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1.
Journal of Clinical Hepatology ; (12): 2763-2769, 2023.
Article in Chinese | WPRIM | ID: wpr-1003263

ABSTRACT

Dyspepsia due to pancreatic exocrine insufficiency is a common complication after pancreatectomy; however, due to the lack of simple, efficient, and unified diagnostic methods, standardized treatment standards, and awareness of this disease among surgeons, it is difficult to get adequate diagnosis and treatment. Therefore, this article summarizes the research advances in the definition and pathogenesis of pancreatic exocrine insufficiency, the incidence rate of pancreatic exocrine insufficiency after different surgical procedures, and current diagnostic methods and treatment strategies, in order to provide a reference for further improving the diagnosis and treatment of pancreatic exocrine insufficiency after pancreatectomy.

2.
Chinese Journal of Surgery ; (12): 511-518, 2023.
Article in Chinese | WPRIM | ID: wpr-985792

ABSTRACT

Objective: To explore the development of the pancreatic surgeon technique in a high-volume center. Methods: A total of 284 cases receiving pancreatic surgery by a single surgeon from June 2015 to December 2020 were retrospectively included in this study. The clinical characteristics and perioperative medical history were extracted from the medical record system of Zhongshan Hospital,Fudan University. Among these patients,there were 140 males and 144 females with an age (M (IQR)) of 61.0 (16.8) years(range: 15 to 85 years). The "back-to-back" pancreatic- jejunal anastomosis procedure was used to anastomose the end of the pancreas stump and the jejunal wall. Thirty days after discharge,the patients were followed by outpatient follow-up or telephone interviews. The difference between categorical variables was analyzed by the Chi-square test or the CMH chi-square test. The statistical differences for the quantitative data were analyzed using one-way analysis of variance or Kruskal-Wallis H test and further analyzed using the LSD test or the Nemenyi test,respectively. Results: Intraoperative blood loss in pancreaticoduodenectomy between 2015 and 2020 were 300,100(100),100(100),100(0),100(200) and 150 (200) ml,respectively. Intraoperative blood loss in distal pancreatectomy was 250 (375),100 (50),50 (65), 50 (80),50 (50),and 50 (100) ml,respectively. Intraoperative blood loss did not show statistical differences in the same operative procedure between each year. The operative time for pancreaticoduodenectomy was respectively 4.5,5.0(2.0),5.5(0.8),5.0(1.3),5.0(3.3) and 5.0(1.0) hours in each year from 2015 to 2020,no statistical differences were found between each group. The operating time of the distal pancreatectomy was 3.8 (0.9),3.0 (1.5),3.0 (1.8),2.0 (1.1),2.0 (1.5) and 3.0(2.0) hours in each year,the operating time was obviously shorter in 2018 compared to 2015 (P=0.026) and 2020 (P=0.041). The median hospital stay in 2020 for distal pancreatectomy was 3 days shorter than that in 2019. The overall incidence of postoperative pancreatic fistula gradually decreased,with a incident rate of 50.0%,36.8%,31.0%,25.9%,21.1% and 14.8% in each year. During this period,in a total of 3,6,4,2,0 and 20 cases received laparoscopic operations in each year. The incidence of clinically relevant pancreatic fistula (grade B and C) gradually decreased,the incident rates were 0,4.8%,7.1%,3.4%,4.3% and 1.4%,respectively. Two cases had postoperative abdominal bleeding and received unscheduled reoperation. The overall rate of unscheduled reoperation was 0.7%. A patient died within 30 days after the operation and the overall perioperative mortality was 0.4%. Conclusion: The surgical training of a high-volume center can ensure a high starting point in the initial stage and steady progress of pancreatic surgeons,to ensure the safety of pancreatic surgery.


Subject(s)
Male , Female , Humans , Pancreatic Fistula/surgery , Retrospective Studies , Blood Loss, Surgical , Pancreatectomy/methods , Pancreaticoduodenectomy , Postoperative Complications , Surgeons , Postoperative Hemorrhage , Pancreatic Neoplasms/surgery
3.
Journal of Zhejiang University. Science. B ; (12): 971-984, 2021.
Article in English | WPRIM | ID: wpr-922557

ABSTRACT

Basophils, which are considered as redundant relatives of mast cells and the rarest granulocytes in peripheral circulation, have been neglected by researchers in the past decades. Previous studies have revealed their vital roles in allergic diseases and parasitic infections. Intriguingly, recent studies even reported that basophils might be associated with cancer development, as activated basophils synthesize and release a variety of cytokines and chemokines in response to cancers. However, it is still subject to debate whether basophils function as tumor-protecting or tumor-promoting components; the answer may depend on the tumor biology and the microenvironment. Herein, we reviewed the role of basophils in cancers, and highlighted some potential and promising therapeutic strategies.

4.
Chinese Medical Sciences Journal ; (4): 71-84, 2020.
Article in English | WPRIM | ID: wpr-1008967

ABSTRACT

Objective To investigate the association between the methylenetetrahydrofolate reductase gene C677T (MTHFR C677T) polymorphism and diabetic retinopathy (DR). Methods A total of 6971 subjects including 2707 DR patients and 4264 controls from 23 studies were enrolled in the study. A random-effects model was applied to estimate the overall effects and the stratified effects of the MTHFR C677T polymorphism on the risk of DR, and study quality was also assessed. Results Strong associations were observed between the MTHFR C677T polymorphism and DR. The carries of MTHFR C677T were more likely to be found in the DR group in relative to the healthy control group with odds ratio 1.68, 2.55, and 2.31 respectively in allele contrast model (T vs. C, 95%CI: 1.29-2.18, P<0.001, I 2=78.4%), homozygous model (TT vs. CC, 95%CI: 1.70-3.83, P=0.008, I 2=54.4%) and dominant model (TT+CT vs. CC, 95%CI: 1.62-3.29, P<0.001, I 2=74.7%). This association can also be found in contrast to the Ncd (non-complicated diabetic mellitus) group (allele contrast, OR=1.50, 95%CI: 1.07-2.11, P=0.032, I 2=62.1%; homozygous, OR=2.39, 95%CI: 1.06-5.38, P=0.017, I 2=66.7%; dominant, OR=1.59, 95%CI: 0.97-2.62, P=0.056, I 2=56.5%). For the heterozygous model (CT vs. CC), the association was significant in contrast to the healthy control group (OR=1.46, 95%CI: 1.64-3.69, P=0, I 2=77.3%), while in contrast to the Ncd control group the association was not statistically meaningful (OR=1.38, 95%CI: 0.87-2.18, P=0.131, I 2=43.7%). For the recessive model, 1.92-fold increased risk was found only in contrast to the Ncd control group (95%CI: 1.07-3.43, P=0.064, I 2=55.0%). There was no significant association found in the models in contrast to the DM control group. Conclusion In this meta-analysis, we found an association between the MTHFR C677T polymorphism and DR, especially in contrast to the Ncd control group. Further studies are required to establish more definite relationship.


Subject(s)
Female , Humans , Male , Alleles , Diabetic Retinopathy/genetics , Gene Frequency , Genetic Predisposition to Disease/genetics , Genotype , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Single Nucleotide
5.
Journal of Medical Postgraduates ; (12): 1150-1157, 2019.
Article in Chinese | WPRIM | ID: wpr-818158

ABSTRACT

Objective The human glioblastoma (GBM) U87 cell line is employed as a model for studying the heterogeneity of GBM. This study was to examine the phenotypic profiles and genetic backgrounds of different monoclonal cells derived from the human GBM U87 cell line and explore the molecular mechanisms underlying the phenotypic difference. Methods Using the finite dilution method labeled with 5(6)-carboxyfluorescein diacetate N-hydroxy succinimidyl ester (CFSE), we constructed the monoclonal cell lines CF5 and G11 with typical morphological characteristics derived from the human GBM U87 cell line and identified them by short tandem repeat (STR). We detected the proliferation of the cells by CCK8 assay, EdU incorporation and colony-formation assay, their self-renewal capability by tumor sphere formation assay, their adhesion ability by immunofluorescence and CCK8 adhesion assay, their invasion ability with a 3D culture model, and their sensitivity to chemotherapeutic agents by Annexin V/PI double-staining flow cytometry. We performed transcriptome sequencing and bioinformatics analysis on the genetic profiles and determined the mRNA expressions of the representative differential genes in the enriched pathway by real-time quantitative PCR (qRT-PCR). Results The CF5 and G11 monoclonal cell lines morphologically typical of U87 were successfully constructed, the former small, short and thick, while the latter big, long and thin. Compared with the U87 and G11 cell lines, the CF5 cells showed a significantly higher proliferation ability (P < 0.01), though higher in the U87 than in the G11 cell line, a higher proportion of EdU-positive cells (0.35 ± 0.03 and 0.44 ± 0.03 vs 0.54 ± 0.05, P < 0.01), though higher in the U87 than in the G11 cell line, and a higher tumor-sphere formation ability (P < 0.01), though higher in the U87 than in the G11 cell line. In comparison with the U87 and CF5 cell lines, the G11 cells exhibited remarkably higher abilities of adhesion (P < 0.01) and invasion (P < 0.05), though both higher in the U87 than in the CF5 group. Totally, 159 genes were down-regulated and 303 up-regulated in the CF5 cells compared with those in the U87 and G11 cells, while 281 were down-regulated and 116 up-regulated in the G11 cells compared with those in the CF5 and U87 cells. The CF5 and G11 cells manifested the highest enrichment in the extracellular matrix-associated pathways, which were shown to be closely associated with the invasiveness and drug-resistance of the tumor. Conclusion We successfully constructed human GBM U87-derived monoclonal cell lines CF5 and G11 with different morphological features, phenotypic profiles and genetic backgrounds, which has paved the ground for further studies of the heterogeneity of GBM.

6.
Chinese Journal of Digestive Surgery ; (12): 442-444, 2018.
Article in Chinese | WPRIM | ID: wpr-699143

ABSTRACT

Pancreatic malignant tumor with more complex diagnosis and treatment is one of digestive system tmnors,especially pancreatic cancer (PC) continues to have high malignancy and poor curative effect and prognosis."Pancreas" conference is currently held every.two years,and it is acknowledgedas a distinguished gathering of the pancreatic tumor field through showing abundant leading-edge achievements.Authors summarized contents and features of the Pancreas 2018 conference sponsored by Johns Hopkins Hospital,and made some analyses based on translational medicine,evidence-based medicine,multidisciplinary team,new surgical technology and domestic teams' harvests,meanwhile,they also will disseminate and share leading-edge information with domestic doctors,and provide new ideas for diagnosis and treatment of PC and basic and clinical researches.

7.
Chinese Journal of General Surgery ; (12): 149-151, 2018.
Article in Chinese | WPRIM | ID: wpr-710515

ABSTRACT

Objective To investigate the cytidine triphosphate synthetase 1 (CTPS1) expression in pancreatic cancer cell lines and its impaction on prognosis.Methods The GEO profiles database was searched to collect clinical data of 39 patients of pancreatic ductal adenocarcinoma.Kaplan-Meier curve was used to analyze the relationship between the patients' prognosis and the expression of CTPS1.qPCR and Western blot were applied to detect the expression of CTPS1 in 4 pancreatic cancer cell lines.Results The mRNA expression of CTPS1 in Sw1990,BxPC-3,Panc1,and MIA-Capa2 was 1.00) ± 0.20,2.92±0.95,4.29±0.14,and 2.26±0.33 (t=-16.19,-11.45,-8.09,-13.12,P<0.05) when compared to the normal pancreatic ductal epithelial cell line HPDE of 7.70 ± 0.72.The relative protein expression of CTPS1 in pancreatic cancer cell lines Sw1990,BxPC-3,Panc1,and MIA-Capa2 was 0.40 ± 0.06,0.20±0.09,0.68±0.11,and0.48±0.06 (t=-8.97,-10.5,-4.39,-7.88,P<0.05) when compared to HPDE of 1.09 ±0.12.The overall survival (OS) in patients with higher CTPS1 expression than adjacent tissue was 28 months (95% CI:9.2-46.8 months),and that with lower CTPS1 expression was 13 months (95% CI:8.2-17.8 month),(x2 =4.02,P<0.05).Conclusions CTPS1 in the pancreatic cancer cell lines are of low expression,and the level is positively related to patients' survival time.

8.
Chinese Journal of Gastrointestinal Surgery ; (12): 564-568, 2018.
Article in Chinese | WPRIM | ID: wpr-689649

ABSTRACT

<p><b>OBJECTIVE</b>To investigate clinicopathological features and prognostic factors of appendiceal neuroendocrine neoplasms(a-NEN).</p><p><b>METHODS</b>Clinical data of 20 patients diagnosed with a-NEN at Zhongshan Hospital of Fudan University between January 2000 and December 2016 were retrospectively analyzed. Pathological diagnosis was based on the WHO classification criteria of digestive system tumors (2010 edition). Based on the mitotic count and Ki-67 index, a-NENs were divided into grade 1 neuroendocrine tumor (NET G1), grade 2(G2) NET G2) and grade 3 (neuroendocrine carcinoma, NEC). Some special types of a-NEN (e.g. goblet cell carcinoid) and mixed adenoneuroendocrine neoplasms were classified as mixed adenoneuroendocrine carcinoma (MANEC). Follow-up was conducted by telephone or return visits. Univariate analysis was carried out using the Kaplan-Meier method, and the log-rank test was used to draw survival curves.</p><p><b>RESULTS</b>Of 20 patients, 14 were male and 6 were female with median age of 54 years. Seventeen cases presented acute right lower quadrant abdominal pain, 1 chronic right lower quadrant abdominal pain, 1 persistent abdominal discomfort with outburst whole abdominal pain and 1 was found during body check without symptoms. Twenty cases comprised 8 G1 patients, 4 G2 patients, 3 G3 patients, and 5 MANEC patients. When diagnosed, there was 1 patient with liver metastasis, 1 patient with abdominal and pelvic metastases, and 2 patients with postoperative pathological findings of lymph node metastasis. Six patients underwent appendectomy, 12 underwent right hemicolectomy, 1 underwent right hemicolectomy plus small intestine resection, and 1 underwent partial hepatectomy plus right hemicolectomy. The follow-up time was 7-187 months(average, 36 months). The total 1- and 3-year survival rates were 94.7% and 60.2%, respectively. Univariate analysis showed that age >50 years (χ=7.036, P=0.008), pathology grade as MANEC (χ=5.297, P=0.021), and metastasis (χ=6.558, P=0.010) indicated lower 5-year survival rate.</p><p><b>CONCLUSIONS</b>Most a-NEN patients have no typical symptoms, and the main complaint at consultation is acute right lower quadrant abdominal pain. Prognosis is poor for patients with age >50 years, MANEC pathology grade and metastasis.</p>


Subject(s)
Female , Humans , Male , Middle Aged , Appendiceal Neoplasms , Diagnosis , General Surgery , Carcinoma, Neuroendocrine , Diagnosis , Therapeutics , Gastrointestinal Neoplasms , Neuroendocrine Tumors , Diagnosis , General Surgery , Prognosis , Retrospective Studies
9.
Fudan University Journal of Medical Sciences ; (6): 267-273,299, 2017.
Article in Chinese | WPRIM | ID: wpr-618448

ABSTRACT

Objective To investigate the safety,effectiveness and prognosis of percutaneous microwave ablation (MWA) combined with synchronous transarterial chemoembolization (TACE) to treat of gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) with liver metastases (LMs).Methods This retrospective study included 19 cases of GEP-NENs with LMs patients who received percutaneous MWA combined with synchronous TACE treatment from 2013 to 2016.The mRECIST standard was selected to assess the curative effect.SPSS 21.0 software was applied in the statistical analysis of overall survival (OS),progression-free survival (PFS) and factors related to prognosis.Results All patients were capable of curative effect evaluation,including 1 case of complete remission (CR),3 cases of partial remission (PR),7 cases of progressive disease (PD) and 8 cases of stable disease (SD) respectively accounting for 5 %,16 %,37 %,42 %,which exhibited 21% of response rate (RR) and 63% disease control rate (DCR).In the present study,the median OS and median PFS was respectively 25 months and 34 months,and the one-year survival and three-year survival was respectively 95% and 84%.Serum CA199,the WHO classification of LMs and the tumor burden of LMs were the major risk factors of prognosis through single factor analysis of survival,which showed that G3 of the WHO classification of LMs predicted a poor OS (P<0.05) and tumor burden of LMs was negatively related to PFS (P<0.05).It was obviously observed that serum CgA was decreased by the therapy of percutaneous MWA with synchronous TACEfor GEP-NENs (P<0.05).Conclusions Percutaneous MWA combined with synchronous TACE is a safe and effective method to treat GEP-NENs with LMs.

10.
Chinese Journal of General Surgery ; (12): 733-737, 2017.
Article in Chinese | WPRIM | ID: wpr-657898

ABSTRACT

Objective To analyze the difference among the 3 guidehnes used to make surgical decision for branch duct intraductal papillary mucinous neoplasm (BD-IPMN),then the guidelines were combined with neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) respectively for further analysis.Methods Clinical data of 51 appropriate BD-IPMN patients who underwent surgical resection from January 2008 to December 2015 was retrospectively analyzed.Results The significant difference was exist in the consensus for followup criterion (P < 0.05).The preoperative NLR and PLR were helpful for the differential diagnosis between malignant and benign BD-IPMN,because the receiver operating characteristic curve (ROC) of NLR and PLR for prediction were 0.686 and 0.692,and the best boundary values were 2.64,92.56 respectively.The consensus combined with PLR could improve the specificity and positive predictive value (PPV),besides,the specificity and PPV could achieve 70.3%,54.2% respectively while the sensitivity (92.9%) still remained at an ideal level after international consensus guideline combined with PLR.Conclusions NLR ≥ 2.64 and PLR ≥ 92.56 were predictive markers for the presence of BD-IPMN associated invasive tumor.The addition of PLR as a criterion to the international consensus guideline improved the accuracy of international consensus guidelines in estimating invasive BD-IPMN.

11.
Chinese Journal of General Surgery ; (12): 733-737, 2017.
Article in Chinese | WPRIM | ID: wpr-660416

ABSTRACT

Objective To analyze the difference among the 3 guidehnes used to make surgical decision for branch duct intraductal papillary mucinous neoplasm (BD-IPMN),then the guidelines were combined with neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) respectively for further analysis.Methods Clinical data of 51 appropriate BD-IPMN patients who underwent surgical resection from January 2008 to December 2015 was retrospectively analyzed.Results The significant difference was exist in the consensus for followup criterion (P < 0.05).The preoperative NLR and PLR were helpful for the differential diagnosis between malignant and benign BD-IPMN,because the receiver operating characteristic curve (ROC) of NLR and PLR for prediction were 0.686 and 0.692,and the best boundary values were 2.64,92.56 respectively.The consensus combined with PLR could improve the specificity and positive predictive value (PPV),besides,the specificity and PPV could achieve 70.3%,54.2% respectively while the sensitivity (92.9%) still remained at an ideal level after international consensus guideline combined with PLR.Conclusions NLR ≥ 2.64 and PLR ≥ 92.56 were predictive markers for the presence of BD-IPMN associated invasive tumor.The addition of PLR as a criterion to the international consensus guideline improved the accuracy of international consensus guidelines in estimating invasive BD-IPMN.

12.
Chinese Journal of Digestive Surgery ; (12): 1033-1036, 2016.
Article in Chinese | WPRIM | ID: wpr-502617

ABSTRACT

Pancreatic neoplasm is one of the most commonly-appeared digestive tumors and has been well-recognized as the poor diseases which have the difficulties in diagnosis,treatment and prognosis estimation.Recently,the detection of circulating tumor cells (CTCs) has been a pretty highlight of the research on detecting tumor cells in peripheral blood,and furthermore,the clinical value in the diagnosis,treatment and prognosis prediction has already been verified through a large amount of samples analyses in various kinds of tumor diseases.This paper aims to review and conclude the techniques of CTCs enrichment,detection and clinical implications in pancreatic neoplasms.In addition,the existing papers have been summarized and prospect of application of CTCs is also presented.

13.
Chinese Medical Sciences Journal ; (4): 1-6, 2015.
Article in English | WPRIM | ID: wpr-242856

ABSTRACT

<p><b>OBJECTIVE</b>To understand the perception for the use of cataract surgical services in a population of acceptors and non-acceptors of cataract surgery in urban Beijing.</p><p><b>METHODS</b>From a community-based screening program a total of 158 patients with presenting visual acuity of less than 6/18 on either eye due to age-related cataract were informed about the possibility of surgical treatment. These patients were interviewed and re-examined 36 to 46 months after initial screening. The main reasons for not accepting surgery were obtained using a questionnaire. Vision function and vision-related quality of life scores were assessed in those who received and did not receive surgery.</p><p><b>RESULTS</b>At the follow-up examination 116 of the 158 patients were available and 36 (31.0%) had undergone cataract surgery. Cases who chose surgery had higher education level than those who did not seek surgery (OR=2.64, 95% CI: 1.08-6.63, P=0.02). There were no significant differences in vision function (P=0.11) or quality of life scores (P=0.16) between the surgery group and the non-surgery group. Main reasons for not having surgery included no perceived need (50.0%), feeling of being "too old" (19.2%), and worry about the quality of surgery (9.6%). Cost was cited by 1 (1.9%) subject as the main reason for not seeking surgery.</p><p><b>CONCLUSIONS</b>The data suggest that in China's capital urban center for patients with moderate visual impairment there is a relative low acceptance rate of cataract surgery, mainly due to people's perception of marginal benefits of surgery. Cost is not a determining factor as barrier to undergo surgery and patients with poorer education are less likely to undertake surgery.</p>


Subject(s)
Aged , Animals , Female , Humans , Male , Aging , Pathology , Cataract , Cataract Extraction , China , Follow-Up Studies , Urban Population , Vision Disorders
14.
Chinese Medical Sciences Journal ; (4): 1-6, 2014.
Article in English | WPRIM | ID: wpr-242909

ABSTRACT

<p><b>OBJECTIVE</b>To identify the possible association between C(-106)T polymorphism of the aldose reductase (ALR) gene and diabetic retinopathy (DR) in a cohort of Chinese patients with type 2 diabetes mellitus (T2DM).</p><p><b>METHODS</b>From November 2009 to September 2010, patients with T2DM were recruited and assigned to DR group or diabetic without retinopathy (DWR) group according to the duration of diabetes and the grading of 7-field fundus color photographs of both eyes. Genotypes of the C(-106)T polymorphism (rs759853) in ALR gene were analyzed using the MassARRAY genotyping system and an association study was performed.</p><p><b>RESULTS</b>A total of 268 T2DM patients (129 in the DR group and 139 in the DWR group) were included in this study. No statistically significant differences were observed between the 2 groups in the age of diabetes onset (P=0.10) and gender (P=0.78). The success rate of genotyping for the study subjects was 99.6% (267/268), with one case of failure in the DR group. The frequencies of the T allele in the C(-106)T polymorphism were 16.0% (41/256) in the DR group and 19.4% (54/278) in the DWR group (P=0.36). There was no significant difference in the C(-106)T genotypes between the 2 groups (P=0.40). Compared with the wild-type genotype, odds ratio (OR) for the risk of DR was 0.7 (95% CI, 0.38-1.3) for the heterozygous CT genotype and 0.76 (95% CI, 0.18-3.25) for the homozygous TT genotype. The risk of DR was positively associated with microalbuminuria (OR=4.61; 95% CI, 2.34-9.05) and insulin therapy (OR=3.43; 95% CI, 1.94-6.09).</p><p><b>CONCLUSIONS</b>Microalbuminuria and insulin therapy are associated with the risk of DR in Chinese patients with T2DM. C(-106)T polymorphism of the ALR gene may not be significantly associated with DR in Chinese patients with T2DM.</p>


Subject(s)
Female , Humans , Male , Albuminuria , Epidemiology , Urine , Aldehyde Reductase , Genetics , Asian People , China , Cohort Studies , Diabetes Mellitus, Type 2 , Drug Therapy , Ethnology , Genetics , Diabetic Retinopathy , Drug Therapy , Ethnology , Genetics , Gene Frequency , Hypoglycemic Agents , Therapeutic Uses , Insulin , Therapeutic Uses , Logistic Models , Multivariate Analysis , Polymorphism, Single Nucleotide , Risk
15.
Chinese Medical Journal ; (24): 2686-2690, 2009.
Article in English | WPRIM | ID: wpr-307837

ABSTRACT

<p><b>BACKGROUND</b>A Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD) was identified. The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage analysis.</p><p><b>METHODS</b>Forty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography, fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months. Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted. Linkage analysis was performed for candidate genes or loci using microsatellite markers.</p><p><b>RESULTS</b>Seven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD. The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes (STGD4, RCD1, peripherin/RDS, GUCA1A, RIMS1, UNC119, GUCY2D, and AIPL1) and two genetic loci (4p15.2 - 16.3, and 17p13) were excluded to be responsible for the disease by linkage analysis.</p><p><b>CONCLUSIONS</b>The clinical findings of this Chinese family with CACD shared similarities with previously reported families of other ethnicities. Linkage analysis excluded the known genes and genetic loci, indicating genetic heterogeneity of the disease.</p>


Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Middle Aged , Choroid Diseases , Genetics , Electroretinography , Fluorescein Angiography , Genetic Linkage
16.
Journal of Zhejiang University. Medical sciences ; (6): 629-633, 2008.
Article in Chinese | WPRIM | ID: wpr-310403

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the expression of Redox factor-1(Ref-1) in rats with Alzheimer's disease (AD).</p><p><b>METHODS</b>AD rat model was established by a single injection of beta-amyloid peptide (Abeta25-35) into the lateral cerebral ventricle of rats. Y-shape maze task was conducted to check the ethology. At 4th, 7th and 14th day after injection, Ref-1 expression in hippocampus CA1 area was detected by immunohistochemistry.</p><p><b>RESULT</b>The numbers of repeated learning and error and the total reaction time in AD group were significantly higher than those in control group at 7th and 14th day after injection of Abeta25-35 (P<0.05). At 4th day after injection of Abeta25-35, the Ref-1 expression was increased with time prolongation in AD group(P<0.01).</p><p><b>CONCLUSION</b>Injection of Abeta25-35 in lateral cerebral ventricle can decrease the learning and memory abilities of rats, and results also indicate that Ref-1 expression in hippocampus may be involved in the development of AD.</p>


Subject(s)
Animals , Male , Rats , Alzheimer Disease , Metabolism , Amyloid beta-Peptides , DNA-(Apurinic or Apyrimidinic Site) Lyase , Metabolism , Hippocampus , Metabolism , Maze Learning , Random Allocation , Rats, Sprague-Dawley
17.
Chinese Medical Journal ; (24): 820-824, 2007.
Article in English | WPRIM | ID: wpr-240324

ABSTRACT

<p><b>BACKGROUND</b>Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels. This study was conducted to identify disease locus for autosomal dominant congenital cataracts in a four generation Chinese family.</p><p><b>METHODS</b>Family history and clinical data were recorded. All the members were genotyped with microsatellite markers which are close to the known genetic loci for autosomal congenital cataracts. Two-point Lod scores were obtained using the MLINK of the LINKAGE program package (ver 5.1). Candidate genes were amplified by polymerase chain reaction (PCR) and direct cycle sequencing.</p><p><b>RESULTS</b>The maximum Lod score of Zmax-2.11 was obtained with three microsatellite markers D22S258, D22S315, and D22S1163 at recombination fraction theta=0. Haplotype analysis showed that the disease gene was localized to a 18.5 Mbp region on chromosome 22 flanked by markers D22S1174 and D22S270, spanning the beta-crystallin gene cluster. A c.752T-->C mutation in exon 6 of CRYBB1 gene, which resulted in a heterozygous S228P mutation in predicted protein, was found to cosegregate with cataract in the family.</p><p><b>CONCLUSIONS</b>This study identified a novel mutation in CRYBB1 gene in a Chinese family with autosomal dominant congenital cataract. These results provide strong evidence that CRYBB1 is a pathogenic gene for congenital cataract.</p>


Subject(s)
Female , Humans , Male , Amino Acid Sequence , Cataract , Genetics , Genes, Dominant , Genetic Linkage , Molecular Sequence Data , Mutation, Missense , beta-Crystallin B Chain , Genetics
18.
Ophthalmology in China ; (6)1993.
Article in Chinese | WPRIM | ID: wpr-680448

ABSTRACT

Objective To determine the incidence and risk factors of iatrogenic retinal breaks in eyes undergoing pars plana vit- rectomy for idiopathic macular pucker.Design Retrospective case series.Participant 88 consecutive vitrectomies performed on eyes with idiopathic macular pucker.Method Consecutive vitrectomies performed on eyes with idiopathic macular pucker at Beijing Tongren Eye Center between 2002 and 2006 were retrospectively reviewed.Cases with iatrogenic retinal breaks were recorded and analyzed. Main Outcome Measure Number and location of retinal breaks,and anatomic outcome after surgical managements.Result A total of 88 consecutive vitrectomies were included in the study.Of the 88 eyes,8 eyes had 14 iatrogenic retinal breaks detected,with an aver- age incidence of 9.1%.Peripheral retinal breaks(8.0%)were more common than posterior retinal breaks(1.1%).All peripheral retinal breaks occurred around the selerotomy sites(100%)and the quadrant of predominant hand was involved most commonly(62%).Most of the breaks(88%)were detected during the surgery.All eyes with iatrogenic retinal breaks obtained anatomic retinal reattachment (100%).Conclusion Despite improvements in instrumentation and surgical techniques,iatrogenic retinal break continues to be an im- portant complication of pars plana vitrectomy in eyes with idiopathic macular pucker.This complication tends to occur more commonly at peripheral retina and is mainly selerotomy-related.

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