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1.
Chinese Journal of Medical Genetics ; (6): 364-367, 2023.
Artigo em Chinês | WPRIM | ID: wpr-970934

RESUMO

OBJECTIVE@#To explore the clinical and molecular characteristics of a child with Congenital disorders of glycosylation (CDG).@*METHODS@#A 4-month-old boy who had presented at the Children's Hospital Affiliated to Zhejiang University Medical School on December 31, 2019 due to feeding difficulties after birth was selected as the study subject. High-throughput sequencing was carried out for the patient, and real-time qPCR was used for validating the suspected deletion fragments and the carrier status of other members of his family.@*RESULTS@#High-throughput sequencing revealed that the child had lost the capture signal for chrX: 153 045 645-153 095 809 (approximately 50 kb), which has involved 4 OMIM genes including SRPK3, IDH3G, SSR4 and PDZD4. qPCR verified that the copy number in this region was zero, while that of his elder brother and parents was all normal.@*CONCLUSION@#The deletion of the fragment containing the SSR4 gene in the Xq28 region probably underlay the SSR4-CDG in this child.


Assuntos
Idoso , Criança , Humanos , Lactente , Masculino , Deleção de Genes , Glicosilação , Sequenciamento de Nucleotídeos em Larga Escala , Proteínas de Neoplasias , Pais , Irmãos
2.
Chinese Journal of Medical Genetics ; (6): 322-327, 2023.
Artigo em Chinês | WPRIM | ID: wpr-970926

RESUMO

OBJECTIVE@#To explore the clinical manifestations and genetic characteristics of patients with congenital central hypothyroidism due to variants of IGSF1 gene.@*METHODS@#Clinical data, results of genetic testing, and follow-up of four patients admitted to Children's Hospital of Soochow University during 2017 to 2021 were retrospectively analyzed.@*RESULTS@#All of the four patients were males. Patient 1 had presented neonatal jaundice, patients 2 and 3 were admitted for growth retardation during childhood, and thyroid function test indicated slightly low free thyroxine (FT4), patient 4 was found to have reduced FT4 in the neonatal period. Genetic testing revealed that all of the four patients have harbored pathogenic variants of the IGSF1 gene, which were all inherited from their mothers. The thyroid functions in all patients were well controlled with oral levothyroxine and regular follow-up.@*CONCLUSION@#Pathogenic variants of the IGSF1 gene probably underlay the congenital central hypothyroidism with a variety of clinical manifestations, and genetic testing can facilitate the diagnosis at an early stage.


Assuntos
Criança , Masculino , Recém-Nascido , Feminino , Humanos , Estudos Retrospectivos , Hipotireoidismo/genética , Testes Genéticos , Mães , Imunoglobulinas/genética , Proteínas de Membrana/genética
3.
Chinese Journal of Endocrinology and Metabolism ; (12): 1090-1094, 2022.
Artigo em Chinês | WPRIM | ID: wpr-994288

RESUMO

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS) is one of the most common inherited mitochondrial diseases. This paper reports a rare mutation associated with MELAS syndrome, the m. 3252 A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNALeu(UUR). The 6-year-old girl suffered from recurrent convulsion and lactic acidemia. The mtDNA sequencing detected a variant m. 3252A>G(MT-TL1 gene) in the proband and her maternal relatives. The heteroplasmic levels in peripheral blood and urine sediment were 66.53% and 97.42%, respectively, which were obviously higher than those of her maternal relatives. Together with 3 previously reported cases, the variant m. 3252A>G could be classified pathogenic. All the reported pathogenic variants in MT-TL1 gene were reviewed to explore the genotype-phenotype correlations of pathogenic variants in MT-TL1 gene.

4.
Chinese Journal of Medical Education Research ; (12): 368-372, 2022.
Artigo em Chinês | WPRIM | ID: wpr-931403

RESUMO

Objective:To evaluate the teaching effectiveness of independent experimental design from students' active learning behavior, and further provide the basis for advancing the reform of functional experimental teaching and teaching quality.Methods:In June 2019, 186 undergraduates (5-year-programme and 8-year-programme) of Xiangya School of Medicine were included in the teaching research. Self-administered questionnaires were applied to characterize students' active learning behavior in independent experimental design education. Spearman rank correlation analysis and Logistic regression analysis were used in the study. SPSS 23.0 was used for descriptive analysis of the data.Results:During the independent experimental design, 85.0%(158/186) of the students thought it was necessary and important to conduct independent experimental design education; 72.6%(135/186) of the students tentatively raised new scientific questions; 97.8%(182/186) of the students actively searched literature; 77.4%(144/186) of the students participated in reply positively. The value of correlation coefficient of actively learning behavior "tentatively raising new science questions" and teaching effectiveness "improving the ability of scientific thinking" was 0.81. And only 42.5%(79/186) of the students agreed that students needed to summarize after reporting.Conclusion:Independent experimental design education is welcomed and widely accepted by students, which has effectively improved the capacity for scientific research and innovation spirit of students. Whether students' active learning behavior can be fully mobilized in the education practice is closely related to the teaching effect. And the cultivation of leadership and leading consciousness still need to be improved.

5.
Chinese Journal of Applied Clinical Pediatrics ; (24): 94-99, 2021.
Artigo em Chinês | WPRIM | ID: wpr-882762

RESUMO

Objective:To investigate the value of serum insulin-like growth factor-1 (IGF-1), dehydroepiandrosterone sulphate (DHEAS), anti-Müllerian hormone (AMH) and bone morphogenetic protein 6 (BMP-6) in prediction of rapidly progressive puberty(RPP) in girls.Methods:The data of 750 girls who visited the Department of Endocrinology, Metabolism and Genetic Disorders, Children′s Hospital of Soochow University from August 2017 to October 2018 because of breast development were retrospectively analyzed.After following up these girls for 6 months to 1 year, those who were lost to follow up, received early treatment and failed to meet the inclusion criteria were excluded.The remaining 138 girls were divided into the central precocious puberty group (CPP, 32 cases), the early puberty with RPP group (EP-RPP, 33 cases), the early puberty with slow progression puberty group (EP-SPP, 32 cases) and RPP group (41 cases) according to the inclusion criteria.The healthy control group consisted of 33 undeveloped girls aged 8 to 9 who underwent physical examination in the same hospital over the same period.The serum concentrations of IGF-1, DHEAS, AMH and BMP-6 were measured.The general information, clinical manifestations, laboratory examination results and radiological features were compared among different groups.Statistical analysis was performed by using SPSS 22.0, and the receiver operating characteristic curve (ROC) was drawn to investigate the value of IGF-1, DHEAS, AMH and BMP-6 in prediction of RPP.Results:(1)The serum follicle stimulating hormone(FSH) peak value was 15.10(13.86-19.80) IU/L in the EP-SPP group, 11.99(9.18-16.16) IU/L in the EP-RPP group and 11.43(9.37-15.63) IU/L in the RPP group.The ratio of serum FSH/luteinizing hormone(LH) peak values was 3.20(2.44-4.58) in the EP-SPP group, 1.86(1.05-3.16) in the EP-RPP group and 0.76(0.49-0.99) in the RPP group.The serum FSH peak value and the ratio of serum FSH/LH peak values in the EP-SPP group were significant higher than those in the EP-RPP group(all P<0.05). There was no significant difference in the serum FSH peak value between the EP-RPP group and the RPP group( P>0.05). (2)The serum IGF-1 levels of the healthy control group, EP-SPP group, EP-RPP group, CPP group and RPP group were 166.00(126.50-188.00) μg/L, 199.00(170.50-262.50) μg/L, 252.00(233.00-291.50) μg/L, 288.00(252.00-376.00) μg/L and 382.00(264.0-499.50) μg/L, respectively.The serum IGF-1 levels of the EP-SPP group, EP-RPP group, CPP group and RPP group were all significantly higher than those in the healthy control group (all P<0.05). The serum IGF-1 levels in the EP-RPP group were higher than those in the EP-SPP group( P<0.01). As the puberty rapidly progressed, the serum IGF-1 levels gradually increased.The RPP group had the highest IGF-1 levels, and the difference in IGF-1 levels between the RPP group and EP-RPP group was statistically significant( P<0.01). (3)The serum DHEAS levels were 41.65(14.80-59.88) μg/L in the healthy control group, 42.50(30.15-79.83) μg/L in the EP-SPP group, 52.32(43.08-98.54) μg/L in the CPP group, 63.30(34.00-81.55) μg/L in the EP-RPP group and 70.89(51.85-100.02) μg/L in the RPP group.The DHEAS levels of the healthy control group, EP-RPP group and RPP group gradually increased.The RPP group had the highest DHEAS levels.There was significant difference in DHEAS levels among the healthy control group, EP-RPP group and RPP group ( P<0.05). There was no significant difference in DHEAS levels among the EP-SPP group, CPP group and EP-RPP group( P>0.05). (4)The serum AMH and BMP-6 levels in the EP-RPP group, EP-SPP group, RPP group, CPP group and healthy control group were not significantly different( P>0.05). (5)The area under the ROC curve of serum IGF-1 levels was 0.765, the cut-off value was 232.5 μg/L, the specificity for the cut-off value was 83.30%, and the sensitivity was 75.00%.The combined area under the ROC curve of the serum FSH peak value and the ratio of serum FSH/LH peak values was 0.795. Conclusions:Serum IGF-1 levels and the combination of the serum FSH peak value and the ratio of serum FSH/LH peak values can be used as effective indicators of slowly and rapidly progressive puberty in early adolescent girls.Serum DHEAS cannot be used as an early warning index of RPP, but it plays a critical role in the regulation of puberty initiation and process.Serum DHEAS levels may be related to the Tanner stage.

6.
Chinese Journal of Medical Genetics ; (6): 942-946, 2021.
Artigo em Chinês | WPRIM | ID: wpr-921972

RESUMO

OBJECTIVE@#To analyze the clinical and genetic characteristics of five Chinese pedigrees affected with short stature.@*METHODS@#A retrospective analysis was carried out for the clinical data and results of genetic testing for the probands. A literature search was also conducted.@*RESULTS@#The five probands have all featured short stature with a family history. Genetic testing has revealed that they have harbored variants of the ACAN gene, including p.Val2042Argfs*6, p.Val1597del, c.630-1G>A, c.23delT and c.2026+1G>A(previously reported).@*CONCLUSION@#Except for short stature, children harboring heterozygous variants of the ACAN gene may have no involvement of other systems. Some of these children may response to short-term growth hormone treatment.


Assuntos
Criança , Humanos , Agrecanas/genética , Estatura/genética , China , Testes Genéticos , Linhagem , Estudos Retrospectivos
7.
Chinese Journal of Endocrinology and Metabolism ; (12): 593-597, 2020.
Artigo em Chinês | WPRIM | ID: wpr-870074

RESUMO

Objective:To investigate the clinical and genetic characteristics of a boy with Ulnar-Mammary syndrome(UMS), and to review the literature.Methods:The clinical and genetic data of a boy with UMS, who was admitted to the Department of Endocrinology, Genetics and Metabolism, Children′s Hospital of Soochow University in May 2018 were analyzed. Original papers on UMS published up to July 2019 were retrieved.Results:A male patient at the age of 12 years and 8 months visited us for growth retardation. He presented with high forehead, epicanthic folds, broad nasal tip, anteverted nostrils, high palate, dental crowding, mammary gland hypoplasia, and absence of axillary hairs, with height 148.9 cm(<-1 SD). Growth hormone stimulation test indicated growth hormone deficiency(growth hormone peak <5 ng/ml). After one year of treatment with recombinant human growth hormone, his height was improved. Gene sequencing identified a de novo heterozygous mutation of TBX3 c. 711DelC(p.N238Mfs* 4). According to ACMG guidelines in 2015, the mutation is pathogenic and has not been reported in the above databases.However, this mutation was not detected in his parents.Conclusion:UMS should be considered in dwarfism with special face, dysplasia of external genitalia, sweat glands, and mammary glands, and TBX3 is a pathogenic gene.

8.
Chinese Journal of Radiology ; (12): 385-388, 2019.
Artigo em Chinês | WPRIM | ID: wpr-754935

RESUMO

Objective To investigate the effectiveness and safety of esophageal covered stent for the treatment of esophagogastric cervical anastomotic fistula. Methods Retrospective analysis of clinical and imaging data of patients with esophageal and gastric anastomotic neck fistula treated by esophageal membrane stent implantation in the Affiliated Tumor Hospital of Zhengzhou University from July 2015 to June 2018. Twenty‐one cases, 15 males and 6 females were enrolled. All patients showed fistula after esophagogastrostomy for esophageal carcinoma. All the fistulas were located in the cervical segment of esophagus and were diagnosed as anastomotic fistula 2 to 13 days after surgery. The length of esophagus residue, the position and size of the fistula were measured by esophagography. We retrospectively analyzed the data of patients with cervical anastomotic fistula treated with esophageal covered stent. Patients were followed up for more than 6 months by review and telephone follow‐up. Results In the 21 patients, 19 (90.5%) were successfully implanted stents at one time, and 2 (9.5%) were placed at a lower position. The esophageal stent was implanted for 10 to 60 days (31±19) days, and the stent was successfully removed after the fistula healed, with a procedure time of 6 to 23 minutes. No recurrence of fistula was found during follow‐up. Four patients had anastomotic scar stenosis, and eating smoothly after balloon dilatation. Conclusion Esophageal covered stent implantation is a safe and effective technique for gastroesophageal cervical anastomotic fistula.

9.
Chinese Journal of Pediatrics ; (12): 953-956, 2017.
Artigo em Chinês | WPRIM | ID: wpr-810914

RESUMO

Objective@#To analyze the clinical characteristics of children with two types of thyroid hormone resistance (RTH) syndrome, and to detect the variants of thyroid hormone receptor alpha(TRα) and TRβ gene in children.@*Method@#Two children with RTH were reported in regard to clinical manifestation, laboratory examination and genetic variants. Some related reports in literature were reviewed.@*Result@#Case 1 was a girl, 10 years old, with thyroid enlargement for several days and without thyrotoxicosis. Laboratory work-up revealed that free thyroxine (FT4) was 65.77 pmol/L (reference 12-22) , free triiodothyronine (FT3) was 15.36 pmol/L (reference 3.1-6.8) and thyroid stimulating hormone (TSH) level was normal. There was a likely pathogenic missense variant detected in TRβ gene and this patient was diagnosed with RTHβ. Case 2 was a boy, 3 years old, with classic features of hypothyroidism(growth retardation, developmental retardation, skeletal dysplasia) but had only borderline-abnormal thyroid hormone levels. Targeted sequencing showed a de novo heterozygous nonsense variant in TRα gene which is a pathogenic variant and this patient been diagnosed with RTHα.@*Conclusion@#Thyroid enlargement is a common clinical manifestation of RTHβ, with laboratory work-up reveals elevated FT4 and FT3 levels but TSH level is normal. The clinical manifestations of RTHα are similar to those of hypothyroidism, but the thyroid hormone levels are almost normal. The gene sequence and the pathogenicity analysis for TRα and TRβ will help to make a definitive diagnosis.

10.
Chinese Journal of Geriatrics ; (12): 627-631, 2017.
Artigo em Chinês | WPRIM | ID: wpr-619899

RESUMO

Objective To investigate the characteristics of falls as an adverse event in the hospitalization of elderly patients taking sedatives and hypnotics drugs.Methods Data of elderly patients treated in Department of General Internal Medicine,Beijing Chaoyang Hospital from July 2011 to July 2015 were collected.All patients were divided into medicine-taking group and non-medicinetaking group according to the history of taking sedatives and hypnotics during the hospital stay.Different characteristics of fall as an adverse event were compared between the two groups,and fall related nursing interventions were presented.Results A total of 3 834 patients were collected for analysis in this study.Of these patients,the fall as an adverse event occurred in 12 cases,the total incidence was 3.1%,in whom 8/638 (12.5%) in medicine-taking group and 4/3196 (1.3%) in nonmedicine-taking group(x2=21.72,P<0.01).Of 8 cases with the fall as an adverse event in medicinetaking group,the fall occurred in 6 cases(75%)during 24 ∶ 00-6 ∶ 00.However,of 4 cases with the falls in non-medicine-taking group,the fall in 3 cases(75 %)occurred during 6 ∶ 00-18 ∶ 00.In medicinetaking group,the fall occurred beside their beds in 62.5 % (5 cases).And in 37.5 % (3 cases)did in their bathrooms.In non-medicine-taking group,the fall occurred in 2 cases (50.0%) beside their beds,in 1 case did in the bathroom,1 case did in the passage.Multiple Logistic regression analysis showed that age > 75 years(OR=1.26,95 %CI:1.07-1.48),elevated nutritional risk score(NRS-2002 ≥3 scores) (OR=10.92,95%CI:1.79-66.46)and elevated risk for fall or out of bed(risk score ≥18 scores) (OR =19.08,95% CI:4.02-90.47)were the independent risk factors for falls as an adverse event among medicine-taking group.Conclusions A use of sedatives and hypnotics is related with the increase of fall as an adverse event in elderly patients during a hospital stay.With the aim of preventing or reducing the incidence of fall as an adverse event,nursing interventions should be carried out based on the characteristics of fall as an adverse event in elderly patients taking sedatives and hypnotics.

11.
Chinese Journal of Radiology ; (12): 518-521, 2016.
Artigo em Chinês | WPRIM | ID: wpr-493413

RESUMO

Objective To compare the diagnostic value of DWI and ultrasound elastography(UE) in staging hepatic fibrosis in patients with chronic viral hepatitis B(CHB). Methods Fifteen healthy volunteers (control group) and 69 patients with CHB (disease duration more than 1 year) (patient group) were prospectively recruited. All of the subjects underwent DWI and UE experiments twice with the interval of less than 3 days. Liver ADC and shear wave velocity(SWV) values were obtained for subsequent analysis. Sixty?nine patients who had biopsy were grouped according to their pathological grading of fibrosis, from S0 to S4. One?way ANOVA was used to compare the ADC and SWV values between the five different fibrosis groups and control group. Spearman correlation analysis was used to analyze the correlations between the ADC and SWV values and those staging factors. Finally, receiver operating characteristic (ROC) curve analysis was performed to compare the diagnostic performance of ADC and SWV values in discriminating different stages of hepatic fibrosis. Results Based on the pathological results, the 69 patients were reclassified to five subgroups with 11, 13, 12, 15 and 18 patients in the S0, S1, S2, S3 and S4 groups respectively. ADC values were(1.39±0.09)×10-3,(1.39±0.08)×10-3,(1.38±0.10)×10-3,(1.20±0.06)×10-3,(1.12±0.07)×10-3 and(1.01±0.07)×10-3mm2/s for the control group and stages S0 to S4 respectively.SWV values were(1.17±0.07),(1.16±0.08),(1.23±0.10),(1.48±0.14),(1.85±0.14)and(1.97±0.12)m/s for stages S0 to S4 and the control group respectively. Statistically significant differences were observed among them (P<0.01). Both ADC (r=-0.894,P<0.01) and SWV (r=0.904,P<0.01) values were highly correlated with the stages of liver fibrosis. The area under ROC(AUC) for predicting fibrosis stages (≥S1, ≥S2, ≥S3 and S4) with ADC values was 0.893, 0.991, 0.966 and 0.952 respectively. Accordingly, the AUC for SWV values were 0.937, 0.993, 0.994 and 0.914. Conclusions The two imaging methods of DWI and UE showed good and similar diagnostic performance in discriminating the different stages of hepatic fibrosis.

12.
Chinese Journal of Clinical Oncology ; (24): 81-85, 2016.
Artigo em Chinês | WPRIM | ID: wpr-491806

RESUMO

Objective:To observe the locoregional recurrence and survival of stageⅢA-N2 non-small cell lung cancer (NSCLC) after in-duction chemotherapy and surgery, to analyze the prognosis influenced by nodal downstaging, and to explore the necessity for postop-erative radiotherapy. Methods:A total of 116 cases of stageⅢA-N2 NSCLC were treated with induction chemotherapy and surgery be-tween January 2009 and June 2014. These cases underwent R0 resection. Kaplan-Meier method was employed to calculate the local recurrence-free survival (LRFS), distant metastasis-free survival (DMFS), and overall survival (OS) of the patients. Log-rank test was con-ducted to compare the differences between groups. Cox models were used to perform multivariate analysis. Results:The median fol-low-up of the patients was 24.42 months. The numbers of patients with pN0, pN1, and pN2 were 40 (34.5%), 16 (13.8%), and 60 (51.7%), respectively. The 3-year local recurrence rates of patients with pN0, pN1, and pN2 were 27.5%, 56.2%, and 51.7%, respectively. In the group treated with adjuvant chemotherapy, the 3-year local-recurrence rates of patients with pN0, pN1, and pN2 were 26.9%, 58.3%, and 46.2%, respectively. Multivariate analysis revealed that the significant predictor of LRFS was pN0 during the surgery. The LRFS of patients with pN0 was greater than that of the patients with pN1 (P=0.048). The LRFS of patients with pN1 was not significantly associated with that of patients with pN2 (P=0.314). The 5-year OS rate of the groups was 46.6%. The multivariate analysis also demon-strated that pT1, pN0-1, and induction chemotherapy effects were associated with OS. The patients with pN2 yielded a poorer OS than those with pN0 and pN1 (P<0.05). The patients with pN0 did not significantly differ from those with pN1 in terms of OS (P=0.412). Conclu-sion:Although the occurrence of pathologic downstaging is a well-known positive prognostic indicator after stageⅢ-N2 NSCLC is sub-jected to chemotherapy, the local-recurrence rate of nodal-downstaged patients remains high, even when they receive adjuvant che-motherapy. Therefore, new postoperative strategies after induction chemotherapy and surgery should be developed.

13.
Chinese Journal of Applied Clinical Pediatrics ; (24): 120-123, 2016.
Artigo em Chinês | WPRIM | ID: wpr-491676

RESUMO

Objective To explore the effect of neonatal exposure to different doses of Bisphenol A (BPA)on the hypothalamic -pituitary -testis axis in toddler and adolescent male rats.Methods Neonatal male Sprague -Daw-ley rats were randomly divided into 5 groups through random digital table method:control group,vehicle group,low -dose BPA [25 μg/(kg · d)]group,medium -dose BPA [50 μg/(kg · d)]group and high -dose BPA [250μg/(kg·d)]group.The rats were subcutaneously injected with respective agents on postnatal days 1 -7 (PND 1 -7).Pups were sacrificed on PND 22 and PND 50.The hypothalamus and testis were taken and weighed.The hypotha-lamic Kiss -1 mRNA and the testis androgen receptor (AR)mRNA were tested by using real -time fluorescence quan-titative and the levels of serum luteinizing hormone (LH),follicle stimulating hormone (FSH),testosterone (T)were tested by using radio immunity method,and inhibin B was measured by using enzyme linked immunosorbent assay. Results Compared with the controls,the level of serum FSH [(1 .610 0 ±0.693 2)IU /L,(1 .574 3 ±0.675 0)IU /L vs (2.362 9 ±0.580 3)IU /L](F =3.314,P =0.026),LH [(3.876 3 ±0.908 0)IU /L,(3.603 8 ±1 .350 2)IU /L vs (5.302 5 ±0.768 4)IU /L](F =3.1 39,P =0.027)and T [(0.383 8 ±0.1 77 8)μg/L,(0.442 5 ±0.21 4 1 )μg/L vs (0.782 5 ±0.282 1 )μg/L](F =5.1 06,P <0.01 )of medium and high -dose BPA groups,were decreased in PND 22,and the organ coefficient of testis [(0.952 90 ±0.049 1 5)%,(0.969 20 ±0.045 82)% vs (1 .022 80 ± 0.01 1 08)%](F =1 0.326,P <0.01 )and serum T [(1 .758 6 ±0.369 6)μg/L,(1 .71 8 8 ±0.395 7)μg/L vs (3.357 5 ±0.749 8)μg/L](F =1 3.799,P =0.01 2)were significantly decreased in PND 50.In high -dose BPA group of PND 22,the expression of hypothalamic Kiss -1 mRNA (0.068 80 ±0.01 1 79)was increased compared with the other groups (F =272.1 25,P <0.01 ),while in PND 50,compared with control group,the Kiss -1 mRNA (0.002 00 ±0.000 25,0.001 90 ±0.000 48 vs 0.001 40 ±0.000 1 7)of medium -and high -dose BPA groups was decreased(F =1 91 .826,P <0.01 ).Conclusions Neonatal exposure to the medium and high -dose BPA may impair the function of testis in toddler and adolescent male rats,and affect the hypothalamus -pituitary -testis axis.Neonatal exposure to the low -dose BPA does not have a significant influence on the hypothalamus -pituitary -testis axis.

14.
Chinese Journal of Clinical Oncology ; (24): 830-833, 2016.
Artigo em Chinês | WPRIM | ID: wpr-502872

RESUMO

Cytotoxic substances and ionizing radiation can easily induce DNA damage, and double strand breaks (DSBs) are the main form of DNA damage. DNA damage can activate intracellular DNA damage responses and further induce related biological effects, such as DNA damage repair and cell cycle arrest. Homologous recombination (HR) is the primary DSB repair mechanism in eukaryotes. Abnormal expression of Rad51C, which is a key factor in the HR pathway, may result in DNA repair disorder, genomic instability, and eventually lead to tumor formation. In recent studies, researchers considered Rad51C as a potential target for cancer treatment. We reviewed the research progress on Rad51C in DNA damage repair and radiotherapy.

15.
Chinese Journal of Radiation Oncology ; (6): 50-53, 2016.
Artigo em Chinês | WPRIM | ID: wpr-490356

RESUMO

Objective To evaluated the role of postoperative radiotherapy (PR) after surgery in patients with uterine sarcoma,and analyzed the prognostic factors.Methods A total of 182 patients with uterine sarcoma were included between June 1994 and October 2014.Radiotherapy dose were 30-50 Gy/10-25 fractions/5 fractions/week.The LRFFS and OS were calculated with Kaplan-Meier method,and difference was analyzed with log-rank method.Cox regression analyses were used to determine prognosticators.Results There were 114 patients which survived more than 5-years in this whole group,including PR 24 cases and no PR 90 cases.The 5-year LRRFS and OS were 62.1% and 56.2%,respectively.The 5-year LRRFS were 78.0% and 55.3% on PR and no PR (P=0.013);with OS 64.1% and 51.7% on PR and no PR (P=0.070).A multivariate analysis showed that pathological types,histological grade and clinical stage were associated with LRRFS and OS (P=0.032,0.008,0.000 and 0.046,0.000,0.000).PR was significant influencing factor for OS (P=0.013).Conclusions Uterine sarcoma patients treated with PR after surgery had an improved LRRFS compared to those treated with surgery,especially those with leiomyosarcoma.The role of PR personalized radiation for uterine sarcoma still needs to be further discussed.

16.
Chinese Journal of Practical Nursing ; (36): 816-818, 2015.
Artigo em Chinês | WPRIM | ID: wpr-470054

RESUMO

Objective To summarize the care measures of the cryosurgical treatment of primary liver cancer,and provide a theoretical basis for clinical treatment and care.Methods A retrospective analysis of 196 cases of primary liver cancer admitted in our hospital from August 2011 to October 2014 including clinical manifestation of adverse reactions and corresponding nursing care was made.Results Postoperative complications of the patients were rectified,and primary symptoms were also relieved.Conclusions Effective nurse care could reduce the incidence of postoperative complications of cryosurgical treatment for primary liver cancer patients,and improve patients' recovery.

17.
Chinese Journal of Pathophysiology ; (12): 1510-1515, 2015.
Artigo em Chinês | WPRIM | ID: wpr-477350

RESUMO

[ABSTRACT]AIM:Tostudytheeffectsofbaicalin(BC)onglialfibrillaryacidicprotein(GFAP)andnuclear factor-κB ( NF-κB) expression and neuronal apoptosis in juvenile rat hippocampus after status convulsion ( SC) .METH-ODS:One hundred and ninety five juvenile male Sprague-Dawley rats were randomly divided into 3 groups:normal saline pretreatment group (NS group), SC group and SC with BC pretreatment group (BC group).Each of these 3 groups would be subdivided into 5 subgroups sacrificed at 4 h, 12 h, 24 h, 48 h and 72 h after SC.The rat SC model was prepared by lithium-pilocarpine chemical method .The protein expression of GFAP and NF-κB was detected by the method of immuno-histochemistry .The mRNA expression of GFAP was detected by RT-PCR.The neuronal apoptosis was observed by TdT-mediated dUTP nick end labeling ( TUNEL ) .RESULTS: Compared with NS group , the GFAP positive cells was in-creased in SC group (P<0.05).Compared with SC group, the expression of GFAP was significantly reduced in BC group (P<0.05).Compared with NS group, the NF-κB positive cells was increased in SC group (P<0.05).Compared with SC group, the expression of NF-κB was significantly reduced in BC group .RT-PCR showed that the expression trend of GFAP mRNA was similar to that of the protein .Compared with NS group , the TUNEL positive cells in the hippocampus CA1 area in SC group increased significantly 12 h after SC (P<0.01), and reached a peak at 48 h.After the intervention with BC, the TUNEL positive cells decreased significantly between 12~48 h after SC (P<0.05 or P<0.01), but the number of TUNEL positive cells remained significantly greater than that in NS group (P<0.05).CONCLUSION: The expression of GFAP and NF-κB in the hippocampus increased after SC in rats .Baicalin decreases the expression of GFAP and NF-κB in hippocampus of rats with pilocarpine-induced seizures , and reduces the number of neuronal apoptosis , sug-gesting that baicalin may protect against the brain damage caused by status convulsion .

18.
Chinese Journal of Radiation Oncology ; (6): 488-492, 2015.
Artigo em Chinês | WPRIM | ID: wpr-476513

RESUMO

Objective To evaluate the correlation of different fractionation schedules in radiotherapy with the local control ( LC) and overall survival ( OS) rates in patients with extensive?stage small cell lung cancer ( ES?SCLC ) , and to figure out the relationship between different fractionation schedules in radiotherapy and the prognosis of ES?SCLC. Methods One hundred and ten patients newly diagnosed with ES?SCLC from February 2010 to March 2015 received chemoradiotherapy. According to the radiation dose, all patients were divided into hypo?fractionation group ( 30?45 Gy/3 Gy/10?15 f, n=31) and conventional fractionation group ( 54?60 Gy/1?8?2?0 Gy/27?30 f, n=79) . In all patients, 90?9% had stageⅣSCLC;21 patients had brain metastasis;39 patients were treated with prophylactic cranial irradiation ( PCI ) . The Kaplan?Meier method was used to calculate the survival time and log?rank test was used for between?group comparison. Between?group comparison of categorical data was made by χ2 test. Results The number of patients followed?up were 85 at 2?years. In all patients, the 2?year OS, progression?free survival ( PFS) , and LC rates were 27?7%, 17?5%, and 38?9%, respectively. The hypo?fractionation group had similar prognosis to the conventional fractionation group. There were no significant differences in the 2?year OS, PFS, and LC rates between the two groups ( 35% vs. 26%, P=0?886;18% vs. 16%, P=0?560;67% vs. 36%, P=0?159) . There was also no significant difference in the 2?year OS rate between patients treated with and without PCI (44% vs. 18%, P=0?044). In 84 patients with treatment failure, 11 had local recurrence, 41 had distant metastasis, and 32 had local recurrence plus distant metastasis. Conclusions The hypofractionated radiotherapy has similar efficacy but substantially shortened radiation time compared with conventionally fractionated radiotherapy. The palliative hypofractionated radiotherapy requires further study for ES?SCLC.

19.
Journal of Clinical Pediatrics ; (12): 155-159, 2015.
Artigo em Chinês | WPRIM | ID: wpr-462207

RESUMO

Objective To study the relationship between bisphenol A and precocious puberty in 6-8 years girls. Meth-ods Atotal of 103 girls aged 6-8 years with precocious puberty in our Endocrine clinic from August to December 2012 were se-lected. According to the classiifcation standard of precocious puberty, girls are divided into idiopathic central precocious puberty (ICPP) group (n=47) and permature thelarche (PT) group (n=56), 53 girls with no puberty development were chosen as control group. BPA concentrations were determined with HPLC-MS-MS, sex hormones were determined with chemiluminescence meth-od and Kisspeptin concentrations were determined with ELISA, then the differences among the three groups were compared and the relationships between bisphenol A and sex hormones and Kisspeptin were analyzed. Results The BPA relevance ratio and concentration in ICPP group were higher than those of PT group and control group (P0.05). There were correlations between the concentrations of BPA and E2 and LH peak concentration and LH/FSH (P<0.05). Conclusions There is a certain correlation between the concentrations of BPA and ICPP.

20.
Tianjin Medical Journal ; (12): 440-442, 2014.
Artigo em Chinês | WPRIM | ID: wpr-473631

RESUMO

Objective To study the effect of rimonabant, cannabinoid receptor 1(CB1) antagonist, on the expressions of CB1 andα-smooth muscle actin (α-SMA) in C57 mice with experimental hepatic fibrosis, and their mechanisms in liver fibrosis progression thereof. Methods Thirty C57 mice were randomly divided into three groups, normal control group, mod-el control group and model+rimonabant group, 10 mice for each group. The mouse model of experimental hepatic fibrosis was induced by intraperitoneal injection with 10%CCl4 for two weeks. The normal saline was delivered by gavage daily in normal control group and model control group. Rimonabant was given to mice in model+rimonabant group. Mice were sacri-ficed at the end of eight weeks. Samples of liver tissue were collected. The expressions of CB1 andα-SMA in liver tissue of mice were observed by immunohistochemical staining. The score of fibrosis stage (S) in liver tissue was also analyzed. Re-sults The positive expressions of CB1 andα-SMA and the score S were significantly higher in model control group and model+rimonabant group than those in normal control group (P<0.05). The positive expressions of CB1 andα-SMA and the score S were significantly lower in rimonabant group than those in model control group (P<0.05). There were positive corre-lations in CB1,α-SMA and S scores between normal control group, model control group and model+rimonabant group (P<0.05). Conclusion The activation of CB1 can promote the formation of liver fibrosis. The anti-fibrotic effect of rimonabant, CB1 antagonist, related with the inhibiting of the proliferation and activation of hepatic stellate cells (HSC), and the inhibit-ing of the expression of CB1.

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