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1.
Pak J Med Sci ; 35(2): 561-568, 2019.
Article in English | MEDLINE | ID: mdl-31086551

ABSTRACT

OBJECTIVE: Endoscopic therapy can reduce the risks of rebleeding, continued bleeding, need for surgery, and mortality. The objective of this systematic review was to compare the different modalities of endoscopic therapy for GI bleeding. METHODS: Studies were identified by searching electronic databases MEDLINE. We selected all available clinical studies published after 2000 that assessed efficacy and/or safety of different endoscopic hemostatic techniques in treating GI bleeding. The outcomes evaluated included initial hemostasis, rebleeding rate, and 30-day all-cause mortality. Network meta-analyses were performed to summarize the treatment effects. RESULTS: Total 20 studies involving 1845 patients were evaluated. Ten different treatment categories including mechanic, ablative, injection, and combined therapy were compared in our analysis in terms of their efficacy in stopping bleeding and complications. Band ligation [rate: 0.757; 95% Credible Interval (0.565, 0.887)] and injection therapy [rate: 0.891; 95% CI (0.791, 0.944)] had inferior efficacy in attaining initial hemostasis compared to others. Combined therapy of band ligation and HPC and hemoclip may represent the best options for preventing rebleeding and mortality respectively. No significant difference was found among other treatments in terms of complications. CONCLUSIONS: We recommend the application of hemoclips in treating GI bleeding due to its high hemostasis efficacy and low risk of 30-day mortality.

2.
Oncotarget ; 8(69): 113957-113965, 2017 Dec 26.
Article in English | MEDLINE | ID: mdl-29371960

ABSTRACT

In order to investigate the function of toll-like receptor 4/nuclear factor-kappa B (TLR4/NF-κB) signal pathways in the pathogenesis of diarrhea-predominant irritable bowel syndrome (IBS-D), IBS-D animal models were established in wistar rats challenged with acute and chronic stresses (29 days). Wistar rats without stress-challenged were used as controls. IBS-D models were randomly divided into two groups: one was treated with normal saline, another group was treated with TLR4/NF-κB inhibitor, pyrrolidine dithiocarbamate (PDTC) (50mg/kg/week) for continuous four times. Our results demonstrate that continuous stresses can induce the characteristic symptoms of IBS-D, including high wet stool rate and intestinal flora imbalance. Further examinations of colon tissues show that the protein expression levels of TLR4 and NF-κB in IBS-D groups are higher than that in control group. The secretory levels of interleukin (IL-8), tumor necrosis factor α (TNFα), and myeloid differentiation factor 88 (MyD88) are significantly increased in IBS-D group. Administration with PDTC effectively downregulates levels of these inflammatory factors. In contrast, interleukin-10 (IL-10) is in an opposite alteration with lower levels in IBS-D groups and the PDTC treatment increases it to the levels as in control group. Moreover, inhibition of the TLR4/NF-κB by PDTC improves the microstructure of intestinal mucosa mainly by increasing the height of villi. Our results suggest that TLR4/NF-κB signal pathway plays an important role in the modulation of inflammatory responses in IBS-D, which might be a therapeutic target for the IBS-D. All of these findings also provide the evidence concerning an inherent linkage between the axis of stress/NF-κB/inflammation and IBS-D.

3.
J Gastroenterol Hepatol ; 31(9): 1584-93, 2016 Sep.
Article in English | MEDLINE | ID: mdl-26875585

ABSTRACT

BACKGROUND AND AIM: Irritable bowel syndrome (IBS) is a common functional bowel disease, and the overlap with upper functional gastrointestinal disorders (FGIDs) is popular. However, the coexistent upper GI symptom profiles, upper FGID spectra, and related risk factors among IBS subjects remain unclear in mainland of China. METHODS: Consecutive patients from the outpatient gastroenterology clinics of three tertiary hospitals in China were enrolled in this multicenter study. All upper GI symptoms occurring at least once a week in the last 3 months were recorded. Diagnostic criteria of functional esophageal, gastroduodenal disorders and IBS were based on Rome III criteria. Risk factors were assessed using a multivariate logistic regression model. RESULTS: Of the 8906 consecutive patients, 751 patients met Rome III criteria for IBS and 735 IBS patients participated in the interview. Postprandial fullness (30.6%), belching (27.1%), and regurgitation (21.8%) were the three most prevalent upper GI symptoms in IBS. Functional dyspepsia (FD, 36.7%), belching disorders (27.1%), and functional heartburn (16.3%) were the three most frequent upper FGID in IBS patients. Female sex, divorced or widowed versus married status, defecation straining, reduced bowel movement, mixed IBS, abdominal distention, mild abdominal pain, moderate discomfort were positively associated with IBS-FD overlap. Female sex, drinking, moderate discomfort, and mild to moderate distension were independent risk factors for IBS-belching disorder overlap. CONCLUSIONS: The study provides detailed overlap spectra of upper FGID with IBS. Mixed IBS is an important risk factor for IBS-FD overlap, which deserved more concern.


Subject(s)
Gastrointestinal Diseases/diagnosis , Adolescent , Adult , Aged , Aged, 80 and over , China/epidemiology , Dyspepsia/epidemiology , Dyspepsia/etiology , Eructation/epidemiology , Eructation/etiology , Female , Gastrointestinal Diseases/complications , Gastrointestinal Diseases/epidemiology , Heartburn/epidemiology , Heartburn/etiology , Humans , Irritable Bowel Syndrome/complications , Irritable Bowel Syndrome/diagnosis , Irritable Bowel Syndrome/epidemiology , Male , Middle Aged , Outpatient Clinics, Hospital , Prevalence , Risk Factors , Young Adult
4.
Chin J Traumatol ; 18(1): 41-3, 2015.
Article in English | MEDLINE | ID: mdl-26169094

ABSTRACT

PURPOSE: To compare the therapeutic effects of different doses of intravenous esomeprazole on treating trauma patients with stress ulcer bleeding. METHODS: A total of 102 trauma patients with stress ulcer bleeding were randomly divided into 2 groups: 52 patients were assigned to the high-dose group who received 80 mg intravenous esomeprazole, and then 8 mg/h continuous infusion for 3 days; 50 patients were assigned to the conventional dose group who received 40 mg intravenous esomeprazole sodium once every 12 h for 72 h. RESULTS: Compared with the conventional dose group, the total efficiency of the high-dose group and conventional dose group was 98.08% and 86.00%, respectively (p < 0.05), the hemostatic time was 22.10 h ± 5.18 h and 28.27 h ± 5.96 h, respectively (p < 0.05). CONCLUSION: Both doses of intravenous esomeprazole have good hemostatic effects on stress ulcer bleeding in trauma patients. The high-dose esomeprazole is better for hemostasis.


Subject(s)
Anti-Ulcer Agents/therapeutic use , Esomeprazole/therapeutic use , Peptic Ulcer Hemorrhage/drug therapy , Stomach Ulcer/complications , Stress, Psychological/complications , Wounds and Injuries/complications , Adolescent , Adult , Aged , Dose-Response Relationship, Drug , Female , Humans , Male , Middle Aged
5.
J Huazhong Univ Sci Technolog Med Sci ; 34(6): 808-814, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25480574

ABSTRACT

To investigate the known and new factors associated with uninvestigated dyspepsia (UD), we surveyed 8600 Chinese navy personnel with offshore training shorter than 1 month or longer than 9 months per year. All respondents were required to complete a questionnaire covering demographics, the Chinese version of the Rome III survey, eating habits, life styles, and medical and family history. The response rate was 94.3% (8106/8600) with 4899 respondents qualified for analysis, including 1046 with offshore training and 3853 with onshore training. The prevalence of UD was higher in the offshore group than in the onshore group (12.6% vs. 6.9%, P<0.001), with a general prevalence of 8.1%. The subjects with offshore training were more likely to suffer from UD and postprandial distress syndrome (OR=1.955, 95% CI 1.568-2.439, P<0.001 and OR=1.789, 95% CI 1.403-2.303, P<0.001, respectively). The multivariate logistic regression analysis showed UD was associated with offshore training (OR=1.580, 95% CI 1.179-2.118, P=0.002), family history (OR=1.765, 95% CI 1.186-2.626, P=0.005) and smoking (OR=1.270, 95% CI 1.084-1.488, P=0.003), but not with alcohol drinking. The association between dysentery history and UD was undetermined/borderline (P=0.056-0.069). In conclusion, we identified offshore training as a new factor associated with UD, and also confirmed 2 known associated factors, family history and smoking.


Subject(s)
Dyspepsia , Military Medicine , Military Personnel , Naval Medicine , Adult , China/epidemiology , Dyspepsia/epidemiology , Dyspepsia/etiology , Female , Humans , Male
6.
Asian Pac J Cancer Prev ; 14(11): 6507-12, 2014 Jan.
Article in English | MEDLINE | ID: mdl-24377558

ABSTRACT

The purpose of this study was to evaluate the associations of CYP1A1 genetic polymorphisms with the risk of developing esophageal cancer (EC). A case-control study was carried out in a Chinese population in which 157 hospital based EC cases and 157 population based healthy controls with 1:1 match by age and sex were included. PCR based restriction fragment length polymorphisms (PCR-RFLP) were used to detect genotypes in case and control groups. For the CYP1A1 Ile/Val polymorphism, comparing with wild genotype Ile/Ile, both the heterozygote genotype Ile/Val and the combined variant genotype Ile/Val+Val/Val increased the risk of esophageal cancer (OR: 2.05, 95%CI: 1.19-3.54, OR: 1.86, 95%CI: 1.11-3.12). No significant association was found between the CYP1A1 MspI polymorphism and EC. According to analysis of combined genotypes, the TC/AG combined genotype which contained both variant alleles of these two polymorphisms increased the risk of developing EC (OR: 2.12, 95%CI: 1.16-3.85). Our results suggested that genetic polymorphisms of CYP1A1 may increase the susceptibility to EC.


Subject(s)
Cytochrome P-450 CYP1A1/genetics , Esophageal Neoplasms/genetics , Genetic Predisposition to Disease , Polymorphism, Genetic/genetics , Case-Control Studies , China , Female , Follow-Up Studies , Genotype , Humans , Male , Middle Aged , Neoplasm Staging , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Prognosis , Risk Factors
7.
World J Gastroenterol ; 20(48): 18338-45, 2014 Dec 28.
Article in English | MEDLINE | ID: mdl-25561800

ABSTRACT

AIM: To clarify the molecular mechanism involved in pathogenesis of colorectal cancer as well as clinical significance of genetic analysis of histological samples. METHODS: A total of 480 blood and tissue specimens were collected in our hospital from January 2011 to October 2012. In the observation group, there were 120 blood specimens and 120 intestinal tract tissue specimens collected from patients with neoplastic intestinal polyps. In the control group I there were 80 blood specimens and 80 intestinal tract tissue specimens collected from patients with colorectal cancer. In the control group II there were 40 blood specimens and 40 intestinal tract tissue specimens collected from healthy individuals. The gene segments were amplified using PCR and DNA gel electrophoresis along with DNA sequence analysis were employed for the detection of the following single nucleotide polymorphisms (SNPs): K-RAS codons 12 and 13; hMLH1 (human mutS homolog 1) gene missense mutation at Va1384Asp; hMSH2 (human mutS homolog 2) gene missense mutation at 2783C/A. RESULTS: The mutation rate of the SNP at Va1384Asp locus of the hMLH1 gene from blood and tissue specimens in the observation group showed no statistical difference from those in the control group I. The mutation rates of SNPs in codons 12 and 13 of K-RAS and at 2783C/A locus of the hMSH2 gene were significantly lower in the observation group than in the control group I (χ(2) = 15.476, 29.670, 10.811, 16.618, 33.538, 7.898, P < 0.05). The mutation rate of SNP at Va1384Asp locus of the hMLH1 gene was significantly higher in the observation group when compared to the control group II (χ(2) = 10.486, 4.876, P < 0.05). The mutation rates of SNPs in codons 12 and 13 of K-RAS and at 2783C/A locus of the hMSH2 gene did not show any statistical difference from those in the control group II. CONCLUSION: There may be important clinical significance and relevance between neoplastic intestinal polyps and colorectal cancer in terms of the mechanisms involved in the pathogenesis.


Subject(s)
Adaptor Proteins, Signal Transducing/genetics , Colonic Polyps/genetics , Colorectal Neoplasms/genetics , MutS Homolog 2 Protein/genetics , Mutation, Missense , Nuclear Proteins/genetics , Polymorphism, Single Nucleotide , Proto-Oncogene Proteins/genetics , ras Proteins/genetics , Adult , Aged , Case-Control Studies , Codon , Colonic Polyps/pathology , Colorectal Neoplasms/pathology , DNA Mutational Analysis , Female , Genetic Predisposition to Disease , Humans , Male , Middle Aged , MutL Protein Homolog 1 , Phenotype , Proto-Oncogene Proteins p21(ras) , Young Adult
8.
Asian Pac J Cancer Prev ; 14(5): 3163-8, 2013.
Article in English | MEDLINE | ID: mdl-23803097

ABSTRACT

Methylenetetrahydrofolate reductase (MTHFR) plays a central role in folate metabolism. This study with 381 esophageal cancer patients and 432 healthy controls was conducted to examine the association of MTHFR C677T and A1298C polymorphisms with susceptibility to esophageal cancer (EC) in a Chinese population. Compared with the CC genotype of MTHFR C677T, subjects carrying homozygote TT and variant genotypes (CT+TT) demonstrated reduced risk of EC with adjusted ORs (95% CI) of 0.44 (0.28-0.71) and 0.57 (0.37-0.88), respectively. However, no association was found between the MTHFR A1298C polymorphism and the risk of EC. Comparing to haplotype CA, haplotypes TA and TC could reduce the susceptibility to EC with adjusted ORs (95% CI) of 0.61(0.47-0.79) and 0.06 (0.01-0.43), respectively. In conclusion, the present study suggested that the MTHFR C677T polymorphism can markedly influence the risk of EC in Chinese.


Subject(s)
Asian People/genetics , Biomarkers, Tumor/genetics , Esophageal Neoplasms/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Genetic/genetics , Adult , Case-Control Studies , Female , Follow-Up Studies , Genotype , Humans , Male , Middle Aged , Neoplasm Staging , Prognosis , Risk Factors
9.
Article in Chinese | MEDLINE | ID: mdl-23803526

ABSTRACT

OBJECTIVE: To analyze functional dyspepsia prevalence and associated factors of naval forces. METHOD: By stratified random cluster sampling method, conducted a questionnaire survey and diagnosis of functional dyspepsia to 11 520 military sea forces, and analyzed risk in clinical factors. Large sample size of 3084 cases in the diagnosis of functional dyspepsia, analyzed correlation of the selected 100 patients by single sample random sampling method. RESULT: Naval forces, functional dyspepsia prevalence was 29.27% (3084/10537), and logistic regression analysis showed that job factors of military service, military rank, the nature of the work, the training intensity, training environmental P = 0.028, 0.023, 0.000, 0.000, 0.014, OR = 10.308, 6.288, 22.504, 26.720, 9.825; life factors of daily water intake, eating fruits and frequency of sleep time, spicy eating habits, drinking history factors P = 0.000, 0.012, 0.025, 0.017, 0.027, OR = 28.467, 20.335, 11.358, 10.249, 9.578; psychological factors, depression, anxiety factor P = 0.024, 0.019, OR = 16.878, 18.025;generally age, gender, ethnicity, BMI index, gastrointestinal history, history of drug, educational background, geographic factors P = 0.042, 0.033, 0.417, 0.000, 0.000, 0.012, 0.392, 0.440, OR = 3.406, 7.511, 2.643, 42.073, 88.457, 21.680, 1.752, 5.561.When value of P < 0.05, clinical risk factors were screened. Clinical symptom scores and work, life factor score and SAS, SDS score of randomly selected patient samples was positively correlated, r = 0.816, 0.763, 0.795, 0.923, P = 0.000, indicating statistically significant. CONCLUSION: Naval forces functional dyspepsia prevalence was higher than the general population, which risk factors included work, life, psychological, physical fitness factors, closely related with military service and military personnel, military rank, the nature of the work, the training intensity and environment, eating habits, daily sleep time, drinking history, depression, anxiety level, age, gender, BMI index, history of gastrointestinal disease, use of drugs, high priority should be given to the risk factors listed above, the development of rational targeted programs to strengthen the cause of prevention measures.


Subject(s)
Dyspepsia/epidemiology , Military Personnel/statistics & numerical data , Adolescent , Adult , China/epidemiology , Female , Humans , Male , Middle Aged , Prevalence , Risk Factors , Young Adult
10.
Zhonghua Wei Zhong Bing Ji Jiu Yi Xue ; 25(4): 224-8, 2013 Apr.
Article in Chinese | MEDLINE | ID: mdl-23660099

ABSTRACT

OBJECTIVE: To investigate the curative effect of early enteral nutrition (EN) supplemented with probiotics (bifidobacterium) in patients with severe acute pancreatitis (ASP). METHODS: Seventy SAP cases admitted from January 2005 to October 2012 were randomly assigned into parenteral nutrition (PN) group (n=22), EN group (n=25) and bifidobacterium added EN (P+EN) group (n=23). In P+EN group, patients were given their nutrition the same as that of EN, and also probiotics (bifidobacterium, 4 capsules every 12 hours, given through nasal gastric tube, each capsule weighing 210 mg). The routine treatment including anti-infection and anti-acid agents, and that of inhibition of pancreatic secretion were given, except for the different nutritional interventions in all groups. The blood samples were collected for e same measurements of interleukin-8 (IL-8) and tumor necrosis factor (TNF-α) by enzyme linked immunosorbent assay (ELISA), and for the C-reactive protein (CRP), lactic acid dehydrogenase (LDH), white blood cell (WBC) count, amylase and lipase by biochemistry assay 1 day before intervention of nutrition, and 7 days and 14 days after intervention. Changes in organ function and outcome were also recorded at the same time points. RESULTS: The plasma levels of IL-8, TNF-α, CRP, LDH, WBC count, amylase and lipase were significantly reduced after nutritional intervention compared with their levels on day 1 before intervention in all three groups. The plasma IL-8, TNF-α, CRP, lipase, LDH at 14 days after intervention of nutrition in P+EN group were significantly lower than those in PN group and EN group (IL-8: 21.00 ± 7.07 µg/L vs. 48.00 ± 10.32 µg/L, 32.00 ± 9.30 µg/L; TNF-α: 44.3 ± 10.9 ng/L vs. 132.1 ± 34.1 ng/L, 67.8 ± 22.3 ng/L; CRP: 35.0 ± 12.4 mg/L vs. 103.2 ± 49.2 mg/L, 63.0 ± 29.2 mg/L; lipase: 269 ± 79 U/L vs. 670 ± 145 U/L, 310 ± 78 U/L; LDH: 21.8 ± 10.3 U/L vs. 78.1 ± 37.4 U/L, 37.9 ± 25.1 U/L, P<0.05 or P<0.01). The WBC count in P+EN group was significantly lower than that in PN group (5.9 ± 3.0 × 109/L, 6.3 ± 3.2 × 109/L vs. 9.6 ± 3.0 ×109/L, both P<0.05), but there was no significant difference in amylase between P+EN group and PN group (211 ± 49 U/L, 236 ± 52 U/L vs. 298 ± 71 U/L, P>0.05). The gastrointestinal dysfunction score in P+EN, EN, PN groups 14 days after nutritional intervention was 0.28 ± 0.05, 0.43 ± 0.09, 0.71 ± 0.11, respectively, with statistically significant differences (all P<0.01). Compared with PN and EN groups, the incidence of upper gastrointestinal bleeding (1 vs. 9, 2), infection and abscess (2 vs. 12, 5) was lower (all P<0.01), and hospital day was significantly shortened in P+EN group (10.4 ± 3.9 days vs. 25.8 ± 6.4 days, 13.4 ± 5.2 days, both P<0.01). There was no significant statistical difference in mortality rate among three groups. CONCLUSION: Our results indicated that early EN with addition of probiotics (bifidobacterium) resulted in significant lowering of the level of pro-inflammatory cytokines, earlier restoration of gastrointestinal function, decrease of complications such as infection, and shortening of hospital day in patients with SAP.


Subject(s)
Enteral Nutrition , Pancreatitis, Acute Necrotizing/therapy , Probiotics/therapeutic use , Adult , Aged , Bifidobacterium , Cytokines/blood , Female , Humans , Male , Middle Aged , Pancreatitis, Acute Necrotizing/diagnosis , Prognosis , Treatment Outcome , Young Adult
11.
J Gastroenterol Hepatol ; 27(4): 760-5, 2012 Apr.
Article in English | MEDLINE | ID: mdl-21929652

ABSTRACT

BACKGROUND AND AIM: The aim of this study was to explore the distribution and clinical characteristics of four subtypes of irritable bowel syndrome (IBS) based on Rome III criteria in Chinese. METHODS: A total of 754 consecutive IBS outpatients from three tertiary hospitals in China were included. Diagnostic criteria were based on Rome II or Rome III. RESULTS: Among 754 outpatients, 510 (67.6%) patients met the Rome II criteria, 735 (97.5%) patients met the Rome III criteria and 492 (65.3%) patients met both sets of criteria. Among 735 patients who met the Rome III criteria, 66.3% had IBS with diarrhea (IBS-D), 14.7% had IBS with constipation (IBS-C), 4.2% had mixed IBS (IBS-M) and 14.8% had unsubtyped IBS (IBS-U). Most of the IBS-D, IBS-C and IBS-M patients based on the Rome III criteria matched the diarrhea-predominant IBS, constipation-predominant IBS and alternating IBS based on the Rome II criteria, respectively. Among IBS-U patients, 57.0%, 33.3% and 9.7% had constipation-predominant IBS, diarrhea-predominant IBS and alternating IBS, respectively. For IBS-M, the frequencies of bowel movements were stable in 48.4% patients and variable in 51.6% patients. Defecation urgency and straining were most frequent in IBS-M and least frequent in IBS-U patients than other subtypes. About 77.2% of IBS-U patients had abnormal stool frequency (< 3 times/week or > 3 times/day). CONCLUSION: The Rome III criteria are more sensitive and practical in diagnosing IBS. IBS-D is the most frequent subtype, which is followed by IBS-U, IBS-C and IBS-M. IBS-U is a new subtype, which warrants further studies.


Subject(s)
Constipation/etiology , Diarrhea/etiology , Irritable Bowel Syndrome/classification , Irritable Bowel Syndrome/diagnosis , Surveys and Questionnaires , Abdominal Pain/etiology , Analysis of Variance , Chi-Square Distribution , China , Cohort Studies , Defecation , Fatigue/etiology , Female , Humans , Irritable Bowel Syndrome/complications , Male , Sensitivity and Specificity , Statistics, Nonparametric
12.
Zhonghua Yan Ke Za Zhi ; 44(2): 138-42, 2008 Feb.
Article in Chinese | MEDLINE | ID: mdl-18683699

ABSTRACT

OBJECTIVE: To study the disease-causing gene for a Chinese family with X-linked congenital idiopathic nystagmus. METHODS: It was a retrospective study. The phenotype of a Chinese family with congenital nystagmus was identified by investigating the history and the clinical features of each family member. The mode of inheritance in this family was ascertained by the pedigree analysis. Linkage analysis was performed to identify the possible locus harboring the disease-causing gene. Direct DNA sequence analysis was performed to find the mutation responsible for this disease. RESULTS: The positive LOD score was obtained for 10 microsatellite makers on chromosome Xq25-Xq27, and the maximum LOD score with DXS1211 was 3.91. A 2-bp deletion in exon 8 of FRMD7 was detected after direct DNA sequence analysis, which was cosegregated with all patients in this family. CONCLUSION: Congenital nystagmus is a clinically and genetically heterogeneous ocular movement disease. Mutation of the FRMD7 gene is the cause of congenital nystagmus in this family.


Subject(s)
Genes, X-Linked , Mutation , Nystagmus, Congenital/genetics , Asian People/genetics , Cytoskeletal Proteins/genetics , Exons , Female , Genetic Linkage , Humans , Male , Membrane Proteins/genetics , Microsatellite Repeats , Pedigree , Phenotype , Retrospective Studies , Sequence Analysis, DNA
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 25(1): 11-4, 2008 Feb.
Article in Chinese | MEDLINE | ID: mdl-18247295

ABSTRACT

OBJECTIVE: To study the mutation of FRMD7 gene in a Chinese family with congenital idiopathic nystagmus. METHODS: Forty-six individuals in the Chinese family with congenital idiopathic nystagmus, including 16 patients, 19 normal siblings and 11 spouses, were investigated under informed consent. Genomic DNA of all 46 members was isolated by standard protocol. The X-linked inherited pattern was ascertained by investigating the history of the family members and the clinical feature of each individual. The genome scan on X chromosome was performed after PCR amplification for microsatellite markers. LOD scores were calculated with Linkage 5.1. Direct DNA sequence analysis was carried out to find the gene mutation responsible for the disease. RESULTS: A maximum LOD score of 8.55 (theta=0) was obtained with polymorphic marker DXS1047. Haplotype construction of the family defined the disease interval between DXS8059 and DXS8033. Direct DNA sequence analysis revealed a heterozygous mutation of G990T in exon 9 of the FRMD7 gene in all patients, which was not present in unaffected family members. CONCLUSION: Congenital nystagmus is a clinically and genetically heterogeneous ocular movement disease. The mutation of G990T of the FRMD7 gene is the underlying molecular pathogenesis for this family with congenital nystagmus.


Subject(s)
Asian People/genetics , Cytoskeletal Proteins/genetics , Membrane Proteins/genetics , Nystagmus, Congenital/genetics , Base Sequence , Exons/genetics , Family , Female , Genome, Human/genetics , Genomics , Humans , Male , Microsatellite Repeats/genetics , Mutation , Pedigree , Sequence Analysis, DNA
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