OBJECTIVE: To explore the genetic etiology of a patient with glycogen accumulation type Ⅰa with gout as the main clinical feature. METHODS: Clinical data of the patient was collected. The patient and her parents were subjected to next generation sequencing (NGS). Suspected pathogenic variation was verified by Sanger sequencing. RESULTS: The patient, a 30-year-old women, mainly manifested hyperuricemia, chronic gouty arthritis, fasting hypoglycemia, hypertriglyceridemia, hyperlactatemia, hepatomegaly, urolithiasis, and gradually developed liver nodules and renal dysfunction. NGS revealed that she has carried c.648G>T (exon 5) and c.260delG (exon 2) compound heterozygous variants of the G6PC gene, which were respectively inherited from her father (phenotypically normal) and mother (with hyperuricemia). The c.260delG variant was unreported previously. Bioinformatic analysis indicated that both variants are pathogenic. CONCLUSION The compound heterozygous variants of the G6PC gene probably underlay the glycogen storage disease Ⅰa in this patient. G6PC gene mutations should be excluded in young women with hyperuricemia and /or gout.

Objective:To investigate the current status of health checkups and the management willingness of post-test abnormal values in residents of mega communities, and to explore the factors affecting the demand for health management of abnormal values after examination.Methods:A cross-sectional study. The residents of Huaguoyuan Community in Guiyang City were enrolled as the objects of this surveywith stratified systematic sampling method and questionnaire survey. The binary logistic regression was used to analyze the influencing factors of health management demand for abnormal values after examination.Results:There were 404 residents participating in this survey, and 182 cases were male (45.05%) and 222 cases were female (54.95%); the mean age was (39.64±15.03) years. There were 179 (44.31%) urban residents and 225 (55.69%) rural residents. There were 162 (40.10%) floating population and 242 (59.90%) non-floating population. Of the residents, 34.2% participated in the physical examination independently due to physical reasons. The age ( χ 2=16.227), household registration ( χ 2=16.117) and occupation ( χ 2=36.454) had statistically significant differences in residents′ participation in physical examination; the household registration ( χ 2=18.726, P<0.001) and occupation ( χ 2=18.094, P=0.034) had significant differences in the handling methods of abnormal values of physical examination. The age ( OR=7.00, P=0.032) and income ( OR=0.33, P=0.047) were the influencing factors of health management needs of abnormal values after health checkup. Conclusion:The awareness of active physical examination of residents in mega community is weak, and it is recommended to strengthen health education and health promotion; residents have a high willingness to the management of abnormal values after health checkup, it can be an important supplement to improve the service quality of physical examination related institutions.

Objective To explore the effect of apolipoprotein E (ApoE) on secretions of matrix metalloproteinase-9 (MMP-9),matrix metalloproteinase tissue inhibitor-1 (TIMP-1) and inflammatory factors in spleen macrophages at early stage of experimental autoimmune encephalomyelitis (EAE).Methods In accordance with random number table,20 ApoE knockout (ApoE-/-) C57BL/6J mice were divided into ApoE-/-EAE group and ApoE-/-control group (n=10);and 20 wild type (WT) C57BL/6J mice were divided into WT EAE group and WT control group (n=10).Myelin oligodendrocyte glycoprotein 35-55 (MOG35-55) was used as antigen to induce EAE models in the ApoE-/-EAE group and WT EAE group,and MOG35-55 was replaced by normal saline in ApoE-/-control group and WT control group.The spleen macrophages were isolated from mice after 7th d of modeling and cultured in vitro;the rnacrophages of the ApoE-/-EAE group and WT EAE group were stimulated by MOG35-55,while the macrophages of the ApoE-/-control group and WT control group were treated with equivalent normal saline.Forty-eight hafter that,the contents of MMP-9,TIMP-1,interferon gamma-γ(IFN-γ),tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) in the culture medium were determined by ELISA.Results The contents of MMP-9,TFN-γ TNF-α and IL-6 in the WT EAE group were significantly higher than those in the WT control group (P＜0.05);the contents of MMP-9,IFN-γ 、TNF-α and IL-6 in the ApoE-/-EAE group were significantly higher than those in the ApoE-/-control group (P＜0.05);the content ofMMP-9,IFN-γ,TNF-cα and IL-6 in ApoE-/-EAE group were significantly higher than those in the WT EAE group (P＜0.05).The TIMP-1 secretion ofmacrophages in WT EAE group was significantly higher than that in WT control group (P＜0.05).Conclusions At early stage of EAE,macrophages secrete high levels of MMP-9 and inflammatory factors,and the deficiency of ApoE further contributes to the secretions of MMP-9 and inflammatory factors by macrophages.ApoE may play a role in protecting the integrity of blood-brain barrier and alleviating the inflammatory response of the central nervous system through the effects on macrophages.

Objective:To analyze the effect of integrated care model on relocation stress and sense of coherence in caregivers of severe multiple injuries patients after ICU transfer.Methods:From January 2017 to October 2019, 102 caregivers of severe multiple injuries patients in ICU of Liuzhou Worker′s Hospital were selected and divided into control group and observation group by random digits table method,with 51 cases in each group. In the process of ICU transfer the control group received routine nursing, while the observation group carried out integrated care model based on the control group scheme. Before and after ICU transfer, the degree of relocation stress and sense of coherence of caregivers in two groups were evaluated by Family Relocation Stress Scale (FRSS) and Sense of Coherence Scale (SOCS) respectively.Results:The scores of migration preparation dimension, migration satisfaction dimension,caregiver stress dimension and the total scores of FRSS were 17.51 ± 3.46, 4.81 ± 0.48, 11.69 ± 1.82 and 49.91 ± 4.51 in the observation group, which were significantly higher than those in the control group after transfer (13.61 ± 2.83, 3.32 ± 0.53, 9.42 ± 2.17, 39.25 ± 4.01)( t values were 5.12-7.64, all P<0.05). The scores of manage ability dimension, comprehensibility dimension, meaningfulness dimension and the total scores of SOCS were 29.58 ± 4.96, 24.07 ± 2.72, 22.04 ± 3.64 and 75.52 ± 6.80 in the observation group, which were significantly higher than those in the control group (24.34 ± 4.13, 20.50 ± 2.99, 17.19 ± 3.96, 64.80 ± 6.12) after transfer ( t values were 4.51-7.01, all P<0.05). Conclusions:The integrated care model can significantly alleviate relocation stress and promote sense of coherence in caregivers of severemultiple injuriespatients after ICU transfer.