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1.
JOURNAL OF RARE DISEASES ; (4): 79-86, 2024.
Article in English | WPRIM | ID: wpr-1006921

ABSTRACT

Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.

2.
Journal of Xi'an Jiaotong University(Medical Sciences) ; (6): 383-388, 2023.
Article in Chinese | WPRIM | ID: wpr-1005843

ABSTRACT

【Objective】 To screen and verify a peptide ligand specific for CD44v9. 【Methods】 A 12-mer phage peptide library was screened on CD44v9 coated on solid phase. Candidate sequences emerged after sequencing. Candidate phages were selected using enzyme-linked immunosorbent assay. The best sequence was chosen for further study. Binding of C9-3 to CD44v overexpressed HEK-293 cells was determined using immunofluorescence. Binding affinity and specificity were verified on gastric cancer tissues with immunohistochemistry. 【Results】 Phages significantly were enriched during panning process. After sequencing, nine individual sequences occurred in 30 selected clones. Among the 9 candidate sequences, C9-3 exhibited the highest frequency. Results of ELISA showed that C9-3 had the highest OD value and selectivity. Thus, C9-3 was chosen for peptide probe synthesis. C9-3 probe stained CD44v overexpressed HEK-293 cells, but not empty vector transfected HEK-293 cells. Immunohistochemistry scores of C9-3 were significantly different between gastric cancer and paracancer tissues (t=3.953, P<0.01). A linear positive correlation was observed between C9-3 binding and CD44v9 expression (r=0.823, P<0.01). 【Conclusion】 In this study, peptide ligand of CD44v9 was successfully screened. The peptide can bind to cells and cancer tissues via CD44v9. It has potential for gastric targeting probes.

3.
Frontiers of Medicine ; (4): 1236-1249, 2023.
Article in English | WPRIM | ID: wpr-1010816

ABSTRACT

Primary ciliary dyskinesia (PCD) is a highly heterogeneous recessive inherited disorder. FAP54, the homolog of CFAP54 in Chlamydomonas reinhardtii, was previously demonstrated as the C1d projection of the central microtubule apparatus of flagella. A Cfap54 knockout mouse model was then reported to have PCD-relevant phenotypes. Through whole-exome sequencing, compound heterozygous variants c.2649_2657delinC (p. E883Dfs*47) and c.7312_7313insCGCAGGCTGAATTCTTGG (p. T2438delinsTQAEFLA) in a new suspected PCD-relevant gene, CFAP54, were identified in an individual with PCD. Two missense variants, c.4112A>C (p. E1371A) and c.6559C>T (p. P2187S), in CFAP54 were detected in another unrelated patient. In this study, a minigene assay was conducted on the frameshift mutation showing a reduction in mRNA expression. In addition, a CFAP54 in-frame variant knock-in mouse model was established, which recapitulated the typical symptoms of PCD, including hydrocephalus, infertility, and mucus accumulation in nasal sinuses. Correspondingly, two missense variants were deleterious, with a dramatic reduction in mRNA abundance from bronchial tissue and sperm. The identification of PCD-causing variants of CFAP54 in two unrelated patients with PCD for the first time provides strong supportive evidence that CFAP54 is a new PCD-causing gene. This study further helps expand the disease-associated gene spectrum and improve genetic testing for PCD diagnosis in the future.


Subject(s)
Mice , Animals , Humans , Male , Kartagener Syndrome/metabolism , Cilia/metabolism , Semen , Genetic Testing , RNA, Messenger , Mutation
4.
Chinese Journal of Endemiology ; (12): 318-322, 2022.
Article in Chinese | WPRIM | ID: wpr-931544

ABSTRACT

Objective:To investigate the epidemic trend and epidemiological characteristics of human brucellosis in Chengyang District of Qingdao City, and to provide a theoretical reference for formulating scientific prevention and control measures.Methods:The data of confirmed and clinically diagnosed brucellosis cases with current address in Chengyang District of Qingdao City reported by China Disease Control and Prevention Information System from January 2016 to December 2020 were collected, and the epidemic trend, three-dimensional distribution, clinical characteristics, case consultation and disease outcome and epidemiological history of human brucellosis were descriptively analyzed.Results:From 2016 to 2020, 23 cases of human brucellosis were reported in Chengyang District of Qingdao City, with an annual incidence of 0.52/100 000, and the incidence was decreasing year by year (χ 2trend = 7.83, P = 0.005). The onset time was mainly distributed in spring and summer, of which spring (1, 5 and 5 cases respectively from March to May) accounted for 47.83% (11/23), and summer (1, 4 and 1 cases respectively from June to August) accounted for 26.09% (6/23). There were 13 cases of males and 10 cases of females, the ratio of male to female was 1.30 ∶ 1.00; the age of onset was (52.52 ± 14.67) years old, mainly from 40 to 65 years old, accounted for 65.22% (15/23); farmers accounted for 69.57% (16/23). The largest number of reported cases was in Chengyang Street (6 cases), followed by Xiazhuang Street (4 cases) and Liuting Street (4 cases), accounted for 60.87% (14/23). The main clinical manifestations were fever (21 cases, 91.30%), followed by muscle and joint soreness (18 cases, 78.26%), fatigue (18 cases, 78.26%), and hyperhidrosis (15 cases, 65.22%). The median time interval from onset to diagnosis was 27 days, and 82.61% (19/23) of the cases were diagnosed as brucellosis at the acute stage. After follow-up, 21 cases (91.30%) reached the recovery standard, and 2 cases (8.70%) improved. Verified by the epidemiological investigation, 23 cases of human brucellosis had multiple routes of infection. The main mode of infection was direct contact, including feeding suspected sick animals (8 cases, 34.78%), contacting urine, feces and other excrement of suspected sick animals (8 cases, 34.78%), delivering suspected sick animals/disposing the apoblema (5 cases, 21.74%), and slaughtering/contacting raw lamb (4 cases, 17.39%). Conclusions:From 2016 to 2020, the incidence of human brucellosis in Chengyang District of Qingdao City has decreased year by year. It occurs frequently in spring and summer, mainly in middle-aged and elderly male farmers. The main clinical manifestation is fever and there are multiple ways of infection. It is recommended to take multiple measures to strengthen health education, behavioral intervention and regular monitoring.

5.
Frontiers of Medicine ; (4): 150-155, 2022.
Article in English | WPRIM | ID: wpr-929187

ABSTRACT

Cystic fibrosis (CF) is a rare autosomal recessive disease with only one pathogenic gene cystic fibrosis transmembrane conductance regulator (CFTR). To identify the potential pathogenic mutations in a Chinese patient with CF, we conducted Sanger sequencing on the genomic DNA of the patient and his parents and detected all 27 coding exons of CFTR and their flanking intronic regions. The patient is a compound heterozygote of c.2909G > A, p.Gly970Asp in exon 18 and c.1210-3C > G in cis with a poly-T of 5T (T5) sequence, 3 bp upstream in intron 9. The splicing effect of c.1210-3C > G was verified via minigene assay in vitro, indicating that wild-type plasmid containing c.1210-3C together with T7 sequence produced a normal transcript and partial exon 10-skipping-transcript, whereas mutant plasmid containing c.1210-3G in cis with T5 sequence caused almost all mRNA to skip exon 10. Overall, c.1210-3C > G, the newly identified pathogenic mutation in our patient, in combination with T5 sequence in cis, affects the CFTR gene splicing and produces nearly no normal transcript in vitro. Moreover, this patient carries a p.Gly970Asp mutation, thus confirming the high-frequency of this mutation in Chinese patients with CF.


Subject(s)
Humans , China , Cystic Fibrosis/genetics , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Mutation , Poly T , RNA, Messenger/genetics
6.
Chinese Journal of Internal Medicine ; (12): 45-50, 2021.
Article in Chinese | WPRIM | ID: wpr-885143

ABSTRACT

Objective:To determine the clinical features and genetic characters of patients with chronic enteropathy associated SLCO2A1 gene (CEAS). Methods:Five CEAS patients diagnosed at Peking Union Medical College Hospital from January 2012 to December 2019 were enrolled in this study. The clinical manifestations, laboratory test, radiological and endoscopic findings, gene detections, treatments and prognosis of these patients were reviewed and analyzed.Results:Five male patients presented gastrointestinal symptoms after puberty, including abdominal pain, diarrhea, intermittent melena or hematochezia, incomplete bowel obstruction, anemia, hypoalbuminemia and hypokalemia. The whole gastrointestinal tract except esophagus could be involved, especially the stomach and ileum. Intestinal lesions were characterized by multiple shallow ulcers with stenosis in the layers of mucosa and submucosa. Five patients were all accompanied with primary hypertrophic osteoarthropathy (PHO), and 1 with myelofibrosis and thoracic duct dysplasia. All patients were homozygous or compound heterozygous mutations of SLCO2A1 gene. Conventional treatment of inflammatory bowel disease and COX-2 inhibitors were ineffective. Conclusions:CEAS is an autosomal recessive genetic disease which widely involves the gastrointestinal tract, and can be associated with skin and bone involvement. There is no effective treatment for CEAS at present. CEAS is a different entity from other inflammatory gastrointestinal diseases.

7.
China Pharmacy ; (12): 70-76, 2021.
Article in Chinese | WPRIM | ID: wpr-862268

ABSTRACT

OBJECTIVE:To compare the protective effect of atomization inhalation and intraperitoneal injection of edaravone on acute lung injury in smoke inhalation lung injury model rats. METHODS :Thirty male SD rats were divided into normal control group(group A ),injury group (group B ),intraperitoneal injection group (group C ),low-dose aerosol inhalation group (group D),high-dose aerosol inhalation group (group E )according to random numble table ,with 6 rats in each group. Group B-E were placed in smoke generator containing pine sawdust to induce smoke inhalation lung injury model. In group A ,the operation was the same as above except that the pine sawdust was not placed. Thirty minutes after modeling ,group C were injected intraperitoneally with edaravone 18 mg/kg(every 70 min,4 times in total ). Group D and E inhaled edaravone 9,1.8 mg/kg(every 60 min,lasting for 10 min each time ,4 times in total ). The rats were treated by no means in group A and group B. Six hours after last medication,arterial blood gas analysis was performed ,and the lung wet to dry ratio (W/D)and water content of lung tissue were calculated. The levels of TNF-α,IL-6 and IL- 10 in serum were detected by double antibody ELISA. The contents of MDA ,MPO, SOD and Caspase- 3 in lung tissue were determined by ELISA and other methods. HE staining was used to observe the pathological changes of lung tissue. The apoptotic rate of cells in lung tissue were determined by TUNEL assay. RESULTS :No abnormality was found in lung tissue of group A ;in group B ,hemorrhage and edema were found in lung tissue ,alveolar structure was difficult to identify,and inflammatory cells and red blood cell infiltration were seen. Above symptoms of rats in group C-E were improved to different extent. Compared with group A ,PaO2/FiO2 and SOD content of lung tissue were decreased significantly in other groups (P<0.05);water content of lung tissue ,W/D,serum contents of TNF-α,IL-6 and IL- 10,the contents of MDA ,MPO and Caspase-3 in lung tissue ,apoptotic rate were increased significantly (P<0.05). Compared with group B ,PaO2/FiO2 and serum contents of IL- 10 were increased significantly in administration groups (P<0.05);water content of lung tissue ,W/D,serum contents of TNF-α and IL-6,the contents of MDA ,MPO and Caspase- 3 in lung tissue ,apoptotic rate were significantly decreased,in dose-dependent manner (P<0.05). CONCLUSIONS :Edaravone has a certain protective effect on smoke inhalation lung injury model rat. It can reduce the production and release of inflammatory mediators and/or cytokines ,reduce the peroxide damage and inhibit cell apoptosis in a dose-dependent manner. The effect of atomization inhalation is more obvious than that of intraperitoneal injection.

8.
Neuroscience Bulletin ; (6): 15-30, 2021.
Article in Chinese | WPRIM | ID: wpr-952023

ABSTRACT

The massive loss of oligodendrocytes caused by various pathological factors is a basic feature of many demyelinating diseases of the central nervous system (CNS). Based on a variety of studies, it is now well established that impairment of oligodendrocyte precursor cells (OPCs) to differentiate and remyelinate axons is a vital event in the failed treatment of demyelinating diseases. Recent evidence suggests that Foxg1 is essential for the proliferation of certain precursors and inhibits premature neurogenesis during brain development. To date, very little attention has been paid to the role of Foxg1 in the proliferation and differentiation of OPCs in demyelinating diseases of the CNS. Here, for the first time, we examined the effects of Foxg1 on demyelination and remyelination in the brain using a cuprizone (CPZ)-induced mouse model. In this work, 7-week-old Foxg1 conditional knockout and wild-type (WT) mice were fed a diet containing 0.2% CPZ w/w for 5 weeks, after which CPZ was withdrawn to enable remyelination. Our results demonstrated that, compared with WT mice, Foxg1-knockout mice exhibited not only alleviated demyelination but also accelerated remyelination of the demyelinated corpus callosum. Furthermore, we found that Foxg1 knockout decreased the proliferation of OPCs and accelerated their differentiation into mature oligodendrocytes both in vivo and in vitro. Wnt signaling plays a critical role in development and in a variety of diseases. GSK-3β, a key regulatory kinase in the Wnt pathway, regulates the ability of β-catenin to enter nuclei, where it activates the expression of Wnt target genes. We then used SB216763, a selective inhibitor of GSK-3β activity, to further demonstrate the regulatory mechanism by which Foxg1 affects OPCs in vitro. The results showed that SB216763 clearly inhibited the expression of GSK-3β, which abolished the effect of the proliferation and differentiation of OPCs caused by the knockdown of Foxg1. These results suggest that Foxg1 is involved in the proliferation and differentiation of OPCs through the Wnt signaling pathway. The present experimental results are some of the first to suggest that Foxg1 is a new therapeutic target for the treatment of demyelinating diseases of the CNS.

9.
Frontiers of Medicine ; (4): 933-937, 2021.
Article in English | WPRIM | ID: wpr-922509

ABSTRACT

Neurofibromatosis (NF) is a genetic disease in which the lungs are rarely involved. However, in NF cases with lung involvement, chest computed tomography may show bilateral basal reticulations, apical bullae, and cysts without bronchiectasis. Herein, we report a patient diagnosed with NF on the basis of the results of genetic testing who presented with early-onset wet cough and bronchiectasis. Considering the differential diagnosis of bronchiectasis combined with his early-onset wet cough, sinusitis, and sperm quality decline, we considered the possibility of primary ciliary dyskinesia (PCD). Further electron microscopy analysis of cilia and identification of homozygous mutations in the RSPH4A gene confirmed the diagnosis of PCD. Therefore, for patients with NF, when an image change exists in the lungs that does not correspond to NF, the possibility of other diagnoses, including PCD, must be considered.


Subject(s)
Humans , Cilia , Kartagener Syndrome/genetics , Microscopy, Electron , Mutation , Neurofibromatosis 1/genetics
10.
Chinese Journal of Postgraduates of Medicine ; (36): 350-353, 2020.
Article in Chinese | WPRIM | ID: wpr-865504

ABSTRACT

Objective:To research the clinical effect of early comprehensive intervention for physical and intelligence development of premature infant (test-tube baby).Methods:One hundred and eleven premature infant in Dalian Municipal Women and Children′s Medical Center from June 2016 to June 2018 were enrolled. Study group (57 cases) received comprehensive intervention including health education, exercise training, nutrition guidance and rehabilitation therapy, and control group (54 cases) received health education. The weight, height, head circumference and CDCC score of two groups were analyzed in 3, 6 and 12 month.Results:Physical development: the weight [3 month: (4.72 ± 0.19) kg vs. (4.34 ± 0.29) kg; 6 month: (6.49 ± 0.37) kg vs. (6.25 ± 0.41) kg; 12 month: (9.58 ± 1.15) kg vs. (8.76 ± 0.92) kg] and height [3 month: (59.63 ± 5.51) cm vs. (56.29 ± 5.86) cm; 6 month: (65.09 ± 5.94) cm vs. (62.36 ± 6.20) cm] in 3, 6 and 12 month, and head circumference in 3 and 6 month [3 month: (37.71 ± 1.77) cm vs. (35.90 ± 1.48) cm; 6 month: (43.18 ± 1.96) cm vs. (41.82 ± 2.61) cm] of study group were higher than those in control group, and all difference had statistical significant ( P<0.05). Intelligence development: the MDI [3 month: (84.49 ± 9.78) scores vs. (80.58 ± 10.40) scores; 6 month: (89.65 ± 13.21) scores vs. (83.24 ± 17.66) scores; 12 month: (96.03 ± 15.43) scores vs. (89.71 ± 17.85) scores] and PDI score of study group was higher than that in control group in 3, 6 and 12 month [3 month: (82.68 ± 5.35) scores vs. (79.43 ± 7.21) scores; 6 month: (86.34 ± 8.33) scores vs. (82.51 ± 9.67) scores; 12 month: (94.86 ± 10.27) scores vs. (90.32 ± 11.65) scores] ( P<0.05). Conclusions:Early comprehensive intervention has a good clinical efficacy for physical and intelligence development of premature infant (test-tube baby) and is worthy of popularizing and applying.

11.
Frontiers of Medicine ; (4): 305-317, 2020.
Article in English | WPRIM | ID: wpr-827863

ABSTRACT

Familial acne inversa (AI) is an autoinflammatory disorder that affects hair follicles and is caused by loss-of-function mutations in γ-secretase component genes. We and other researchers showed that nicastrin (NCSTN) is the most frequently mutated gene in familial AI. In this study, we generated a keratin 5-Cre-driven epidermis-specific Ncstn conditional knockout mutant in mice. We determined that this mutant recapitulated the major phenotypes of AI, including hyperkeratosis of hair follicles and inflammation. In Ncstn;K5-Cre mice, the IL-36a expression level markedly increased starting from postnatal day 0 (P0), and this increase occurred much earlier than those of TNF-α, IL-23A, IL-1β, and TLR4. RNA-Seq analysis indicated that Sprr2d, a member of the small proline-rich protein 2 family, in the skin tissues of the Ncstn;K5-Cre mice was also upregulated on P0. Quantitative reverse-transcription polymerase chain reaction showed that other Sprr2 genes had a similar expression pattern. Our findings suggested that IL-36a might be a key inflammatory cytokine in the pathophysiology of AI and involved in the malfunction of the skin barrier in the pathogenesis of AI.

12.
Chinese Journal of Digestive Surgery ; (12): 459-465, 2019.
Article in Chinese | WPRIM | ID: wpr-752964

ABSTRACT

Objective To investigate the learning curve of Da Vinci robot-assisted laparoscopic radical gastrectomy for gastric cancer.Methods The retrospective cohort study was conducted.The clinicopathological data of 42 patients who underwent Da Vinci robot-assisted radical gastrectomy for gastric cancer in the First Affiliated Hospital of Xi'an Jiaotong University from October 2017 to August 2018 were collected.There were 30 males and 12 females,aged from 36 to 84 years,with an average age of 59 years.The learning curve was evaluated using the cumulative sum (CUSUM) analysis and the best fitting curve method.According to the minimum number of surgeries required to cross the learning curve,the patients were divided into learning stage group and mastery stage group.Then general data and surgical efficacy of the two groups were compared.Observation indicators:(1) surgical situations;(2) results of CUSUM analysis;(3) comparison of general data between the two groups;(4) comparison of surgical efficacy between the two groups;(5) follow-up.Patients were followed up by outpatient examination or telephone interview to detect the postoperative complications,tumor recurrence and metastasis up to February 2019.Measurement data with normal distribution were presented as Mean±SD,and comparison between groups was done using the independent sample t test.Count data were represented as absolute number,and comparison between groups was analyzed using the chi-square test or Fisher exact propability.Comparison of ordinal data between groups was analyzed using the Mann-Whitney U test.Results (1) Surgical situations:all the 42 patients underwent Da Vinci robot-assisted radical gastrectomy for gastric cancer successfully,without conversion to open surgery or perioperative death.Fourteen out of 42 patients underwent Da Vinci robot-assisted total radical gastrectomy and 28 underwent Da Vinci robot-assisted distal radical gastrectomy.The operation time and docking time were (213±31)minutes and (26± 11)minutes.The operation time and docking time had a tendency to decreasing as the surgical cases increasing.(2) Results of CUSUM analysis.The CUSUM learning curve were best modeled as a polynomial with equation:CUSUM (operation time)=0.016 9X3-1.913 3X2+ 50.985X-16.595,CUSUM (docking time) =0.012 8X3-1.070 7X2 + 22.189X-23.097 respectively (X means the surgical case).The P value of fitting test of models was < 0.05,with goodness-of-fit (R2) as 0.960 and 0.985.The CUSUM learning curve of operation time reached its peak when the number of surgical cases accumulated to the 19th case.Nineteen cases were the minimum number of surgeries required to cross the learning curve.Similarly,The CUSUM learning curve of docking time reached its peak when the number of surgical cases accumulated to the 14th case,and 14 cases were the minimum number of surgeries required to skillfully master robot installation across the learning curve.(3) Comparison of general data between the two groups:patients were divided into learning stage group and mastery stage group with 19 cases as the cut-off point.Males,females,age,body mass index (BMI),cases in grade 1,2,3 of American society of anesthesiologists (ASA),cases with previous abdominal surgery history,cases with basic diseases,cases in T1,T2,T3,T4 stages of preoperative ultrasonic gastroscopic tumor T staging,maximum tumor diameter,cases in Ⅰ,Ⅱ,Ⅲ stages of postoperative clinical staging,cases with total gastrectomy and distal gastrectomy (surgical method) were 14,5,(60± 13)years,(23.7±2.9)kg/m2,1,16,2,3,8,5,3,3,8,(4.1±3.5)cm,6,7,6,10,9 in the learning stage group,and 16,7,(58±10)years,(23.7±1.3)kg/m2,1,17,5,2,14,3,6,9,5,(4.7±2.7)cm,8,9,6,18,5 in the mastery stage group,respectively.There was no significant difference in the sex,age,BMI,ASA score,basic diseases,preoperative ultrasonic gastroscopic tumor T staging,maximum tumor diameter,postoperative clinical staging,and surgical method between the two groups (x2 =0.086,t =0.475,-0.007,Z =-0.884,x2 =1.469,Z =-0.301,t =-0.651,Z =-0.079,-0.236,x2 =3.076,P > 0.05).There was no significant difference in the previous abdominal surgery history between the two groups (P > 0.05).(4) Comparison of surgical efficacy between the two groups:operation time,volume of intraoperative blood loss,number of lymph nodes harvested,time to first liquid food intake,cases with postoperative complications and duration of postoperative hospital stay were (230±25) minutes,(176± 103) mL,21±7,(5.1 ± 2.0) days,2,(9.3± 2.5)days in the learning stage group,and (191±18) minutes,(95±41)mL,21±6,(4.7±1.7)days,3,(8.4± 2.1)days in the mastery stage group,respectively.There were statistically significant differences in the operation time and volume of intraoperative blood loss between the two groups (t =5.951,-3.359,P<0.05).There was no statistically significant difference in number of lymph nodes harvested,time to first liquid food intake,and duration of postoperative hospital stay between the two groups (t =-0.120,0.538,1.303,P>0.05).There was no significant difference in the cases with postoperative complications between the two groups (P>0.05).(5) Follow-up:all the 42 patients were followed up for 6-16 months,with a median time of 11 months.No serious long-term complications,tumor recurrence and metastasis or death occurred during the follow-up.Conclusions The CUSUM learning curve of Da Vinci robot-assisted radical gastrectomy for gastric cancer can be divided into the learning stage and the mastery stage.It is suggested that the surgeons need to finish 19 cases or more to master Da Vinci robot-assisted radical gastrectomy for gastric cancer.

13.
Chinese Journal of Medical Genetics ; (6): 1-8, 2018.
Article in Chinese | WPRIM | ID: wpr-344140

ABSTRACT

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.

14.
Journal of Xi'an Jiaotong University(Medical Sciences) ; (6): 127-130,150, 2017.
Article in Chinese | WPRIM | ID: wpr-606246

ABSTRACT

ABSTRACT:Objective To observe the influence of saikosaponin-d (SSd)on the proliferation and the function of autophagy of human hepatocellular carcinoma (HCC)cell line SMMC-7721 to explore the possible mechanisms. Methods SMMC-7721 was cultured invitro and then treated with SSd of various concentrations (5.0,7.5,10.0, 12.5,15.0 and 17.5 mg/L)for 24,48 and 72 h.We used MTT to detect cell proliferation,selected the optimal concentration and time,and detected the expressions of BECN1 at mRNA and protein levels by PCR and Western blot.Results The inhibition rate of the proliferation of SMMC-7721 cell line increased with the increase of the concentration of SSd,and the highest inhibition rate (60%)appeared when the concentration reached 12.5 mg/L. The expression of BECN1 in the group with SSd was obviously higher than that in the control group (P<0.05). 3-MA decreased not only the expressions of BECN1 at mRNA and protein levels but also the expression of BECN1 when used in conjunction with SSd.Conclusion The inhibiting function of SSd on SMMC-7721 presents a dependency between drug concentration and function time,basically in line with the drug dose-effect relationship. SSd induces the occurrence of autophagic cell death through up-regulating the expression of BECN1 ,thus inhibiting the proliferation of SMMC-7 7 2 1 .

15.
Journal of Modern Laboratory Medicine ; (4): 61-65, 2017.
Article in Chinese | WPRIM | ID: wpr-507196

ABSTRACT

Objective Toexplore expression and clinical significance of WWOX protein and the Bcl-2 protein in the organiza-tion of bronchial lung cancer (primary lung cancer).Methods Chose 76 lung cancer patients with clear pathological diagno-sis who were hospitalized in the Shaanxi Provincial People’s Hospital from 2010 and 2015(including 29 cases of adenocarci-noma,27 cases of squamous cell carcinoma,and 20 cases of small cell carcinoma)and 7 cases of normal lung tissue,8 cases of lung tuberculosis.The expressions of WWOX protein,Bcl-2 protein and more that 5 cm normal lung tissue adjacent to carci-noma were measured by immunohistochemistry SP method.The expression difference between patients and normal control group and the influence of sex,age,pathological type,differentiation degree,clinical stage,lymph node metastasis,smoking index on the expression of WWOX protein and Bcl-2 protein in lung cancer were analyzed.Results ①The positive expres-sion rate of WWOX protein in lung cancer group (35.52%)was significantly lower than that in normal lung tissue (73.33%,P<0.05).The positive expression rate of Bcl-2 protein in lung cancer group (78.06%)was significantly higher than that in control group (23.75%,P<0.05 ).②The positive expression rate of WWOX protein in male patients (21.43%)was significantly lower than that in female patients (52.94%),and the difference was statistically significant (χ2=8.146,P=0.04).The positive expression rate of Bcl-2 protein in male patients (71.43%)was significantly higher than that in female patients (35.29%),the difference was statistically significant (χ2=9.923,P=0.002).③In lung cancer with lymph node metastasis,the positive rate of WWOX protein (17.07%)was significantly lower than that in non-lymph node metastasis (48.57%),and the difference was statistically significant (χ2=8.67,P=0.003).In lung cancer with lymph node metastasis,the positive rate of Bcl-2 protein expression (68.29%)was significantly higher than that in non-lymph node me-tastasis (34.28%),and the difference was statistically significant (χ2=8.758,P=0.003).④The positive rate of expression of WWOX protein in patients whose smoking index≥400 and in patients that<400 was 15.63% and 47.73%,respectively, the differences were significant (χ2=8.48,P=0.003).The positive rate of expression of Bcl-2 protein in patients whose smoking index≥400 and in patients that<400 was 56.25% and 22.73%,respectively,the differences were significant (χ2=8.947,P=0.003).⑤WWOX and Bcl-2 protein expressions had no obvious relationship with ages,pathological type,degree of differentiation and clinical stage.⑥WWOX protein expression had negative correlation with Bcl-2 protein expression in lung cancr tissues.Conclusion WWOX protein expression in lung cancer was lower than that in adjacent normal lung tis-sue,Bcl-2 protein expression in lung cancer tissues was higher than that in adjacent normal lung tissue.WWOX protein ex-pression had negative correlation with Bcl-2 protein expression in lung cancer tissues.

16.
Chinese Journal of Pancreatology ; (6): 88-92, 2017.
Article in Chinese | WPRIM | ID: wpr-608543

ABSTRACT

Objective To analyze the clinical features of recurrent acute pancreatitis (RAP).Methods The clinical data of patients diagnosed as RAP were collected in Changhai Hospital, the Second Military Medical University between January 2016 to July 2016, and chronic pancreatitis(CP) patients and RAP patients to matching, as control group.A prospective cohort study about the clinical features of RAP and CP was set.The survival analysis model was established by Kaplan-Meier′s method, to calculate the cumulative rate of RAP which progressed into CP.Results The morbidity of male patients was 69.0% in the RAP group(n=100) and 60% in the CP group(n=100).The average first onset age of RAP and CP was 38 and 21 years old, respectively;and the teenagers accounted for 12% and 38.6%.The incidence of diabetes was 49.5% and 9%;and the incidence of fatty diarrhea was 46.6% and 19% of the two groups.The cumulative incidence of CP was 2% within 1 year, 4.6% in 3 years, and 12.4% in 5 years.Conclusions Men has higher morbidity in both RAP group and CP group.RAP patients′ first onset age was older than that of CP.Teenagers had a low incidence in RAP group.The risk of diabetes and fatty diarrhea was lower in RAP group than CP group.A certain proportion of RAP patients can progress to CP.

17.
Chinese Journal of Dermatology ; (12): 702-705, 2016.
Article in Chinese | WPRIM | ID: wpr-503739

ABSTRACT

Objective To report a pedigree with X?linked dominant protoporphyria(XLDPP), and to detect 5?aminolevulinic acid synthetase 2(ALAS2)gene mutations in this pedigree. Methods A clinical investigation was performed in a pedigree with XLDPP, and relevant data were collected from family members. A next?generation sequencing method was applied to screen possible mutation sites, and Sanger sequencing was performed to determine pathogenic gene mutations. Dermoscopy was conducted to observe skin lesions in the patients with XLDPP, and the Fotofinder system and very high frequency (VHF) ultrasound system were utilized to assess the severity of photodamage. Liver and gallbladder ultrasonography as well as blood examination were performed for all the family members. Results A deletion mutation, c.1706?1709ΔAGTG, was detected in the ALAS2 gene on the X chromosomes of all the patients in this family, which led to replacement or loss of 19-20 C?terminal residues through transcriptional frameshifting, and eventually caused an increase in ALAS2 activity. In the patients with XLDPP, skin photodamage was relatively severe;protoporphyrin?induced hepatobiliary damage was observed and aggravated with age;anemia and iron deficiency occurred sometimes. Conclusion The deletion mutation c.1706?1709ΔAGTG of the ALAS2 gene may be the underlying cause of XLDPP in this pedigree.

18.
Chinese Journal of Digestive Endoscopy ; (12): 321-325, 2016.
Article in Chinese | WPRIM | ID: wpr-497093

ABSTRACT

Objective To evaluate the safety and effectiveness of a new hemostatic clip with sutures for ESD suspension method in animal models.Methods A total of 20 porcine stomachs were randomly divided into the experimental group (n=10) and the control group (n=10).ESD was done respectively in antrum greater curvature and antrum back wall of porcine stomach in vitro.All procedures were completed by the same endoscopist and nurse.The incidence of perforation,mucosa diameter,total operation time (T),dissection time (T1),the average number of submucosal injection,and one-time complete dissection rate were compared between two groups.Results Procedures were done successfully in antrum of 40 poccine in vitro and all mucosa were dissected completely in one procedure.No perforation occurred.Compared with the control group,the mucosa diameter difference was not statistically significant (P =0.368).The total operating time [(34.70± 1.06) min VS (37.1 0± 2.23) min,P =0.009],dissection time [(31.40± 2.00) min VS (34.80± 2.20) min,P=0.817] and the average number of submucosal injection[(7.60± 1.00) VS (10.60± 1.00),P<0.001] in antral greater curvature ESD of the experimental group were significantly less than those of the control group.As for the antrum back wall,the mucosa diameter difference was not statistically significant.The total operation time [(37.00± 1.25) min VS (39.60± 1.65) min,P<0.001],dissection time[(34.50± 1.35) min VS (37.00± 1.25) min,P<0.001],the average number of submucosal injection [(7.60± 1.27) VS (11.40± 1.00),P<0.001] were also significantly less than those of the control.Conclusion The new hemostatic clip with sutures for suspension can significantly shorten the operation time,reduce the number of submucosal injections and the difficulty in ESD.

19.
Chinese Journal of Tissue Engineering Research ; (53): 5572-5576, 2015.
Article in Chinese | WPRIM | ID: wpr-481680

ABSTRACT

BACKGROUND:How to effectively improve the airway management and improve oxygen supply at the same time through a simple and effective method becomes an operation key for physicians in fiberoptic bronchoscopy. OBJECTIVE:To observe the clinical effect of self-made simple masks in painless fiberoptic bronchoscopy. METHODS:A total of 60 patients receiving painless fiberoptic bronchoscopy, 32 males and 28 females, with a mean age of (57.8±10.9) years were randomized into two groups: test group with self-made simple mask during painless fiberoptic bronchoscopy and control group with laryngeal mask. In the course of examination, the changes of oxygen saturation, mean arterial pressure and heart rate were observed at different time points. And adverse events of both groups were also recorded. RESULTS AND CONCLUSION:Patients from both groups successfuly completed fibre bronchoscopy. The oxygen saturation, mean arterial pressure and heart rate in the two groups were not significantly different (P > 0.05). However, the test group (one case of bucking) was superior to the control group (seven cases of sore throat) in terms of adverse events (P < 0.05). The simple mask can improve the oxygen supply and reduce the adverse events.

20.
Chinese Journal of Gastroenterology ; (12): 493-495, 2015.
Article in Chinese | WPRIM | ID: wpr-476659

ABSTRACT

Background:The pathogenesis of irritable bowel syndrome(IBS)is not fully known,social psychological factor is the important factor of IBS,especially the relationship with anxiety and depression. Aims:To investigate psychological stress factor,anxiety and depression in IBS patients among soldiers in northeast area. Methods:A total of 11 400 soldiers in northeast area were enrolled by multistage,stratified,cluster random sampling method asking to fulfill a questionnaire on IBS. Zung self-rating anxiety scale(SAS)and Zung self-rating depression scale(SDS)were assessed,and the relationship with anxiety,depression and stress was analyzed. Results:The incidence of IBS was 15. 9% . Prevalences of anxiety and depression in IBS group were significantly higher than those in non-IBS group(22. 9% vs. 9. 6% ,26. 6% vs. 12. 4% ,P< 0. 05). Score of SAS and SDS in IBS group were significantly higher than those in non-IBS group(50. 86 ± 7. 27 vs. 36. 54 ± 6. 97,53. 47 ± 7. 86 vs. 38. 25 ± 9. 83,P < 0. 05). Positive correlation was found between score of SAS and SDS and stress factors such as feeling lonely,depression,intensive training,working pressure,poor relationship with colleagues,solving emergency event or participating in military exercises in IBS group(P < 0. 05). Conclusions:IBS in soldiers is related with stress and psychological factors.

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