Gene Mutation Types of Thalassemia in Chongzuo Childbearing-age Population of Guangxi Zhuang Autonomous Region of China / 中国实验血液学杂志

OBJECTIVE@#To investigate the gene mutation and genotype distribution of thalassemia in the population of childbearing age in Chongzuo area of Guangxi.@*METHODS@#Six α-thalassemia and 17 β-thalassemia gene mutations common in Chinese were detected by gap-polymerase chain reaction (gap-PCR) combined with agarose gel eletrophoresis and reserve dot bolt hybridization in 29 266 cases of child-bearing age suspected of thalassemia.@*RESULTS@#A total of 19 128 (65.36%) cases were identified with thalassemia. The detection rate of α-thalassemia, β-thalassemia and α-combining β-thalassemia was 45.25% (13 242/29 266), 15.47% (4 526/29 266) and 4.65% (1 360/29 266), respectively. A total carrying rate of 8 kinds of α-thalassemia gene mutations was 26.74% (15 649/58 532), including 12.51% for --SEA, followed by 5.70% for -α3.7, and 0.24% for --Thai. Among 32 α-thalassemia genotypes, the most common five were --SEA/αα, -α3.7/αα, αCSα/αα, -α4.2/αα and αWSα/αα, accounting for 47.27%, 18.31%, 8.56%, 8.52% and 7.91%, respectively, as well as 0.97% for --Thai/αα. A total carrying rate of 13 kinds of β-thalassemia gene mutations was 10.07% (5 897/58 532), including 3.63% for CD41-42, followed by 2.55% for CD17, and 0.003% for -50 (G>A). Among 17 β-thalassemia genotypes, the most common six were CD41-42/N, CD17/N, CD71-72/N, CD26/N, 28/N and IVSI-1/N, accounting for 36.15%, 25.81%, 9.43%, 8.18%, 8.09% and 7.75%. The homozygous genotype CD26/CD26 [hemoglobin (Hb): 121 g/L] and -28/-28 (Hb: 56 g/L) were respectively detected in one case, and double heterozygous genotype were detected in 5 cases, including 3 cases of CD41-42/CD26 (Hb: 41 g/L, 51 g/L, 63 g/L, respectively), 1 case of -28/IVSI-1 (Hb: 53 g/L), and 1 case of CD71-72/CD26 (Hb: 89 g/L), in which patients with moderate or severe anemia had a history of blood transfusion. Among 104 α-combining β-thalassemia genotypes, the most common were --SEA/αα, -α3.7/αα combining CD41-42/N and --SEA/αα combining CD17/N, accounting for 12.13%, 9.63% and 9.26%, respectively. In addition, 1 case of --SEA/-α3.7 combining -28/IVSI-1 (Hb: 83 g/L) and 1 case of -α3.7/αα combining CD41-42/ CD41-42 (Hb: 110 g/L) were detected without history of blood transfusion, while 1 case of αWSα/αα combining CD41-42/CD17 (Hb: 79 g/L) and 1 case of --SEA/αα combining CD17/-28 (Hb: 46 g/L) were detected with history.@*CONCLUSIONS@#The detection rate of thalassemia genes is high and the mutations are diverse in the population of childbearing age in Chongzuo area of Guangxi. The common deletion genotype is --SEA/αα in α-thalassemia and CD41-42/N in β-thalassemia, and deletion genotype --Thai is not rare. There is a certain incidence of intermediate and severe β-thalassemia, and most patients require transfusion therapy. The results are beneficial for genetic consultation and intervention of thalassemia.

Analysis of the Pathogenesis and Treatment of Pulmonary Nodules based on the “Six Constraints” Theory / 中医杂志

Based on ZHU Zhenheng's “six constraints” theory， it is proposed that the formation of pulmonary nodules is closely related to the six constraints， which are constraint of qi， blood， phlegm， fire， dampness and food. All six constraints might lead to pulmonary nodules， among which qi constraint is the dominant one. When qi constraint lasts for a long time， it will turn into fire constraint， resulting in the failure of spleen to transport， which may lead to phlegm constraint， dampness constraint and food constraint； when qi fails to move blood， blood constraint is formulated. Mutual generation of six constraints lead to the disease， and the pathogenesis is interrelated， jointly promoting the occurrence and development of pulmonary nodules. The treatment is mainly to unblock qi， usually using Yueju Pills （越鞠丸）， a classic formula commonly used for six constraints， as the basic formula. And according to the six constraints partiality， it is suggested to flexibly add the medicinals of soothing the liver and rectifying qi， clearing heat and dissipating masses， dissolving phlegm and dissipating masses， fortifying spleen and dissipating dampness， promoting digestion and removing accumulation， invigorating blood and dissolving stasis.

Association rules between personality traits and health-promoting lifestyle in patients with glaucoma / 中华行为医学与脑科学杂志

Objective:To explore the association rules of personality traits and health-promoting lifestyle in patients with primary angle closure glaucoma, so as to provide advice for the synthetical treatment.Methods:From July to November 2021, a total of 117 primary angle closure glaucoma patients(acute patients n=89, chronic patients n=28) in ophthalmology department of five hospitals in Nanjing were investigated with type A behavior pattern scale, health-promoting lifestyle scale Ⅱ and general information questionnaire.Based on Weka 3.8.5, algorithm of Apriori was used to mine its association relationship. Results:(1) The total scores of type A behavior pattern scale for patients with acute and chronic types of primary angle closure glaucoma were (32.48±6.43) and (27.54±6.49) respectively.The total scores of health-promoting lifestyle scale Ⅱ were (101.69±11.83) and (97.79±7.78) respectively.(2) There were positive associations among patients with acute primary angle closure glaucoma, type A/A-personality (including impatience and hostility) and health-promoting lifestyle (including stress management disorder, interpersonal relationship management disorder, well sense of health responsibility and adequate dietary nutrition intake)(all support>0.1, confidence >0.6, lift >1.0). And patients with chronic primary angle closure glaucoma were associated with B/B-personality (including patience and mild), health-promoting lifestyle (including stress management disorder, interpersonal relationship management disorder, well sense of health responsibility and adequate dietary nutrition intake)(all support>0.1, confidence >0.6, lift >1.0).Conclusion:Primary angle closure glaucoma is strongly related with personality traits and health-promoting lifestyle.Its synthetical treatment plan should take both physical and mental measures, and classified health management for patients with different disease types.

Analysis of Saliva Microbiome in Patients with Esophageal Squamous Cell Carcinoma / 中山大学学报(医学科学版)

@#【Objective】To analyze the difference of salivary microbiome between patients with esophageal squamous cell carcinoma（ESCC group）and healthy controls（HC group），and to screen out the target bacteria in saliva of patients with esophageal squamous cell carcinoma. 【Methods】 Salivary samples were collected from 50 patients with esophageal squamous cell carcinoma and 40 healthy controls. Total DNA was extracted，16S rDNA V4 region was amplified by PCR，high-throughput sequencing was performed，and sequencing data was subjected to OUT clustering，species annotation and diversity analysis.【Results】Diversity analysis showed difference in the diversity of the salivary microbiome between the ESCC group and the HC group，but P > 0.05. Species analysis showed that the salivary microbiome in the ESCC group was dominated by Neisseria，Fusobacterium，Haemophilus，Prevotella and Porphyromonas，while Neisseria，Haemophilus， Prevotella，Fusobacterium and Veillonella were the top microbiota in the HC group. LEfse analysis showed that the expression of Porphyromonas in the ESCC group was elevated and the result had statistical significance.【Conclusion】Saliva in the patients with esophageal squamous cell carcinoma has characteristic microbiome composition. Compared with the squamous cell carcinoma is significantly increased，and the result is statistically significant(P < 0.05）.

Five Years' Outcomes of Trabeculectomy with Cross-linked Sodium Hyaluronate Gel Implantation for Chinese Glaucoma Patients / 中华医学杂志(英文版)

<p><b>Background</b>Trabeculectomy is the most efficient surgical treatment. Prevention failure of bleb cicatrix would lead to unsatisfactory postoperative intraocular pressure (IOP) controlling and unsatisfactory success rate. The aim of this study was to evaluate the 5-year outcomes of trabeculectomy with a cross-linked sodium hyaluronate gel implantation for Chinese glaucoma patients.</p><p><b>Methods</b>This is a prospective, case-controlled study. Patients who were to be applied first-time trabeculectomy in the Department of Ophthalmology of Peking University Third Hospital between 2010 and 2012 were included in the study. Totally, 60 eyes were randomly assigned to the trabeculectomy group (TA group) or the trabeculectomy with cross-linked sodium hyaluronate gel implantation group (TH group). Follow-up was finished at 1 week, 1 month, 3 months, 1 year, 3 years, and 5 years after the operation. The statistical index of demographic data, IOP, bleb shape, and any complications or medications or surgical procedures were recorded and assessed by SPSS 19.0 software through independent t-test, one-way analysis of variance (ANOVA) and Pearson's Chi-square test, respectively.</p><p><b>Results</b>The baseline IOP was comparable between the two groups (t= -1.00, P= 0.32) while the postoperative IOP was significantly lower in the TH group at 1, 3 and 5 years' time points (P = 0.00, P= 0.01 and P = 0.01, respectively). According to the Indiana Bleb Appearance Grading Scale, the height and extent of bleb were better in the TH group at all follow-up time points (P < 0.05), however, the comparison of bleb vascularity showed no statistical difference (P > 0.05). TA group had a higher percentage of complications (13% vs. 3%) compared to TH group; however, there was no statistical difference in the comparison of each statistical item (P > 0.05, respectively). The complete success at 5 years was higher in the TH group than that in the TA group (78% vs. 54%, P = 0.03).</p><p><b>Conclusion</b>Our results suggested that implantation of cross-linked sodium hyaluronate gel with trabeculectomy was more efficient and would improve the prognosis of glaucoma patients.</p>

Clinical and pathological features of 27 cases of primary sclerosing cholangitis / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To elucidate clinical and pathological features of primary sclerosing cholangitis (PSC) in order to improve clinician's awareness of this rare disease.</p><p><b>METHODS</b>We retrospectively analyzed clinical data and follow-up information of 27 PSC patients who were admitted to Beijing Friendship Hospital from January 1990 to November 2009. The patients were classified into classic PSC and small-duct PSC according to biochemistry and imaging results. After 3 to 6 months of therapy, those patients with serum ALT < or = 1.5, TBil < or = 2 and ALP < or = 2.5 ULN were determined as good responders. The treatment results between the two groups were compared.</p><p><b>RESULTS</b>9 out of 27 cases of PSC were small duct PSC and 18 cases were large bile duct or classic PSC. Male patients (7) were less than females (20) and the average age was 47.6 years. Main clinical symptoms included jaundice (85.2%), pruritis (48.1%),fatigue (68.4 %), abdominal pain (40.7%) and fever (14.8%), main physical sign included hepatomegaly (44.4%), splenomegaly (48.1 %) and ascites (14.8%). Laboratory features included elevated IgG (81.8%), positive ANA (69.6%) and pANCA (52.9%). 22% of these PSC patients had ulcerative colitis or Sjogren's syndrome. A small percentage of patients were responsive to standard therapy, of which small duct PSC had a better response than classic PSC (66.7 % vs 33.3%, P = 0.041).</p><p><b>CONCLUSIONS</b>Ulcerative colitis (22.2%) is not as common as reported by western countries. Small duct PSC has a better treatment response. Searching of effective treatment regimen for large bile duct PSC is warranted in future studies.</p>

Protective effect of emodin against lipopolysaccharides-induced corneal injury in rats / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To investigate the effect of emodin on lipopolysaccharides (LPS)-induced corneal injury in rats.</p><p><b>METHODS</b>Three parallel incisions on the central surface of corneal epithelium were made and LPS was applied on them to induce corneal injury in Wistar rats. All rats were randomly divided into emodin group (n=40) and keratitis group (n=40). Rats in the emodin group received subconjunctival injection of emodin and rats in the keratitis group received its vehicle 30 minutes before LPS exposure. At different time points--1, 3, 6, 12, and 24 hours after LPS exposure, the symptoms of all rats were observed and the severity of their ocular inflammation was examined with a slit lamp microscope, then 8 rats in each group were killed through cervical dislocation and their eyes were enucleated and prepared to observe pathological changes of corneal tissue under a light microscope. The activation of nuclear factor-kappaB (NF-kappaB) under different conditions was determined by Western blot. Immunocytochemistry staining with an antibody against intercellular adhesion molecule-1 (ICAM-1) was performed to identify positive cells in corneal tissues.</p><p><b>RESULTS</b>The model of acute keratitis was successfully established in Wistar rats. LPS could induce a typical corneal inflammatory response, such as hyperemia, corneal edema and opacity, which were observed in model rats. Compared with keratitis group, both ocular behaviors and damages of the corneal structure were improved in emodin group. Furthermore, the activation of NF-kappaB and the expression of ICAM-1 induced by LPS were markedly inhibited in emodin group.</p><p><b>CONCLUSION</b>Emodin can inhibit the activation of NF-kappaB and the expression of ICAM-1 induced by LPS in corneas, protect against acute corneal injury, and improve symptoms in rats.</p>

Epidemiological investigation and genotype of thalassemia on middle school students in Chongzuo, Guangxi / 中华流行病学杂志

Objective To investigate the carrier ratio and the genotype of thalassemia among students of secondary school in Chongzuo, Guangxi. Methods From June 10-20,2008 among 7 regions of Chongzuo, 1 secondary school was randomly chosen from each region, and the number of student volunteers was determined by 0.5‰ proportion of the local population size. 1097 students were screened, including 515 boys and 582 girls of 12-16 year olds. Among them, 968 cases were Zhuang (438 boys and 530 girls) 128 cases were Han (76 boys and 52 girls) and one case was Yao nationalities (boy). Analysis of blood cells was detected by Cell Dyn 1700 automatic hemocyte analysator while hemoglobin F (HbF) and hemoglobin A2 (HbA2) were detected by hemoglobin autoanalyse variant. Among those with HbA2≥ 4% that belonged to β-thalassemia before α and β-thalassemia gene were analyzed to identify the genotypes. IfHbA2 was <4% but MCV≤80 fl, α-thalassemia gene was analyzed. Results Among 1097 cases,218 wereα-thalassemia (19.87%), 50 were β-thalassemia (4.56%) and 13 were combination of α β-thalassemia (1.19%). The overall detected ratio was 25.62%. 133 cases with thalassemia were boys (25.83%) and 148 were girls (25.43%) with no significant difference(P>0.05). 255 cases of thalassemia were Zhuang (26.34%), and 25 were Han nationality (19.52%). The detected ratio among Zhuang nationality was higher than in Hun nationality and with significant difference statistically (P<0.01). 3 kinds of deletion (-α3.7/,-α<4.2>/, --SEA/) and another 3 kinds of non-deletion (αα CS/, αα WS/, αα QS/) α-thalassemia genotype were identified, with a higher rate of ααWS/. Among the β-thalassemia genotype, CD41-42 appeared the most common genotype. MCV of thalassemia was lower than in the controls, with significant difference (P<0.01). 78-90 fl of α-thalassemia was detected from the MCV specimen. If taken MCV<79 fl as the positive phenotype of thalassemia, 32 cases were misdiagnosed. The rate of missed diagnosed cases was 2.97%. Conclusion Rate of thalassemia carder among students of secondary school in Chongzuo, Guangxi was considered to be high, especially those belonged to Zhuang nationality were higher than the Hans. The carrier rate of ααWS/was higher, with CD41-42 the most common genotype.

Effects of emodin on expression of cytokines induced by lipopolysaccharide in corneal fibroblasts / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the effects of emodin on expression of cytokines induced by lipopolysaccharide (LPS) in cultured human corneal fibroblasts in vitro.</p><p><b>METHODS</b>Primary human corneal fibroblasts of passages 4 were used in this research. Cells were treated with 10 microg/L LPS for 1, 2, 4, or 8 hours, which were pretreated with or without emodin for 30 minutes before LPS challenge. The degeneration of inhibitor of kappaB-alpha (I kappaB-alpha) and the effect of emodin on it were analyzed by Western blot analysis with a specific antibody. The cellular abundance of the mRNA of interleukin (IL)-6 and IL-8 from corneal fibroblasts under different conditions was determined by reverse transcriptase polymerase chain reaction (RT-PCR).</p><p><b>RESULTS</b>Compared with cells without LPS treatment, I kappaB-alpha level significantly decreased in every time point after LPS challenge (P < 0.01). Emodin inhibited the LPS-induced degeneration of I kappaB-alpha by corneal fibroblasts in a dose-dependent manner (P < 0.05). Compared with cells without LPS treatment, the expressions of IL-6 and IL-8 mRNA significantly increased in every time point after LPS challenge (P < 0.01). At the same time, the expressions of the mRNA of IL-6 and IL-8 induced by LPS in corneal fibroblasts were also inhibited by emodin in a dose-dependent manner (P < 0.05).</p><p><b>CONCLUSION</b>Emodin can inhibit the expressions of IL-6 and IL-8 mRNA induced by LPS in corneal fibroblasts, which maybe via inhibiting the degeneration of I kappaB-alpha and suppressing the activation of nuclear factor-kappaB.</p>

Expression of focal adhesion kinase in cardiac myocytes of hypertrophic ventricle / 中华病理学杂志

<p><b>OBJECTIVES</b>To investigate the role of focal adhesion kinase (FAK) in the pathogenesis of cardiac hypertrophy induced by hypertension.</p><p><b>METHODS</b>Using immunofluorescent labeling, confocal microscopy and Western blotting, the expression and subcellular localization of FAK in the cardiac myocytes of left ventricle were determined in 2, 6, 12, and 18 month-old rats with spontaneously hypertensive heart failure (SHHF) along with age-matched control Wistar-Kyoto (WKY) rats.</p><p><b>RESULTS</b>There was no significant difference of FAK expression between 2 month-old SHHF and WKY rats (50.5+/-6.9 vs. 49.8+/-5.0, n=6, P>0.05). In contrast with the control groups, the expression of FAK significantly increased in 6, 12 and 18 month-old SHHF rats (130.6+/-3.0 vs. 47.3+/-1.3, 144.7+/-5.4 vs. 46.4+/-3.1, 141.4+/-9.8 vs. 48.5+/-2.2, each groups n=6, P<0.05) with FAK protein primarily cumulated in the intercalated disks and nuclei.</p><p><b>CONCLUSIONS</b>FAK may play a role in the cell signaling transduction leading to cardiac hypertrophy, presumably through regulations of hypertrophic gene transcription and RNA processing.</p>