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1.
Chinese Journal of School Health ; (12): 367-370, 2021.
Article in Chinese | WPRIM | ID: wpr-875697

ABSTRACT

Objective@#To identify the lifestyle pattern of adolescents in Guangzhou and to provide a scientific basis for targeted and individualized interventions for adolescents with different lifestyle pattern.@*Methods@#A survey was conducted by questionnaire among 12 540 students from 27 middle schools in the urban area of Guangzhou using a convenient sampling method. The latent class model (LCM) was used to identify lifestyle patterns of adolescents, and further analyses were conducted to compare differences in dietary habits and willingness to exercise among the different classes.@*Results@#Three lifestyle patterns were identified based on the latent class model: "high sweet snacks/excessive screen time, sleep and exercise deficiency group", 3 797 people, accounting for 30.3%; "low nutrition diet/severe sleep and exercise deficiency group", 2 745 people, accounting for 21.9%; "general diet/sleep and exercise deficiency group", 5 998 people, accounting for 47.8%. Adolescents of different classes had different perceptions of their eating habits and different degrees of willingness to participate in physical exercise, these differences were statistically significant(χ 2=671.54, Z=153.16, P<0.05).@*Conclusion@#The results of the latent class model showed that the three classes of adolescents had their own unique characteristics. It is necessary to inform them of their needs, provide guidance and implement targeted interventions according to the unique characteristics of the different lifestyle patterns in empirical work.

2.
Article in Chinese | WPRIM | ID: wpr-879524

ABSTRACT

OBJECTIVE@#To explore the genotype-phenotype correlation of a case with Sifrim-Hitz-Weiss syndrome (SIHIWES) caused by a novel CHD4 gene variant.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient and her parents. Whole-exome sequencing (WES) was carried out for the patient.Suspected variant was verified by Sanger sequencing.@*RESULTS@#The proband, a 2-year-old Chinese girl, presented with global developmental delay, intellectual disability, distinctive facial features and multiple congenital anomalies. Her prenatal manifestations included increased nuchal thickness, cranial and facial anomalies, and decreased fetal movement. WES has identified a novel variant in the CHD4 gene, namely NM_001273:c.2989C>G (p.Leu997Val) (GRCh37/hg19).Comparison of her phenotype with previously reported SIHIWES cases suggested that our patient's prenatal presentations were unreported before, with novel features including funduscopic anomaly, facial dysmorphisms such as asymmetrical ears, drooping eyelid, long philtrum and downturned mouth.@*CONCLUSION@#Above findings have expanded the mutational spectrum of the CHD4 gene and revealed novel phenotypes in Chinese patients with SIHIWES.


Subject(s)
Child, Preschool , China , Congenital Abnormalities/genetics , Female , Genetic Association Studies , Genetic Testing , Humans , Mi-2 Nucleosome Remodeling and Deacetylase Complex/genetics , Phenotype , Pregnancy , Syndrome , Whole Exome Sequencing
3.
Acta Pharmaceutica Sinica B ; (6): 544-559, 2021.
Article in English | WPRIM | ID: wpr-881153

ABSTRACT

Multi-modal therapeutics are emerging for simultaneous diagnosis and treatment of cancer. Polymeric carriers are often employed for loading multiple drugs due to their versatility and controlled release of these drugs in response to a tumor specific microenvironment. A theranostic nanomedicine was designed and prepared by complexing a small gadolinium chelate, conjugating a chemotherapeutic drug PTX through a cathepsin B-responsive linker and covalently bonding a fluorescent probe pheophorbide a (Ppa) with a branched glycopolymer. The branched prodrug-based nanosystem was degradable in the tumor microenvironment with overexpressed cathepsin B, and PTX was simultaneously released to exert its therapeutic effect. The theranostic nanomedicine, branched glycopolymer-PTX-DOTA-Gd, had an extended circulation time, enhanced accumulation in tumors, and excellent biocompatibility with significantly reduced gadolinium ion (Gd

4.
Article in Chinese | WPRIM | ID: wpr-877097

ABSTRACT

Objective To analyze the awareness rate and treatment and control rate of hypertension as well as the related influencing factors among residents aged 35-75 years in Chongqing, and to provide a reference for comprehensive prevention and control of hypertension. Methods Residents between the ages of 35 and 75 years old were recruited from 8 sites of China Patient-centered Evaluative Assessment of Cardiac Events in Chongqing. All participants were interviewed with structured questionnaires, and physical examination, glucose test and lipid test were performed. The data were analyzed by SPSS 25.0. The differences in the rates of awareness, treatment and control of hypertension of different populations were compared by chi-square test. The related factors influencing the rates of awareness, treatment and control of hypertension were identified by step backward bivariate multivariate logistic regression model. Results A total of 101 036 cases were recruited into this study. The prevalence rates of dyslipidemia, hypertension and diabetes were 31.48%, 40.80% and 17.16%, respectively. The age standardized prevalence rates of dyslipidemia, hypertension and diabetes were 30.81%, 33.91% and 14.35%, respectively. The rates of awareness, treatment and control of hypertension were 45.65%, 36.03% and 11.60%, respectively. The result of multivariate logistic regression analysis indicated that factors including age, household registration, occupation, alcohol use, smoking status, body weight, central obesity, diabetes, and dyslipidemia were related to the awareness rate of hypertension. Factors including age, household registration, race, household income, alcohol use, body weight, central obesity, diabetes, and dyslipidemia were related to the treatment rate of hypertension. Factors including age, household registration, household income, alcohol use, central obesity and diabetes were related to the rate of blood pressure control. Conclusion The prevalence of hypertension was high in Chongqing, but the rate of awareness, treatment and control of hypertension was low. It is suggested that comprehensive measures should be implemented to raise the rate of awareness, treatment and control of hypertension for the prevention and control of hypertension.

5.
Article in Chinese | WPRIM | ID: wpr-876857

ABSTRACT

Objective To study the effect of SLCO1B1 521 T>C and APOE gene polymorphisms on the clinical efficacy and safety of atorvastatin in ischemic stroke patients with dyslipidemia. Methods 210 cases of ischemic stroke with dyslipidemia were enrolled from April 2018 to December 2018 to determine SLCO1B1 521 T>C and APOE gene polymorphisms. Patients received atorvastatin 20 mg/d orally. TC, TG, HDL-C, LDL-C levels were measured to evaluate the efficacy 3 months pre-and post- treatment. TBil, ALT, AST, CK levels were assayed with following up adverse reactions to evaluate safety. Results SLCO1B1 521 T>C genotype distribution was TT79.05%, TC19.05%, CC1.90%. E2, E3, E4 allele frequencies of APOE genes were 14.28%, 67.62%, 18.10%. Each genotype conforms to the law of Hardy-Weinberg balance. After three months of medication, there were significant differences in TC, TG, LDL-C, HDL-C changes in patients with different APOE genotypes. No obvious abnormality was found in safety index. The incidence of myalgia in SLCO1B1521 T>C mutant group was significantly higher than that in the wild group (P<0.01). Conclusion Lipid regulation of atorvastatin was affected by APOE gene polymorphism. SLCO1B1521 T>C may be associated with myalgia, the adverse reaction of atorvastatin. The detection of SLCO1B1 and APOE genotyping is helpful for individualized treatment of blood lipids and provides basis for rational use of statins in patients for drug therapy management.

6.
Article in Chinese | WPRIM | ID: wpr-815387

ABSTRACT

Objective@#To evaluate effects of mobile health intervention on vegetables and fruits intakes, screen time, body mass index, BMI Z score and waist circumference in children and adolescents.@*Methods@#The literature search was performed to find articles published up to December 2018 in the databases: PubMed, Embase, Cochrane Library, CNKI, Wanfang. The articles focusing on the keywords of "prevention" "children" "adolescents" "obesity" "weight loss" "m-Health" "mobile phone" "mobile application" "mobile techonology" "cell phone" "smartphone" "mobile apps" for the delivery of children and adolescents obesity interventions were included. Stata 13.0 software was used for Meta-analysis.@*Results@#A total of 15 studies were included, and mobile health had an effect on the vegetables and fruits intakes and screen time for children and adolescents. Mobile health was more effective in the intervention participants compared to controls, the standardized mean difference (SMD) and 95%CI were 0.54 (95%CI=0.27-0.81) and -0.32(95%CI=-0.47--0.18),respectively. However, no statistical differences in the BMI, BMI Z score and waist circumference were found between intervention and control groups.@*Conclusion@#The effect of mobile health intervention on obesity in children and adolescents needs more long-term follow-up and larger sample size studies to clarify.

7.
Article in Chinese | WPRIM | ID: wpr-864718

ABSTRACT

Objective:To analyze the research hotspot of advance care planning (ACP) at home and abroad, understand the research status and development trend of this field, and provide reference for the development of ACP in China.Methods:The recently literature of ACP through PubMed and Wan Fang database was searched, then bibliographic information data mining system and graph clustering tool kit cluster analysis were used.Results:A total of 2 717 articles were retrieved, extracted high frequency keywords that account for more than 50% of the total, including 35 domestic subject words and 89 foreign "main subject words+ sub-subject words" . Domestic research hotspots included: culture and value of ACP and advance directives, implementation and implementation status of ACP, research progress of ACP, research of ACP acceptance, attitudes and status of medical staff about ACP and advance directives. Foreign research hotspots included: the role of advance directives in ACP and its evaluation and application, influencing factors of ACP selection preference in terminal patients, status and methods of agency decision making, ACP and hospice care, the impact of end-of-life choices on care and quality of life, auxiliary decision-making mode of ACP.Conclusions:Although relevant research on ACP in China has been in the exploratory stage, there is still a gap in the breadth and depth of research at home and abroad. Research forms, objects and contents of ACP need to be deepened. In the future, the research should actively explore the new mode of ACP development in combination with China′s policy and cultural background.

8.
Article in Chinese | WPRIM | ID: wpr-798656

ABSTRACT

Objective@#To delineate the clinical features, inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication.@*Methods@#Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization(FISH) were employed for the analysis of the proband and his family members.@*Results@#A 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal.@*Conclusion@#Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family.P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.

9.
Article in Chinese | WPRIM | ID: wpr-781295

ABSTRACT

OBJECTIVE@#To delineate the clinical features,inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication.@*METHODS@#Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization (FISH) were employed for the analysis of the proband and his family members.@*RESULTS@#A 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal.@*CONCLUSION@#Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family. P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.


Subject(s)
Abnormalities, Multiple , Genetics , Adult , Child, Preschool , China , Chromosome Duplication , Chromosomes, Human, Pair 17 , Genetics , Developmental Disabilities , Genetics , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male , Microtubule-Associated Proteins , Translocation, Genetic
10.
Article in Chinese | WPRIM | ID: wpr-826531

ABSTRACT

OBJECTIVE@#To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants.@*METHODS@#Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Suspected variant was verified by Sanger sequencing.@*RESULTS@#The patient was a 1-year-8-month old Chinese male who manifested short stature, psychomotor retardation, relative macrocephaly, distinctive facial features, and congenital heart disease. WES test revealed a heterozygous missense c.389A>G (p.Tyr130Cys) variant in the MAP2K1 gene. Sanger sequencing has confirmed the variant as de novo. According to ACMG/AMP guidelines, the variant was classified as pathogenic.@*CONCLUSION@#Compared with previously reported CFCS cases due to MAP2K1 variants. The patient showed obvious behavioral problems, good appetite and tricuspid regurgitation, which may to be novel features for CFCS.


Subject(s)
China , Ectodermal Dysplasia , Genetics , Facies , Failure to Thrive , Genetics , Genetic Association Studies , Genetic Variation , Heart Defects, Congenital , Genetics , Heterozygote , Humans , Infant , MAP Kinase Kinase 1 , Genetics , Male , Mutation , Whole Exome Sequencing
11.
Chinese Journal of Pathology ; (12): 444-447, 2019.
Article in Chinese | WPRIM | ID: wpr-805482

ABSTRACT

Objective@#To study the clinicopathological characteristics, immunophenotype, pathologic diagnosis and differential diagnosis of diffuse pulmonary meningotheliomatosis (DPM).@*Methods@#The clinical data, histological features and immunohistochemical results of three cases of DPM collected from January 2016 to May 2018 at Guangdong Provincial People′s Hospital were analyzed, and the relevant literature reviewed.@*Results@#The three DPM patients age was 53, 69 and 74 years. The lesions consisted of multiple minute pulmonary meningothelial-like nodules profusely involving the lungs. Microscopically, they showed typical morphology, characterized by medium-sized elongated tumor cells resembling meningothelial cells with whorled/nested clusters. The cells were uniform and had abundant eosinophilic cytoplasm with oval nuclei with delicate chromatin. Immunohistochemical staining showed tumor cells were diffusely and strongly positive for EMA, vimentin and PR, but were negative for CAM5.2, CgA, Syn, CK7 and TTF1.@*Conclusions@#DPM is extremely rare, and may be confused with primary interstitial pulmonary processes and metastatic malignant tumors of lung. Recognition of this entity is essential for pathologists to avoid misdiagnosis and unnecessary treatment.

12.
Chinese Journal of Pathology ; (12): 861-866, 2019.
Article in Chinese | WPRIM | ID: wpr-801210

ABSTRACT

Objective@#To assess clinical features and treatment outcomes in immunocompetent patients with primary central nervous system lymphoma (PCNSL).@*Methods@#Sixty-two patients with PCNSL who attended Guangdong General Hospital between January 1998 and January 2012 were included. Survival curves were estimated using Kaplan-Meier survival methodology and statistical significance of continuous was assessed via the Cox proportional hazard model.@*Results@#The median age of the patient cohort was 56 years, and the male to female ratio was 1.14∶1.00. The common presentations were increased intracranial pressure symptoms and neuron damage. Performance status of 54 (54/62, 87.1%) patients were the international prognostic index (IPI) 0-2. Diffuse large B-cell lymphoma (57/62, 91.9%) was most common, and the rest were T-cell lymphoma (4/62,6.4%) and extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (1/62, 1.6%). In the series, 32 patients (32/62, 51.6%) had multiple lesions. Involvement of deep structures was found in 30 (30/62, 48.4%) patients. An elevated serum LDH level was detected in 19 (19/62, 30.6%) patients and the Ki-67 index was ≥90% in 38 (38/62, 61.3%) patients. Univariate analysis showed patients who were female, age<60 years, had WHO Eastern Cooperative Oncology Group performance status grade 0-2, single lesion, absence of deep structures involvement and normal LDH level showed better 2-year survival rate and longer median survival time. Significance was only seen in the normal LDH level group. Multivariate Cox regression analysis revealed that radical surgery only and Rituximab+ high-dose of methotrexate+ whole brain radiation therapy (WBRT) were independent prognostic indicators in PCNSL patients (P<0.05).@*Conclusions@#PCNSL is a rare but aggressive tumor with poor prognosis. Patients treated with high-dose of methotrexate combining with rituximab, followed by WBRT have a better prognosis and longer survival time, and thus these could probably be a promising treatment.

13.
Chinese Journal of Pathology ; (12): 951-954, 2019.
Article in Chinese | WPRIM | ID: wpr-800346

ABSTRACT

Objectives@#To investigate the clinicopathological features, therapy and prognosis of primary cardiac CD5-positive diffuse large B-cell lymphoma with C-MYC and bcl-2 double expression.@*Methods@#Two cases diagnosed at Guangdong Provincial People′s Hospital were included, the clinical data were collected; the tumor morphology, immunophenotypic profiles, therapy and prognosis were analyzed.@*Results@#Case 1 was a 55-year-old man and case 2 was a 61-year-old women. Intraoperatively, both cases showed large masses in the right atrium or ventricle, involving adjacent tissue. Pathologically, the tumors were composed of diffusely infiltrating large lymphoid cells with high mitotic activity and apoptosis. The tumor cells were positive for CD20, CD5, bcl-6, MUM1, C-MYC and bcl-2, and the Ki-67 index was equal or greater than 90%. Case 1 had bcl-6, but not bcl-2 or MYC gene rearrangements. No MYC, bcl-2 or bcl-6 gene rearrangements were detected in case 2. Case 1 defaulted chemotherapy after operation and died 1 month after diagnosis. Case 2 was treated with 4 cycles of rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone (R-CHOP) therapy after surgery and attained partial remission, and was then treated with apatinib and ibrutinib, and remained stable 18 months after initial diagnosis.@*Conclusion@#Primary cardiac CD5-positive diffuse large B-cell lymphoma with C-MYC and bcl-2 double expression usually shows large infiltrative mass in the right atrium or ventricle, non-germinal center like immunophenotype and high proliferation index, and this may contribute to the aggressiveness of primary cardiac lymphoma.

14.
Journal of Chinese Physician ; (12): 624-627, 2019.
Article in Chinese | WPRIM | ID: wpr-744914

ABSTRACT

Parkinson's disease (PD) is a type of degenerative disease of the nervous system.In addition to its typical clinical symptoms,non-motor symptoms mainly include sensory disorders,neuropsychiatric disorders and autonomic nerve disorders,which also have serious effects on patients.This article reviews the performance,mechanism of non-motor symptoms to improve clinicians' attention and improve the quality of life for Parkinson's patients.

15.
Journal of Chinese Physician ; (12): 467-470, 2019.
Article in Chinese | WPRIM | ID: wpr-744890

ABSTRACT

Parkinson's disease (PD) is a neurodegenerative disease characterized by degeneration and deletion of dopaminergic neurons in the substantia nigra and a pathological feature of the Louis body.The clinical manifestations including non motor symptoms and motor symptoms.Cognitive impairment (CI)is one of the most common non motor symptoms in patients with PD,Which includes mild cognitive impairment (MCI) and dementia.MCI is an early manifestation of dementia in PD.Therefore,early diagnosis and treatment of MCI are very important for the prognosis of PD.The epidemiology,risk factors,heredity,biomarkers,imaging,diagnosis and treatment of MCI in PD are reviewed in this paper.

16.
Chinese Journal of Pathology ; (12): 293-297, 2019.
Article in Chinese | WPRIM | ID: wpr-810570

ABSTRACT

Objective@#To study the clinicopathological characteristics of cardiac neoplasms.@*Methods@#A total of 689 cases of cardiac neoplasms from January 1st 1992 to December 31th 2017 at Guangdong Provincial People′s Hospital were collected. The clinical data and histologic features were analyzed along with a review of literature. The pathological diagnosis and classification were based on the criteria of WHO 4th edition(2015).@*Results@#Among 689 cases of cardiac neoplasms, 259 were male and 430 were female patients, with age from 0 to 84 years (mean of 48 years). The peak incidence was between the fourth and sixth decade. Among patients younger than 20 years, there were 24 males and 12 females. 674 cases(674/689,97.8%)were primary cardiac tumors and 15 cases were secondary tumors (15/689,2.2%). Amongst the primary cardiac neoplasms, 625 cases were benign(625/674,92.7%), 7 cases were borderline (7/674, 1.0%), and 42 cases were malignant (42/674, 6.2%). The incidences of benign, borderline and malignancy heart tumors among patients below 20 years old were lower than those of patients over 20 years of age (4.8% vs. 95.2%; 3/9 vs. 6/9; 5.5% vs. 94.5%, respectively). Of the benign tumors, 406 cases were female and 219 cases were male. More male than female patients were seen in borderline and malignancy cardiac tumor categories (6∶3; 34∶21). Of 625 benign tumors, 577 cases were myxoma(85.6%), which mainly occurred in patients over 20 years of age(85.9% vs. 14.1%) with a female predominance. Non-myxomas mainly occurred in children and adolescent patients compared to adult (55.6% vs. 44.4%, P<0.01) with a male predominance. Overall, 524 tumors originated from the left atrium, 84 cases from the right atrium, 26 cases from the pericardium, 23 cases from the right ventricular, and 11 cases from the left ventricle. However, 21 cases were multicentric or involving cardiac valves. Benign tumors mainly involved left heart(76.3%) vs. right heart(81/625, 12.6%). The mostly common location of borderline tumors was right heart(5/9). Malignant tumors tended to involve the right heart(22/55,40.0%) and pericardium(18/55, 32.7%).@*Conclusions@#Although the incidence of cardiac neoplasms is low,various tumor types can occur, most of which are myxoma with a female predominance. Non-myxomas mainly occur in children and adolescents with a male predominance.

17.
Chinese Journal of Pathology ; (12): 26-30, 2019.
Article in Chinese | WPRIM | ID: wpr-810361

ABSTRACT

Objective@#To investigate MAML2 gene-translocation in primary pulmonary mucoepidermoid carcinoma (PMEC) and pulmanary adenosquamous carcinoma, and the optimal diagnostic immunohistiochemical (IHC) panel in distinguishing PMEC from adenosqumous carcinoma.@*Methods@#Twenty-four cases of PMEC and 44 adenosqumous carcinoma diagnosed in the Guangdong General Hospital were tested for MAML2 translocation by fluorescent in-situ hybridization (FISH) using tissue array. An IHC panel including TTF1, Napsin A, CK5/6, p63, p40 and Ki-67 was performed on the cohort. The clinical data for all cases were collected and all PMEC patients had follow-up information.@*Results@#The patients′ age ranged form 6 to 73 years, with a median age of 32 years. The male to female ratio was 1.4∶1.0. MAML2 translocation was found in 16/24 (66.7%) cases of PMEC whereas all 44 cases adenosqumous carcinoma were negative for translocation. All the cases of the PMEC were negative for TTF1 and Napsin A but positive for CK5/6, p63 and p40 in the intermediate cells and epidermal-like cells. In most PMEC cases, the Ki-67 expression index was lower than 10%. In contrast, most cases of adenosqumous carcinomas expressed TTF1 and Napsin A in the adenomatous component and CK5/6, p63 and p40 in the squamous component, which expression pattern was different from that of PMEC. Based on IHC staining, 2 cases of highly invasive ALK-positive adenocarcinoma mimicing PMEC were also found in the study.@*Conclusions@#MAML2 gene translocation can be detected in about two-third of PMEC. Translocation of MAML2 gene and lower morphology grading are associated with good prognosis. The combined use of IHC antibodies panel is helpful to distinguish PMEC from the adenosqumous carcinoma and adenocarcinoma mimicing PMEC.

18.
Chinese Journal of Pathology ; (12): 22-25, 2019.
Article in Chinese | WPRIM | ID: wpr-810360

ABSTRACT

Objective@#To investigate the clinicopathological features, treatment and prognosis of duodenal-type follicular lymphoma.@*Methods@#Four cases of duodenal-type follicular lymphoma diagnosed at Guangdong General Hospital from 2014 to 2015 with detailed clinical data were included. The histomorphology, immunophenotype, treatment and prognoses were analyzed.@*Results@#The patients′ age ranged from 51 to 57 years (mean 54 years), and there were 2 males and 2 females. The involved sites were gastric fundus in one case, second portion of the duodenum in two cases and terminal ileum in one case. All patients presented with multiple mucosal granules or nodules at endoscopy. Microscopically, there were multiple mucosal neoplastic follicles, constituting grade 1-2 disease based on nodal follicular lymphoma grading system. The tumor cells were positive for CD20, CD10, bcl-6 and bcl-2. CD21 highlighted the follicular dendritic meshwork mainly at the periphery of the follicles. Proliferation index was low. Three patients received rituximab monotherapy for 4 cycles, leading to complete remission. One patient refused therapy and the disease progressed to systemic lymphoma 15 months after the initial diagnosis.@*Conclusions@#Duodenal-type follicular lymphoma is a special variant of follicular lymphoma with indolent clinical course. The tumor exhibits morphology of low grade follicular lymphoma with characteristic dendritic meshwork at the periphery of the follicles and a low proliferation index. Prognosis is excellent. Rituximab monotherapy is treatment of choice, but a small minority of patients may progress to systemic disease.

19.
Article in Chinese | WPRIM | ID: wpr-775837

ABSTRACT

OBJECTIVE@#To establish a non-invasive method for beta-thalassemia by detecting parental CD41-42 mutation in cell-free DNA derived from maternal plasma with droplet digital PCR (ddPCR).@*METHODS@#Beta-actin gene and beta-thalassemia gene CD41-42 mutation were respectively set as the reference and target sequences. A novel method was established based on Bio-Rad ddPCR technique with specific primers and TaqMan probes for the two genes. The accuracy, sensitivity and detective linearity range of the developed method were evaluated by detection of the target gene gradient concentration samples. The applicability was also evaluated by testing 20 maternal plasma samples.@*RESULTS@#The ddPCR method could accurately detect the beta-thalassemia CD41-42 mutation in cell-free DNA derived from maternal plasma. Within the target sequence concentration ratio of 5.00%-0.50%, the relative errors were all < 0.05, the linear regression equation was Y=1.0101-X-0.0071 and R=0.9994. The results of 20 maternal plasma cell-free DNA samples were all consistent with those of the follow-up testing.@*CONCLUSION@#A ddPCR method for detecting parental CD41-42 mutation in cell-free DNA from maternal plasma was developed. The method is simple, rapid, accurate, and can be applied for non-invasive prenatal diagnosis for couples simultaneously carrying the CD41-42 mutation.


Subject(s)
Cell-Free Nucleic Acids , DNA , Blood , Female , Humans , Mutation , Polymerase Chain Reaction , Pregnancy , Prenatal Diagnosis , Methods , beta-Thalassemia , Diagnosis , Genetics
20.
Article in Chinese | WPRIM | ID: wpr-775824

ABSTRACT

OBJECTIVE@#To determine the incidence and genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Dongguan region of Guangdong Province and assess the efficacy and feasibility of flow-through hybridization.@*METHODS@#Peripheral blood samples were randomly selected and detected by modified G6PD/6PGD ratio method. Flow-through hybridization was used to detect 14 G6PD mutations among all samples.@*RESULTS@#In total 1005 samples were collected, the detection rate for modified G6PD/6PGD ratio method and flow-through hybridization were 2.79% and 20.90%, respectively. The consistency of the two methods was poor(Kappa=0.187). When c.1311C>T mutation is excluded, the consistency of the two methods was good for males (Kappa=0.952) but still poor for females (Kappa=0.194). The most common mutations were c.1376G>T, c.1388G>A and c.95A>G. No G6PD deficiency was found among those only carrying the c.1311C>T mutation.@*CONCLUSION@#Flow-through hybridization can simultaneously detect 14 loci, covering over 90% of common mutations in Chinese population, and can be easily expanded. The routine method may miss many females carrying homozygous, compound heterozygous and heterozygous mutations, but the detection rate for male hemizygous mutation was much higher.


Subject(s)
China , DNA Mutational Analysis , Female , Genetic Testing , Genotype , Glucosephosphate Dehydrogenase , Genetics , Glucosephosphate Dehydrogenase Deficiency , Diagnosis , Humans , Male , Mutation
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