Objective To observe the alteration of thoracic and lumbar physiological curvature in adolescent idiopathic scoliosis(AIS)and the difference of physiological curvature between different types of scoliosis.Methods A retrospective analysis was conducted on 305 adolescent patients taken full spine X-ray in our hospital from January 2017 to December 2021.The patients were divided into normal group and scoliosis group.The normal group was composed of 179 patients,79 males and 100 females,aged 10 to 18 years old with an average of(12.84±2.10)years old,with cobb agle less than 10 degrees.The scol-iosis group was composed of 126 patients,33 males and 93 females,aged 10 to 18 years old with an average of(13.92±2.20)years old.The gender,age,Risser sign,thoracic kyphosis(TK)and lumbar lordosis(LL)in 2 groups were compared,and the TK and LL were also compared between different genders,different degrees of scoliosis and different segments of scoliosis.Re-sults The female ratio(P=0.001)and age(P＜0.001)in scoliosis group were higher than them in normal group;the ratio of low-grade ossification was higher in normal group than in scoliosis group(P=0.038).TK was significantly smaller in scoliosis group than in normal group(P＜0.001),but there was no significant difference in LL between the 2 groups(P=0.147).There were no significant difference in TK and LL between male and female.The TK was significantly bigger in mild AIS patients than in moderate AIS patients(P＜0.05),but there was no significant difference in LL between mild and moderate patients(P＞0.05).The TK and LL in different segments scoliosis were not found significant difference.Conclusion The physiological curvature of thoracic and lumbar spine is independent of gender.The thoracic physiological curvature becomes smaller in AIS patients,but lumbar curvature remains unchanged.The thoracic physiological curvature in mild AIS patients is greater than that in moderate AIS patients,but the lumbar curvature is almost unchanged between mild and moderate scoliosis and is similar with that in normal adolescent.The alteration of thoracic and lumbar physiological curvature in AIS patients may be related to relative an-terior spinal overgrowth,and the specific detailed mechanism needs to be further studied.

Objective To develop a nurse-patient interaction integrated APP"NET Home"to provide detailed care and follow-up management for patients with neuroendocrine tumors(NENs)trea-ted with long-acting octreotide.Methods"NET Home"APP included three ports:patient side,medical side and management side.After discharge,NENs patients timely and comprehensive fed back on adverse reactions and discomfort symptoms through APP,and medical staff timely guided patients to deal with them online.Results At 1 year after"NET Home"APP application,45 patients registered(injected with long-acting octreotide once every 28 days).A total of 145 copies of Micro-nutrition Evaluation Scales,147 Tumor Patients'Quality of Life Rating scales,102 Pain Digital Evaluation Scales,103 Adverse Reactions Questionnaire of Long-acting Octreotide Injection,102 Self-care Ability Scales,111 Self-rating Scales for depression and 102 Self-rating Scales for anxiety were collected.The medical staff treated 5 cases of adverse reactions by APP,and gave timely handling to 1 case of severe adverse reactions(the patient eventually stopped long-acting octreotide therapy).Compared with NENs patients who did not use APP,anxiety scores of NENs patients who used APP decreased(P＜0.05);their satisfaction scores and quality of life scores were improved,and the number of unplanned admissions decreased,but the differences showed no statistically significant(P＞0.05).Conclusion"NET Home"APP can realize refined and personalized nursing intervention through multiple module functions,which can realize continuous home care for NENs patients,relieve their anxiety and improve their self-management ability,quality of life and treatment compliance.

Objective To develop a nurse-patient interaction integrated APP"NET Home"to provide detailed care and follow-up management for patients with neuroendocrine tumors(NENs)trea-ted with long-acting octreotide.Methods"NET Home"APP included three ports:patient side,medical side and management side.After discharge,NENs patients timely and comprehensive fed back on adverse reactions and discomfort symptoms through APP,and medical staff timely guided patients to deal with them online.Results At 1 year after"NET Home"APP application,45 patients registered(injected with long-acting octreotide once every 28 days).A total of 145 copies of Micro-nutrition Evaluation Scales,147 Tumor Patients'Quality of Life Rating scales,102 Pain Digital Evaluation Scales,103 Adverse Reactions Questionnaire of Long-acting Octreotide Injection,102 Self-care Ability Scales,111 Self-rating Scales for depression and 102 Self-rating Scales for anxiety were collected.The medical staff treated 5 cases of adverse reactions by APP,and gave timely handling to 1 case of severe adverse reactions(the patient eventually stopped long-acting octreotide therapy).Compared with NENs patients who did not use APP,anxiety scores of NENs patients who used APP decreased(P＜0.05);their satisfaction scores and quality of life scores were improved,and the number of unplanned admissions decreased,but the differences showed no statistically significant(P＞0.05).Conclusion"NET Home"APP can realize refined and personalized nursing intervention through multiple module functions,which can realize continuous home care for NENs patients,relieve their anxiety and improve their self-management ability,quality of life and treatment compliance.

Objective: To investigate the spatio-temporal distribution characteristics of pulmonary tuberculosis in Ningbo City from 2015 to 2020, so as to provide insights into tuberculosis control. Methods: The data of pulmonary tuberculosis cases in Ningbo City from 2015 to 2020 were collected from Tuberculosis Management Information System of China Disease Control and Prevention Information System, and were linked with the geographic information database of Ningbo Planning Design and Research Institute. The software SaTScan version 10.3 was employed for monthly spatio-temporal scanning and cluster analysis of reported pulmonary tuberculosis cases, populations, longitude and latitude in 153 townships of Ningbo City from 2015 to 2020. Results: There were one class Ⅰ cluster and two class Ⅱ clusters of pulmonary tuberculosis cases in Ningbo City from 2015 to 2020, and the class Ⅰ cluster was centered in Song'ao Township and covered 37 townships, with aggregation time from January 1, 2015 to December 31, 2017, while class Ⅱ clusters were covered 38 tounships which were centered in Sanqishi Township of Yuyao County, and one township in Hangzhou Bay New Town. The aggregation time was from January to June in 2015 and 2016, from March to August between 2017 and 2019 and between May and October, 2020. The overall reported incidence of pulmonary tuberculosis appeared a tendency towards a decline in each township of Ningbo City from 2015 to 2020; however, the incidence of pulmonary tuberculosis was more than 80 per 100 thousand in Fuming Township of Yinzhou District and Juexi Township of Xiangshan County in 2020. Conclusions There were significant spatio-temporal clustering characteristics of pulmonary tuberculosis incidence at a township level in Ningbo City from 2015 to 2020, and the clusters were mainly concentrated in the central and eastern Ningbo City. The reported incidence of pulmonary tuberculosis is high in Fuming Township of Yinzhou District and Juexi Township of Xiangshan County, where targeted regional tuberculosis control strategies should be implemented.

Objective:To analyze clinical characteristics and genetic characteristics of children with ATP sensitive potassium passage (K ATP-HI). Methods:Forty-five children with genetically confirmed K ATP-HI and their families admitted to Beijing Children′s Hospital of Capital Medical University between February 2002 and December 2018 were selected as the study subjects. A detailed retrospective analysis of the patient's clinical characteristics, diagnosis and treatment process, disease-causing gene carrying status and later follow-up data was performed. ABCC8/KCNJ11 gene was sequenced by second-generation sequencing technology. Results:Among 45 children with K ATP-HI, 34 cases (75.6%) were neonatal onset, the first symptoms of 21 cases (46.7%) were convulsions. 39 cases had been treated with diazoxide, including 12 cases (30.8%) with good efficacy, 16 cases (41%) with poor efficacy and 11 cases with uncertain efficacy. Octreotide was further applied in 18 patients with uncertain or ineffective efficacy after diazoxide treatment, and 13 cases (72.2%) were effective, 3 cases were ineffective, and 2 cases were uncertain. 10 CHI patients who were ineffective to drug treatment or had clearly focal lesions confirmed by 18F-dopa positron emission by computed tomography ( 18F-DOPA PET) scans had undergone surgical treatment, 8 of which underwent partial pancreatectomy and blood glucose returned to normal after the operation; the other 2 cases underwent subtotal pancreatectomy and both had secondary diabetes after operation. Among 45 children with K ATP-HI, 1 case carried both ABCC8 and KCNJ11 mutations, 10 cases carried ABCC8 compound heterozygous mutations, and the remaining 34 cases carried ABCC8/KCNJ11 single genetic mutation. Among them, 21 cases had paternal inheritance, and 3 cases had maternal inheritance, 6 cases were identified with de novo mutations. Conclusions:Diazoxide treatment was ineffective for most K ATP-HI children, but octreotide had a higher effective rate. Partial pancreatectomy for focal type patients had a higher cure rate, and there was a risk of secondary diabetes after subproximal pancreatectomy, so it was very important to clarify the histological type of children before surgery. ABCC8 gene mutations and KCNJ11 gene mutations were the main pathogenic genes of K ATP-HI. Among patients carrying mutations in single ABCC8 or KCNJ11 gene mutation, K ATP-HI inherited by paternity were the majority. Some K ATP-HI children can relieve the hypoglycemia symptoms by themselves.

Hypertension is a kind of chronic cardiovascular system disease caused by a series of factors and carriers dysfunction, which belongs to the category of Tibetan medicine "Chalong disease", and has a high rate of disability and mortality. Zuomua Decoction is a classical Tibetan medicine for Chalong disease, but its mechanism is not clear. Therefore, in this paper we explored the multi-components, multi-targets and multi-channels mechanism of Zuomua Decoction in the treatment of hypertension based on network pharmacology and molecular docking technology. First of all, the chemical components of Zuomua Decoction were obtained in the retrieval of traditional Chinese medicine systems pharmacology database(TCMSP), China National Knowledge Infrastructure(CNKI) and Wanfang database. The potential targets of Zuomua Decoction were predicted by BATMAN-TCM database, and the targets of hypertension were obtained by using DisGeNET database. The intersection of these two targets set was taken to obtain the potential targets of Zuomua Decoction in the treatment of hypertension, and then the chemical compositions-targets network was constructed. Secondly, the intersection targets were imported into STRING database to obtain the interaction relationship of intersection targets, and the protein interaction network of Zuomua Decoction in the treatment of hypertension was constructed in Cytoscape. Topological, GO, and KEGG enrichment analysis were used to construct the key targets-signal pathways-biological processes network diagram and explore the mechanism of Zuomua Decoction in the treatment of hypertension. Finally, the key targets were selected to construct the pharmacodynamic identification models to verify the effect mode of Zomua Decoction in treating hypertension. The results showed that there were 61 chemical components and 90 potential targets in the compounds-targets network. We obtained 21 key targets, 154 signal pathways, and 382 biological processes in topological, GO, and KEGG enrichment analysis of the protein interaction network, and in the comprehensive analysis, it was found that Zuomua Decoction could reduce blood pressure by regulating renin angiotension aldosterone system, balancing the concentration of intracellular calcium and sodium ions and regulating vasoconstriction and relaxation. ACE, AGTR1, and ADRB2 were used as the carriers for molecular docking study on the components of Zuoma Decoction, and the results showed that the chemical components of Zuomua Decoction had a good binding activity with key targets. The purpose of this study is to provide ideas for the in-depth study of Zuoma Decoction in the treatment of hypertension, and provide scientific basis for its clinical rational application.
Antihypertensive Agents ; China ; Drugs, Chinese Herbal ; Humans ; Hypertension/drug therapy* ; Medicine, Tibetan Traditional ; Molecular Docking Simulation ; Technology

Objective: To summarize the clinical characteristics of 6 children with Hutchinson-Gilford progeria syndrome, and to analyze the pathogenic genes carried by some patients. Methods: The clinical data of 6 patients were summarized. The pathogenic genes of 4 families were analyzed. Genomic DNA was extracted from 3ml of the subject′s blood with EDTA anticoagulation. The first-generation sequencing technology was used to analyze the sequence of Lamin A/C(LMNA) gene and to identify the pathogenic mutation sites by comparing with normal sequencing results. Results: All the children had typical clinical manifestations of the disease which has been previously reported in the literature, such as severe growth retardation, special skin manifestations, and distinctive craniofacial manifestations.Gene sequencing results revealed that 2 patients carried classical heterozygous mutation of LMNA c. 1824C>T(p.G608G). The other two patients carried atypical mutations of LMNA IVS8-4 C>A and c. 1968+ 2T>C, among which the mutation of IVS8-4 C>A has not been reported. Conclusions In Chinese children, both classical and non-classical mutations in LMNA gene lead to the occurrence of premature aging. It is easy to make a diagnosis based on clinical manifestations. Finding of the pathogenic gene may further confirm the diagnosis.

Objective To analyze the clinical characteristics and gene mutations of 56 patients with congenital hyperinsulinism(CHI)and to provide a theoretical basis for clinical diagnosis and treatment of CHI.Methods Fifty-six children who were diagnosed as CHI between February 2002 and January 2016 in Beijing Children's Hospital Affiliated to Capital Medical University were selected as research subjects.A retrospective study was done about the clinical data and the treatment procedures of the 56 patients,such as perinatal conditions,clinical manifestations,laboratory data,treatments,prognosis and so on.Polymerase chain reaction(PCR)-DNA technology or next-generation sequencing technology was used to analyze the CHI relevant genes of the 56 patients.Results Thirty of the 56 patients carried CHI gene mutation.(1)Twenty-three of 56 patients(41.0％)carried ABCC8/KCNJ11 gene mutations:4 of 23 patients carried complex heterozygous mutation,1 of 23 patients carried both ABCC8 and KCNJ11 gene mutation,1 of 23 patients carried maternally inherited ABCC8 gene mutation,12 of 23 patients carried paternally inherited ABCC8 gene mutation,1 of 23 patients carried paternally inherited KCNJ11 gene mutation,3 of 23 patients carried de novo ABCC8 gene mutation,1 of 23 patients had unknown genetic way,19 of 23 patients were treated with Diazoxide,2 of 19 patients were responsive to Diazoxide,7 of 19 patients were unresponsive to Diazoxide and 10 of 19 patients were uncertain to Diazoxide.(2)Five of 56 patients(8.9％)carried GLUD1 gene mutation,4 of 5 patients were treated with Diazoxide and they were all responsive to Diazoxide.(3)One of 56 patients(1.7％)carried de novo GCK gene mutation,responsive to Diazoxide treatment.(4)One of 56 patients(1.7％)carried maternally inherited SLC16A1 gene mutation,responsive to Diazo-xide treatment.Conclusions The ABCC8 gene and GLUD1 gene mutation are the main causative genes of CHI.The GCK gene and SLC16A1 gene mutation are in the minority.Most ABCC8 gene and KCNJ11 gene mutation are unresponsive to Diazoxide treatment.

In the era of (pre) elimination setting, the prevalence of malaria has been decreasing in most of the previously endemic areas. Therefore, effective cost- and time-saving validated pooling strategy is needed for detection of malaria in low transmission settings. In this study, optimal pooling numbers and lowest detection limit were assessed using known density samples prepared systematically, followed by genomic DNA extraction and nested PCR. Pooling strategy that composed of 10 samples in 1 pool, 20 µl in 1 sample, was optimal, and the parasite density as low as 2 p/µl for both falciparum and vivax infection was enough for detection of malaria. This pooling method showed effectiveness for handling of a huge number of samples in low transmission settings (<9% positive rate). The results indicated that pooling of the blood samples before DNA extraction followed by usual nested PCR is useful and effective for detection of malaria in screening of hidden cases in low-transmission settings.
DNA* ; Limit of Detection ; Malaria* ; Mass Screening ; Methods ; Parasites ; Plasmodium falciparum ; Plasmodium vivax ; Polymerase Chain Reaction ; Prevalence

Objective To screen the mutation of KATP channel mutations in Chinese pedigrees with infantile onset type 1 diabetes mellitus (T1DM) and neonatal diabetes mellitus.Methods A cohort of 12 children of infant onset T1DM and neonatal diabetes mellitus admitted into Beijing Children's Hospital between March 2004 and June 2013 were selected.PCR amplification and direct sequencing were used to analyze the 39 exons of ABCC8 gene and one exon of KCNJ11.And the mutational sites of the parents of the probands was sequenced in order to identify the inheritance.Results Analysis revealed ABCC8 mutation in 25％ (3/12 cases) of the patients,a case of transient neonatal diabetes (TNDM),a case of permanent neonatal diabetes mellitus (PNDM) and a case of infant onset T1DM.All positive patients showed a known heterozygosis mutation in the ABCC8 gene(R1182Q,c.3545G ＞ A,D209E,c.627C ＞ G,E208K c.622G ＞ A).The residue R1182Q,which was located at a position involved in joining transmembrane domain 2 to nucleotide binding domain 2,the mutations E208K and D209E were located in the intracellular region that links the transmembrane domain with the gatekeeper module.All the three mutations were located throughout the cytoplasm part of SUR1 protein.The TNDM successfully transferred from insulin to oral sulfonylureas therapy.Conclusions There is a complex genetic pathogenesis in neonatal and infant-onset diabetes.The KATP channel activating mutations is one of the main causes of neonatal diabetes mellitus and may cause T1DM in infants in China.Oral Glibenclamide therapy seems highly effective for some patients with the KATP channel activating mutations.