Objective:To analyze the clinical characteristics of a case of CNNM2 gene heterozygous mutation causing hypomagnesemia epilepsy mental retardation (HOMGSMR1) [MIM: 616418] in a child, and explore the association between genotype and phenotype.Methods:We followed up and retrospectively analyzed the clinical characteristics of a case of HOMGSMR1 caused by CNNM2 gene heterozygous mutation treated at Maternal and Child Health Care Hospital of Liuyang. Through whole exome sequencing of the family and bioinformatics analysis of the original data, we consulted databases and literature materials such as Online Mendelian Inheritance in Man (OMIM), ClinVar, gnomAD, GeneReviews, Pubmed, and China National Knowledge Infrastructure (CNKI), The American College of Medical Genetics and Genomics (ACMG) guidelines were used to rate heterozygous deletion mutations in the locked CNNM2 gene.Results:Patient, male, 3 months and 18 days old, mother gave birth to 1 child with 1 pregnancy, recurrent convulsions for more than 10 days, and multiple tests showed that blood magnesium levels were below normal, fluctuating between 0.51-0.55 mmol/L; After oral administration of " oxcarbazepine" and " magnesium sulfate", convulsions improved and blood magnesium concentration increased, but remained below normal, with the highest being 0.61 mmol/L. The sequencing results of the whole exome display of the family showed that the child carried a heterozygous deletion mutation in the exon region of the CNNM2 gene (c.838_843delATGGCCp. M280-A281del), which was not detected in their parents, indicating a new mutation. The large-scale population frequency database gnomAD did not include this mutation, and no literature reported this mutation. According to the ACMG guidelines, it was rated as a suspected pathogenic variant. The pathogenic variation of this gene can lead to autosomal dominant HOMGSMR1, which was consistent with genetic patterns.Conclusions:CNNM2 gene c. 838_ 843delATGGCC (p.M280_A281del) is a suspected pathogenic variant in this patient, with genotype and phenotype matching and heterozygous mutations following genetic patterns. Autosomal dominant inheritance is the molecular cause of clinical manifestations in this patient, and it is an unreported novel mutation.

Objective:To summarize the research status and contents of the needs of breast cancer patients undergoing first operation.Methods:The articles related to the needs of patients undergoing first surgery for breast cancer were searched by computer in PubMed, Cochrane Library, Web of Science, Embase, China National Knowledge Infrastructure, Wanfang Database, VIP and China Biology Medicine disc. The search period was from January 1, 2013 to December 31, 2022.Results:A total of 17 articles were included, and the research design mainly focused on qualitative and observational studies. Breast cancer patients with first operation had a high degree of demand, and the demand content was diverse, mainly including information needs, health guidance needs, emotional needs and social support needs. The needs of breast cancer patients with different ages and different treatment stages were different.Conclusions:It is suggested that a personalized needs intervention plan should be formulated to meet the diversified needs of breast cancer patients.

Objective:To investigate the effects of ear holographic tongbian scraping on the constitution, related symptoms and immune function of the population with Qi-deficiency.Methods:From April 2020 to June 2020, 80 subjects judged as Qi-deficiency by the "Traditional Chinese Medicine constitution test" in Suzhou Traditional Chinese Medicine Hospital Affiliated to Nanjing University of Chinese Medicine were recruited offline and online. They were divided into control group and experimental group by random number table method, with 40 cases in each group. On the basis of online health education, the control group received online health education, while the experimental group was given ear holographic tongbian scraping, once a week, 4 times as a course of treatment, a total of 3 courses. Related symptom scores, Qi-deficiency transformation scores, peripheral blood CD4 + proportion, CD8 + proportion, CD4 +/CD8 + ratio were compared between two groups. Results:Totally 38 cases were included in experimental group and 34 cases in control group. After intervention, symptom scores of fatigue, shortness of breath, easy to catch a cold, laziness to speak, low voice and Qi-deficiency transformation scores were 3.26 ± 0.76, 2.92 ± 0.82, 3.08 ± 0.82, 2.66 ± 0.97, 2.71 ± 0.80, 46.16 ± 17.96 in experimental group and 4.12 ± 0.41, 3.76 ± 0.55, 3.50 ± 0.56, 3.65 ± 0.65, 3.18 ± 0.67, 56.88 ± 10.80 in control group, the differences were statistically significant ( t values were -6.02 - -2.51, all P<0.05). Peripheral blood test results also showed that the proportion of CD8 + was 24.76(19.92, 28.23)% in experimental group and 27.19(24.39, 31.57)% in control group, the difference was statistically significant ( Z=-2.25, P<0.05). Conclusions:Ear holographic tongbian scraping can regulate the Qi-deficiency constitution and improve the immune function of people with Qi-deficiency.

ObjectiveTo study the clinical efficacy of dapagliflozin combined with Shexiang Baoxinwan （SXBXW） in the treatment of acute heart failure with reduced ejection fraction （HFrEF） and syndrome of Qi deficiency and blood stasis. MethodA total of 176 patients hospitalized due to acute HFrEF （syndrome of Qi deficiency and blood stasis） were selected and randomized into control group， SXBXW group， dapagliflozin group， and SXBXW + dapagliflozin group （the latter three groups were called the intervention groups）. The New York Heart Association （NYHA） class， 6-minute walk test （6MWT） score， Kansas City Cardiomyopathy Questionnaire （KCCQ） score， traditional Chinese medicine （TCM） syndrome score， N-terminal pro-brain natriuretic peptide （NT-proBNP）， soluble suppression of tumorigenicity 2 （sST2）， interleukin-6 （IL-6）， and hypersensitive C-reactive protein （hs-CRP） of the patients were evaluated and measured at the time of admission， 1 week after treatment， and 2 weeks of treatment. Furthermore， the hospital stay， in-hospital mortality， and 30-day re-admission rate were recorded. Statistical analysis was performed to evaluate the efficacy of each group. ResultAfter 1 week of treatment， the SXBXW group exhibited superior NYHA class， KCCQ score， TCM syndrome score and curative effect， IL-6， and hs-CRP to the control group （P<0.05， P<0.01）. After 2 weeks of treatment， the SXBXW group showed superior TCM syndrome score， TCM curative effect， and hs-CRP （P<0.05， P<0.01） to the control group. The dapagliflozin group was superior to the control group in terms of TCM syndrome score， NT-proBNP， and sST2 （P<0.05， P<0.01） after 1 week of treatment and in terms of NYHA class， KCCQ score， NT-proBNP， sST2， and hospital stay （P<0.05， P<0.01） after 2 weeks of treatment. The SXBXW + dapagliflozin group exhibited better efficacy than the control group in terms of NYHA class， 6MWT score， KCCQ score， TCM syndrome score and curative effect， NT-proBNP， sST2， IL-6， and hs-CRP （P=0.014） after 1 week of treatment and in terms of NYHA class， KCCQ score， TCM syndrome score and curative effect， NT-proBNP， sST2， IL-6， hs-CRP， and hospital stay （P<0.01） after 2 weeks of treatment. ConclusionSXBXW and dapagliflozin have good therapeutic effect on acute HFrEF and syndrome of Qi deficiency and blood stasis， and their combination demonstrated better therapeutic effect， with good safety and tolerability.

Objective:To systematic review the efficacy and safety of external application of traditional Chinese medicine on treatment of breast cancer related lymphedema.Methods:CNKI, Wanfang Data, VIP, Sino-Med, The Cochrane Library, PubMed, Web of Science were searched for related randomized controlled trials, the retrieval time was from inception to May 25, 2020. Two researchers independently screened and evaluated the included studies. Meta-analysis was performed by RevMan 5.4 software.Results:A total of 16 studies involving 1 315 patients with breast cancer related lymphedema were included, and the methodological quality of the included studies was not high. Compared with conventional treatment, external application of traditional Chinese medicine combined with conventional treatment had advantages in improving the total efficiency( P<0.01) and quality of life( P<0.01), reducing pain( P<0.01) and improving upper limb function( P<0.01), without obvious adverse reactions( P>0.05), but there was no improvement in depression( P>0.05). Compared with conventional treatment, external application of traditional Chinese medicine could improve the total efficiency( P<0.01). Compared with placebo sticker combined with conventional treatment, external application of traditional Chinese medicine combined with conventional treatment can reduce circumference( P<0.05) and reduce pain( P<0.01), without obvious adverse reactions( P>0.05). Conclusions:Available evidence suggests that external application of traditional Chinese medicine may be a potential treatment method for breast cancer related lymphedema. Due to the poor methodological quality of the included studies, high-quality randomized controlled trials are still needed.

Objective: To explore the age related increases and characteristics of static stance balance and control strategies of 3-6 years old preschool children,and to provide a reference for the research of children s physique and the practice of physical education. Methods: Using a 2×2×3 (proprioceptive×visual×age) three factor experimental design, standing balance was tested among 105 preschool children aged 3-6 years who were subjected to static for 15 s under four standing postures from January to March 2018. Quantitatively examine the static stance balance ability based on changes in the center of pressure (COP), and quantitatively examine the posture control strategy based on COP frequency domain analysis and nonlinear analysis. Results: Among children aged 3-, 4- and 5-6 years old under the condition of open eyes / hard ground AP_ MV and ML_ MV were 18.05, 16.00, 13.40; 13.55, 11.03, 10.12 mm/s respectively; Under the condition of closed eyes/hard ground, children in three age groupsAP_ MV and ML_ MV were 21.01, 19.60, 15.10; 12.20, 10.20, 10.00 mm/s respectively among three age groups of children. The results showed that the sloshing amplitude and average sloshing velocity decrease significantly with age( P <0.01). Under the conditions of open/hard ground and closed/hard ground, the high frequency band in the left-right direction and the low frequency band in the anterior posterior direction increased significantly with age ( P <0.01). Under the condition of open eyes/hard ground, three age groups of AP_ MF and AP_ HF among three age groups of children were 29.00, 28.61, 27.20； 7.45, 7.44 6.01, respectively, indicating that the middle and high frequency bands ( P <0.01) in the anterior posterior direction decreased significantly with age. ML_FD of children aged 3-, 4- and 5-6 years old under the condition of open eyes / hard ground and closed eyes / hard ground was 1.43, 1.44, 1.52; 1.49, 1.48, 1.56/mm, AP_ FD was 1.58, 1.56, 1.52; 1.56, 1.63, 1.61; AP_MSE was 6.81, 6.90, 5.61 ; 7.25 , 7.41,6.60，respectively. The results show that the fractal dimension in the left right direction increases significantly with age, while the fractal dimension and multi scale entropy in the front back direction decrease significantly( P <0.01). Conclusion The static stance balance ability of 3-6 years old preschool children shows non linear changes with age,the static posture balance ability of 5-6 years old preschool children is significantly better than that of 3-5 years old , and the balance control strategies of 5-6 years old preschool children is different from that of 3-5 years old.

Objective:To explore the development status and research hotspots of international mobile medical application, so as to provide references for domestic research on mobile medical applications.Methods:We systematically searched English documents included in the Web of Science core database from 2009 to 2019, and the document type was the article. CiteSpace (V.5.6.R2 version) software was used to visually analyze research institutions, source journals, cited documents and keywords of international mobile medical applications.Results:A total of 4 705 documents were included. Research on international mobile medical applications continued to increase. The institution and journal with the most publications were the University of Washington and JMIR Mhealth and Uhealth respectively. Through the keyword co-occurrence clustering of related literature, four research hotspots were obtained: the feasibility study of mobile medical applications, the intervention research of mobile medical applications, disease management and self-care, and the evaluation of mobile medical applications. Conclusions:In order to promote the development of mobile medical application in China, it is recommended that future researchers should pay attention to the research result of international authoritative institutions and journals in a timely manner, learn from the knowledge base of international mobile medical application research, and explore the road of application development in line with my country's national conditions.At the same time, it is necessary to standardize the design of research programs, carry out high-quality intervention research, and build my country's mobile medical application evaluation system as soon as possible.

This paper reviews the literature about the common complications, evaluation tools and intervention measures of free flap repair for tongue cancer patients at home and abroad, summarizes the current research status, and points out that the nursing plan of free flap repair for tongue cancer patients needs to be further standardized, and needs to carry out evidence-based clinical research.

To study the salivary cortisol level, and to analyze the correlation between salivary cortisol and peri-abortion depression in the women suffering termination of pregnancy for fetal anomaly.
 Methods: Comparing the difference in salivary cortisol level between the women with and without depression when they underwent termination of pregnancy for fetal anomaly in a prospective cohort study. Analyzing the correlation between salivary cortisol and peri-abortion depression through logistics regression analysis.
 Results: The salivary cortisol awakening response was lower in women with depression than women without depression. Based on the logistics regression analysis, the salivary cortisol awakening response showed a negative correlation with pre-abortion (OR=0.063, 95% CI 0.005 to 0.754) and post-abortion (OR=0.002, 95% CI 0.000 to 0.061) depression.
 Conclusion: Cortisol awakening response possesses a negative correlation with peri-abortion depression, and it is a predictive factor for post-abortion depression.
Depression ; Depressive Disorder ; metabolism ; Female ; Humans ; Hydrocortisone ; metabolism ; Pregnancy ; Prospective Studies ; Saliva ; metabolism

Objective Using of cumulative live birth rate(CLBR)per oocytes retrieved cycle,to assess the clinical outcomes of in vitro fertilization or intracytoplasmic sperm injection(IVF/ICSI),and to explore impact factors on CLBR following utilization of all fresh and frozen embryos in one complete IVF/ICSI cycle using gonadotropin-releasing hormone(GnRH)agonist, GnRH-antagonist and clomiphene mild stimulation protocols. Methods Of the patients who underwent IVF/ICSI from January 1st, 2014 to December 31st, 2015 in the First Affiliated Hospital, Nanjing Medical University, a total of 6 142 oocytes retrieved cycles were included. The clinical and laboratory parameters of different ovarian stimulation protocols, and the effects of the age, number of oocytes retrieved and number of embryos available on the CLBR of each oocytes retrieved cycle were analyzed.Results The CLBR was 69.0%(2 004/2 906)in the GnRH-agonist protocol versus 67.4%(644/955)in the GnRH-antagonist protocol (P>0.05); the CLBR of clomiphene mild stimulation protocol was 53.2%(1 215/2 281),significantly lower than those of the other two protocols (all P<0.05). The CLBR significantly decreased with age increased. When divided into four groups according to the patients′ age, we found that CLBR were not statistically significant using three different protocols in the 20-25 years old group(all P>0.05).There was a strong association between the number of oocytes retrieved and embryos available on CLBR. CLBR rose significantly with an increasing number of oocytes up to 6, then the rising trend slowed down. Patients were categorized into four groups according to the number of oocytes retrieved,CLBR was significantly higher using GnRH-antagonist protocol (50.0%)than mild stimulation protocol(37.0%)in low ovarian responder(0-4 oocytes)group(P<0.05). The CLBR were no significant difference among three protocols in normal(10-15 oocytes)and high responders(≥15 oocytes)group(all P>0.05).The incidence rate of ovarian hyperstimulation syndrome in GnRH-agonist protocols(5.2%,152/2 906)were significantly higher than those of GnRH-antagonist(4.4%, 42/955)and clomiphene mild stimulation protocols(1.5%,34/2 281;all P<0.05).Conclusions CLBR is an important index to assess the clinical outcomes of IVF/ICSI. Age, number of oocytes retrieved and embryos available could affect CLBR obviously. According to the different age and ovarian response of patients, we should design ovarian stimulation protocols based on target oocytes number in order to get higher CLBR and reduce complications.