Non-autophagic degradation roles of autophagy receptors / 药学学报

A growing body of evidence has indicated the important role of autophagy receptors in directing ubiquitinated or non-ubiquitinated cargos towards autophagy. Autophagy receptors bind to LC3 (microtubule- associated protein 1 1ight chain 3) on phagophore and autophagosome membranes, and recognize signals on cargoes in the delivery system of autophagy. However, the diverse domains in the receptor structures determine that their roles would never be limited to autophagy. Up to date, increasing numbers of the receptor proteins have been demonstrated to serve as a molecular link or switch participating in autophagic degradation, apoptosis or cell survival signals. Here, we highlight the non-autophagic roles of these receptor proteins to draw attention to this growing research topic.

Non-autophagic degradation roles of autophagy receptors / 药学学报

A growing body of evidence has indicated the important role of autophagy receptors in directing ubiquitinated or non-ubiquitinated cargos towards autophagy. Autophagy receptors bind to LC3 (microtubule-associated protein 1 light chain 3) on phagophore and autophagosome membranes, and recognize signals on cargoes in the delivery system of autophagy. However, the diverse domains in the receptor structures determine that their roles would never be limited to autophagy. Up to date, increasing numbers of the receptor proteins have been demonstrated to serve as a molecular link or switch participating in autophagic degradation, apoptosis or cell survival signals. Here, we highlight the non-autophagic roles of these receptor proteins to draw attention to this growing research topic.

Overview of cell model related to refractory epilepsy / 中华实用儿科临床杂志

Refractory epilepsy is one of the most thorny problems and its etiology is unkown.Attempts to study on the mechanism of refractory epilepsy are harmpered by the lack of suitable brain tissue from patients with this disease.This paper reviews the establishment and mechanism of cell model related to refractory epilepsy.

Clinical and image features, and identification of pathogenic gene mutation of two cleidocranial dysplasia families / 中华儿科杂志

<p><b>OBJECTIVE</b>Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in the osteoblast-specific transcription factor-encoding gene, core binding factor α1 (CBFA1). Over 90 mutations in CBFA1 gene have been published to date in 500 independent cases of CCD, including missense mutations, deletions, insertions, frameshift, and splice mutations. However, mutational screening of the CBFA1 gene is still far from saturation, and more novel mutations will be identified to enrich the insights into the molecular basis for the pathogenesis of CCD. The aim of this study was to explore the clinical and image features and detect the mutations of CBFA1 gene in two CCD families.</p><p><b>METHOD</b>In this study, the clinical features were investigated in two CCD families, radiological and CT examinations regarding osseous malformation were carried out over the entire body of these patients with CCD. Blood (2 ml) was drawn from all affected individuals, unaffected family members and one hundred unrelated normal controls, Genomic DNA was extracted from whole blood with PureGene DNA extraction kit and PCR was performed with eight pairs of PCR primers for exons 0 to 7 of the CBFA1 gene. The mutations of CBFA1 gene were screened in these two CCD families.</p><p><b>RESULT</b>(1) The clinical features of patients with CCD include delayed closure of fontanelles, frontal bossing, dysplasia of clavicles, late tooth eruption, and other skeletal anomalies. X-ray and CT examination showed the bulging calvarium, patent fontanelles, wide cranial sutures, multiple Wormian bones, dental dysplasia or aplasia of clavicles. (2) Two mutations were identified, one is novel missense mutation (c.1259C > T[p.T420I]) in CBFA1 gene exon 7, other (c.577C > T[p.R193X]) was reported in Chinese cases with CCD for the first time.</p><p><b>CONCLUSION</b>(1) The clinical and image features of patients in two CCD families include delayed closure of fontanelles, frontal bossing, dysplasia of clavicles, late tooth eruption, and other skeletal anomalies. (2) The T420I and R193X mutations of CBFA1 were reported, expanding the spectrum of CBFA1 mutations causing CCD.</p>

Life Quality of Children with Intractable Epilepsy and Effect of Psychological Intervention on Them / 实用儿科临床杂志

Objective To investigate the life quality of children with intractable epilepsy and observe the effect of psychological intervention on them.Methods Thirty-nine children with intractable epilepsy,42 children with drug respond epilepsy and 40 healthy children were employed and tested by using of the child self-report scale of quality of life for children with epilepsy.Scores of quality of life were compared among 3 groups.Children with intractable epilepsy were divided randomly into 2 groups:psychological intervention group(19 cases)and non psychological intervention group(20 cases).Only drug treatment was given in non psychological intervention group,drug treatment and psychological intervention were given in psychological intervention group,quality of life was valuated before and 1 month after psychological intervention,then scores of quality of life were compared after and before psychological intervention in psychological intervention group,total scores of quality of life were compared between psychological intervention group after and before psychological intervention and non psychological intervention group.Results Compared with children with drug respond epilepsy and healthy children,the children with intractable epilepsy had lower scores of quality of life(Pa