Inhibitory Effect of Hederasaponin B on Gastric Cancer HGC-27 Cells and Its Mechanism Based on Bioinformatics / 中国实验方剂学杂志

ObjectiveTo investigate the inhibitory effect of hederasaponin B on gastric cancer HGC-27 cell and the mechanism. MethodMethyl thiazolyl tetrazolium （MTT） assay， hematoxylin-eosin （HE） staining， 4'，6-diamidino-2-phenylindote （DAPI） staining， colony formation assay， scratch assay， and flow cytometry were employed for the analysis of apoptosis and cell cycle. Thereby， the inhibitory effect of hederasaponin B on gastric cancer HGC-27 cell was investigated. Then the Pharm Mapper， UniProt， Swissdock， STRING， and Metascape were used for target screening， gene annotation， molecular docking， protein-protein interaction （PPI） network construction， Gene Ontology （GO） term and Kyoto Encyclopedia of Genes and Genomes （KEGG） pathway analysis to explore the mechanism. ResultHederasaponin B （15， 30， 60， 120 μmol·L-1） can significantly reduce the survival rate of HGC-27 cell （P<0.01） in a time-dependent and dose-dependent manner compared with the blank group. It had no significant toxicity to normal GES-1 cell at concentration below 120 μmol·L-1. Compared with the blank group， hederasaponin B （30， 60， 120 μmol·L-1） induced cytoplasmic vacuolization， and nuclear deformation and karyopyknosis， inhibited the migration of HGC-27 cell （P<0.01）， and brought about the apoptosis （P<0.05， P<0.01） and cell cycle arrest of HGC-27 cell （P<0.05， P<0.01）. Hederasaponin B （10， 20， 30 μmol·L-1） also suppressed the independent survival ability and proliferation ability of HGC-27 cell （P<0.01）. The possible action targets were kinesin-like protein KIF11， cGMP-specific 3，5 cyclic phosphodiesterase， caspase-3， serine/threonine protein kinase Chk1， proto-oncogene tyrosine protein kinase， epidermal growth factor receptor， and mitogen-activated protein kinase （MAPK） 8. The mechanism may be related to MAPK signaling pathway （pathways in cancer）， adhesion connection， focal adhesion and proteoglycans in cancer （epithelial cell signaling pathways in Helicobacter pylori infection）. ConclusionHederasaponin B exerts significant inhibitory effect on gastric cancer HGC-27 cell through multiple targets and multiple pathways.

Hereditary haemochromatosis presenting as diabetes and complicated with abnormal liver function, hypogonadism, osteoporosis: a case report / 中华内分泌代谢杂志

Hereditary hemochromatosis(HH) is relatively rare in the Chinese population, and the disease can involve multiple systems. It is easy to be missed and misdiagnosed due to nonspecific clinical manifestations. We report on a case with diabetes as the first diagnosis and being confirmed HH later. In addition to abnormal liver function, this patient also developed a variety of endocrine and metabolic diseases such as hypogonadism and osteoporosis. Included with this case report is a literature based discussion of clinical features, management of HH along with its relationship with endocrine dysfunction to improve disease understanding.

Application of case-based learning based on WeChat Rain Classroom in large class teaching / 中华医学教育探索杂志

Objective:To explore the application effects of case-based learning (CBL) based on Rain Classroom in surgical nursing teaching of large class.Methods:A total of 357 nursing undergraduates of Batch 2017 in Fenyang College of Shanxi Medical University were selected as the research objects and randomly divided into experimental group (176 cases) and control group (181 cases). The experimental group adopted the CBL based on Rain Classroom, while the control group adopted the traditional multimedia classroom CBL mode. After the teaching, the teaching effect was evaluated by interviewing, comparing the scores of theoretical examination and questionnaire survey. SPSS 19.0 was performed for t test. Results:The scores of memory type, comprehension type and comprehensive application type questions in the experimental group were significantly higher than those in the control group ( P<0.01). The scores of the experimental group were significantly higher than those of the control group in stimulating thirst for knowledge, learning initiative, classroom learning efficiency, memory of knowledge points, problem analysis, clinical thinking and team cooperation ability ( P<0.01). The interview information suggested that the interest of pre-study materials, the control of discussion links and the network effect were the problems affecting the classroom effect of the experimental group, while the control group had the problems of poor learning autonomy and enthusiasm. Conclusion:The CBL based on Rain Classroom can mobilize the initiative and participation of students in large class teaching, improve the learning effect and cultivate comprehensive ability, which is worthy of promotion.

Effect of parent-child bibliotherapy on symptom management and self-management behaviors in school-age children with asthma / 中国实用护理杂志

Objective:To investigate the effect of parent-child bibliotherapy on symptom management and self-management behaviors in school-age children with asthma.Methods:From January 2018 to December 2019, a total of 130 school-age asthma children were randomly divided into experiment group ( n=65) and control group ( n=65) by random number table method. Children in the control group received routine care, experiment group carried out parent-child bibliotherapy based on the routine care and assessed after three months of intervention. The times of asthma attack and emergency treatment were recorded between two groups, the daytime and nighttime symptom scores were assessed according to the Guidelines for the diagnosis and treatment of bronchial asthma in children, and self-management behaviors was measured by Self-management Behavior Questionnaire for Asthmatic Children. Results:After three months of intervention, the average frequency of asthma and emergency treatment in the experiment group (1.84±0.51), (1.16±0.58) times were reduced, compared to (2.53±0.85), (1.34±0.32) times in the control group, the difference was statistically significant ( t values were 2.281, 2.084, P<0.05). After three months of intervention, the daytime and nighttime symptom scores were (1.54±0.35) points and (1.40±0.17) points, lower than (2.15±0.43) and (1.98±0.52) points in the control group, the difference was statistically significant ( t values were 2.632, 2.338, P<0.05).; the total self-management behaviors scores and diet, avoidance of allergens, recognition and treatment of asthma attack, exercise, drug scores were (3.08±0.32), (3.02±0.83), (2.54±0.66), (3.46±0.50), (3.09±0.79), (3.23±0.85) points, higher than (2.74±0.34), (2.68±0.65), (2.18±0.88), (2.97±0.79), (2.77±0.78), (2.81±0.69) points in the control group, the difference was statistically significant ( t values were 2.187, to 5.588, P<0.05). Conclusion:The parent-child bibliotherapy can effectively improve the self-management behaviors and relieve the symptom of asthma and reduce the times of attacks and emergency treatment of school-age children with asthma.

Correlation analysis between vitamin A, D and E levels with the altitude, seasonal variation and other factors in children with 0-6 years old in Tibetan Plateau of Ganzi Prefecture / 中华实用儿科临床杂志

Objective:To detect serum levels of vitamin A (Vit A), vitamin D(Vit D)25-hydroxy vitamin D[25-(OH)D] and vitamin E(Vit E) in children aged 0-6 years in Tibetan Plateau of Garzi Prefecture, thus providing references for physical examinations and prevention of 4 key diseases (rickets, malnutrition anemia, pneumonia and diarrhea) in children in plateau areas by relevant government departments.Methods:A total of 2 122 children who participated in physical examination in 12 townships of Xiangcheng County and 14 townships of Daocheng County, Garzi Tibetan Autonomous Prefecture, Sichuan Province from April 2017 to April 2019 with 0-6 years old were recruited for surveying physical measurements and collection of venous blood.Serum Vit A and Vit E levels were detected by high performance liquid chromatography.Serum levels of 25-(OH)D were detected by high performance liquid chromatography tandem mass spectrometry.The relationship between Vit A, Vit E and 25-(OH)D levels with the gender, age, seasonal change and altitude was analyzed.Results:The serum Vit A level, subclinical Vit A deficiency rate and marginal vitamin A deficiency rate were(1.05±0.27) μmol/L, 8.15%(173/2 122 cases) and 45.99%(976/2 122 cases), respectively in 2 122 children with 0-6 years old.There were significant differences in the serum Vit A level, the subclinical Vit A deficiency rate and the marginal vitamin A deficiency rate in children with different ages, seasons and altitudes (all P<0.05). The serum level of 25-(OH)D and 25-(OH)D deficiency rate insufficient rate were (24.65±6.45) ng/L, 6.03%(128/2 122 cases) and 16.59%(352/2 122 cases), respectively.There were significant differences in the serum level of 25-(OH)D, 25-(OH)D deficiency rate and 25-(OH)D insufficient rate in children with different ages and seasons (all P<0.05). The mean serum Vit E level, Vit E deficiency rate and Vit E insufficient rate were (7.81±1.74) mg/L, 2.78%(59/2 122 cases) and 29.59%(628/2 122 cases), respectively.There were significant differences in serum Vit E level, Vit E deficiency rate and Vit E insufficient rate in children with different ages and seasons (all P<0.05). The mean serum levels of Vit A and Vit D remained the lowest before the age of 1 year, and their deficiencies at this age were the most significant.The mean serum level of Vit E remained the lowest in >1-2 years old, and its deficiency and insufficient at this age were the most significant.Vit A, D and E levels were significantly affected by seasonal changes, which were significantly higher in the summer than in the spring, autumn and winter.In addition, Vit A and 25-(OH)D were significantly affected by the altitude, which were the lowest above 4 km altitude. Conclusions:The overall serum levels of Vit A, 25-(OH) D and E in children with 0-6 years old in Tibetan Plateau areas of Ganzi Prefecture are lower than those in plain areas.Vit A, 25-(OH) D and Vit E levels significantly differed in the age, season and altitude, which are related to the lack of local resources, insufficient maternal nutrition during pregnancy and insufficient intake after birth, as well as temperature and light caused by changes in local seasons and altitude.Therefore, it is necessary to make reasonable supplements during pregnancy to prevent vitamin deficiency.

Application of CRISPR in evolution analysis, detecting and typing, virulence and antibiotic resistance regulation in food-borne pathogens / 生物工程学报

Clustered regularly interspaced short palindromic repeats (CRISPR) and its associated protein gene system can limit the horizontal gene transfer, thereby effectively preventing the invasion of foreign gene elements such as bacteriophages. CRISPR arrays of different bacteria are diverse. Based on the differences in the CRISPR system, this review summarizes the application of CRISPR in food-borne pathogen evolution analysis, detection and typing, virulence and antibiotic resistance in recent years. We also address bacterial detection typing method developed based on the characteristics of CRISPR arrays and the association of CRISPR with virulence and drug resistance of food-borne pathogens. The shortcomings of CRISPR in evolution, detection and typing, virulence and resistance applications are analyzed. In addition, we suggest standardizing CRISPR typing methods, improving and expanding the CRISPR database of pathogenic bacteria, and further exploring the co-evolution relationship between phages and bacteria, to provide references for further exploration of CRISPR functions.

Research progress in biosynthesis of podophyllotoxin and its derivatives / 生物工程学报

Podophyllotoxin (PTOX) is an aryl-tetralin lignan of plant origin found in some species of Podophyllum such as Dysosma versipellis, Diphylleia sinensis, and Sinopodophyllum hexandrum. Etoposide and teniposide are produced semisynthetically from PTOX and used clinically to treat several forms of cancer. As a typical representative of new drug discovery from natural products, the production of PTOX solely depends on extraction from plants, resulting in severe contradiction between supply and demand. With the advantages of unconstrained resources and eco-friendly reaction conditions, biosynthesis method has become a trend in the production of PTOX and its derivatives. In this review, we summarize the research progress of PTOX biosynthesis in plants and expound the functions of the key enzymes as well as their subcellular location. The synthetic biology for production of PTOX intermediates in a tobacco chassis is also introduced. Finally, the heterologous expression and biotransformation of PTOX in microorganisms is summarized, which sets the foundation for the efficient microbial production of PTOX using cell factories.

Thyrotropin-secreting adenoma in multiple endocrine neoplasia type 1: one case report and literature review / 中华内分泌代谢杂志

Objective@#To improve the understanding of thyrotropin-secreting adenoma in multiple endocrine neoplasia type 1(MEN1) through analyzing the clinical diagnosis and treatment process, as well as outcomes in one case of this disorder.@*Methods@#The clinical manifestations, biochemical and hormone levels, imaging presentations, medical and surgical treatments, and post-operational pathologic findings in the process of diagnosis and treatment of a patient with thyrotropin-secreting adenoma in MEN1 were analyzed. The next generation sequencing followed by Sanger method was used for analyzing MEN1 and related genes. The results were evaluated with online PolyPhen2 and PROVEAN for variation hazard.@*Results@#One 19-year old male patient was diagnosed with hyperthyroidism due to thyrotoxicosis and high level of thyroid hormones(THs) with measurable TSH(2.78 mIU/L) and negative thyrotropin receptor antibody(TRAb). Meanwhile, primary hyperparathyroidism was suggested by hypercalcemia, hypophosphatemia, and elevated intact parathyroid hormone(PTH) level, all the parameters were returned to normal after surgical resection of the mass which was below the left thyroid lobe indicated by ultrasound and 99mTc scan. Thyrotoxicosis remained in spite of one year treatment with antithyroid drug, thyrotropinoma was then suspected, and subsequent MRI scan found a macroadenoma at right pituitary. TSH and THs returned to normal 1 month after transsphenoidal removal of the adenoma. As expected, immunohistochemical staining revealed TSH positive. In addition, a pancreatic mass was found by both CT and MRI scan, which was considered as a silent neuroendocrine tumor. Gene analysis revealed a missense mutation of MEN1 as c. 415C>T and p. His139Tyr(H139Y), which was predicted highly hazard. Only five cases of thyrotropinoma in MEN1 were previously reported.@*Conclusion@#Thyrotropinoma should be cautiously identified from hyperthyroidism to avoid misdiagnosis and mistreatment, and it should keep in mind that thyrotropinoma may be associated with MEN1 though it would be very rare.

Thyrotropin-secreting adenoma in multiple endocrine neoplasia type 1: one case report and literature review / 中华内分泌代谢杂志

Objective:To improve the understanding of thyrotropin-secreting adenoma in multiple endocrine neoplasia type 1(MEN1) through analyzing the clinical diagnosis and treatment process, as well as outcomes in one case of this disorder.Methods:The clinical manifestations, biochemical and hormone levels, imaging presentations, medical and surgical treatments, and post-operational pathologic findings in the process of diagnosis and treatment of a patient with thyrotropin-secreting adenoma in MEN1 were analyzed. The next generation sequencing followed by Sanger method was used for analyzing MEN1 and related genes. The results were evaluated with online PolyPhen2 and PROVEAN for variation hazard.Results:One 19-year old male patient was diagnosed with hyperthyroidism due to thyrotoxicosis and high level of thyroid hormones(THs) with measurable TSH(2.78 mIU/L) and negative thyrotropin receptor antibody(TRAb). Meanwhile, primary hyperparathyroidism was suggested by hypercalcemia, hypophosphatemia, and elevated intact parathyroid hormone(PTH) level, all the parameters were returned to normal after surgical resection of the mass which was below the left thyroid lobe indicated by ultrasound and 99mTc scan. Thyrotoxicosis remained in spite of one year treatment with antithyroid drug, thyrotropinoma was then suspected, and subsequent MRI scan found a macroadenoma at right pituitary. TSH and THs returned to normal 1 month after transsphenoidal removal of the adenoma. As expected, immunohistochemical staining revealed TSH positive. In addition, a pancreatic mass was found by both CT and MRI scan, which was considered as a silent neuroendocrine tumor. Gene analysis revealed a missense mutation of MEN1 as c. 415C>T and p. His139Tyr(H139Y), which was predicted highly hazard. Only five cases of thyrotropinoma in MEN1 were previously reported. Conclusion:Thyrotropinoma should be cautiously identified from hyperthyroidism to avoid misdiagnosis and mistreatment, and it should keep in mind that thyrotropinoma may be associated with MEN1 though it would be very rare.

Nursing care of a patient with superior mesenteric artery syndrome after adolescent idiopathic scoliosis posterior correction surgery / 中国实用护理杂志

Objective:To reports the nursing care of a patient with superior mesenteric artery syndrome after posterior spinal correction for adolescent idiopathic scoliosis.Methods:While in hospital, conservative treatment requires fasting and water deprivation, gastrointestinal decompression. Combined with perioperative nursing measures of spinal orthopedics, the nursing focus of patients during hospitalization includes: enteral and parenteral nutrition, designed the condition record sheet, and dynamically monitor the patient′s condition; personalized guidance about function exercise was gibien.In addition,continuous care after discharge were provided through health education before discharge and post-discharge follow-up.Results:After the implementation of the nursing measures, the patient recovered well after surgery, the symptoms of superior mesenteric artery syndrome were effectively controlled, and the patient resumed eating through the mouth. Two months after discharge, the patient gained 4kg of body weight.Conclusion:The treatment and nursing of superior mesenteric artery syndrome is a long-term process, nurses should place emphasis on observation and nutrition support, and also the patient psychological care.

Analysis of deafness gene variant screening of 7875 neonatal cases in Dongying area of Shandong / 中华医学遗传学杂志

OBJECTIVE@#To determine the types and frequency of deafness-related variants among 7875 newborns from Dongying area of Shandong Province.@*METHODS@#One hundred loci of 18 common deafness genes were subjected to semiconductor sequencing. Variant site, frequency and distribution of the variants were analyzed.@*RESULTS@#In total 552 deafness gene variants were detected among the 7875 newborns, which yielded a detection rate of 7.01%. Among these, common variant sites for GJB2, SLC26A4 and GJB3 genes were c.235delC, IVS7-2A>G and c.538C>T, respectively. The variant frequencies of matrilinear inheritance deafness genes MT-CO1, MT-RNR1, MT-TL1 and MT-TS1 were 0.38%, 0.25%, 0.1% and 0.01%, respectively. Four newborns were diagnosed with deafness, among which one had unilateral hearing loss. Analysis of the proportions of neonatal deafness-related variants in five counties of Dongying showed that the highest variant rate for the SLC26A4 gene compared with GJB2 was in Lijin county (51.76% vs. 40%), while the lowest was in Hekou county (30.77% vs. 56.41%).@*CONCLUSION@#The carrier rate of deafness-related variants in Dongying area is higher than other regions of China, which may be attributed to the increased types and variant sites covered by the semiconductor sequencing method compared with the chip method and time-of-flight mass spectrometry. Due to geographical and population aggregation factors, the proportion of deafness variants in the five counties of Dongying differed significantly. Above results may provide a guide for the prevention of congenital deafness in Dongying area.

Analysis of Correlation between TTF-1 and Sensitivity to First-line Chemotherapy and Prognosis in Patients with Small Cell Lung Cancer / 中国肺癌杂志

BACKGROUND@#Thyroid transcription factor-1 (TTF-1) has been widely studied in non-small cell lung cancer, which is considered as an independent prognostic factor in patiens with non-small cell lung cancer. However, there are few studies on the prognostic value of TTF-1 in small cell lung cancer (SCLC). The purpose of this study was to explore the relationship between the expression state of TTF-1 and the sensitivity to first-line chemotherapy and prognosis in patients with SCLC.@*METHODS@#A retrospective analysis was made on 234 patients with SCLC who were diagnosed and treated in The Affiliated Hospital of Qingdao University and received platinum-based chemotherapy. The clinical characteristics, treatment and survival of the patients were followed up. Chi χ² test and Logistic regression model were used to analyze the relationship between TTF-1 expression and chemotherapy response rate. Kaplan-Meier method and Cox proportional hazard regression model were used to analyze the effect of TTF-1 expression on survival time of patients.@*RESULTS@#Among the 234 patients, the positive expression of TTF-1 was 188 cases (80.3%), and the negative expression of TTF-1 was 46 cases (19.7%). The objective response rate (ORR) of first-line chemotherapy in patients with positive expression of TTF-1 was higher than that in patients with negative expression of TTF-1 (70.7% vs 47.8%) (χ²=8.681, P=0.003). Logistic regression multivariate analysis showed that the expression state of TTF-1 was an independent predictor of ORR in first-line chemotherapy (OR=0.216, 95%CI: 0.076-0.615, P=0.004), however this difference was only reflected in LS-SCLC. The median progression free survival (PFS) of patients with negative expression of TTF-1 was shorter than that of patients with positive expression (6.9 months vs 9.0 months) (χ²=9.357, P=0.002). The median OS in TTF-1 negative group was shorter than that in TTF-1 positive group (13.3 months vs 20.1 months)(χ²=12.082, P=0.001).@*CONCLUSIONS@#TTF-1 expression is an independent predictor of first-line chemotherapy response rate and survival in patients with SCLC, and may become a biomarker to predict the efficacy and prognosis of SCLC.

Strain variability of foodborne pathogens in microbiological risk assessment - a review / 生物工程学报

Strain variability is one of the most important factors to influence the accuracy of foodborne pathogens risk assessment, such as Listeria monocytogenes, Salmonella spp. Strain-to-strain variation is defined as the inherent differences among identically treated strains of the same microbial species. The differences cannot be eliminated by changing test methods or improving test protocols. This review addresses presently related studies of strain variability. Based on the effect of strain variability on the outcome of risk assessment, we summarize sources of variabilities in food chain, strain phenotypic variabilities and the methods to integrate strain variability in growth and inactivation into predictive modelling, and indicate the inadequacies in the study of strain variability. We suggest further study the mechanism of strain variability, expand the comparison of variability among different sources, and integrate the variability of gene expression, protein and cell metabolism into the predictive modelling.

Research Progress in the Treatment of Brain Metastases from Non-small Cell Lung Cancer / 中国肺癌杂志

Lung cancer is the leading cause of cancer-related deaths worldwide. The most common pathological type of lung cancer is non-small cell lung cancer (NSCLC). The incidence of brain metastases caused by NSCLC has been on the rise. Brain metastasis seriously affects the patient's cognitive function, survival time and quality of life, and the prognosis is extremely poor. The natural course of the disease is about 1 mon-3 mon. After treatment, the median survival time is only 3 mon-6 mon, the one year survival rate is 14%, and the two years survival rate is only 7.6%. The location, number, and size of brain metastases are related to their symptoms and survival. Patients with central nervous system symptoms have a worse prognosis. The goal of brain metastasis treatment is to optimize overall survival and quality of life, and to prioritize the preservation of neurocognitive functions. At present, the main treatments for brain metastases in NSCLC include radiotherapy, surgery, chemotherapy, molecular targeting, and immunotherapy. Clinically, it is necessary to conduct a multidisciplinary assessment of the best treatment methods for patients according to the heterogeneity of patients (clinical characteristics, pathological types, tissue types, etc). This article aims to review the research progress of current treatment methods.
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Effect of methanol-ethyl acetate partitioned fractions from on proliferation and apoptosis of human non-small cell lung cancer H1975 cells / 南方医科大学学报

OBJECTIVE@#To investigate the effects of methanol-ethyl acetate partitioned fractions from (MEDS) on the proliferation and apoptosis of human non-small cell lung cancer H1975 cells.@*METHODS@#The systemic solvent extraction method was used to preliminary separation of the effective fractions in the methanol extract of . The cytotoxicity of each extract (5, 10, 20, 40, and 80 μg/mL) was tested using MTT assay. Colony cloning method was used to assess the effect of different concentrations of methanol-ethyl acetate partitioned fractions from MEDS (5, 10, 20, 40, and 80 μg/ mL) on the proliferation of H1975 cells. Flow cytometric analysis with Annexin V-FITC/PI staining was performed to detect the apoptosis of the cells after treatment with different concentrations of MEDS fractions (10, 20, and 40 μg/mL). Western blotting was used to evaluate the effects of MEDS fractions on the expressions of apoptosis-related proteins Akt, Bax, and Bcl-2. The anti-tumor activity of 100 mg/kg MEDS fractions was tested in a nude mouse model bearing H1975 cell xenografts.@*RESULTS@#MTT assay and colony forming experiment showed that MEDS fractions significantly inhibited the proliferation of H1975 cells in a dose-and time-dependent manner ( < 0.05). The results of flow cytometry showed that MEDS fractions induced obvious apoptosis of H1975 cells in a concentration-dependent manner ( < 0.05). MEDS fractions also significantly decreased the expressions of Bcl-2 and Akt protein and increased the protein expression of Bax ( < 0.05). In the tumor-bearing nude mouse model, MEDS fractions showed potent anti-tumor effects with a low toxicity to affect the body weight and organs of the mice.@*CONCLUSIONS@#The methanol-ethyl acetate partitioned fractions from MEDS show potent anti-tumor activity both and , suggesting their value as promising therapeutic agents against lung cancer.

A four-generation pedigree affected with X-linked adrenal hypoplasia congenita due to a novel missense DAX1 mutation / 中华医学遗传学杂志

OBJECTIVE@#To report on the clinical pictures of 7 patients from a pedigree affected with X-linked adrenal hypoplasia congenita (XL-AHC) and hypogonadotropic hypogonadism (HH) and the underlying mutations.@*METHODS@#Seven patients were identified from a four-generation pedigree affected with XL-AHC and HH. Their clinical features, endocrinological changes, treatment and drug response were recorded. The patients were subjected to next-generation sequencing, and the result was verified by Sanger sequencing. PolyPhen-2 was used for predicting the influence of the mutation on protein production.@*RESULTS@#Three deceased patients had manifested adrenal insufficiency (AI) within one year after birth. Two died at 6 and one died at 12. The four survivors presented with salient clinical and endocrinological features of AHC and HH, adrenal and testicular atrophy, and renin-angiotensin compensation. Two adult patients had testicular micro-stone detected by ultrasound.One of them also had remarkable seminiferous tubule degeneration by biopsy. The patients were followed up for 0.5 to 10 years. All required hyper-physiological dose of hydrocortisone to stabilize their clinical condition. In three patients, gonadotropic or androgen replacement induced cardinal masculine development but with unsatisfactory testis growth and sperm production.Genetic analysis revealed a novel missense c.827A>C (p.Q276P) mutation in a hotspot region within a highly conserved domain. PolyPhen-2 predicted the mutation to be highly hazardous.@*CONCLUSION@#The novel p.Q276P mutation of the DAX1 gene probably underlies the XL-AHC and HH in this pedigree with variable clinical presentations in the patients.

Dysphagia and its relationship with weight change in head and neck cancer patients treated with radiotherapy / 中华临床营养杂志

Objective To describe the characteristics of dysphagia in patients with head and neck cancer during radiotherapy,and analyze the cause of dysphagia and the relationship between dysphagia and weight change.Methods Patients with head and neck cancer treated with radiotherapy in Beijing Cancer Hospital from November 2017 to June 2018 were recruited.The M.D.Anderson Dysphagia Inventory (MDADI) was used to assess the dysphagia of patients before (T1),during (T2) and at the end (T3) of the radiotherapy.Meanwhile,the weight,dietary intake and radiation adverse effects were investigated.Generalized estimating equations were used to analyze the impact factors of dysphagia and the relationship among dysphagia,dietary intake and weight change.Results Ninety-six patients were completely investigated and the incidence of dysphagia were 6.3％ (6/ 96),80.2％ (77/96) and 85.4％ (82/96) in T1,T2 and T3.With the progress of radiotherapy,the total score and the scores of 4 dimensions of MDADI dropped and the dietary intake declined.The average weight loss was (5.09±3.31) kg,and 76.1％ of the patients had weight loss over 5％ at the end of radiotherapy.The occurrence of dysphagia was associated with the radiotherapy-related oral and laryngeal mucositis and the weight loss was closely associated with the site of radiation,dysphagia,and dietary intake decline.Conclusions The dysphagia of patients with head and neck cancer is affected by radiation adverse effects,and is most severe at the end of radiotherapy.Dysphagia might result in dietary intake decline and weight loss.Clinicians should pay close attention to the swallowing function of the patients and take measures earlier accordingly.

Radiation induced mucositis and its relationship with nutritional status in head and neck cancer patients treated with radiotherapy / 中华临床营养杂志

Objective To describe the characteristics of radiation induced mucositis in patients withhead and neck cancer ( HNC) during radiotherapy, and analyze the effect of radiation induced mucositis on diet patterns and weight change and the influencing factors for radiation induced mucositis. Methods Patients with HNC treated with radiotherapy in one cancer hospital were recruited. Data were collected before, during and at the end of the radiotherapy, which included radiation induced oral and pharyngeal mucositis, pain during eat-ing, diet patterns and weight. Results Two hundred and two patients were completely investigated and 43.5％and 34. 2％ of the patients suffered from moderate to severe (≥grade 2) oral mucositis and pharyngeal mucosi-tis, respectively during the radiotherapy. At the end of radiotherapy, 53. 5％ and 51. 5％ of the patients suffered from moderate to severe oral mucositis and pharyngeal mucositis (≥grade 2 ) , respectively. Oral and pharyngeal mucositis were significantly correlated with pain during eating, diet patterns and weight ( P<0. 05) . Tumor site was the main reason that affected the severity of mucositis ( Wald χ2 =26. 033, 14. 216;P<0.001). Conclusion Radiation induced mucositis was gradually aggravated with radiotherapy progress, which is closely related to pain during eating, change of diet patterns and weight loss. The severity of mucositis is re-lated to the tumor site. Measures should be taken to strengthen the management of adverse reactions and nutri-tional status of patients.

Research on the Development Status and Suggestions of TCM Enterprises of Nantong City / 中国药房

OBJECTIVE： To study the development status of TCM enterprises of Nantong city and provide suggestions， and to promote the sustainable development of TCM enterprises of Nantong city. METHODS： Taking Nantong city as an example， questionnaires were issued to 15 TCM enterprises in Nantong （including 4 TCM decoction piece enterprises， 11 TCM pharmaceutical preparation enterprises）. The statistical analysis was carried out in respects of scale structure， development （including economic development and staff） and development potential （by enterprise R&D funds and R&D personnel input intensity） of enterprises during 2013-2017. RESULTS & CONCLUSIONS： In terms of the scale and structure of the enterprise， there were no large-scale enterprises in Nantong city， only 3 medium-sized enterprises， 12 small enterprises； the overall scale of enterprises was small； the overall concentration of TCM enterprises was not high， in which the market structure of TCM decoction piece enterprises was oligopolistic， and the structure of preparation enterprises was competitive. The concentration of TCM decoction enterprises was higher than that of TCM preparation enterprises. In terms of economic development， the annual average GDP and profit growth rate are 14.98％ and 19.09％ from 2014 to 2017； the economic development situation was good， but the brand variety advantage was not developed fully. In terms of staff， employee’s education level was mainly college degree （34.01％） and the staff category was mainly salesperson （32.73％）. In terms of the company’s development potential， enterprise R&D funds and R&D personnel input intensity were in low levels （average 2.96％， 11.32％ in 5 years）， the number of patents （16 in 2013 vs. 17 in 2017） and innovative products （7 in 2013 vs. 12 in 2017） increases slowly， and only one had opened up overseas markets. In response to the issues， TCM enterprises of Nantong city or other areas should merge and reorganize appropriately to expand the scale of the industry and improve the market concentration； increase research funds and talented personnel investment， insist the protection and in novation of TCM. In addition， build a big data “healthy cloud” platform to break the traditional industrial chain； at the same time， seize the “Belt and Road” policy finance and taxation opportunities to promote overseas and develop markets to promote the sustainable development of TCM enterprise.

Comparative analysis on detection results of 4 items of liver enzymology in 11 clinical laboratories of Xinjiang Production and Construction Corps / 国际检验医学杂志

Objective To understand the comparability of the detection results of four items (ALT ,AST , GGT ,ALP) of liver enzymology in 11 clinical laboratories in Xinjiang Production and Construction Corps (XPCC) and offer reference for improving mutual recognition of the results .Methods Eleven clinical labora-tories of XPCC organized the result comparability tests of 4 items of liver enzymology twice in 2017 ,and the samples with 5 batches were completed in each comparability test .One set of detection system in each labora-tory was used as comparability system according to comparability scheme .The detection results were analyzed through Robust Z Score and the evaluation criterion was :|Z|≤2 "satisfied";2< |Z|<3"warning";|Z|≥3 "not satisfied".Results The detection results of all 10 batch samples in 4 clinical laboratories showed |Z|≤2 in 2 comparability tests .In the first comparability test ,the detection results of 5 batch samples for 4 items were |Z|≤2 in 5 laboratories .In the second comparability test ,the detection results of 5 batch samples for 4 i-tems were |Z|≤2 in 8 laboratories ,but the ALT results of 5 batch samples in 1 laboratory showed positive deviation(Z≥3)and the GGT results of 5 batch samples in the other laboratory showed negative deviation (Z≤ -3) .Conclusion The 11 clinical laboratories in XPCC should continuously improve quality management system and make sure that the mutual recognition of the detection results of 4 items of liver enzymology is effective .