Objective To develop a rapid and specific method for identification of listerial species and differentiation of Listeria monocytogenes。 Method Primers targeting the iap and hly genes specific for listerial species and L monocytogenes were designed。 The dulplex PCR and triplex PCR were compared for their ability to identify and differentiate the listerial species。 Results Both dulplex PCR and triplex PCR are specific to all listerial reference strains. The dulplex-PCR could not identify some of the L. monocytogenes isolates while the triplex PCR did. Conclusion The triplex PCR method could be used not only for identification of listerial species but also for differentiation of L. monocytogenes from the mixed listerial suspensions.

Objective To study the setup errors in three-dimensional conformal radiotherapy (3DCRT) for thoracic esophageal carcinoma using electronic portal imaging device(EPID) and calculate the margins from CTV to PTV. Methods Forty-one patients with thoracic esophageal carcinoma who received 3DCRT were continuously enrolled into this study. The anterior and lateral electronic portal images (EPI) were aquired by EPID once a week. The setup errors were obtained through comparing the difference between EPI and digitally reconstructed radiographs(DRR). Then the setup margins from CTV to PTV were calculat-ed. By using self paired design,22 patients received definitive radiotherapy with different margins. Group A: the margins were 10 mm in all the three axes;Group B: the margins were aquired in this study. The differ-ence were compared by Paired t-test or Wilcoxon signed-rank test. Results The margins from CTV to PTV in x,y and z axes were 8.72 mm, 10.50 mm and 5.62 mm, respectively. Between the group A and group B, the difference of the maximum dose of the spinal cord was significant(4638.7 cGy±1449.6 cGy vs. 4310.2 cGy±1528.7 cGy; t=5.48, P=0.000), and the difference of NTCP for the spinal cord was also significant (4.82%±5.99% vs. 3.64%±4.70%;Z=-2.70,P=0.007). Conclusions For patients with tho-racic esophageal carcinoma who receive 3DCRT in author's department,the margins from CTV to PTV in x, y and z axes were 8.72 mm, 10.50 mm and 5.62 mm, respectively. The spinal cord could be better protected by using these setup margins than using 10 mm in each axis.

OBJECTIVETo compare and evaluate clinical applications of two definitions of metabolic syndrome in children and adolescents, which was developed by Pediatric Academy of Chinese Medical Association in 2012 (Chinese definition) and by International Diabetes Federation in 2007 (IDF definition), respectively.

METHODS593 obese children and adolescents aged 10 ≊16 y from July 2006 to December 2012 were enrolled in the study. The diagnostic concordance of two definitions for metabolic syndrome and individual components was estimated, and their sensitivity and specificity for detecting insulin resistance and early macrovascular complications were compared.

RESULTSThe concordance between two definitions for diagnosing metabolic syndrome was good (kappa=0.626); as for detecting the individual components, the Kappa concordance index were 1.000, 0.803, 0.780, 0.734 and 0.594 for hypertriglyceridemia, hyperglycemia, cholesterol abnormality and hypertension, respectively. The incidence of insulin resistance and early macrovascular complications, detected by the two definitions, were both increased with increasing number of abnormal components. The sensitivity and specificity for detecting insulin resistance in children with metabolic syndrome were 54.5% and 65.7% by Chinese definition, and 36.1% and 83.1% by IDF definition; while the sensitivity and specificity for detecting early macrovascular complications were 58.3% and 55.8% by Chinese definition, and 37.3% and 70.8% by IDF definition. After adjusting for age and sex, compared to the obese children and adolescents without metabolic syndrome, the odds ratios of insulin resistance and early macrovascular complications were 2.166 (P<0.001) and 1.771(P=0.008) for children with metabolic syndrome diagnosed by Chinese definition, and the odds ratio of insulin resistance and early macrovascular complications were 2.618 (P<0.001) and 1.357 (P=0.190) by IDF definition.

CONCLUSIONThe concordance between Chinese and IDF definitions for diagnosing metabolic syndrome in Chinese obese children and adolescents is good. Compared to IDF definition, Chinese definition is more sensitive for hypertension, hyperglycemia and hypercholesterolemia, thus it can more effectively detect insulin resistance and early macrovascular complication.

Adolescent ; Child ; Female ; Humans ; Insulin Resistance ; Male ; Metabolic Syndrome ; classification ; complications ; diagnosis ; Obesity ; complications ; Sensitivity and Specificity

OBJECTIVETo report on two cases affected with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX).

METHODSTwo unrelated Chinese infants affected with IPEX were investigated. Case 1 was a 4-month-old boy with neonatal diabetes and severe enteropathy. Case 2 was a 6-day newborn boy with neonatal diabetes and ketoacidosis. DNA samples of the two infants and their parents were sequenced for FOXP3 gene mutations. Suspected mutations were verified among 100 unrelated healthy controls. The function of mutations was predicted with bioinformatics software.

RESULTSBoth infants had onset of the disease during neonatal period, and manifested insulin-dependent diabetes mellitus, persistent diarrhea, eczema and malnutrition. In case 1, a novel splice site mutation was identified in intron 9 (c.967+3A>T) of the FOXP3 gene, for which his mother was a carrier. For case 2, a missense mutation (c.1150G>A) was detected in exon 11 of the FOXP3 gene, for which his mother was also a carrier. The IVS9 c.967+3A mutation was not detected among the 100 healthy controls. As predicted with Human Splicing Finder software, the c.967+3A>T mutation may influence the splicing of mRNA and affect the function of protein.

CONCLUSIONBoth cases had typical clinical manifestation of the IPEX syndrome, among whom a novel splice site mutation (IVS9 c.967+3A>T) and a missense mutation (c.1150G>A) of the FOXP3 gene were identified. The clinical manifestation of the IPEX syndrome may be variable and the mortality is high. FOXP3 gene sequencing is recommended when insulin-dependent diabetes mellitus is diagnosed during the neonatal period.

Turner syndrome(TS)results from a sex-chromosomal anomaly characterized by presence of one normal X chromosome and the loss of the second X-chromosome in phenotypic females.The typical clinical manifestations of Turner syndrome are short stature, hypogonadal dysplasia, and special physical characteristics(such as neck web, shield chest, elbow valgus, etc.). And it is related to the risk of autoimmune diseases, such as autoimmune thyroiditis, celiac disease, type 1 diabetes, inflammatory bowel disease, alopecia areata or vitiligo.This review will address the autoimmune disorders associated with TS, their pathophysiologic mechanisms and clinical characteristics.

OBJECTIVETo construct digitized three-dimensional models of the sacrum of women of Uygur and Han nationalities in Xinjiang and assess their value in anatomical studies.

METHODSNinety Uygur women and 90 Han women of child-bearing age in Xinjiang were recruited. Digitized three-dimensional reconstruction was used to construct the sacrum models for morphological study and measurement of the physiological indices.

RESULTSThe sacral forms of Han women were consistent with the standard anatomical descriptions. Of the Uygur women, 57 (63.3%) showed a standard type of the sacrum, 6 (6.7%) had 4 pairs of sacral foramens, 9 (10%) had 5 pairs of sacral foramens, and 18 (20%) had sacrococcygeal joint abnormalities. There were significant differences in sacral morphologies between the two nationalities (P<0.05). The depths of the sacrum foramen and sacral hiatus were significantly greater in Uyghur women than in Han women (P<0.05). Only a minor proportion of the cases had nonstandard sacral types, found only in Uygur women.

CONCLUSIONSUygur and Han women of child-bearing age in Xinjiang have morphological and anatomical differences of the sacrum, which should be considered in clinical practice.

Adult ; Asian Continental Ancestry Group ; Ethnic Groups ; Female ; Humans ; Imaging, Three-Dimensional ; Models, Anatomic ; Sacrum ; anatomy & histology ; Signal Processing, Computer-Assisted

Objective:To explore the effect of constructing WeChat platform and introducing PPT (PowerPoint) optimized by Media studio pro editing technology in the teaching of radiation therapeutics.Methods:Sixty undergraduates of medical imaging technology in Fujian Medical University were randomly divided into experimental group and control group in average. The experimental group set up a WeChat group and acquired the optimized PPT before class; control group received classroom teaching and clinical practice according to the traditional teaching mode. Twenty-four items of MCTQ (Maastricht clinical teaching questionnaire) were selected and translated. A total of 30 teachers majoring in tissue radiation oncology and medical imaging were randomly divided into two groups. The questionnaire was used to evaluate the two teaching models. To examine the academic performance of the two groups of students. SPSS 23.0 software was used for independent sample t-test. Results:By comparing the scores of MCTQ questionnaire between the two groups, it was concluded that the teaching mode of the experimental group had significant advantages in 11 aspects, such as clinical practice, obtaining more learning opportunities and so on ( P < 0.05). The scores of practice [(84.67±7.29) vs. (80.03±8.97)] and final evaluation [(81.53±8.78) vs. (76.77±9.49)] of the students in the experimental group were better than those in the control group ( P < 0.05). Conclusion:The application of optimized PPT by Media studio pro editing technology based on WeChat platform is worth popularizing in the teaching of radiation therapeutics.

Objective:To retrospectively analyze the clinical characteristics of 193 Chinese patients with McCune-Albright syndrome (MAS).Methods:By using keywords " McCune-Albright syndrome", " Albright syndrome", or " fibrous dysplasia " as the search terms, 193 cases of MAS reported in China from January 1990 to November 2022 from the Wanfang data, CNKI, VIP, PubMed, and Embase databases were obtained, and their clinical data was retrospectively analyzed. Intergroup comparisons were carried out by using t test, Mann-Whitney U test, and χ2 test. Results:The 193 MAS patients had included 42 males and 151 females, with the median first-visit age of females being younger than males. The typical triad group had accounted for 46.1% of patients, and the middle first-visit and diagnosis age was younger than the atypical group. The primary reason for first-visit in males of MAS was fibrous dysplasia (FD), whilst that in females of MAS was peripheral precocious puberty (PPP). FD has occurred in 84.5% of the patients, with an average age of onset age being 6.1 years old, and 90% was ≤ 16 years of age. Endocrine hyperfunction was found in 79.3% of the patients, with a higher proportion in females compared with males ( P<0.05). Pituitary involvement was seen in 21.8% of the patients, and the incidence of craniofacial FD and cranial nerve compression was significantly higher in those with elevated growth hormone (GH) than without ( P<0.05). Café-au-Lait Spots were noted in 86.5% of the patients, and 28.3% (28/99) had located on the different side of FD. Conclusion:Most MAS patients had atypical manifestations and multi-systemic involvement. It is more common and occurs earlier in females. The most common reasons for initial diagnosis in male and female patients were FD and PPP, respectively. Patients with elevated GH should be examined for cranial nerve compression.

Objective To explore the gene mutation characteristics and detailed clinical presentations of hyperglycemia caused by GCK mutations in 10 patients.Methods The clinical and follow-up data of 10 patients with hyperglycemia caused by mutation of GCK gene were reviewed.The patients were ascertained between January 1,2014 and August 31,2018 at the Department of Pediatrics,the First Affiliated Hospital of Zhejiang University and Ningbo Women & Children's Hospital.Clinical data were collected,including age,gender,main complaint,family history,fasting blood glucose,fasting blood insulin,2-hour blood glucose,2-hour blood insulin after oral glucose tolerance test,glycosylated hemoglobin,anti-glutamic acid decarboxylase antibody and body mass index.Mutations of GCK gene were detected by Sanger sequencing or high-throughput sequencing of diabetes-related genes in the patients and their family members.Results There were ten patients,8 of them were male,2 were female.The ages at diagnosis varied between 4.7 to 12.3 years.The patients usually did not have obvious clinical symptoms of diabetes mellitus.Most of them were unexpectedly found to have hyperglycemia and with impaired glucose metabolism in three consecutive generations.The fasting blood glucose of patients was 6.8-7.7 mmol/L,2-hour postprandial blood glucose was 7.8-11.6 mmol/L.Fasting blood insulin was 0.5-8.5 mU/L,glucose tolerance test results showed that 2 h postprondial blood insulin was 1.3-55.4 mU/L.The level of glycosylated hemoglobin was 6.1％-6.8％.Anti-glutamic acid decarboxylase antibody was negative in all patients.The GCK mutations identified in patients and one of their parents were located at exon5 (4 cases),exon9 (2 cases),exon2 (1 case),exon4 (1 case),exon6 (1 case) and exon7 (1 case).Conclusions Most of the hyperglycemia patients caused by GCK mutations did not have typical clinical symptoms of diabetes.The fasting blood glucose was slightly elevated.Abnormal glucose tolerance test results were found in all 10 patients.Three consecutive generations of family had impaired glucose metabolism.GCK mutations located at exon 5 were common in 10 cases.There was no correlation between type of mutations and plasma glucose levels in domestic and international researches.When fasting glucose was found abnormal in clinic,a complete family history should be taken and the GCK gene should be sequenced to confirm the diagnosis in time.

Premature ovarian insufficiency(POI), previously known as premature ovarian failure(POF), is defined as the occurrence of premature ovarian failure in women under the age of 40 who may present with delayed puberty, primary or secondary(for 4 months or more)amenorrhea with two times and more of abnormal serum hormonal levels(low estradiol and raised gonadotrophins). And POI is not common in children and adolescents.It is generally believed that the etiologies of POI may be genetic, immunological, iatrogenic, etc.Hormone replacement therapy(HRT)is the primary treatment of POI in children and adolescents, and evaluation of therapeutic strategies to POI including cardiovascular, skeletal and emotional health is needed as well.Recently, the incidence of POI in children and adolescents has increased, therefore, early diagnosis and active treatment are urgent and necessary.Thus, this review will mainly be focused on the etiology and treatment of POI in children and adolescents.