and systems commonly involved in primary mitochondrial disease and the management of patients according to the consensus.

Twist regulates proliferation, migration and invasion of osteosarcoma cells in vitro / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the role of Twist in regulating the proliferation, migration, and invasion of osteosarcoma cells with different levels of malignancy.</p><p><b>METHODS</b>The baseline expressions of Twist in 3 different osteosarcoma cell lines (143B, MG63 and TE85) were detected using real-time PCR and Western blotting. The cells were infected with the recombinant adenoviruses Ad-Twist or Ad-siTwist for Twist overexpression or knockdown, respectively, and the cell growth curves were drawn to assess the cell proliferation. The migration abilities and invasiveness of the cells were evaluated using wound healing assay and Transwell assay. Luc-labeled 143B cells infected with Ad-Twist or Ad-siTwist were intrathecally injected to establish nude mouse models bearing osteosarcoma xenografts, in which the tumor formation was monitored using living body imaging technique.</p><p><b>RESULTS</b>The baseline expressions of Twist in the 3 osteosarcoma cells were significantly higher than that in C3H10 cells (P<0.05). Twist expression was the highest in 143B cells followed by MG63 cells, and was the lowest in TE85 cells, indicating its positive correlation with the level of malignancy of the osteosarcoma cells. Ad-Twist or Ad-siTwist infection efficiently enhanced or lowered Twist expressions at both mRNA and protein levels in osteosarcoma cells (P<0.05). Twist overexpression resulted in enhanced proliferation, migration and invasion abilities of osteosarcoma cells, and Twist knockdown obviously inhibited the cell proliferation, migration and invasion. In nude mice, 143B cells with Twist overexpression showed accelerated tumor formation compared with the control cells, while Twist knockdown significantly inhibited the tumor formation ability of the cells.</p><p><b>CONCLUSION</b>Twist overexpression can promote the proliferation, migration, invasion and tumorigenicity of osteosarcoma cells.</p>

Occurrence and intervention of hysteria in left-behind children in Chongqing rural area / 中华实用儿科临床杂志

Objective To analyze the clinical characteristics and the interventional effects of hysteria in leftbehind children in Chongqing rural area for early detection,early treatment and prevention of the disease.Methods One hundred and three left-behind children aged from 7 to 17 years were diagnosed as hysteria from Jun.2008 to Jun.2011.Their general information,clinical presentations were analyzed retrospectively.After comprehensive intervention,they were assessed the clinical efficacy in accordance with Brief Psychiatric Rating Scale,and some of them were tested by Eysenck Personality Questionnaire (EPQ) and Symptom Checklist (SCL-90).Results There were many clinical forms of hysteria in 103 left-behind children.Physical dysfunction accounted for 72 cases(69.90％),whose symptoms were mainly paralysis and convulsive seizure,which was significantly higher than mental disorder(5 cases,4.9％).The mixed episode of physical dysfunction and mental disorder accounted for 26 cases (25.40％).Seventy-eight cases (75.73 ％) were cured,19 cases (18.45％) improved significantly,and 6 cases (5.83％) improved respectively after intervention of 3 to 12 days.Emotional instability accounted for 12 cases(63.16％) in personality factors with EPQ test in 19 cases.Their factors of somatization,interpersonal relationship,depression,anxiety,and hostility with SCL-90 significantly decreased(all P ＜0.05) after intervention of 7 to 12 days.Conclusions The main forms of hysteria in leftbehind children in Chongqing rural area are physical dysfunction and mixed episode,which are paralysis and convulsive seizure.Emotional instability is common in personality factors for them.It can be achieved good results of hysteria in left-behind children to pay attention to the emotional exchange between the children and their parents,early detect,early treat and active prevent the disease.

Significance of Changes of Neuron-Specific Enolase Level in Cerebrospinal Fluid and Serum of Children with Convulsion / 实用儿科临床杂志

Objective To explore the levels of neuron-specific enolase(NSE)in serum and cerebrospinal fluid(CSF) of children with convulsion,and its significance to the diagnosis of neuronal damage was evaluated.Methods Sixty patients were enrolled,and they were divided into 4 groups:non-nervous system disease group,peripheral nervous system disease group,brief convulsion group,and prolonged/status convulsion group.The levels of NSE in serum and CSF were detected in 4 groups,and the electroencephalography(EEG) and computed tomography/magnetic resonance imaging(CT/MRI) examinations were taken to observe the changes in patients with convulsion.Results The levels of NSE in serum and CSF of children with convulsion increased significant,especially in the prolonged/status convulsion group.Changes of NSE levels in serum and CSF were similar.Meanwhile,significant changes were found in EEG between the brief convulsion group and prolonged/status convulsion group;but no significantly changes were found in CT/MRI between the 2 groups.Conclusions NSE detection might be valuable to the diagnosis for neuronal damage in early time.The changes of NSE levels are similar to those in EEG,which are more sensitive than the changes in CT/MRI.It is very important to combine the NSE detection in serum or CSF and EEG examination in early time after convulsion for judgement to the neuronal damage and prognosis.