Objective:To investigate the expression levels and internal relations of matrix metalloproteinase-9(MMP-9), interleukin(IL)-1β and tissue inhibitor of metalloproteinase-1(TIMP-1) within 24 h after cerebral hypoxia and ischemia(HI) in neonatal rats.Methods:SD rats aged 7 days were randomly divided into HI group( n=40), and sham operation group(sham group, n=40). The HI models were established and divided into 5 subgroups with those at 8 cases in each group at 5 postoperative time points(0, 4, 8, 12, 24 h). Pathological changes of cerebral cortex were observed by HE staining, and the expressions of MMP-9, IL-1β and TIMP-1 were detected by Western blot and RT-PCR.In addition, the hypoxia models of mouse hippocampal neuron HT22 cells were established.With adding MMP-9 inhibitor and MMP-9 agonist, the relations among MMP-9, IL-1β and TIMP-1 were further confirmed. Results:Slight nuclear abnormalities and cell body swelling occurred in cerebral cortex at 4 h after HI, and neuronal eosinophilic changes were most obvious at 12 h. Compared with those at 8 h and 12 h, the expressions of MMP-9 and IL-1β at protein and mRNA level significantly increased at 24 h after HI( P<0.01). While MMP-9 inhibitor was added to HT22 cells under hypoxia at 4 h, IL-1β mRNA expression was down-regulated. Conclusion:In the early stage of hypoxic ischemic encephalopathy in newborn rats, the expressions of MMP-9 and TIMP-1 are time-dependent.Inhibition of MMP-9 expression could reduce the level of Interleukin-1β.

Autophagy is known as cellular degradation of long-lived proteins and organelles, by a double-membranound structure fusing with the lysosome, for recycling intraceUular constituents and reusing nutri-tion. Defective autophagy is closely correlated with tumorigenesis and tumor progress. There are crosstalks between autophay associated/regulative genes and oncogene/anti-oncogene. More over, regulative autophagic cell death may lead to an novol way for cancer therapy.

Objective To summarize the clinical and laboratory features of chronic manganese poisoning. Methods A retrospective analysis was conducted on the clinical data of 4 cases with chronic manganese poisoning, including gener?al information, medical history, clinical manifestations, laboratory examination such as electrophysiological and imaging. Results Patients with chronic manganese poisoning mainly presented with mild mental disorder and autonomic nerve dis?order during early stage and then gradually developed extrapyramidal symptoms and signs. The laboratory examination of chronic manganese poisoning lacked of specificity. EMG showed neurogenic damage in 3 cases and normality in 1 case. EEG showed slightly increased full guide slow wave in 1 case and normality in 3 cases. cranial MRI revealed the damag?es in bilateral symmetry of the basal ganglia nuclei in 4 cases of Chronic manganese poisoning. There was no significant correlation between the changes of urinary manganese level before or after treatment and the clinical manifestations. Conclusions Although there is lack of specific clinical manifestations of chronic manganese poisoning, the possibility of this disease should be considered when patients with mild mental disorders or autonomic nerve disorder with or without extrapyramidal symptoms. The main treatment of chronic manganese poisoning includes excretion of manganese, symp?tomatic and supportive treatment. Patients usually have the sequelae of tremor, muscle tension, and other symptoms.

Objectives To explore the clinical and gene mutation characteristics of Gitelman syndrome in children. Method The clinical data of 3 children with Gitelman syndrome were retrospectively analyzed. Results All three cases were male and their age were 3, 8 and 10 years . The clinical manifestations were hypokalemia, hypomagnesemia, alkalosis, hyperreninemia,and hyperaldosteronemia.Gene detection revealed a complex heterozygous mutation in the SLC12A3 gene.A total of 5 mutation sites were found in the SLC12A3 gene,c.179C>T(Thr60Met),c.248 G>A(Arg83Gln),c.2129 C>A(Ser710X), c.2660+1G>A, c.1456G>A (Asp486Asn). After the diagnosis was confirmed, they were treated with potassium supplement, magnesium supplement, and spironolactone and the conditions were improved in all cases. Conclusions In children with hypokalemia, be aware of Gitelman syndrome, and gene detection is helpful for the diagnosis.

Objective:To evaluate and improve the performance of the newborn screening program for primary carnitine deficiency (PCD) based on tandem mass spectrometry and to investigate the incidence of PCD and molecular characteristics of SLC22A5 gene in Guangzhou.Methods:A total of 200 180 neonates born in Guangzhou from 2015 to 2019 were enrolled into the newborn screening program for PCD by tandem mass spectrometry at Guangzhou Newborn Screening Center. The positive results of screening for PCD was defined as free carnitine (C0) less than 10 μmol/L with decreased acylcarnitine species in dried blood spots of three to seven days after birth. Screen-positive newborns and their mothers were recalled for another blood spot sample. The diagnosis was confirmed based on decreased levels of C0 and acylcarnitine species in recalled blood spots and genetic analysis in SLC22A5 gene sequencing. The utility of using the sum of propionylcarnitine and palmitoylcarnitine (C3+C16) as a biomarker for acylcarnitine species in newborn screening was retrospectively evaluated. The levels of C0 and (C3+C16) at first screening were compared between newborns with PCD and newborns born to mothers with PCD by independent t test. The variant spectrum and known pathogenic variants carrier rate of SLC22A5 in 2 395 healthy children in Guangzhou Women and Children′s Medical Center through whole exon sequencing were analyzed. Results:Among 200 180 neonates, 239 (0.12%) cases were screen-positive for PCD. A total of 37 patients including 15 newborns and 22 mothers had confirmed PCD. The incidence of PCD was 1/13 345 in newborns and 1/9 099 in mothers, respectively. The positive predictive value of this program was 15.5%. Taking cutoff values of C0<8.5 μmol/L or C0 8.5~9.9 μmol/L with (C3+C16)<2 μmol/L, the number of screen-positive cases would be reduced from 810 to 224 without additional false negative case, when compared with cutoff value C0<10 μmol/L only. Both levels of C0 and (C3+C16) at first screening were not significant difference between newborns with PCD and newborns born to mothers with PCD ((6.2±2.4) vs. (5.0±1.8) μmol/L, (1.4±0.4) vs. (1.2±0.5) μmol/L, t=3.826, 0.326; P=0.058, 0.572). Seven PCD mothers experienced moderate fatigue and dizziness in the morning. One of them presented with cardiomyopathy in pregnancy. Genetic analysis of the SLC22A5 gene showed that p.S467C, p.F17L, p.R254X were the three most common variants in newborns with PCD. In PCD mothers and healthy children, the p.S467C, p.F17L and R399W were the three most common whereas the severe variant p.R254X was rare. The population carrier rate for pathogenic variants was 1 in 65 and the estimated incidence of PCD was about 1/16 500. Conclusions:Newborn screening can detect PCD both in newborns and mothers. Adding a quantitative biomarker (C3+C16) <2 μmol/L into the newborn screening program can improve the PCD screen performance. The severe variant p.R253X was common in PCD newborns but rare in PCD mothers and healthy children, indicating that the current screening program maybe failed to detect all PCD newborns and under-estimated the incidence rate of PCD in Guangzhou.

Objective:To evaluate the current status of knowledge and behavior in breast milk collection and storage among nurses in the Neonatal Intensive Care Unit (NICU) , and to explore the factors influencing knowledge and behavior of nurses.Methods:By adopting the convenient sampling method, a total of 175 NICU nurses from ClassⅢ Grade A hospitals in Henan province were selected as the research objects in April 2019. A cross-sectional survey of NICU nurses was conducted using the knowledge and behavior questionnaire on breast milk collection and storage of NICU nurses. A total of 175 questionnaires were issued and 175 were recovered, with a recovery rate of 100%.Results:The total score of knowledge and behavior standards of breast milk collection and storage of 175 NICU nurses was (59.69±8.24) , which was at a low level. Among which, the score of knowledge dimension standard was (43.11±9.74) , and the score of behavior dimension standard was (33.58±5.14) . 85.1% (149/175) NICU nurses had not received special training in breast milk collection and storage, and there were great individual differences in the perception of the working environment of breast milk collection and storage among NICU nurses. The results of multivariate analysis showed that age, working environmentperception score of breast milk collection and storage and training of breast milk collection and storage were the main influencing factors of breast milk collection and storage knowledge behavior of NICU nurses ( P<0.05) . Conclusions:The knowledge and behavior of NICU nurses in breast milk collection and storage need to be improved, especially in breast milk thawing, storage temperature and other issues. Nursing managers should formulate objective and unified breast milk collection and storage systems and procedures and strengthen relevant training for nurses to improve nurses' perception of the working environment of breast milk collection and storage, strengthen relevant knowledge and improve breast milk collection and storage behavior.

Objective:To investigate the current status of family resilience of children with acute leukemia and explore its influencing factors.Methods:Using the convenient sampling method, the families of children with acute leukemia who were admitted to 2 wards of Department of Hematology and Oncology of a Children's Hospital in Zhengzhou from April to August 2019 were selected as the research objects. The survey was conducted using the general information questionnaire, the Chinese-Family Resilience Assessment Scale (C-FRAS) and Chinese version of Posttraumatic Growth Inventory (PTGI) . A total of 220 questionnaires were issued, 207 of which were valid, with an effective recovery rate of 94.1%.Results:The total score of C-FRAS of main caregivers of 207 children with acute leukemia was (122.86±13.97) , the total score of Chinese version of PTGI was (65.31±14.82) . The total score of C-FRAS was positively correlated with the total score of Chinese version of PTGI ( P<0.05) . Multiple linear regression analysis showed that treatment time, the relationship with the children, whether there was social assistance, whether there was only one child, and the posttraumatic growth of the main caregiver were the influencing factors of the family resilience of children with acute leukemia ( P<0.05) . Conclusions:The family resilience of children with acute leukemia is at a moderate level, and the posttraumatic growth of the main caregiver of the children is at a moderate to upper level. The treatment time, the relationship with the children, whether there is social assistance, whether there is only one childand the post-traumatic growth of the main caregiver are the influencing factors of the family resilience of children with acute leukemia. In the process of clinical nursing, the family advantage can be promoted by improving the post-traumatic growth level of the main caregivers and help the families of the children to adapt well.

Objective To investigate the clinical features of Parkinson disease (PD)with constipation.Methods From October 2013 to August 2015,a total of 204 PD patients were consecutively recruited from the Departments of Geriatrics and Neurology,Beijing Tiantan Hospital,Capital Medical University,and were evaluated by Rome Ⅲ diagnostic criteria for functional constipation and other related scales of motor symptoms(MS)and non-motor symptoms(NMS),the activity of daily living(ADL)and quality of life.Results Overall,131 of 204(64.2％)PD patients with constipation were assigned to the PD-C group and 73 of 204 (35.8％)PD patients without constipation were assigned to the PD-NC group.In the PD-C group,38 of 131(29％)PD patients had constipation before motor symptoms occurred.The mean age and age of onset in the PD-C group were significantly older than those in the PD-NC group (64.13 ± 9.67 vs.58.35 ± 11.37;60.07 ± 10.46 vs.55.10±12.97;F=2.287,4.948;t=3.827,-2.788;P＜0.01 for both).Meanwhile,compared with the PD-NC group,the PD-C group was associated with dramatically longer disease duration (2.25,range:1.00-5.00 vs.2.00,range:1.00-3.13;Z =-2.254;P ＜ 0.05),increased scores of the Unified Parkinson Disease Rating Scale (UPDRS) Ⅲ (26.00 scores,range:18.00 37.50 vs.19.00,range:12.50-31.00;Z =-2.349,P ＜ 0.05),more advanced stages on the Hoehn-Yahr (H-Y) scale (2.00 stage,range:1.50-2.50 vs.1.50,range:1.00-2.50;Z=-2.334,P＜0.05),higher total numbers of NMS(11.00,range:6.00-15.00 vs.6.00,range:3.00-11.00;Z=-3.715,P＜0.05),and higher numbers of NMS occurring before and after MS(before,2.00,range:0.00-4.00 vs.1.00,range:0.00-2.00;after,8.00,range:3.00-14.00 vs.5.00,range:2.00-9.50;Z =-2.612,-2.630,respectively;P＜0.05 for both).Additionally,there were significant differences between the groups in the scores of the Hamilton depression scale (HAMD),the Hamilton anxiety scale (HAMA),the Pittsburgh sleep quality index (PSQI),the scales for outcomes in Parkinson disease-autonomic (SCOPA-AUT),the Fatigue severity scale (FSS),the Apathy scale,the Montreal Cognitive Assessment(MoCA)scale,the UPDRS Ⅱ and ADL Scale,and the PDQL-39 (all P＜0.05).Binary Logistic regression analysis showed that age,SCOPA-AUT,HAMA and HAMD were risk factors for PD-C(OR=1.091,1.107,1.10 and 1.080;P＜0.05 for all).Conclusions PD patients have a high incidence of constipation,and more than a quarter of patients have constipation before MS occurs.Meanwhile,PD patients with constipation are usually associated with old age and late age of onset,long disease duration,severe MS,frequent and severe NMS,bad cognition,emotional state and sleep,severe fatigue,and apathy.Moreover,advanced age,autonomic dysfunction,anxiety and depression increase the risk of PD with constipation.Constipation has a serious negative impact on the activity of daily living and quality of life in PD patients.

Objective To investigate the risk factors for short-term prognosis in patients with HBV-related acute-on-chronic liver failure (ACLF). Methods A retrospective analysis was performed for the clinical data of 119 patients with HBV-related ACLF who were admitted to Mengchao Hepatobiliary Hospital of Fujian Medical University from October 2019 to October 2020, and according to their survival status on day 90, they were divided into death group and survival group. The patients were given antiviral therapy with entecavir or tenofovir. Related clinical data were collected, including alanine aminotransferase (ALT), aspartate aminotransferase, cholinesterase (ChE), albumin (Alb), cholesterol, alpha-fetoprotein, and HBV DNA at baseline, as well as the incidence rate of important complications. Model for End-Stage Liver Disease (MELD) score was also calculated. The t -test or the Mann-Whitney U test was used for comparison of continuous data between two groups, and the chi-squared test was used for comparison of categorical data between two groups; a logistic regression analysis was used to investigate the influencing factors for the 90-day prognosis of patients with HBV-related ACLF and establish a new predictive model; the receiver operating characteristic (ROC) curve was used to evaluate the diagnostic efficiency of the new model in predicting the prognosis of HBV-related ACLF. Results Of all patients, 33 died within 90 days, resulting in a mortality rate of 27.7%. There were significant differences between the survival group and the death group in age, ALT, Alb, ChE, MELD score, and incidence rates of hepatic encephalopathy, primary peritonitis, and hepatorenal syndrome (all P < 0.05). The logistic regression analysis showed that baseline hepatic encephalopathy (odds ratio [ OR ]=10.404, 95% confidence interval [ CI ]: 2.522-42.926, P =0.001), serum Alb at baseline ( OR =0.853, 95% CI : 0.764-0.952, P =0.005), and MELD score at baseline ( OR =1.143, 95% CI : 1.036-1.261, P =0.008) were independent predictive factors for the short-term prognosis of patients with HBV-related ACLF. A new predictive model was established based on the combination of these three indices, and the ROC curve analysis showed that this new model had an area under the curve of 0.833, while MELD score had an area under the ROC curve of 0.672. Conclusion As for the evaluation of the 90-day prognosis of patients with HBV-related ACLF, the new prognostic model established based on hepatic encephalopathy, Alb, and MELD score has a better predictive value than MELD score alone.