Objective:To study the clinical manifestations and genetic characteristics of neonatal-onset primary mitochondrial disease (PMD) caused by nuclear gene mutations.Methods:From May 2020 to March 2022, the clinical data, genetic results and follow-up information of neonates with PMD admitted to the Department of Neonatology of our two hospitals were retrospectively analyzed.Results:A total of 4 patients were enrolled, all with hyperlactatemia and metabolic acidosis. In case 1, the fetal cranial MRI showed agenesis of corpus callosum. In case 2, echocardiography after birth indicated hypertrophic cardiomyopathy. Whole exome sequencing found the following mutations: EARS2 nuclear gene c.1294C>T and c.971G>T variants, COA6 nuclear gene c.411_412insAAAG variant, ACAD9 nuclear gene c.1278+1G>A and c.895A>T variants, FOXRED1 nuclear gene c.1054C>T and c.3dup variants. Mitochondrial second-generation sequencing and multiplex ligation-dependent probe amplification showed no abnormalities. Cases 1 and 3 died during the neonatal period. Case 2 died at 2-year-and-2-month of age. Case 4 was followed up to 1 year of age with developmental delay.Conclusions:The main phenotypes of neonatal-onset PMD caused by nuclear gene mutations are hyperlactatemia, refractory metabolic acidosis and cardiomyopathy, which have a poor prognosis. Proactive genetic tests are helpful for early diagnosis.

Insulin autoimmune syndrome(IAS),also known as autoimmune hypoglycemia,is one of the rare causes of hypoglycemia.Here,we described a case of a 57-year-old patient with type 2 diabetes mellitus who experienced recurrent and irregular severe hypoglycemic events after using lipoic acid.His insulin autoantibodies changed from negative to positive,and no pathogenic variation or suspected pathogenic variation related to the clinical feature of the subject was detected by gene test.Eventually,the patient was diagnosed as IAS.

OBJECTIVE: To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS). METHODS: Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted by using software including PolyPhen-2 and Mutation taster. RESULTS: The pair of twins have featured growth and intelligence retardation, and were found to carry compound heterozygous variants of the ANTXR2 gene including c.1214G>A and c.1074delT, among which c.1214G>A was unreported previously. Both variants were predicted to be pathogenic. In addition to growth and mental delay, the pair of twins also featured hyperplasia of the gum and soft tissue-like masses of the auricle. The younger brother had rupture of the auricle mass during follow-up. CONCLUSION The patients' condition can probably be attributed to the compound heterozygous variants of the ANTXR2 gene. Above finding has facilitated molecular diagnosis of the patients.
Asian Continental Ancestry Group/genetics* ; China ; Humans ; Hyalinosis, Systemic/genetics* ; Male ; Mutation ; Pedigree ; Receptors, Peptide/genetics* ; Retrospective Studies

Objective:To explore the effect of elastic band resistance training in the balance ability training of inpatients in Geriatric Department.Methods:From January to December 2019, 70 inpatients in the Geriatrics Department of a ClassⅡ general hospital in Beijing were selected and randomly divided into observation group and control group, with 35 cases in each group. Control group used routine exercise health education and supervised patients to complete the activity. On the basis of control group, observation group carried out balance training according to the elastic band resistance training method. Before and after the intervention, the differences in the grip strength, Short Physical Performance Battery (SPPB) , single-legged standing with eyes closed, and Timed up and Go (TUG) test of patients were compared between the two groups.Results:After 12 weeks of intervention, patients of observation group had grip strength (27.371±8.769) kg, total SPPB score (8.657±1.259) , time of single-legged standing with eyes close (5.151±1.551) s, and TUG test (14.031±3.666) s, higher than those of control group, the differences were statistically significant ( t=3.148, 5.505, 31.128, 2.269; P<0.05) . Conclusions:Elastic band resistance training can improve the limb strength and balance ability of elderly hospitalized patients, which can be further promoted.

Hippo signaling pathway plays a significant role in the development of colorectal cancer,and acts as an important regulatory pathway which regulates cell proliferation and cell differentiation.Multiple proteins and genes in Hippo signaling pathway,especially the downstream YAP protein,play important roles in the occurrence,metastasis,drug resistance and recurrence of colorectal cancer.YAP and other related genes can be used as targeted markers for predicting drug resistance to colorectal cancer.Hippo signaling pathway gene network can be used as targeted therapy or combination therapy,thus providing new ideas for the treatment of colorectal cancer.

Objective To investigate the possible mechanism of coix seed in inducing apoptosis of gastric cancer cells (SGC-7901). Methods Different concentrations of coix seed oil (2, 4, 8 mg/mL) were applied to SGC-7901 cells. MTT assay was used to detect the effect of drugs on cell proliferation, and flow cytometry for drug-induced cell apoptosis, scratch test for cell migration inhibited by coix seed oil, Transwell chamber for drug-inhibited cell invasion, and Western blot for expression of related proteins PRMT5, PI3 K and AKT. Results The results of MTT showed that 2, 4 mg/mL of coix seed oil could significantly inhibit the proliferation of SGC-7901 cells, and the inhibition rate of 2 mg/mL was (30. 02 ± 1. 56) ％, which showed significant difference compared to the control group (P ＜ 0. 01). The results of flow cytometry showed that the apoptosis rates of coix seed oil cells at concentrations of 2 and 4 mg/mL were (16. 25 ± 2. 54) ％, (12. 60 ± 1. 12) ％, respectively, and which showed a significant difference compared with (2. 0 ± 1. 22) ％ in the control group (P ＜ 0. 01). The results of cell scratch test showed that the migration of SGC-7901 cells treated with 2, 4 mg/mL of coix seed oil had significant difference when compared to control group (P ＜0. 01). The results of invasion experiments showed that 2, 4 mg/mL of coix seed oil could significantly inhibit cell invasion, and the number of cell invasion was (134. 00 ± 2. 86), (167. 00 ±0. 99), respectively, which showed significant difference compared to (268. 00 ± 2. 05) in the control group (P ＜ 0. 01). The migration number in 8 mg/mL coix seed oil group was (167 ± 0. 99), a significant difference was observed when compared to the control group (P ＜ 0. 05). Western blot analysis showed that different concentrations of coix seed oil could significantly down-regulate the expression of PRMT5, PI3 K and AKT in SGC-7901 cells. Conclusion Coix seed oil can significantly inhibit the proliferation, migration and invasion of gastric cancer SGC-7901 cells, its possible mechanism is to down-regulate the signal pathway of PRMT5-PI3 K/AKT to inhibit the activation of various anti-apoptotic molecules, induce apoptosis and suppress invasion and metastasis of gastric cancer SGC-7901 cells by down-regulating the PRMT5-PI3 K/AKT signaling pathway.

Objective To investigate the possible mechanism of coix seed in inducing apoptosis of gastric cancer cells (SGC-7901). Methods Different concentrations of coix seed oil (2, 4, 8 mg/mL) were applied to SGC-7901 cells. MTT assay was used to detect the effect of drugs on cell proliferation, and flow cytometry for drug-induced cell apoptosis, scratch test for cell migration inhibited by coix seed oil, Transwell chamber for drug-inhibited cell invasion, and Western blot for expression of related proteins PRMT5, PI3 K and AKT. Results The results of MTT showed that 2, 4 mg/mL of coix seed oil could significantly inhibit the proliferation of SGC-7901 cells, and the inhibition rate of 2 mg/mL was (30. 02 ± 1. 56) ％, which showed significant difference compared to the control group (P ＜ 0. 01). The results of flow cytometry showed that the apoptosis rates of coix seed oil cells at concentrations of 2 and 4 mg/mL were (16. 25 ± 2. 54) ％, (12. 60 ± 1. 12) ％, respectively, and which showed a significant difference compared with (2. 0 ± 1. 22) ％ in the control group (P ＜ 0. 01). The results of cell scratch test showed that the migration of SGC-7901 cells treated with 2, 4 mg/mL of coix seed oil had significant difference when compared to control group (P ＜0. 01). The results of invasion experiments showed that 2, 4 mg/mL of coix seed oil could significantly inhibit cell invasion, and the number of cell invasion was (134. 00 ± 2. 86), (167. 00 ±0. 99), respectively, which showed significant difference compared to (268. 00 ± 2. 05) in the control group (P ＜ 0. 01). The migration number in 8 mg/mL coix seed oil group was (167 ± 0. 99), a significant difference was observed when compared to the control group (P ＜ 0. 05). Western blot analysis showed that different concentrations of coix seed oil could significantly down-regulate the expression of PRMT5, PI3 K and AKT in SGC-7901 cells. Conclusion Coix seed oil can significantly inhibit the proliferation, migration and invasion of gastric cancer SGC-7901 cells, its possible mechanism is to down-regulate the signal pathway of PRMT5-PI3 K/AKT to inhibit the activation of various anti-apoptotic molecules, induce apoptosis and suppress invasion and metastasis of gastric cancer SGC-7901 cells by down-regulating the PRMT5-PI3 K/AKT signaling pathway.

Objective To observe the effects of Yuanzhi San (YZS) on the ethology and cerebral acetylcholinesterase(AchE) activity of mouse model of memory disorder induced by scopolamine. Methods Sixty mice were randomly divided into six groups, namely blank control group, model group, positive medicine group, and low-dose, middle-dose and high-dose YZS groups. Except for the blank control group and model group were given the normal saline, the mice in other groups were administered with the corresponding drugs for 10 days. And then, mice in the medication groups were given subcutaneous injection of scopolamine in the dose of 3mg/kg to induce memory disorder model. Morris water maze test and step-down test were adopted for the observation of the learning-memory ability of the mice, and at the end of the tests, the activity of AchE in mouse cerebral cortex was measured by a biochemical method. Results Compared with the model group, escape latency was decreased, and retention time and swimming distance in the effective area in Morris water maze test were prolonged in YZS groups (P<0.05); latency in step-down test was also prolonged (P<0.05). YZS had an effect on decreasing AchE activity in the cerebral cortex of model mice (P < 0.05 compared with the model group). However, the differences were insignificant among the medication groups(P>0.05). Conclusion YZS exerts certain effect on improving learning-memory ability of memory disorder mice induced by scopolamine , and the mechanism might be related with the inhibition of AchE activity in the cerebral cortex of model mice.

Objective To detect the application effect of position management process in patients with lateral position in the Department of Neurosurgery.Methods We recruited 506 patients undergoing elective neurosurgery posed lateral position from August 2015 to May 2016 in Cangzhou Central Hospital and divided them into control group and experimental group by their surgery date, with 253 cases in each group. The patients received routine method for position arrangement while patient in experimental group underwent position management process. The rate of ulcer and length of position arrangement were compared between two groups. Results The length of moving patients to the end of position arrangement required (11±4.25) min averagely in experimental group and (15±3.86)min in control group, and there was statistical significance between two groups (t=11.077,P<0.01). The ulcer happened 2 cases in experimental group and 7 cases in control group (P>0.05).Conclusions For patients with lateral position applied position management process in Department of Neurosurgery, it can improve work efficacy, reduce the complications of perioperative circulatory system, ulcer happened.

OBJECTIVE:To observe the efficacy and safety of azithromycin sequential therapy combined with terbutaline in the treatment of mycoplasma pneumonia. METHODS:130 children with mycoplasma pneumonia were randomly divided into control group and observation group. Control group was given azithromycin sequential therapy by using 10 mg/kg Azithromycin dispersible tablet by intravenous infusion,once a day,for continuous 3-5 d,then rested for 4 d,and then given 10 mg/kg Azithromycin dis-persible tablet at a draught,once a day,for continuous 3 d,then rested for 4 d;observation group was additionally given 2.5 mg Terbutaline injection adding into 5 ml sodium chloride injection by inhalation via oxygen atomization,twice a day,10-15 min ev-ery times,and then the children were fed with warm boiled waterafter atomization. The treatment course for both groups was 4 weeks. Clinical efficacy,and changes of cytokines levels [tumor necrosis factor-α(TNF-α),interleukin-6 (IL-6),IL-8],disap-peared time of related symptoms and signs (wheezing,rales,coughing,fever),hospitalization time before and after treatment, and incidence of adverse reactions in 2 groups were observed. RESULTS:After treatment,the effective rate in observation group was significantly higher than control group,levels of TNF-α,IL-6 and IL-8 were significantly lower than control group,disap-peared time of related symptoms and signs and hospitalization time were significantly shorter than control group,the differences were statistically significant(P<0.05). There was no significant difference in the incidence of adverse reactions between 2 groups (P>0.05). CONCLUSIONS:Azithromycin sequential therapy combined with terbutalineaerosol therapycan effectively improve the cytokines levels and clinical efficacy,with good safety.