Objective:To investigate two cases of rare pathogenic genes,initiation codon mutations in HBA2 gene,combined with Southeast Asian deletion and their family members to understand the relationship of HBA2:c.2T＞C and HBA2:c.2delT mutations with clinical phenotype.Methods:The peripheral blood of family members was obtained for blood cell analysis and capillary electrophoresis hemoglobin analysis.Gap-PCR and reverse dot blotting(RDB)were used to detect common types of mutations in α-thalassaemia gene.Sanger sequencing was used to analyze HBA1 and HBA2 gene sequence.Results:Two proband genotypes were identified as--SEA/αα with HBA2:c.2T＞C and--SEA/αα with HBA2:c.2delT.HBA2:c.2T＞C/WT and HBA2:c.2delT/WT was detected in family members.They all presented with microcytic hypochromic anemia.Conclusion:When HBA2:c.2T＞C and HBA2:c.2delT are heterozygous that can lead to static α-thalassemia phenotype,and when combined with mild α-thalassemia,they can lead to the clinical manifestations of hemoglobin H disease.This study provides a basis for genetic counseling.

Objective:To perform molecular diagnosis and pedigree analysis for one case with α-thalassemia who does not conform to the genetic laws,and explore the effects of a newly discovered rare mutation(HBA2:c.*12G＞A)on clinical phenotypes.Methods:Blood samples of the proband and her family members were collected for blood routine analysis,and the hemoglobin components were analyzed by capillary electrophoresis.The common α-and β-globin gene loci in Chinese population were detected by conventional techniques(Gap-PCR,RDB-PCR).The α-globin gene sequences(HBA1,HBA2)were analyzed by Sanger sequencing.Results:By analyzing the test results of proband and her family members,the genotype of the proband was-α3,7/HBA2:c.*12G＞A,her father was HBA2:c.*12G＞A heterozygous mutation carrier.Conclusion:This study identifies a rare α-globin gene mutation(HBA2:c.*12G＞A)that has not been reported before.It is found that heterozygous mutation carriers present with static α-thalassemia.

In the field of dental aesthetics,digital aesthetic design plays a crucial role in helping dentists to predict treatment outcomes vis-ually,as well as in enhancing the consistency of knowledge and understanding of aesthetic goals between dentists and patients.It serves as the foundation for achieving ideal aesthetic effects.However,there is no clear standard for this digital process currently in China and abroad.Many dentists lack of systematic understanding of how to carry out digital aesthetic design for treatment.To establish standardized processes for dental aesthetic design and to improve the homogeneity of treatment outcomes,Chinese Society of Digital Dental Industry(CSD-DI)convened domestic experts in related field to compile this consensus.This article elaborates on the key aspects of digital aesthetic data collection,integration steps,and the digital aesthetic design process.It also formulates a decision tree for dental aesthetics at macro level and outlines corresponding workflows for various clinical scenarios,serving as a reference for clinicians.

The content of total flavonol glycosides in Ginkgo Folium in the planting bases was determined by high performance liquid chromatography(HPLC).The samples were extracted by reflux with methanol-25% hydrochloric acid.The HPLC conditions were as follows: Agilent ZORBAX SB-C_(18) column(4.6 mm×250 mm, 5 μm), isocratic elution with mobile phase of 0.4% phosphoric acid solution-methanol(45∶55), flow rate of 1 mL·min~(-1), column temperature of 30 ℃, detection wavelength of 360 nm, and injection vo-lume of 10 μL.A method for the determination of terpene lactones in Ginkgo Folium was established based on ultra-high performance liquid chromatograph-triple-quadrupole/linear ion-trap tandem mass spectrometry(UPLC-QTRAP-MS/MS).The UPLC conditions were as below: gradient elution with acetonitrile-0.1% formic acid, flow rate of 0.2 mL·min~(-1), column temperature of 30 ℃, sample chamber temperature of 10 ℃, and injection volume of 10 μL.The ESI~+and multiple reaction monitoring(MRM) were adopted for the MS.The above methods were used to determine the content of total flavonol glycosides and terpene lactones in 99 batches of Ginkgo Folium from 6 planting bases, and the results were statistically analyzed.The content of flavonoids and terpene lactones in Ginkgo Folium from different origins, from trees of different ages, harvested at different time, from trees of different genders, and processed with different methods was compared.The results showed that the content of total flavonol glucosides in 99 Ginkgo Folium samples ranged from 0.38% to 2.08%, and the total content of the four terpene lactones was in the range of 0.03%-0.87%.The method established in this study is simple and reliable, which can be used for the quantitative analysis of Ginkgo Folium.The research results lay a basis for the quality control of Ginkgo Folium.
Chromatography, High Pressure Liquid/methods* ; Flavonoids/analysis* ; Flavonols ; Ginkgo biloba ; Glycosides/analysis* ; Lactones/analysis* ; Methanol ; Plant Leaves/chemistry* ; Tandem Mass Spectrometry/methods* ; Terpenes/analysis* ; Trees

OBJECTIVE: To proceed the clinical evaluation of DNA microarray for thalassemia gene detection. METHODS: Peripheral blood samples of 166 thalassemia gene test subjects were collected and tested for thalassemia genes by microarray chip method and Gap-PCR method combined with PCR-reverse dot blot hybridization method according to double-blind control test. The specificity, sensitivity, positive predictive value, negative predictive value, and total coincidence rate of the microarray chip method were evaluated. When the two methods were inconsistent, multiplex ligation dependent probe amplification (MLPA) was used to verify the deletional α-thalassemia. RESULTS: Compared with Gap-PCR method, specificity, sensitivity, positive predictive value, negative predictive value, Youden index, and total coincidence rate of microarray chip method was 100% (70/70), 96.88% (93/96), 100% (93/93), 95.89% (70/73), 0.969, and 97.59% (162/166), respectively, while compared with PCR-reverse dot blot hybridization method was 100% (125/125), 100% (41/41), 100% (41/41), 100% (125/125), 1, and 100% (166/166), respectively. CONCLUSION The microarray chip method for α-thalassemia gene detection shows the advantages of high specificity, sensitivity, and throughput.
Genetic Testing ; Humans ; Multiplex Polymerase Chain Reaction ; Oligonucleotide Array Sequence Analysis ; alpha-Thalassemia/genetics*

OBJECTIVE: To perform dried blood spots thalassemia gene detection in patients with positive blood phenotypes by microarray technology, and evaluate its value in clinical detection. METHODS: DNA samples were extracted from dried blood spots of 410 patients. Microarray technology was used to detect 3 deletion and 3 non-deletion types of α-thalassemia and 19 β-thalassemia point mutations which were common gene mutions in China. RESULTS: There were 357 positive cases in all the 410 tested samples with the positive rate 87.07%, among which 299 cases (72.93%) carried deletion or point mutations of α-thalassemia, 29 cases (7.07%) carried point mutations of β-thalassemia and 29 cases (7.07%) carried gene mutations of complex αβ-thalassemia syndrome. The mutations of α-thalassemia were involved with -- CONCLUSION The most common genetic mutations are --
China ; Humans ; Mutation ; Oligonucleotide Array Sequence Analysis ; alpha-Thalassemia/genetics* ; beta-Thalassemia/genetics*

Objective: To compare the postoperative function, the short-term and long-term outcomes between fascia-oriented and vascular-oriented lateral lymph node dissection (LLND) in patients with rectal cancer. Methods: A retrospective cohort study was performed. Clinical data of patients who received total mesorectal excision (TME) with LLND at National Cancer Center, Cancer Hospital of Chinese Academy of Medical Science from January 2014 to December 2019 were retrospectively collected. Inclusion criteria were as follows: (1) rectal cancer was pathologically diagnosed, and the lower margin was below the peritoneal reflection. (2) resectable advanced rectal cancer with suspected lateral lymph node metastasis was evaluated based on rectal MRI assessment. (3) preoperative MRI showed lateral lymph node short diameter ≥5 mm and/or lymph node morphology (spike, blur, irregular) as well as heterogenous signal intensity. Lymph node shrinkage was less than 60% after receiving neoadjuvant therapy based on the reassessment of rectal MRI. (4) TME+LLND surgery was performed synchronously. Exclusion criteria were as follows: (1) previous history of pelvic surgery; (2) preoperative cystitis, urethritis, moderate and severe prostatic hyperplasia and other diseases resulting in abnormal urination function; (3) preoperative sexual dysfunction or loss of function; (4) patients receiving LLND due to lateral recurrence after TME; (5) distant metastasis of the tumor at initial diagnosis; (6) Incomplete collection of clinical data. A total of 73 consecutive patients were enrolled in this study. Based on the surgical approaches in performing LLND, patients were divided into fascia-oriented group (n=30) and vascular-oriented group (n=43). There were no significant differences in baseline data between the two groups (all P>0.05). The main outcome indicators of this study were the incidence of postoperative urinary and male sexual dysfunction, the efficacy, the number of lateral lymph nodes harvested and the detection rate of positive lymph nodes. Overall survival (OS) rates and progression free survival (PFS) rates were calculated by the Kaplan-Meier method and compared by log-rank test. Results: All patients in both groups completed surgery successfully. There were no significant differences in operation time, intraoperative blood loss, postoperative complications, and the length of hospital stay between the two groups (all P>0.05). In the whole group, the incidence of postoperative urinary dysfunction and male sexual dysfunction was 43.8% (32/73) and 62.5% (25/40), respectively. The median number of lateral lymph nodes harvested was 8.0(4.0,11.0) with a positive rate of 20.5%(15/73). Compared to the vascular-oriented group, the fascia-oriented group demonstrated a decreased rate of urinary dysfunction [26.7% (8/30) vs. 55.8% (24/43), χ(2)=6.098, P=0.014], lower rate of sexual dysfunction in males [6/15 vs. 76% (19/25), χ(2)=5.184, P=0.023], more harvested lateral lymph nodes [M (P25, P75): 9.5 (6.8, 15.3) vs. 6.0 (3.0, 9.0), Z=-2.849, P=0.004]. There was no significant difference in the positvie rate of lateral lymph nodes between the two groups [20% (6/30) versus 20.9% (9/43), χ(2)=0.009, P=0.923]. Three(4.1%) patients were lost during a median follow-up of 34 (1-66) months. The 3-year PFS and OS of the whole cohort were 69.5% and 88.3%, respectively. No significant difference in 3-year PFS rates (79.6% vs. 62.0%, P=0.172) and 3-year OS rates (91.2% vs. 85.9%, P=0.333) were observed between the fascia-oriented group and the vascular-oriented group (both P>0.05). Conclusion: Fascia-oriented LLND is associated with lower risk of postoperative urinary and male sexual dysfunction in patients with rectal carcinoma, and harvest of more lymph nodes, but no significant advantage in long-term survival.
Fascia ; Humans ; Lymph Node Excision ; Lymph Nodes ; Male ; Neoplasm Recurrence, Local ; Rectal Neoplasms/surgery* ; Retrospective Studies ; Treatment Outcome

Objective To observe the effect of complement fragment C3f on synthesis of α-smooth muscle actin (α-SMA) in human embryonic lung fibroblasts (MRC-5).Methods MRC-5 was cultured with C3f of different concentrations (15.6,62.5,250 ng · mL-1) in low,moderate and high dosage experimental groups.And a positive control of 10 ng· mL-1 transforming growth factor-β1 (TGF-β1) and a negative control of 0 ng · mL-1 C3f were also set up for comparative study.Then α-SMA was detected by immunohistochemistry.Results The moderate dose experimental group and positive control group stimulates the synthesis of α-MRC-5 cell SMA with no statistical difference (7.46 ±0.66 vs 7.54 ±0.51,P ＞0.05).It demonstrated that C3f can stimulate the function of MRC-5 on synthesis of α-SMA.With the increase of C3f concentration,the expression of intracellular α-SMA in three doses experimental groups were increased for 4.95 ± 0.78,7.46 ±0.66 and 9.23 ±0.21,respectively,significant differences in three doses experimental groups (all P ＜ 0.05).Moreover,the concentration of C3f was positively correlated with the expression of α-SMA (P ＜ 0.05).C3f has the function of promoting the expression of α-SMA in MRC-5.Conclusion Complement fragment C3f can stimulate the synthesis of α-SMA in MRC-5 cells.

OBJECTIVETo analyze the clinical features of patients with gallbladder cancer from 17 hospitals in 5 Northwestern provinces (autonomous region) of China from 2009 to 2013.

METHODSA total of 2 379 cases with gallbladder cancer in 17 tertiary hospitals from 5 Northwestern provinces of China from January 2009 to December 2013 were reviewed retrospectively. The clinical data was collected by standardized "Questionnaire for Clinical Survey of Gallbladder Cancer in Northwestern Area of China". χ² test was used to analyze the data.

RESULTS(1) Gallbladder cancer from 17 hospitals accounted for 1.6%-6.8% of all bile tract diseases from 2009 to 2013 in Northwestern China, average was 2.7%. Gallbladder cancer accounted for 0.4%-0.9% of abdominal surgery, average was 0.7%. (2) The incidence of gallbladder cancer was higher in the aged females, the ration of female to male was 1.0 to 2.1. The average age of gallbladder cancer was (64 ± 11) years. The occupation of patients was mainly farmers (χ² = 147.10, P < 0.01). (3) 57.2% of the gallbladder cancers were associated with gallstones. (4) The main pathological patterns of gallbladder cancer were moderate and poor differentiated adenocarcinoma, showing an aggressive malignancy. TNM stage IV accounted for 55.1% of all cases, which was associated with the poor prognosis. (5) The curative resection rate was 30.4%.

CONCLUSIONSGallbladder cancer is common in the aged females and mainly at advanced stage. The screening and follow-up of high-risk groups with ultrasound and other methods regularly could increase the early diagnosis rate of gallbladder cancer, aggressive surgical resection combined with other comprehensive treatment could improve the prognosis of patients.

Adenocarcinoma ; epidemiology ; pathology ; Aged ; China ; epidemiology ; Female ; Gallbladder Neoplasms ; epidemiology ; pathology ; Gallstones ; epidemiology ; Humans ; Incidence ; Male ; Middle Aged ; Prognosis ; Retrospective Studies

OBJECTIVETo explore the correlation between the exposure levels and serum protein fingerprints in population exposed to silica.

METHODSLiquid chip time-of-flight mass spectrometry technology was used to investigate the serum profiles in control group (30 cases), group exposed to silica (30 cases), silicosis group (I stage, 25 cases) and suspected silicosis group (30 cases), and screen the differential expression proteins. The correlation between the levels of the differential expression proteins and the exposure levels was performed.

RESULTSFive differential expression proteins were found among 4 groups, the expression of 5081 and 5066 proteins was upregulated, and the expression of 3954, 2021 and 1777 proteins was downregulated. There was no the correlation between the exposure levels and the peak with M/Z among those proteins.

CONCLUSIONthe results of present investigation indicated there was no correlation between the exposure levels and protein/peptide peak.

Adult ; Blood Proteins ; analysis ; Case-Control Studies ; Dust ; analysis ; Female ; Humans ; Male ; Mass Spectrometry ; Middle Aged ; Occupational Exposure ; analysis ; Peptide Mapping ; Proteomics ; Silicon Dioxide ; toxicity ; Silicosis ; blood