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1.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 869-874, 2023.
Article in Chinese | WPRIM | ID: wpr-998256

ABSTRACT

ObjectiveTo explore the effect of intervention based on theory of planned behavior on muscle attenuation and balance of the elderly with sarcopenia. MethodsFrom September, 2022 to February, 2023, 124 elderly people with sarcopenia were conveniently sampled from Lishuiwan Community and Shuxiangyuan Community in Shijiazhuang City, Hebei Province. According to the coin toss, 62 elderly people from Shuxiangyuan Community were designated as control group, and 62 elderly people from Lishuiwan Community were as intervention group. The intervention group implemented the intervention based on the theory of planned behavior, including behavior attitude, behavior, subjective norms, perceived behavior control and behavior awareness; the control group maintained their original lifestyle, for twelve weeks. Before and after intervention, the grip strength, time of Five-Times-Sit-to-Stand Test, relative appendicular skeletal muscle index (RASM), 6-minute walking speed and the score of Berg Balance Scale (BBS) were compared. ResultsAfter intervention, the grip strength, RASM, 6-minute walking speed, and the score of BBS significantly increased, and the time of Five-Times-Sit-to-Stand Test shortened in the intervention group (|Z| > 6.257, |t| > 28.643, P < 0.001), and they were better in the intervention group than in the control group (|Z| > 2.288, |t| > 3.177, P < 0.05). ConclusionThe intervention based on theory of planned behavior can effectively relieve the muscle attenuation of the elderly with sarcopenia, and improve their balance ability.

2.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 595-600, 2023.
Article in Chinese | WPRIM | ID: wpr-975146

ABSTRACT

ObjectiveTo explore the effect of nutrition combined with exercise intervention on stroke patients with sarcopenia. MethodsFrom January to June, 2022, 60 stroke patients with sarcopenia were randomly divided into control group (n = 15), nutrition group (n = 15), exercise group (n = 15) and combined group (n = 15). All the groups received routine rehabilitation training, while the nutrition group received nutrition intervention, the exercise group received exercise intervention, and the combined group received both the nutrition and exercise intervention, for four weeks. Before and after intervention, the muscle index was measured with bioelectrical impedance analysis, gripping strength of the healthy and the affected side was measured with gripping strength meter, and the patients were assessed with modified Barthel Index (MBI) and Berg Balance Scale (BBS). ResultsFour cases in the control group, two in the nutrition group, one in the exercise group, and three in the combined group dropped down. The muscle index, gripping strength, and the scores of MBI and BBS improved in all the groups after intervention (|t| > 3.004, P < 0.05), while all improved more in the combined group than in the other three groups (P < 0.05), and the grip strength of the healthy side was more in the exercise group than in the nutrition group (P < 0.05). ConclusionNutrition or exercise intervention alone can improve the muscle quality, grip strength, activities of daily living and balance of stroke patients with sarcopenia, while the combination is more effective.

3.
Journal of Southern Medical University ; (12): 793-799, 2023.
Article in Chinese | WPRIM | ID: wpr-986990

ABSTRACT

OBJECTIVE@#To explore the biomarkers of tinnitus in vestibular schwannoma patients using electroencephalographic (EEG) microstate technology.@*METHODS@#The EEG and clinical data of 41 patients with vestibular schwannoma were collected. All the patients were evaluated by SAS, SDS, THI and VAS scales. The EEG acquisition time was 10-15 min, and the EEG data were preprocessed and analyzed using MATLAB and EEGLAB software package.@*RESULTS@#Of the 41 patients with vestibular schwannoma, 29 patients had tinnitus and 12 did not have tinnitus, and their clinical parameters were comparable. The average global explanation variances of the non-tinnitus and tinnitus groups were 78.8% and 80.1%, respectively. The results of EEG microstate analysis showed that compared with those without tinnitus, the patients with tinnitus had an increased frequency (P=0.033) and contribution (P=0.028) of microstate C. Correlation analysis showed that THI scale scores of the patients were negatively correlated with the duration of microstate A (R=-0.435, P=0.018) and positively with the frequencies of microstate B (R=0.456, P=0.013) and microstate C (R=0.412, P=0.026). Syntax analysis showed that the probability of transition from microstate C to microstate B increased significantly in vestibular schwannoma patients with tinnitus (P=0.031).@*CONCLUSION@#EEG microstate features differ significantly between vestibular schwannoma patients with and without tinnitus. This abnormality in patients with tinnitus may reflect the potential abnormality in the allocation of neural resources and the transition of brain functional activity.


Subject(s)
Humans , Neuroma, Acoustic/complications , Electroencephalography , Patients , Probability
4.
Chinese Journal of Ocular Fundus Diseases ; (6): 668-674, 2022.
Article in Chinese | WPRIM | ID: wpr-958499

ABSTRACT

Objective:To identify 3 the disease-causing genes and mutations of Leber congenital amaurosis (LCA), and to study the correlation of phenotype and genotype.Methods:A retrospective study. Four LCA patients and seven family members who were diagnosed by eye examination in Ning Xia Eye Hospital of People's Hospital of Ningxia Hui Autonomous Region from January to December 2021 were included in the study. Four patients were from 3 unrelated families. Detailed collection of medical history and family history were received. Related ophthalmologic examination were collected and genomic DNA was extracted from peripheral blood. Whole-exome sequencing method was used for genetic diagnosis. The identified variant was confirmed with Sanger sequencing. Potential pathogenic mutation was analyzed using software and conserved domain analysis and performed co-separated analysis between the family member and the proband.Results:Of the 4 patients, 1 patient was males and 3 patients were females; the age was from 4 to 18 years. Nystagmus were seen in 3 cases, finger pressing eyes and night blindness was seen in 1 cases; electroretinogram showed 4 cases of extinction or near extinction. The foveal reflection was visible in all eyes, and there was no obvious abnormality in the peripheral retina. One eye had strong reflection signal with raised ellipsoid in macular area; two eyes had weak reflection signal faintly visible between retinal layers; 1 eye had increased blood vessel branches, peripheral retinal non-perfusion area with capillary leakage; annular strong autofluorescence in macular area 4 eyes. No obvious abnormality was found in the phenotypes of family members. Genetic testing showed that the proband of pedigree 1 (Ⅱ-1) was found a homozygous missense mutation in c.640A>T (p.C214S) (M1) of PRPH2 gene. The proband of pedigree 2 (Ⅱ-2) was found compound heterozygous mutation in c.1256G>A(p.R419Q) (M2) and c.1A>C (p.M1L) (M3) of TULP1 gene. The proband 3 (Ⅱ-1) and her sister (Ⅱ-2) were both found compound heterozygous mutation in c.1943T>C (p.L648P) (M4) and c.380C>T (p.P127L) (M5) of GUCY2D gene. The parents and sister (Ⅱ-1) of the proband in family 2 and the parents of the proband in family 3 were all carriers of the corresponding heterozygous variant. M1, M3, M4, M5 were novel mutations and unreported. The genotype and disease phenotype were co-segregated within the family. According to the analysis of pedigree and genetic testing results, all 3 families were autosomal recessive inheritance. The amino acid conservation analysis found that M1, M2, M3, M4, and M5 were highly conserved among species. The results of bioinformatics analysis were all pathogenic variants. Conclusions:PRPH2 gene M1, TULP1 gene M3, and GUCY2D gene M4, M5 were novel mutations and not been reported in the literature and database. This research expanded the gene mutation spectrum of LCA. The patients with LCA have available characterristics, including onset age, varying ocular fundus and severe visual impairment.

5.
Chinese Journal of Microbiology and Immunology ; (12): 94-100, 2022.
Article in Chinese | WPRIM | ID: wpr-934019

ABSTRACT

Objective:To understand the molecular transmission characteristics of human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome(AIDS) patients in the mountainous area of southwest Zhejiang Province(Lishui city).Methods:A total of 147 blood samples were collected from newly-diagnosed HIV-1 infected who received no antiviral therapy, and pol gene was amplified, followed by sequencing. MEGA6.0 software was used to construct phylogenetic tree and determine gene subtypes. HIVDB online was used to analyze drug resistance mutation, then the pairwise genetic distance(GD) was calculated and the opitimal threshold of GD was selected, finally the molecular transmission network was constructed by Cytoscape3.7.0 software. Chi-square or Fisher′s exact probability method was used for statistical analysis. Results:A total of 134 sequences were obtained successfully, and nine subtypes were detected. The dominant subtypes were CRF08_BC (34.33%, 46/134), CRF01_AE (29.85%, 40/134) and CRF07_BC (23.88%, 32/134). It also found that age, registered residence, education level and transmission route had significant differences in distribution of subtypes ( P<0.05). Nineteen drug resistance individuals were found, and the total drug resistance rate was 14.18% (19/134). The HIV-1 molecular transmission network was plotted based on 1.2% GD threshold. A total of 15 transmission clusters (cluster size ranging from 2 to 29) were found. The network access rate was 49.25% (66/134), mainly including male (75.76%, 50/66), heterosexual (81.82%, 54/66) and patientsrinfected with CRF08_ BC (50.00%, 33/66). A transmission cluster including two cases of female sex workers and seven cases of drug resistance was identified, in which the average age of the patients was 57.21 years old and the average degree value was 22.7, and the cases were mainly infected through heterosexual contact (96.55%, 28/29). The highest homology of the sequences in the cluster was in Yunnan. Conclusions:The HIV-1 subtypes were diverse in the mountainous area of southwest Zhejiang Province(Lishui city). Drug resistant transmission had reached a moderate epidemic level. There were molecular transmission clusters with the aggregation characteristics of elderly clients in specific regions. It was urgent to formulate and implement precise intervention strategies to curb the spread of HIV.

6.
Shanghai Journal of Preventive Medicine ; (12): 331-334, 2022.
Article in Chinese | WPRIM | ID: wpr-924167

ABSTRACT

ObjectiveTo determine the epidemiological characteristics and risk factors of a norovirus GII.17 outbreak in Minhang District of Shanghai in 2018, and provide evidence for prevention and control measures of norovirus infection. MethodsDescriptive epidemiological analysis was performed. In addition, a retrospective cohort study was conducted to determine the risk factors. ResultsFrom May 30th to June 1st of 2018, a total of 132 cases (126 clinical cases and 6 confirmed cases) were documented,with an attack rate of 29.20%(132/452).All cases were children in a kindergarten, with the average age of 5 years and 43.9% being male. The cases were reported in all the classes, with no clustering by class or floor.The epidemic curve was characterized by a point source exposure, which was estimated to be probably between 7 AM on May 30thand 0:30 AM on May 31st. The retrospective cohort study showed that the attack rate significantly differed between the children who had taken and did not take the school lunch (RR=∞) on May 30th,and those who had taken and did not take seafood noodles (RR=4.11, 95%CI:1.09-15.55) (P<0.05). Among a total of 73 specimens, six specimens collected in child cases and one specimen in an asymptomatic chef tested positive for GII.17 type of norovirus. In addition, one retained food specimen of seafood noodles was positive for Aeromonas hydrophila. Viral shedding in the asymptomatic chef remained over 30 days. ConclusionThe outbreak was caused by seafood noodles contaminated by norovirus. It warrants enhancement in the regulation of food safety in canteens and regular examination of norovirus infection in catering industry employees.

7.
Journal of Public Health and Preventive Medicine ; (6): 76-80, 2022.
Article in Chinese | WPRIM | ID: wpr-924025

ABSTRACT

Objective To investigate the epidemiological and pathogenic characteristics of viral diarrhea in Minhang District, Shanghai. Methods Random sampling on diarrhea was conducted in intestinal outpatient departments of 2 sentinel hospitals according to a certain sampling interval in Minhang District,Shanghai from 2014 to 2020. Real time PCR technology was used to detect Rotavirus, Norovirus, adenovirus, Astrovirus and Sapovirus in fecal samples. Results A total of 646 out of 1 839 stool specimenswere tested positive, and the positive rate was 35.13%.Five pathogenic viruses were detected , mostly norovirus (421 cases, 65.17%) followed by rotavirus (151 cases, 23.37%).The positive rate of norovirus was higher in the age group of 20- 69 years, and the positive rate of Rotavirus was higher in the age group of 0- 9 years. Conclusions Norovirus and rotavirus accounted for the majority of reported infection diarrhea cases in MinhangDistrict of Shanghai from 2014 to 2020, with significant seasonal peaks. Tailored prevention and control measures should be carried out, particularly in risk seasons.

8.
Chinese Journal of Medical Education Research ; (12): 765-768, 2021.
Article in Chinese | WPRIM | ID: wpr-908877

ABSTRACT

Our endocrinology teaching group has carried out the application and exploration of mobile APP teaching mode based on Superstar learning. Through the questionnaire survey, students thought there was no significant difference between mobile APP teaching and traditional teaching in knowledge understanding and memory. But the classroom atmosphere of mobile APP teaching was relaxed and active, which helps to improve learning interest and self-learning ability, and the problems after class can be solved by feedback in time. Through the sharing of experience on the whole course management in endocrinology mobile APP teaching, it is expected to provide positive reference for the mobile teaching mode of medical education in the future.

9.
Protein & Cell ; (12): 472-482, 2020.
Article in English | WPRIM | ID: wpr-828778

ABSTRACT

Immunotherapy has been applied successfully to treat B-cell lymphomas in preclinical models or clinical settings. However, immunotherapy resistance is a major challenge for B-cell lymphoma treatment. To overcome this issue, combinatorial therapeutic strategies have been pursued to achieve a better efficacy for treating B-cell lymphomas. One of such strategies is to combine immunotherapy with histone deacetylase (HDAC) inhibitors. HDAC inhibitors can potentially increase tumor immunogenicity, promote anti-tumor immune responses, or reverse immunosuppressive tumor environments. Thus, the combination of HDAC inhibitors and immunotherapy has drawn much attention in current cancer treatment. However, not all HDAC inhibitors are created equal and their net effects are highly dependent on the specific inhibitors used and the HDACs they target. Hence, we suggest that optimal treatment efficacy requires personalized design and rational combination based on prognostic biomarkers and unique profiles of HDAC inhibitors. Here, we discuss the possible mechanisms by which B-cell lymphomas acquire immunotherapy resistance and the effects of HDAC inhibitors on tumor cells and immune cells that could help overcome immunotherapy resistance.

10.
Protein & Cell ; (12): 472-482, 2020.
Article in English | WPRIM | ID: wpr-828614

ABSTRACT

Immunotherapy has been applied successfully to treat B-cell lymphomas in preclinical models or clinical settings. However, immunotherapy resistance is a major challenge for B-cell lymphoma treatment. To overcome this issue, combinatorial therapeutic strategies have been pursued to achieve a better efficacy for treating B-cell lymphomas. One of such strategies is to combine immunotherapy with histone deacetylase (HDAC) inhibitors. HDAC inhibitors can potentially increase tumor immunogenicity, promote anti-tumor immune responses, or reverse immunosuppressive tumor environments. Thus, the combination of HDAC inhibitors and immunotherapy has drawn much attention in current cancer treatment. However, not all HDAC inhibitors are created equal and their net effects are highly dependent on the specific inhibitors used and the HDACs they target. Hence, we suggest that optimal treatment efficacy requires personalized design and rational combination based on prognostic biomarkers and unique profiles of HDAC inhibitors. Here, we discuss the possible mechanisms by which B-cell lymphomas acquire immunotherapy resistance and the effects of HDAC inhibitors on tumor cells and immune cells that could help overcome immunotherapy resistance.

11.
Chinese Journal of Pancreatology ; (6): 132-136, 2020.
Article in Chinese | WPRIM | ID: wpr-865677

ABSTRACT

Objective:To investigate the correlation of c-MET expression with circulating miR-34a and miR-449 level in pancreatic cancer tissue and its clinical significance.Methods:A total of 41 patients with pancreatic cancer treated surgically and pathologically confirmed from March 2015 to March 2017 were collected in Second Affiliated Hospital of Jiaxing Medical College. The expression of hepatocyte growth factor receptor (c-MET) in pathological tissues and matching adjacent normal tissues was determined by immunohistochemistry. The patients were divided into c-MET positive group ( n=26) and c-MET negative group ( n=15) according to the results. Peripheral blood was collected before and 3 months after the operation, and the expressions of circulating miRNA34a (miR-34a) and miR-449 were determined by fluorescence quantitative PCR. The relationships between c-MET in pancreatic cancer tissue and clinicopathological features, prognosis, circulating miR-34a expression, and miR-449 expression were analyzed. The effects of circulating miR-34a and miR-449 expression on TNM stage, lymph node metastasis and prognosis of pancreatic cancer patients were analyzed. Results:The positive rate of c-MET in pancreatic cancer was obviously higher than that in adjacent normal tissue (63.4% vs 24.4%), and the difference was statistically significant ( P<0.05). Compared with c-MET negative group, the TNM stage Ⅲ/Ⅳ cases in c-MET positive group were more (73.1% vs 33.4%), the lymph node metastasis rate in c-MET positive group (76.9% vs 46.7%) were higher, and the follow-up survival time of c-MET positive group was shorter (29.5 mo vs 35 mo), and the survival rate of the c-MET positive group was lower (38.5% vs 53.3%), and the differences were statistically significant (all P<0.05). Before surgery, the expressions of circulating miR-34a and miR-449 in the c-MET positive group were lower than those in the c-MET negative group (0.228±0.068 vs 0.524±0.106, 0.252± 0.063 vs 0.432±0.094, P<0.05). After surgery, the miR-449 expression in c-MET positive group was still lower than that in c-MET negative group (0.414±0.088 vs 0.512±0.114, P<0.05), while there was no statistically significant difference on miR-34a between the two groups. Preoperative miR-34a and miR-449 expression had predictive value for TNM stage, lymphatic metastasis and prognosis ( P<0.05). Conclusions:miR-34a and miR-449 may target c-MET in pancreatic cancer tissue, which could be used as potential tumor markers for pancreatic cancer.

12.
Chinese Journal of Experimental Ophthalmology ; (12): 750-754, 2019.
Article in Chinese | WPRIM | ID: wpr-753231

ABSTRACT

Objective To analysis the gene mutation spectrum of retinitis pigmentosa ( RP ) patients in Ningxia Region of China. Methods Fifty-five pedigrees and 74 sporadic RP patients were included in Ningxia Eye Hospital from January 2015 to December 2016. Two hundred unrelated healthy adults were enrolled as normal controls during the same period. The clinical features of patients and their family members were evaluated by ophthalmic examinations,including visual acuity,best corrected visual acuity,fundus examination,optical coherence tomography, fundus fluorescein angiography,and visual field and electroretinogram. The next generation sequencing,PCR and direct sequencing were used to confirm the pathogenic mutation. This study was approved by Ethic Committee of the Ningxia Eye Hospital (NO. 20150107),and informed consent was obtained from each subject. Results The mutations were detected in 37 RP pedigrees, 8 pedigrees showed autosomal dominant inheritance and 6 pathogenic genes were confirmed,all the autosomal dominant RP ( ADRP ) patients carried a single heterozygous mutation. Twenty-five pedigrees were autosomal recessive RP ( ARRP) and 12 pathogenic genes were confirmed. Among ARRP patients,the mutations rate of USH2A gene was the highest,accounting for 28% (7/25),EYS gene and MYO7A gene accounted for 12% (3/25). Four X-linked RP (XLRP) pedigrees carried the homozygous mutations on RPGR gene. Twenty-five disease-causing genes were detected in 49 sporadic RP patients. The mutation rate of USH2A gene was the highest, accounting for 26. 5% ( 13/49 ) , followed by RP1 gene, accounting for 8. 1% ( 4/49 ) . Conclusions Recessive inheritance is the most common cause of RP. USH2A gene is the main pathogenic gene of RP in Ningxia region of China.

13.
Chinese Journal of Pancreatology ; (6): 103-106, 2019.
Article in Chinese | WPRIM | ID: wpr-744128

ABSTRACT

Objectives To investigate the relationship between the expression of hENT1 protein in pancreatic cancer and the efficacy,adverse reactions and prognosis of gemcitabine.Methods The tissues of 83 patients with pancreatic cancer diagnosed in Department of Hepatobiliary and Pancreatic Surgery of Jiaxing Second Hospital and Jiaxing City Hospital of Traditional Chinese Medicine from June 2013 to January 2016 were collected by endoscopic fine needle aspiration biopsy.The expression of hENT1 protein was detected by immunohistochemistry,which was divided into hENT1 low expression group and high expression group.According to the curative effect of chemotherapy,it was divided into gemcitabine effective group and drug resistance group.The clinicopathological parameters,adverse reaction rate,median survival,and progressionfree survival (PFS) were compared between the two groups.Results Of the 83 pancreatic cancer tissues,37 (44.6%) had high expression of hENT1 and 46 (55.4%) had low expression.There were no significant correlations of the efficacy of gemcitabine chemotherapy with gender,age,clinical symptoms,primary tumor location,tumor size,TNM staging,CA19-9 level,CEA level,presence or absence of liver metastasis,but gemcitabine resistance rate in high expression group was significantly higher than the low expression group (78.1% vs 50.0%),and the difference was statistically significant (P =0.010).Both groups were able to tolerate adverse reactions of gemcitabine chemotherapy and no chemotherapy-related death was observed,but the incidence of leucopenia and thrombocytopenia in hENT1 low expression group was significantly higher than those in bENT1 protein high expression group (63.0% vs 21.6%,47.8% vs 16.2%),the differences was statistically significant (all P < 0.05).The median survival and 1-year PFS of hENT1 protein low expression group were significantly lower than those of high expression group (11 months vs 15 months,19.4% vs 50%),and the differences were statistically significant (P <0.05).Conclusions Decreased hENT1 protein expression in pancreatic cancer tissue could reduce the efficacy of gemcitabine chemotherapy,increasing the incidence of leucopenia and thrombocytopenia.

14.
Chinese Journal of Microbiology and Immunology ; (12): 821-826, 2019.
Article in Chinese | WPRIM | ID: wpr-801003

ABSTRACT

Objective@#To investigate the antimicrobial resistance, macrolide-resistance genes, virulence genes and emm types in Streptococcus pyogenes isolates.@*Methods@#A total of 247 oropharyngeal swab specimens were collected from pediatric outpatients (aged 2-11 years) who were clinically diagnosed as scarlet fever in Children′s Hospital of Fudan University from January to December, 2018. These specimens were timely sent to the Microbiology Laboratory for isolation and identification of Streptococcus pyogenes strains were isolate after culturing and identified with bacitracin susceptibility test. Moreover, the diameter of bacitracin inhibition zone was measured by vernier caliper. Their susceptibility to seven antibiotics, including erythromycin, clarithromycin, clindamycin, ampicillin, ceftriaxone, norfloxacin and chloramphenicol, were measured using KB method. Macrolide-resistance genes (mefA, ermA, ermB and Tn916 transposon) and virulence genes (speA, speB, speC, speG, speH, speI, speJ and speK) were detected by PCR. Amplification and sequencing of emm gene were conducted according to the protocol in the website of Centre for Disease Control and Prevention (CDC).@*Results@#A total of 86 strains of Streptococcus pyogenes were isolated from the 247 specimens. Their resistance rates to erythromycin, clarithromycin and clindamycin were 89.5%, 95.3% and 96.5%, respectively. However, these isolates showed high susceptibility to ampicillin (100.0%), ceftriaxone (100.0%), norfloxacin (90.7%) and chloramphenicol (95.3%). The positive rates of mefA, ermA, ermB and Tn916 genes were 20.9%, 24.4%, 98.8% and 97.7%. There was significant difference in the mefA-carrying rates between patients with scarlet fever and angina. The positive rates of virulence genes of speA, speB, speC, speG, speH, speI, speJ, speK, speL and speM were 8.1%, 100.0%, 95.3%, 100.0%, 80.2%, 90.7%, 10.5%, 100.0%, 5.8% and 5.8%. Seven emm types were identified and the predominant types were emm12.0 (75.6%), emm12.19 (9.3%) and emm1.0 (8.1%). The diameter of bacitracin inhibition zone was smaller in isolates of emm1.0 type than in emm12.0 type strains. The profile of virulence genes varied in the strains of different emm types. All types of strains carried speB, speG and speK genes. The isolates of emm1.0 type carried speA virulence gene, while speB, speC, speG, speH, speI and speK genes were more often identified in emm12.0 type isolates.@*Conclusions@#This study showed that emm types were associated with the profile of virulence genes and the diameter of bacitracin inhibition zone. It was recommended that the diameter of bacitracin inhibition zone should be measured in bacitracin inhibition susceptibility test apart from only observing the formation of inhibition zone.

15.
Chinese Journal of Experimental Ophthalmology ; (12): 888-895, 2019.
Article in Chinese | WPRIM | ID: wpr-800993

ABSTRACT

Objective@#To analysis the genotype and phenotype of hereditary retinal diseases (HRD) which are easily misdiagnosed as amblyopia.@*Methods@#A case-control study was designed.The patients with HRD who were misdiagnosed as amblyopia in Ningxia Eye Hospital from January to December, 2017 were recruited in this study.The clinical medical history and ophthalmic examinations of patients and their family members were recorded, and family maps were drawed.Peripheral venous blood (5 ml) from each patient and their family members was collected, and genomic DNA was extract.The target sequence capture sequencing technology was used to detect the genetic testing in serum of the patient, and the pathogenic mutation site was determined by Sanger sequencing and co-segregation verification.Genetic testing results with related ophthalmic examination were considered together to analyze the relationship between genotype and phenotype.This study followed the Declaration of Helsinki.Written informed consent was obtained from each subject or the guardian prior to entering study cohort.This study protocol was approved by Ethic Committee of People's Hospital of Ningxia Hui Autonomous Region Hospital (No.2016018).@*Results@#Twenty-two patients with HRD were enrolled in the study, including 10 Stargardt disease (STGD), 8 cases of cone dystrophy (COD) or cone and rod dystrophy (CRD), and 5 cases of familial exudative vitreoretinopathy(FEVER). Nine patients were detected to have pathogenic mutations, and the positive rate was 40.9%, of which 4 patients with STGD carried mutation gene, including ABCA4 and PROM1 genes; mutations in RPGR, PROM1 and GUCY2D genes were detected in 3 patients with COD or CRD; TSPAN12 gene mutation were detected in 2 patients with FEVER.Eleven mutation sites were detected, 4 of which were newly discovered mutation sites.All of the patients in 9 HRD families developed symptoms during adolescence.At the early stage of the disease, there was severe damage to the eyesight, but the fundus was normal or only slightly abnormal.As the disease progressed, the fundus changes were characteristic, and there were clinical phenotypic overlap between some diseases.All family genotypes and clinical phenotypes were co-separated.@*Conclusions@#The main pathogenic gene of STGD is ABCA4 gene, and PROM1 gene can also cause partial STGD; COD and CRD have similar clinical manifestations, and the pathogenic genes also cross each other, and the genetic pattern is diverse; FEVER caused by mutation of TSPAN12 gene is autosomal dominant, and the mutation type has missense mutation and frameshift mutation.HRDs lack typical early clinical signs, and genetic diagnosis can provide pre-symptomatic diagnosis.

16.
Chinese Journal of Radiological Medicine and Protection ; (12): 926-930, 2019.
Article in Chinese | WPRIM | ID: wpr-800168

ABSTRACT

Objective@#To compare the dosimetrics of the plan target volume (PTV) and organs at risk (OARs) between two treatment planning approaches for patients with multiple brain metastases from non-small cell lung cancer on CyberKnife.@*Methods@#20 patients with multiple metastases from lung carcinoma were reviewed and analyzed, who had been treated by CyberKnife from December 2017 to December 2018. The CyberKnife stereotactic radiotherapy plans of the 20 cases were re-planed with single plan for multiple lesions and multiple plans per lesion. The dosimetry differences of PTV and OARs isodose disribution, conformity index (CI), total beam counts and total monitor units (MUs) were compared in the two types of plans.@*Results@#The two types of plans could satisfy over 95% PTV coverage of the prescription dose. The maximum and mean dose of normal brain adjacent to the PTV were reduced in multiple plan approach effectively. Moreover, the maximum and mean dose of OARs (brainstem) dropped by 1.62% and 5.57% (t=1.09, P<0.01) respectively. The number of treatment nodes and total MU declined by 4.63% (t=1.87, P<0.01)and 1.06% in multiple plan approach, which could significantly shorten the clinical treatment time. The differences in CI index between these two types of plans was of no statistical significance.@*Conclusions@#For patients with multiple brain metastases of similar diameter and volume from non-small cell lung cancer to be treated on CyberKnife, multiple plans per lesion could not only reduce dose to normal brain tissue and OARs, but also improve the treatment efficiency.

17.
Chinese Journal of Experimental Ophthalmology ; (12): 750-754, 2019.
Article in Chinese | WPRIM | ID: wpr-797622

ABSTRACT

Objective@#To analysis the gene mutation spectrum of retinitis pigmentosa (RP) patients in Ningxia Region of China.@*Methods@#Fifty-five pedigrees and 74 sporadic RP patients were included in Ningxia Eye Hospital from January 2015 to December 2016.Two hundred unrelated healthy adults were enrolled as normal controls during the same period.The clinical features of patients and their family members were evaluated by ophthalmic examinations, including visual acuity, best corrected visual acuity, fundus examination, optical coherence tomography, fundus fluorescein angiography, and visual field and electroretinogram.The next generation sequencing, PCR and direct sequencing were used to confirm the pathogenic mutation.This study was approved by Ethic Committee of the Ningxia Eye Hospital (NO.20150107), and informed consent was obtained from each subject.@*Results@#The mutations were detected in 37 RP pedigrees, 8 pedigrees showed autosomal dominant inheritance and 6 pathogenic genes were confirmed, all the autosomal dominant RP (ADRP) patients carried a single heterozygous mutation.Twenty-five pedigrees were autosomal recessive RP (ARRP) and 12 pathogenic genes were confirmed.Among ARRP patients, the mutations rate of USH2A gene was the highest, accounting for 28% (7/25), EYS gene and MYO7A gene accounted for 12% (3/25). Four X-linked RP (XLRP) pedigrees carried the homozygous mutations on RPGR gene.Twenty-five disease-causing genes were detected in 49 sporadic RP patients.The mutation rate of USH2A gene was the highest, accounting for 26.5% (13/49), followed by RP1 gene, accounting for 8.1% (4/49).@*Conclusions@#Recessive inheritance is the most common cause of RP.USH2A gene is the main pathogenic gene of RP in Ningxia region of China.

18.
Chinese Journal of Radiological Medicine and Protection ; (12): 926-930, 2019.
Article in Chinese | WPRIM | ID: wpr-824494

ABSTRACT

Objective To compare the dosimetrics of the plan target volume (PTV) and organs at risk (OARs) between two treatment planning approaches for patients with multiple brain metastases from non-small cell lung cancer on CyberKnife.Methods 20 patients with multiple metastases from lung carcinoma were reviewed and analyzed,who had been treated by CyberKnife from December 2017 to December 2018.The CyberKnife stereotactic radiotherapy plans of the 20 cases were re-planed with single plan for multiple lesions and multiple plans per lesion.The dosimetry differences of PTV and OARs isodose disribution,conformity index (CI),total beam counts and total monitor units (MUs) were compared in the two types of plans.Results The two types of plans could satisfy over 95% PTV coverage of the prescription dose.The maximum and mean dose of normal brain adjacent to the PTV were reduced in multiple plan approach effectively.Moreover,the maximum and mean dose of OARs (brainstem) dropped by 1.62% and 5.57% (t =1.09,P<0.01) respectively.The number of treatment nodes and total MU declined by 4.63% (t=1.87,P<0.01) and 1.06% in multiple plan approach,which could significantly shorten the clinical treatment time.The differences in CI index between these two types of plans was of no statistical significance.Conclusions For patients with multiple brain metastases of similar diameter and volume from non-small cell lung cancer to be treated on CyberKnife,multiple plans per lesion could not only reduce dose to normal brain tissue and OARs,but also improve the treatment efficiency.

19.
Chinese Journal of Ocular Fundus Diseases ; (6): 526-535, 2018.
Article in Chinese | WPRIM | ID: wpr-711963

ABSTRACT

Objective To observe the gene mutation and clinical phenotype of patients with retinitis pigmentosa (RP) and cone rod dystrophy (CORD).Methods Thirty-seven patients with RP and 6 patients with CORD and 95 family members were enrolled in the study.The patient's medical history and family history were collected.All the patients and family members received complete ophthalmic examinations to determine the phenotype,including best corrected visual acuity,slit lamp microscope,indirect ophthalmoscopy,color fundus photography,optical coherence tomography,full-field electroretinogram,and fluorescein fundus angiography.DNA was abstracted from patients and family members.Using target region capture sequencing combined with next-generation sequencing to screen the 232 candidate pathogenic mutations.Polymerase chain reaction and direct sequencing were used to confirm the pathogenic pathogenic mutations and Co-segregation is performed among members in the family to determine pathogenic mutation sites.The relationship between genotype and clinical phenotype of RP and CORD was analyzed.Results Of the 37 patients with RP,13 were from 6 families,including 4 families with autosomal dominant inheritance,2 families with autosomal recessive inheritance,and 3 in 6 families were detected pathogenic gene mutations.24 cases were scattered RP.Six patients with CORD were from four families,all of which were autosomal recessive.Of the 43 patients,21 patients were detected the pathogenic gene mutation,and the positive rate was 48.8%.Among them,15 patients with RP were detected 10 pathogenic gene mutations including USH2A,RP1,MYO7A,C8orf37,RPGR,SNRNP200,CRX,PRPF31,C2orf71,IMPDH1,and the clinical phenotype included 10 typical RP,2 cases of RPSP,3 cases of Usher syndrome type 2 and 6 cases of CORD patients were all detected pathogenic gene mutations,including 2 cases of ABCA4,2 mutations of RIMS 1 gene,1 case of CLN3 gene mutation,and 1 case of CRB 1 and RPGR double gene mutation.Conclusions RP and CORD are clinically diverse in genotype and clinically phenotypically similar.For patients with early RP and CORD,clinical phenotype combined with genetic analysis is required to determine the diagnosis of RP and CORD.

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Chinese Journal of Hepatobiliary Surgery ; (12): 321-324, 2018.
Article in Chinese | WPRIM | ID: wpr-708410

ABSTRACT

Objective To establish a novel method using a nano microfluidic chip to detect circulating tumor cells (CTCs) in peripheral blood in gallbladder carcinoma,and to study the relationship between CTCs with clinicopathology and prognosis in these patients.Methods The peripheral blood samples of 51 patients with gallbladder carcinoma were collected from June 2014 to January 2017.The CTCs from peripheral blood samples were detected by a novel nano microfluidic chip.This study aimed to study the correlation between CTCs with the clinical and pathological features.The significance of CTCs on prognosis in patients with gallbladder carcinoma was also analyzed.Results The positive rate of CTCs in the peripheral blood of gallbladder carcinoma patients was 43.1% (22/51).There were significant correlations between CTCs with liver metastasis (P < 0.05) and Nevin staging (P < 0.05).The 1-and 2-year overall survival (OS) in patients with CTCs were 70.7% and 35.3%,and the 1-and 2-year OS in patients without CTCs were 92.0% and 56.1%.There was a significant difference in the 2-year OS (P < 0.05) but no significant difference in the 1-year OS between the 2 groups of patients (P > 0.05).Conclusions Peripheral blood CTCs in patients with gallbladder carcinoma were efficaciously detected by a novel nano microfluidic chip.Peripheral blood CTCs was closely related to the Nevin staging and liver metastasis.CTCs could serve as a potential prognostic indicator in patients with gallbladder carcinoma.

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