Objective:To investigate whether FcγRⅡb rs775 single nucleotide polymorphism confers susceptibility to Hashimoto′s thyroiditis and its impact on expression of FcγRⅡb protein on B cell surface.Methods:A total of 187 Hashimoto′s thyroiditis patients(HT group) were enrolled, including 46 males(24.60%) and 141 females(75.40%), with a median age of 43(32, 53) years, and 187 healthy controls(conrol group), including 62 males(33.16%) and 125 females(66.84%), with a median age of 41(31, 51) years. The peripheral blood of two groups were sequenced, genotype and allele frequencies distribution of FcγRⅡb rs775 T>C were compared with clinical parameters as strata between the two groups. At the same time, the expression of inhibitory receptor FcγRⅡb on B cell surface was detected using flow cytometry.Results:Compared with control group, the mutant homozygous CC genotype was obviously enrichment in HT group( OR=3.321, 95% CI 1.175-9.386, P=0.018), and the proportion of CC genotype increased in male of HT group( P=0.076). However, there is no significant difference in genotype and allele frequencies between control group and HT group after stratification by sex. In addition, the percentage of FcγRⅡb on B cell surface decreased significantly in HT group( P=0.029). Conclusion:There was no significant correlation between FcγRⅡb polymorphism and the down-regulation of FcγRⅡb protein on B cell surface in Hashimoto′s thyroiditis patients, and FcγRⅡb can be a predisposed factor for Hashimoto′s thyroiditis.

OBJECTIVE: To explore the genetic basis for an infant with neonatal diabetes (NDM) and multiple malformations. METHODS: Genetic variants were detected by next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing. RESULTS: A de novo heterozygous variant, c.1454_1455del(p.K485Rfs), was detected in exon 5 of the GATA6 gene. The variant was undetected in his parents and unreported previously. Bioinformatic analysis predicted the variant to be pathogenic. CONCLUSION The heterozygous variant of c.1454_1455del(p.K485Rfs) of the GATA6 gene probably underlies the disease in this child. Genetic testing can facilitate diagnosis and genetic counseling for NDM.
Abnormalities, Multiple ; Adult ; Diabetes Mellitus/genetics* ; Female ; Genetic Testing ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Infant, Newborn ; Male ; Sequence Deletion/genetics*

Objective:To explore the feasibility of quantitative evaluation of extracellular volume (ECV) fraction in acute ST-segment elevation myocardial infarction (STEMI) by dual-layer spectral detector CT.Methods:The clinical and imaging data of 20 patients with STEMI who underwent cardiac contrast-enhanced CT and MRI from January to October 2019 in Renji Hospital affiliated to Shanghai Jiaotong University School of Medicine were retrospectively analyzed.The dual spectral detector was used in the enhanced CT scan of the coronary artery with retrospectively gate and the late iodine enhancement with prospective gate. Conventional image and holographic spectral image were obtained by iterative and spectral reconstruction. The short axis image of the heart matched with MR image was obtained by multiplanar reconstruction. Based on the data of spectral based image, the IDD map was reconstructed for the calculation of myocardial CT-ECV during the late iodine enhancement. ECV of infarcted myocardium, salvageable myocardium and remote myocardium based on CT and MRI were calculated respectively. Bland-Altman consistency test and intra group correlation coefficient analysis (ICC) were used to compare the consistency of two measurements and different methods. The correlation between CT-ECV and MRI-ECV was compared by Spearman method.Results:The CT-ECV values of infarcted, salvageable, and remote myocardium were 51.21 (49.27, 53)%, 38.64 (36.17, 40)%, and 51.21 (49.27, 53)%, respectively. The difference was statistically significant ( H= 43.17, P<0.01). The CT-ECV value of infarcted myocardium was significantly higher than that of salvageable myocardium and remote myocardium ( Z=-24.60, 35.40, P<0.01), but there was no significant difference between salvageable myocardium and remote myocardium ( Z= 10.80, P=0.15). The T 1 values of infarcted myocardium, salvageable myocardium and remote myocardium were (1 554.85±70.94), (1 443.85±67.28) and (1 307.05±91.73) ms respectively, the difference was statistically significant ( F=51.35, P<0.01). The T 1 value of infarcted myocardium was higher than that of salvageable myocardium and remote myocardium ( t=-5.07, 9.55, P<0.01), and salvageable myocardium was significantly higher than that of remote myocardium ( t=5.38, P<0.01). The MRI-ECV values of infarcted myocardium, salvageable myocardium and remote myocardium were 55.00 (49.27, 57.75)%, 33.50 (29.00, 35.00)%,and 27.00 (26.00, 29.00)%, respectively. The difference was statistically significant ( Z= 47.12, P<0.01). MRI-ECV of infarcted myocardium was significantly higher than that of salvageable myocardium and remote myocardium ( Z=37.45, -20.30, P< 0.01), and salvageable myocardium was significantly higher than that of remote myocardium ( Z = 17.15, P<0.05). The difference between CT-ECV and MRI-ECV measured by two physicians was good. The bias of Bland-Altman analysis was -0.1% (95% CI:-5.5%-5.2%), 0.8% (95% CI:-9.8%-8.2%), and the ICC values were 0.92 and 0.94, respectively. The bias of Bland-Altman analysis in CT-ECV and MRI-ECV consistency test was 4.00% (95% CI:-9.0%-16.9%) and ICC value was 0.88, which had a good correlation ( r=0.75, P=0.001). Conclusions:The iodine density based ECV fromdual-layer spectral detector CT can be used to quantitatively evaluate the changes of extracellular space after acute STEMI, which is helpful to quantitatively evaluate the histological changes after myocardial ischemia.

Objective: To observe the short-term changes of Body Mass Index (BMI) and Waist Circumference (WC) in junior high school students in Harbin, and to explore its association with the changes of high-sensitivity C-reactive protein (hs-CRP) in the same period. Furthermore, to analyze the value of hs-CRP to predict the BMI and WC changes in children and adolescents. Methods: Convenient sampling method was used,and the students in grades 6 and 7 in junior high school in Harbin were selected by stratified clicstering. Physical examination and serum hs-CRP were performed for two consecutive years. According to the results of the two surveys, the subjects were divided into control group (normal → normal), case group (abnormal → abnormal), improved group (abnormal → normal) and progression group (normal → abnormal). The multinomial logistic regression was used to analyze the predictive value of hs-CRP changes for BMI and WC changes. Results: The rate of overweight and obesity among samples from junior high school was 30.6%. The increment of BMI in female was more obvious than that in male(U=17 358.0，P<0.05). Both increments in BMI and WC were positively correlated with increments in hs-CRP(P<0.05). The risk of occurrence of "BMI always abnormal" and "WC always abnormal" increased sequentially in hs-CRP "normal → abnormal", "abnormal → normal" and "abnormal → abnormal", were 3.45 times, 5.98 times and 38.84 times of "BMI is always normal", respectively; and were 3.45 times, 4.26 times and 28.50 times of "WC is always normal", respectively. The risk of "BMI improvement" was 7.70 times more than that of BMI "always normal" when hs-CRP "abnormal → normal". Conclusion The prevalence of overweight and obesity in junior high school students in Harbin is high. The BMI increases faster in female from junior high school. The trends of change of BMI and WC are consistent with the trend of change of hs-CRP. The “hs-CRP change” has a good predictive value for BMI and WC development.

Objective To explore the value of terminal ileum suspension in the treatment of low rectal cancer.Methods 80 patients with low rectal cancer who underwent laparoscopic operation in our hospital from June 2015 to February 2017,were randomly divided into two groups:the control group (group C) and the test group (group T),40 cases in each group.In group C,laparoscopic radical resection of rectal cancer (Dixon) was performed and in group T Dixon was combined with terminal ileum suspension.Peripheral blood nutritional indicators (total plasma protein,albumin,pre-albumin,transferrin) and major electrolytes of two groups were observed 1 day before operation and 1,3 and 7 days after operation.The two groups were compared in terms of first exhaust time,postoperative hospital stay,total costs for hospitalization,postoperative discomforts and complications.Results There were no statistical differences in the levels of nutrition indicators and electrolytes between them (P ＞ 0.05) and neither it was with first exhaust time,hospital stay,total costs of hospitalization,incidence of postoperative discomforts and complications (P ＞ 0.05).The re-operation rate of group T with anastomotic leak was significantly lower than group C (P ＜ 0.05).Conclusion Terminal ileal suspension does not affect patients' postoperative recovery without increasing the patient's suffering and economic burden,and can effectively reduce the reoperation rate caused by anastomotic leak.It is easy to operate.

Vitamin D is mainly produced in the liver, and chronic liver injury caused by various reasons will affect the metabolism of vitamin D, lead to vitamin D deficiency, and accelerate disease progression. Recent studies have confirmed that in patients with liver cirrhosis, the degree of vitamin D deficiency is closely associated with the severity and complications of liver cirrhosis. This article introduces the role of vitamin D and vitamin D receptor in the evaluation and treatment of liver cirrhosis and points out that vitamin D helps to evaluate the severity of liver cirrhosis and may become a new point and an important drug for the treatment of liver cirrhosis.

Objective To determine the effect of primary realignment of posterior urethral injury associated with pelvic fracture on length and delayed operative treatment of ensuing urethral stricture.Methods A retrospective review was made on the clinical data of 64 patients with posterior urethral injury after pelvic fracture treated from January 2008 to January 2012.Of those patients,43 underwent primary endoscopic realignment (early realignment group) and 30 received primary suprapubic cystostomy (cystostomy group).All were evaluated postoperatively for the late stricture rate,stricture length,types of delayed repair,and operation frequency.Results Rate of stricture was 53％ (18/34) in early realignment group and 100％ (30/30) in cystostomy group,but all were corrected by delayed urethroplasty.Mean length of the stricture was (1.8±0.6) cm in early realignment group and (2.9±0.7)cm in cystostomy group(t=6.7,P＜0.05).Of the urethrostenosis patients in early realignment group,83％ (15/18) were successfully corrected with a simple endoscopic cold incision and 17％ (3/18) with open surgery.In contrast,only 60％ (18/30) in cystostomy group were successfully corrected by endoscopic cold incision.Patients in cystostomy group underwent (2.8 ± 0.5) procedures for cure compared with (1.6 ± 0.6) procedures in early realignment group (t =9.2,P＜0.05).Conclusion Primary endoscopic realignment for posterior urethral injury pelvic fracture offers the decrease in stricture incidence,stricture length,operation difficulty and operation frequency.