PurposeTo assess the level of agreement and interchangeability among Excel and CMRtools (2012) for calculation of T2* values in iron overload.Materials and Methods T2* images in 27 cases withβ-thalassemia major were imported into CMRtools (2012). The regions of interest (ROI) were drawn and interference signal removed to obtain T2* values. The T2* images were also measured using default MR software and manually entered into Excel to obtain T2* values after removal of the interference signal. The agreement between the two methods in calculating T2* values was compared.Results For 27 patients withβ-thalassemia major, 10 cases showed myocardial iron overload. 25 cases had liver iron overload. The T2* values from two methods were not statistically significant (t=-0.152 and-0.691,P>0.05) for the liver.Conclusion There is good agreement and interchangeability between Excel and CMRtools (2012) in calculating T2* values. Excel can be used clinically to evaluate iron overload.

Objective To observe the changes of glycocholic acid (CG) and evaluate the diagnostic value of CG combined with total bile acid (TBA) and leucine aminopeptidase (LAP) in various liver diseases.Methods From October 2016 to March 2017,210 serum samples of healthy people,asymptomatic hepatitis B virus (HBV) infected,hepatitis,biliary obstruction,hepatocirrhosis and primary hepatocellular carcinoma patients were collected.CG and LAP were detected by corresponding kits,and liver function,coagulation function and other indicators of patients were collected and analyzed statistically.Results The serum level of CG were elevated in the 4 liver disease groups and differed statistically from the normal group or the asymptomatic HBV infected group.CG level was positively correlated with LAP (r =0.380,P ＜ 0.01).In liver function indexes,CG was correlated with total bilirubin (TB),direct bilirubin (DB),TBA and alkaline phosphatase (AKP).At the same time,CG was correlated with fibrinogen(Fib),thrombin time(TT).LAP and TBA were introduced into regression equation Y =-0.835 + 0.157X1 +0.312X2 (X1:LAP,X2:TBA,R2 =0.685) as final variables in multivariate linear regression to analyse the influencing factors of CG.Receiver operator characteristic (ROC) curve analysis showed that CG had the strongest ability to diagnose liver diseases in combination with LAP.Conclusions The change of CG level is of great significance in all kinds of liver diseases.The combination of LAP has the strongest ability to diagnose liver diseases.

Objective To explore the relationship between urinary iodine level and breast cancer,we compare urinary iodine excretion levels in patients with breast cancer,benign breast disease,other female malignant tumors and control subjects in Xiangya Hospital of Central South University.Methods From December 2018 to January 2019,64 patients with newly diagnosed breast cancer in Xiangya Hospital of Central South University were selected as case group,benign breast disease group (n =49),other female malignant tumor group (n =39) and health examination group (n =50) as control group.Urinary iodine was determined by colorimetry.According to the urinary iodine level the patients divided into three groups:iodine excess (＞300 μg/L),medium iodine (100-300 μg/L) and iodine deficiency (＜ 100 μg/L).The relationship between urinary iodine and clinicopathology of breast cancer was analyzed.Results The level of urinary iodine in benign breast nodule group 319.13 (163.98) μg/L ＞ breast cancer group 273.96 (151.30) μg/L ＞ female other malignant tumor group 212.95 (161.71) μg/L ＞ normal control group 199.15 (194.45) μg/L,with significantly differance (H =9.936,P =0.019).Urinary iodine level in the normal control group was significantly lower than that in the benign breast disease group (P =0.013).The patients were further divided into three groups according to the urinary iodine level:iodine excess,iodine medium and iodine deficiency,the number of urine iodine ＜ 100 μg/L in the normal control group was significantly higher than that in the breast cancer group (P =0.021).The level of urinary iodine was negatively correlated with the size of the primary focus of breast cancer (Z =-2.307,P =0.021).The effect of urinary iodine was analyzed by multiple linear regression method.The size of primary focus was included in the regression equation (R2 =0.136,P=0.007),but had nothing to do with lymph node metastasis and the expression status of estrogen receptor (ER),androgen receptor (AR),progesterone receptor (PR) and human epidermal growth factor receptor-2 (HER-2).Conclusions There is a negative linear correlation between urinary iodine level and the size of primary focus of breast cancer,but it has nothing to do with lymph node metastasis and the expression of ER,AR,PR and HER-2.

This article reviewed the present situation of the research on the relationship between the number of nursing staff, education level, skill combination and patient safety at home and abroad, as well as the indirect mechanism of nursing manpower factors on patient safety through intermediary factors such as working environment, attendance, nursing lack and so on. In view of the problems existing in domestic research, some suggestions were put forward, such as carrying out longitudinal and intervention research on patient safety, optimizing the allocation of nursing human resources and patient safety indicators, exploring the mechanism of multiple nursing factors and patient safety and conducting empirical analysis. To provide reference for hospital managers to improve nursing quality and ensure patient safety.

OBJECTIVE: To explore the genetic etiology of a child with Pitt-Hopkins syndrome. METHODS: A child who had presented at the Medical Genetics Center of Gansu Provincial Maternal and Child Health Care Hospital on February 24, 2021 and his parents were selected as the study subjects. Clinical data of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to trio-whole exome sequencing (trio-WES). Candidate variant was verified by Sanger sequencing. Karyotype analysis was also carried out for the child, and her mother was subjected to ultra-deep sequencing and prenatal diagnosis upon her subsequent pregnancy. RESULTS: The clinical manifestations of the proband included facial dysmorphism, Simian crease, and mental retardation. Genetic testing revealed that he has carried a heterozygous c.1762C>T (p.Arg588Cys) variant of the TCF4 gene, for which both parents had a wild-type. The variant was unreported previously and was rated as likely pathogenic based on the guidelines of the American College of Medical Genetics and Genomics (ACMG). Ultra-deep sequencing indicated that the variant has a proportion of 2.63% in the mother, suggesting the presence of low percentage mosaicism. Prenatal diagnosis of amniotic fluid sample suggested that the fetus did not carry the same variant. CONCLUSION The heterozygous c.1762C>T variant of the TCF4 gene probably underlay the disease in this child and has derived from the low percentage mosaicism in his mother.
Child ; Female ; Humans ; Male ; Pregnancy ; Intellectual Disability/genetics* ; Mosaicism ; Mothers ; Mutation ; Parents ; Transcription Factor 4/genetics*

Medical ethics has a long history and rich connotations.It has developed from the simple "medical morality" of ancient times to the modem medical ethics.The basic principles of medical ethics include autonomy,non-maleficence,beneficence,justice,and so on.Researchers often conduct clinical researches in the balance between achievements and ethical norms.Clinical researchers of surgery should have a deep understanding of medical ethical principles and strictly abide by medical ethics.Ethics committee should strictly perform their duties and play the role of inspection and supervision.Modem medical knowledges should be popularized throughout the society to make clinical research correctly understood.Adhering principles of ethics first,people orientation and cooperation practice,with patients' benefit as evaluation criteria,balance of surgical "Dao" and "Shu" can be achieved.

Nasopharyngeal carcinoma (NPC) is one of the common head and neck malignant tumors. Radiotherapy is the main treatment for NPC. The comprehensive application of chemotherapy strategies (induction, concurrent and adjuvant) in radiotherapy has improved the efficacy in the treatment of locally advanced NPC. Based on current evidence, concurrent chemoradiotherapy combined with adjuvant or induction chemotherapy has been recommended as the standard treatment for locally advanced NPC. However, there are still many deficiencies in the standard treatment, and the application of induction and adjuvant chemotherapy remains controversial. Establishing a more ideal and individualized chemoradiotherapy for locally advanced NPC is still the research direction in the future.

Objective: The expression of spectrin beta chain, brain1(SPTBN1) were measured in nasopharyngeal carcinoma (NPC) cell lines, as well as tissues and serums of NPC cases and normal controls. The clinical value of SPTBN1 expression for NPC diagnosis were assessed along with the antibody levels of early antigen-IgA(EA-IgA) and viral capsid antigen-IgA(VCA-IgA). Methods: A total of 71 nasopharynx tissue specimens and 130 serum from both NPC cases and matched health controls were collected from December 2016 to December 2018. In logistic regression the levels of SPTBN1, EA-IgA, VCA-IgA were identified and included in an integrative risk prediction model. Discriminatory accuracy was measured by generation of receiver operator curves and estimation of area under the curve (AUC). Results: The SPTBN1 concentration in cell lines from NP69, 6-10B to 5-8F showed a decreasing trend (H=50.205, P<0.05). The SPTBN1 expression level in serums were significantly lower [73(42, 142)] compared to controls, while EA-IgA and VCA-IgA levels [3.42(1.29, 5.19),3.55(1.95, 5.01)]were higher in NPC serum samples (H_SPTBN1=24.105, H_EA-IgA=52.398, H_VCA-IgA=70.426, P<0.01). The findings were confirmed in tissues that the positive SPTBN1 rate were significantly lower in cases (86.7%) as compared to controls (43.9%, χ²=13.443, P<0.001). In the risk prediction model for NPC diagnosis, the AUC of SPTBN1 alone and the integrated regression model were 0.794 and 0.987, respectively (Z=4.900,P<0.01). Conclusions The lower expression of SPTBN1 was a potential marker in NPC diagnosis. The combined analysis of SPTBN1, EA-IgA and VCA-IgA may improve the sensitivity and specificity in NPC diagnosis.