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1.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (12): 38-43, 2024.
Artículo en Chino | WPRIM | ID: wpr-1011099

RESUMEN

Objective:To analyze the phenotype and genotype characteristics of autosomal recessive hearing loss caused by MYO15A gene variants, and to provide genetic diagnosis and genetic counseling for patients and their families. Methods:Identification of MYO15A gene variants by next generation sequencing in two sporadic cases of hearing loss at Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine. The sequence variants were verified by Sanger sequencing.The pathogenicity of these variants was determined according to the American College of Medical Genetics and Genomics(ACMG) variant classification guidelines, in conjuction with clinical data. Results:The probands of the two families have bilateral,severe or complete hearing loss.Four variants of MYO15A were identified, including one pathogenic variant that has been reported, two likely pathogenic variants,and one splicing variant of uncertain significance. Patient I carries c. 3524dupA(p. Ser1176Valfs*14), a reported pathogenic variant, and a splicing variant c. 10082+3G>A of uncertain significance according to the ACMG guidelines. Patient I was treated with bilateral hearing aids with satisfactory effect, demonstrated average hearing thresholds of 37.5 dB in the right ear and 33.75 dB in the left ear. Patient Ⅱ carries c. 7441_7442del(p. Leu2481Glufs*86) and c. 10250_10252del(p. Ser3417del),a pair of as likely pathogenic variants according to the ACMG guidelines. Patient Ⅱ, who underwent right cochlear implantation eight years ago, achieved scores of 9 on the Categorical Auditory Performance-Ⅱ(CAP-Ⅱ) and 5 on the Speech Intelligibility Rating(SIR). Conclusion:This study's discovery of the rare c. 7441_7442del variant and the splicing variant c. 10082+3G>A in the MYO15A gene is closely associated with autosomal recessive hearing loss, expanding the MYO15A variant spectrum. Additionally, the pathogenicity assessment of the splicing variant facilitates classification of splicing variations.


Asunto(s)
Humanos , Linaje , China , Sordera/genética , Pérdida Auditiva/genética , Fenotipo , Pérdida Auditiva Sensorineural/genética , Mutación , Miosinas/genética
2.
Journal of Leukemia & Lymphoma ; (12): 158-160, 2023.
Artículo en Chino | WPRIM | ID: wpr-988967

RESUMEN

Objective:To investigate the clinical efficacy and safety of demethylating drugs decitabine and azacitidine in treatment of myelodysplastic syndromes (MDS).Methods:The clinical data of 15 patients initially diagnosed with MDS in Fujian Provincial Hospital from May 2010 to May 2020 were retrospectively analyzed; 10 patients were treated with decitabine (10-30 mg·m -2·d -1, 3-5 d consecutively) and 5 patients were treated with azacitidine (75 mg·m -2·d -1 for 7 d consecutively). Gene mutation, risk stratification, efficacy and adverse reactions were observed. Results:Among 15 patients, 9 cases were males and 6 cases were females, with a median age of 64 years (51-84 years). The median follow-up time was 18 months (4-62 months). There were 3 cases in high-risk group, 10 cases in medium-risk group and 2 cases in low-risk group. SF3B1, TET2 and STAG2 mutations were more common in patients with low to moderate risk; DNMT3A, EZH2, U2AF1, RUNX1 and TP53 mutations were more common in patients with high-risk. All patients were evaluated for efficacy after 2-3 courses of treatment, and the total effective rate was 66.7% (10/15). Among them, 1 case (6.7%) achieved complete remission, 1 case (6.7%) achieved bone marrow complete remission (mCR), 2 cases (13.3%) achieved partial remission, and 6 cases (40%) achieved hematological improvement. During the treatment, 9 cases had grade 3-4 hematological toxicity and 6 cases had grade 3-4 infection. There was no grade 3-4 bleeding, nausea, vomiting and liver function damage. During the follow-up to May 2020, 9 patients survived and 6 patients died.Conclusions:Demethylating drugs decitabine and azacitidine have high rates of complete remission and partial remission and a low rate of adverse drug reactions in MDS patients.

3.
Asian Journal of Andrology ; (6): 198-207, 2023.
Artículo en Inglés | WPRIM | ID: wpr-971013

RESUMEN

Mitogen-activated protein kinase-8-interacting protein 2 (MAPK8IP2) is a scaffold protein that modulates MAPK signal cascades. Although MAPK pathways were heavily implicated in prostate cancer progression, the regulation of MAPK8IP2 expression in prostate cancer is not yet reported. We assessed MAPK8IP2 gene expression in prostate cancer related to disease progression and patient survival outcomes. MAPK8IP2 expression was analyzed using multiple genome-wide gene expression datasets derived from The Cancer Genome Atlas (TCGA) RNA-sequence project and complementary DNA (cDNA) microarrays. Multivariable Cox regressions and log-rank tests were used to analyze the overall survival outcome and progression-free interval. MAPK8IP2 protein expression was evaluated using the immunohistochemistry approach. The quantitative PCR and Western blot methods analyzed androgen-stimulated MAPK8IP2 expression in LNCaP cells. In primary prostate cancer tissues, MAPK8IP2 mRNA expression levels were significantly higher than those in the case-matched benign prostatic tissues. Increased MAPK8IP2 expression was strongly correlated with late tumor stages, lymph node invasion, residual tumors after surgery, higher Gleason scores, and preoperational serum prostate-specific antigen (PSA) levels. MAPK8IP2 upregulation was significantly associated with worse overall survival outcomes and progression-free intervals. In castration-resistant prostate cancers, MAPK8IP2 expression strongly correlated with androgen receptor (AR) signaling activity. In cell culture-based experiments, MAPK8IP2 expression was stimulated by androgens in AR-positive prostate cancer cells. However, MAPK8IP2 expression was blocked by AR antagonists only in androgen-sensitive LNCaP but not castration-resistant C4-2B and 22RV1 cells. These results indicate that MAPK8IP2 is a robust prognostic factor and therapeutic biomarker for prostate cancer. The potential role of MAPK8IP2 in the castration-resistant progression is under further investigation.


Asunto(s)
Masculino , Humanos , Andrógenos/uso terapéutico , Receptores Androgénicos/genética , Pronóstico , Proteína Quinasa 8 Activada por Mitógenos/uso terapéutico , Línea Celular Tumoral , Neoplasias de la Próstata/patología , Neoplasias de la Próstata Resistentes a la Castración/tratamiento farmacológico , Regulación Neoplásica de la Expresión Génica
4.
Journal of Experimental Hematology ; (6): 1714-1719, 2023.
Artículo en Chino | WPRIM | ID: wpr-1010027

RESUMEN

OBJECTIVE@#To explore the short-term efficacy and adverse reactions of orelabrutinib combined with high-dose methotrexate (HD-MTX) in the first-line treatment of elderly high-risk primary central nervous system lymphoma (PCNSL), as well as the survival of patients.@*METHODS@#Twenty-five elderly patients with high-risk primary central nervous system diffuse large B-cell lymphoma admitted to Fujian Provincial Hospital from June 2016 to June 2022 were enrolled in this study, and complete clinical data from all patients were collected retrospectively, and the cut-off for follow-up was December 2022. 15 patients had received temmozolomide combined with HD-MTX regimen for at least four cycles, sequential lenalidomide maintenance therapy, while 10 patients had received orelabrutinib combined with HD-MTX regimen for at least four cycles, sequential orelabrutinib maintenance therapy. The short-term efficacy and adverse reactions of the two groups of patients after treatment were observed. Kaplan-Meier was used to analyze the progression-free survival (PFS) and time to progression (TTP).@*RESULTS@#The objective response rate (ORR) and 2-year median FPS of orelabrutinib combined with HD-MTX regimen group were similar to the temozolomide combined with HD-MTX regimen group (ORR: 100% vs 66.7%; 2-year median PFS: 16 months vs 15 months, P>0.05). The 2-year median TTP of the orelabrutinib+HD-MTX regimen group was better than that of the temozolomide+HD-MTX regimen group (not reached vs 12 months, P<0.05). There were no significant differences in adverse reactions such as gastrointestinal reactions, bone marrow suppression, liver and kidney damage, cardiotoxicity, pneumonia and bleeding between these two groups (P>0.05).@*CONCLUSION@#For elderly patients with high-risk PCNSL, orelabrutinib combined with HD-MTX has reliable short-term efficacy, good safety, and tolerable adverse reactions, which is worthy of clinical promotion.


Asunto(s)
Humanos , Anciano , Metotrexato/efectos adversos , Estudios Retrospectivos , Temozolomida/uso terapéutico , Neoplasias del Sistema Nervioso Central/tratamiento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Sistema Nervioso Central
5.
Journal of Experimental Hematology ; (6): 1192-1198, 2023.
Artículo en Chino | WPRIM | ID: wpr-1009974

RESUMEN

OBJECTIVE@#To observe the clinical characteristics and impact on mortality of carbapenem-resistant Pseudomonas aeruginosa (CRPA) colonized or infected patients with hematological disorders in order to provide evidence for the prevention and treatment of CRPA.@*METHODS@#The patients who were colonized or infected with CRPA in the Department of Hematology of The First Affiliated Hospital of Zhejiang Chinese Medical University from January 2020 to March 2021 were selected as the research subjects, the clinical data such as hospitalization time, primary disease treatment regimen, granulocyte count, previous infection and antibiotic regimen of these patients were analyzed, meanwhile, antibiotic regimen and efficacy during CRPA infection, 30-day and long-term survival were also analyzed.@*RESULTS@#A total of 59 patients were included in this study, and divided into CRPA infection group (43 cases) and CRPA colonization group (16 cases). Univariate logistic regression analysis showed that ECOG score (P =0.003), agranulocytosis (P <0.001), and exposure to upper than 3rd generations of cephalosporins and tigecycline within 30 days (P =0.035, P =0.017) were the high-risk factors for CRPA infection. Multivariate logistic regression analysis showed that ECOG score of 3/4 ( OR=10.815, 95%CI: 1.260-92.820, P =0.030) and agranulocytosis ( OR=13.82, 95%CI: 2.243-85.176, P =0.005) were independent risk factors for CRPA infection. There was a statistically significant difference in cumulative survival rate between CRPA colonization group and CRPA infection group ( χ2=14.134, P < 0.001). Kaplan-Meier survival analysis showed that the influencing factors of 30-day survival in patients with CRPA infection were agranulocytosis (P =0.022), soft tissue infection (P =0.03), and time of hospitalization before CRPA infection (P =0.041). Cox regression analysis showed that agranulocytosis was an independent risk factor affecting 30-day survival of patients with CRPA infection (HR=3.229, 95%CI :1.093-3.548, P =0.034).@*CONCLUSIONS@#Patients with hematological disorders have high mortality and poor prognosis after CRPA infection. Bloodstream infection and soft tissue infection are the main causes of death. Patients with high suspicion of CRPA infection and high-risk should be treated as soon as possible.


Asunto(s)
Humanos , Carbapenémicos/uso terapéutico , Pseudomonas aeruginosa , Infecciones de los Tejidos Blandos/tratamiento farmacológico , Antibacterianos/uso terapéutico , Enfermedades Hematológicas , Análisis de Supervivencia
6.
Chinese Journal of Medical Education Research ; (12): 572-576, 2022.
Artículo en Chino | WPRIM | ID: wpr-931451

RESUMEN

Objective:To explore the establishment and effect of short-term training path for prenatal ultrasound diagnosticians in primary hospitals.Methods:A total of 105 trainees from in total 5 batches of the "prenatal ultrasound screening training base" in Chongqing were selected as the research objects, and a combination of multiple teaching methods was used to carry out specialized training for primary prenatal ultrasound screening doctors before and after training. Theoretical examinations and practical operation assessments were performed, and after training, remote image quality control and continuous improvement methods were established for trainees to assess training effectiveness. SPSS 21.0 was used for t test, Wilcoxon test and chi-square test. Results:After training, the results of the theoretical examinations and practical operation examinations of the trainees were higher than those before the training ( P<0.05), and after the completion of the training, the number of trainees who returned to their original units to carry out prenatal ultrasound examination, the average number of prenatal ultrasound examinations per month and the number of referrals to higher prenatal diagnosis centers of each trainee increased significantly ( P<0.05). Conclusion:The establishment of short-term training path for prenatal ultrasound diagnosis can effectively improve the professional theoretical knowledge and practical operation level of prenatal ultrasound doctors in primary hospitals, and greatly solve the problem of technical promotion under the shortage of grassroots hospitals.

7.
Journal of Preventive Medicine ; (12): 782-787, 2022.
Artículo en Chino | WPRIM | ID: wpr-936795

RESUMEN

Objective@#To investigate the prevalence of scoliosis among primary and middle school students in Jiaxing City, Zhejiang Province, so as to provide insights into scoliosis control among children and adolescents. @*Methods@#Grade 4 to 6 primary school students and grade 1 to 3 junior high school students were recruited using a stratified cluster sampling method in Jiaxing City in 2019. Participants' demographic characteristics, dietary habits and nutritional status, physical activity, learning environments, reading and writing habits were collected using questionnaires. Scoliosis was screened through general examinations, forward bend test and scoliometer, and scoliosis was diagnosed with whole-spine X-ray scans in an erect position. The prevalence of scoliosis was descriptively analyzed among primary and middle school students.@*Results@#A total of 8 026 primary and middle school students were included, 7 304 valid questionnaires were recovered, with an effective recovery rate of 91.00%. The respondents included 3 667 primary school students (50.21%) and 3 637 junior high school students (49.79%), and included 3 776 boys (51.70%) and 3 528 girls (48.30%). There were 659 participants with initial screening positive for scoliosis (9.02%), and the percentages of positive initial screening of thoracic, thoracolumbar and lumbar scoliosis were 2.93%, 4.56% and 4.56%, respectively. A higher percentage of positive initial screening of scoliosis was diagnosed among participants living in Pinghu City (10.45%), junior high school students (11.74%), girls (11.96%), students with a medical history of anemia (22.44%), students with less than 3 days of moderate-intensity physical activity in the past week (9.46%), students with less than 3 days of walking duration of over 10 minutes in the past week (10.18%), students with daily sitting duration of 5 hours and more in the past week (10.74%), students with their class seats exchanged every semester or month (10.28%), students with daily reading and writing duration of 3 hours and more after school (10.93%) and students with less than 10 cm distance from the chest at reading or writing to the edge of the table (9.67%) (all P<0.05). A total of 218 students received whole-spine X-ray scans in an erect position, 132 participants were definitively diagnosed as scoliosis (60.55%), and the estimated prevalence of scoliosis was 5.46%.@*Conclusion@#The percentage of positive initial screening of scoliosis was 9.02% among primary and middle school students in Jiaxing City. Gender, stage of learning, nutritional status, exercise frequency and habits of reading and writing may be factors affecting the development of scoliosis.

8.
Journal of Preventive Medicine ; (12): 395-399, 2022.
Artículo en Chino | WPRIM | ID: wpr-923722

RESUMEN

Objective@#To investigate the prevalence of scoliosis and identify the influencing factors among children and adolescents in Jiaxing City, Zhejiang Province, so as to provide insights into the management of scoliosis among children and adolescents. @*Methods@#The fourth, fifth and sixth grade primary school students and the first, second and third grade junior high school students were selected using the stratified cluster sampling method in Jiaxing City in 2019. Students' demographic features, diet habits, physical activity and learning environments and habits were collected using questionnaire surveys. Scoliosis was screened using whole-spine X-ray scans in an upright position, and the factors affecting scoliosis were identified using multivariable logistic regression analysis.@*Results@#Valid surveys were completed among 2 568 students, including 1 352 boys ( 52.65% ) and 1 216 girls ( 47.35% ), and there were 1 335 primary school students ( 51.99% ) and 1 233 junior high school students ( 48.01% ). A total of 93 students were detected with scoliosis, with a prevalence rate of 3.62%. Multivariable logistic regression analysis identified age ( OR=0.826, 95%CI: 0.710-0.960 ), gender ( OR=2.079, 95%CI: 1.343-3.221 ) and vigorous physical activity in the past 7 days ( OR=2.514, 95%CI: 1.248-5.063 ) as factors affecting scoliosis among primary and junior high school students.@*Conclusions@#The prevalence of scoliosis is high among primary and junior high school students in Jiaxing City. Age, gender and physical activity may affect the risk of scoliosis. Scoliosis screening is recommended to be included in routine healthy

9.
Journal of Leukemia & Lymphoma ; (12): 397-401, 2022.
Artículo en Chino | WPRIM | ID: wpr-953977

RESUMEN

Objective:To investigate the efficacy of venetoclax-based combined regimen in treatment of adult patients with acute myeloid leukemia (AML).Methods:The data of 50 adult AML (non-acute promyelocytic leukemia) who received venetoclax-based combined regimen in the First Affiliated Hospital of Xiamen University, Dongguan People's Hospital, the First Hospital of Longyan City, Jieyang People's Hospital from December 2018 to May 2021 were retrospectively analyzed. Different doses venetoclax combined with demethylation drugs or low-dose chemotherapy regimen were used to analyze the therapeutic efficacy. The related factors influencing efficacy were analyzed by using logistic regression.Results:The composite complete remission (CR) rate of 50 AML patients was 62.0% (31/50), the overall response rate (ORR) was 76.0% (38/50); 28 patients achieved effectiveness [CR and partial remission (PR)] after the first cycle and could achieve effectiveness by 3 courses of treatment at the latest. Among 50 patients, 28 cases were newly diagnosed AML, the composite CR rate was 60.8% (17/28), ORR was 78.6% (22/28); 22 cases were recurrent and relapsed, the composite CR rate was 63.6% (14/22), ORR was 72.7% (16/22); and there was no statistically significant difference of ORR between the both groups ( χ2 = 0.23, P = 0.743). Logistic regression multivariate analysis showed age was the only independent influencing factor for the treatment effectiveness ( OR = 8.451, 95% CI 1.306-54.697, P = 0.025). The median duration time of patients receiving venetoclax treatment regimen was 4.5 months (1.1-15.0 months); 16 cases who had treatment effectiveness finally relapsed, the median time of maintaining effectiveness was 5 months (1.1-11.0 months). Additionally, the common treatment-related adverse reactions included bone marrow suppression after treatment, followed by some gastrointestinal reactions like nausea, vomiting and stomachache. In addition, no patient stopped medication for more than 1 week due to bone marrow suppression related complications. Conclusion:Venetoclax-based combined regimen shows a good short-term efficacy in treatment of AML. It is also effective and tolerable for elderly patients receiving reduced dose therapy.

10.
Chinese Journal of Perinatal Medicine ; (12): 670-676, 2022.
Artículo en Chino | WPRIM | ID: wpr-958125

RESUMEN

Objective:To explore the status of early essential newborn care (EENC) implementation in four counties in western China.Methods:Based on the 18 counties from "safety newborn project", which was jointly launched by the National Health Commission (NHC) of China and United Nations Children's Fund, one county was randomly selected from Ningxia Hui Autonomous Region, and Guizhou, Sichuan and Qinghai Province, respectively (Longde county, Qinglong county, Tongjiang county, and Tongren county). Then one or two county-level birth facilities were randomly selected from each county for the field investigation from December 2020 to April 2021. Information of EENC core practice implementation was collected through questionnaires for mother-newborn dyads, and interviewees' experiences, attitudes, and needs for EENC implementation were obtained through focus group discussion and in-depth interviews with mothers. SAS 9.4 and NVivo 12.0 were used for quantitative and qualitative data analysis, then the results were integrated.Results:A total of 599 questionnaires for mother-newborn dyads were collected from the four counties, and 45 health staff and 15 mothers were interviewed. The proportion of participants with skin-to-skin contact (SSC) ≥90 min was the highest in Qinglong County, Guizhou Province (90.0%, 95% CI:85.2%-94.8%), followed by Tongjiang County, Sichuan Province (83.6%, 95% CI:77.7%-89.5%). The highest rate of early breastfeeding initiation was observed in Tongren County, Qinghai Province (99.3%, 95% CI:97.8%-100.0%). The positive experience of SSC for mothers were mainly from the promotion of happiness and early breastfeeding. Applied no medicine to the end of the umbilical cord, neonatal routine eye care, and vitamin K 1 administration were successfully promoted in the four counties, which gradually became a norm. However, some respondents still had doubts about SSC and applying no medicine to the end of the umbilical cord. Conclusions:Core practices recommended in EEEC were successfully introduced to the project counties despite concerns about certain practices from some medical staff and mothers. Further dissemination and training for EENC were needed to promote the scale-up of EENC in China.

11.
China Journal of Orthopaedics and Traumatology ; (12): 321-327, 2021.
Artículo en Chino | WPRIM | ID: wpr-879436

RESUMEN

OBJECTIVE@#To explore the treatment strategy and clinical efficacy for os odontoideum complicated with atlantoaxial dislocation.@*METHODS@#The clinical data of 17 patients with os odontoideum complicated with atlantoaxial dislocation surgically treated from January 2006 to January 2015 were retrospectively analyzed, including 7 males and 10 females, aged 17 to 53 (43.1±11.3) years old;course of disease was 3 to 27(10.2±6.9) months. All patients received cranial traction before operation, 12 of 14 patients with reducible dislocation were treated by posterior atlantoaxial fixation and fusion, and 2 patients with atlantooccipital deformity were treated by posterior occipitocervical fixation and fusion;3 patients with irreducible alantoaxial dislocation were treated by transoral approach decompression combined with posterior atlantoaxial fixation and fusion. The operation time, intraoperative blood loss and perioperative complications were recorded. Visual analogue scale (VAS) and Japanese Orthopaedic Association (JOA) score were used to evaluate the change of neck pain and neurological function. Atlantoaxial joint fusion rate was evaluated by CT scan.@*RESULTS@#The operation time of posterior fixation and fusion ranged from 86 to 170 (92.2±27.5) min, and the intraoperative blood loss was 200-350 (250.7±65.2) ml. No vertebral artery injury and spinal cord injury were recorded. Among the patients underwent atlantoaxial fixation and fusion, 1 patient with reducible dislocation fixed by C@*CONCLUSION@#Surgical treatment of os odontoideum complicated with atlantoaxial dislocation can achieve satisfactory results, improve the patient's neurological function and improve the quality of life, however the surgical options needs to be individualized.


Asunto(s)
Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Articulación Atlantoaxoidea/cirugía , Vértebra Cervical Axis , Luxaciones Articulares/cirugía , Calidad de Vida , Estudios Retrospectivos , Fusión Vertebral , Resultado del Tratamiento
12.
Chinese Acupuncture & Moxibustion ; (12): 1338-1342, 2021.
Artículo en Chino | WPRIM | ID: wpr-921056

RESUMEN

OBJECTIVE@#To compare the effect of @*METHODS@#A total of 74 patients with RIF of thin endometrium type undergoing freeze-thaw embryo transfer were randomly divided into an observation group (37 cases) and a control group (37 cases). The patients in the control group were treated with freeze-thaw embryo transfer in hormone replacement cycle, and the estradiol valerate tablets were taken orally from the fifth day of menstruation, 2 mg per day. On the basis of the control group, the observation group was additionally treated with @*RESULTS@#The clinical pregnancy rate was 37.8% (14/37) in the observation group, which was higher than 16.2% (6/37) in the control group (@*CONCLUSION@#On the basis of conventional medication,


Asunto(s)
Femenino , Humanos , Embarazo , Terapia por Acupuntura , Transferencia de Embrión , Endometrio , Resultado del Embarazo , Índice de Embarazo
13.
Asian Journal of Andrology ; (6): 409-414, 2021.
Artículo en Inglés | WPRIM | ID: wpr-888432

RESUMEN

Accurate methods for identifying pelvic lymph node metastasis (LNM) of prostate cancer (PCa) prior to surgery are still lacking. We aimed to investigate the predictive value of peripheral monocyte count (PMC) for LNM of PCa in this study. Two hundred and ninety-eight patients from three centers were divided into a training set (n = 125) and a validation set (n = 173). In the training set, the independent predictors of LNM were analyzed using univariate and multivariate logistic regression analyses, and the optimal cutoff value was calculated by the receiver operating characteristic (ROC) curve. The sensitivity and specificity of the optimal cutoff were authenticated in the validation cohort. Finally, a nomogram based on the PMC was constructed for predicting LNM. Multivariate analyses of the training cohort demonstrated that clinical T stage, preoperative Gleason score, and PMC were independent risk factors for LNM. The subsequent ROC analysis showed that the optimal cutoff value of PMC for diagnosing LNM was 0.405 × 109 l

15.
Journal of Gynecologic Oncology ; : e24-2020.
Artículo | WPRIM | ID: wpr-834464

RESUMEN

Objective@#The characteristics of patients with metachronous breast and ovarian malignancies and the pathogenic role of BRCA1/2 mutations remain poorly understood. We investigated these issues through a review of hospital records and nationwide Taiwanese registry data, followed by BRCA1/2 mutation analysis in hospital-based cases. @*Methods@#We retrospectively retrieved consecutive clinical records of Taiwanese patients who presented with these malignancies to our hospital between 2001 and 2017. We also collected information from the Data Science Center of the Taiwan Cancer Registry (TCR) between 2007 and 2015. Next-generation sequencing and multiplex ligation-dependent probe amplification were used to identify BRCA1/2 mutations and large genomic rearrangements, respectively. When BRCA1/2 mutations were identified in index cases, pedigrees were reconstructed and genetic testing was offered to family members. @*Results@#A total of 12,769 patients with breast cancer and 1,537 with ovarian cancer were retrieved from our hospital records. Of them, 28 had metachronous breast and ovarian malignancies. We also identified 113 cases from the TCR dataset. Eighteen hospital-based cases underwent BRCA1/2 sequencing and germline pathogenic mutations were detected in 7 patients (38.9%, 5 in BRCA1 and 2 in BRCA2). All BRCA1/2 mutation carriers had ovarian high-grade serous carcinomas. Of the 12 patients who were alive at the time of analysis, 5 were BRCA1/2 mutation carriers. All of them had family members with BRCA1/2-associated malignancies. @*Conclusions@#Our results provide pilot evidence that BRCA1/2 mutations are common in Taiwanese patients with metachronous breast and ovarian malignancies, supporting the clinical utility of genetic counseling.

16.
Journal of Gynecologic Oncology ; : e5-2020.
Artículo | WPRIM | ID: wpr-834438

RESUMEN

Objectives@#An Asian Gynecologic Oncology Group phase III randomized trial was conducted to determine whether maintenance chemotherapy could improve progression-free survival (PFS) in stages III/IV ovarian cancer. @*Methods@#Between 2007 and 2014, 45 newly-diagnosed ovarian cancer patients were enrolled after complete remission and randomized (1:1) to arm A (4-weekly carboplatin area under the curve 4 and pegylated liposomal doxorubicin [PLD] 30 mg/m2, n=24) for 6 cycles or arm B (observation, n=21). The primary end-point was PFS. A post hoc translational study was conducted to deep sequence BRCA/homologous recombination deficiency (HRD) genes, because BRCA/HRD mutations (BRCA/HRDm) are known to be associated with better prognosis. @*Results@#Enrollment was slow, accrual was closed when 7+ years had passed. With a medianfollow-up of 88.9 months, the median PFS was significantly better in arm A (55.5 months) than arm B (9.2 months) (hazard ratio [HR]=0.40; 95% confidence interval [CI]=0.19–0.87; p=0.020), yet the median overall survival was not significantly different in arm A (not reached) than arm B (95.1 months) (p=0.148). Overall grade 3/4 adverse events were more frequent in arm A than arm B (60.9% vs 0.0%) (p<0.001). Quality of life was generally not significantly different. Distribution of BRCA1/2m or BRCA/HRDm was not significantly biased between the two arms. Wild-type BRCAon-HRD subgroup seemed to fare better with maintenance therapy (HR=0.35; 95% CI=0.11–1.18; p=0.091). @*Conclusions@#Despite limitations in small sample size, it suggests that maintenance carboplatin-PLD chemotherapy could improve PFS in advanced ovarian cancer.

17.
Journal of Acupuncture and Tuina Science ; (6): 111-115, 2020.
Artículo en Chino | WPRIM | ID: wpr-824959

RESUMEN

Objective: To observe the clinical efficacy of deep electroacupuncture (EA) at Baliao points in treating stress urinary incontinence (SUI). Methods: A total of 60 female patients with SUI were divided into two groups according to the order of consultation, with 30 cases in each group. The control group was treated with pelvic floor muscle training. The treatment group was treated with deep EA at Baliao points [Shangliao (BL 31), Ciliao (BL 32), Zhongliao (BL 33) and Xialiao (BL 34)]. Results: The total effective rate was 93.3% in the treatment group, versus 33.3% in the control group, and the total effective rate of the treatment group was significantly higher than that of the control group (P<0.05). After treatment, the scores of international consultation on incontinence questionnaire-short form (ICIQ-SF) and the volume of urinary leakage in both groups were lower than those before treatment (all P<0.05), and the ICIQ-SF score and the volume of urinary leakage in the treatment group were lower than those in the control group (both P<0.05). Conclusion: Deep EA at Baliao points with long needles can improve the clinical symptoms in female patients with SUI, and it has a better curative effect than pelvic floor muscle training.

18.
Chinese Journal of Radiology ; (12): 514-520, 2020.
Artículo en Chino | WPRIM | ID: wpr-868317

RESUMEN

Objective:To evaluate the feasibility of high concentrated contrast media combined with monochromatic images to improve image quality with double low scanning in dual-layer spectral coronary CT angiography.Methods:Fifty-six patients with suspected coronary artery disease were enrolled and randomly separated into two groups. All patients were scanned at 120 kVp in step-and-shoot mode using a dual-layer detector CT (IQon spectral CT). Patients were either injected with 18 ml high concentration contrast medium(400 mgl/ml) at 2 ml/s (group A) or 45 ml contrast medium (370 mgl/ml) at 4 ml/s (group B). Forty to 80 keV monoenergetic images with 10 keV increment and conventional image (group A2) were reconstructed for group A, conventional poly-energetic image was reconstructed for group B. Region of interest was placed on aorta root (AO), middle segment of left anterior descending (LAD), left circumflex (LCX) and right coronary artery (RCA) to measure the attenuation and noise, signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR). Image quality was assessed by two reviewers independently with a 4-point scale on image quality (1-undiagnostic,4-excellent). The objective and subjective image evaluation were compared using the Kruskal-Wallis test. The Steel Dwass was used for multiple comparisons between monoenergetic images in Group A and conventional images in Group B, after the Kruskal-Wallis test.Results:There were significant differences among the attenuation, noise, SNR and CNR of group B, group A2, and monoenergetic images(all P<0.001).The CT value in the aortic root was significantly higher at 40-50 keV monoenergetic images than that in group B(all P<0.05), and similarly, the CT value in LAD,LCX and RCA at 40 keV were superior than that in group B(all P<0.001). There was no significant difference in the noise of the aortic root among 40 keV image, group A2 and group B(all P>0.05),while the noise in the 50-80 keV monoenergetic images were significantly lower than that in Group B(all P<0.001). The SNR and CNR in the aortic root were significantly higher at 40-60 keV monoenergetic images than that in group B(all P<0.001).The SNR in LAD and RCA at 40,50 keV and the CNR in LAD and RCA at 40-60 keV were higher than that in group B(all P<0.01).The SNR at 40-60 keV and CNR at 40-70 keV in LCX were superior than that in group B(all P<0.05). There were significant differences among the subjective image quality score of group B, group A2, and monoenergetic images(all P<0.001).The subjective image quality score of 40,50 keV images were not significantly different from that in group B (all P>0.05),while the score in 60-80 keV image and group A2 were lower than that of Group B(all P<0.001). Conclusion:40,50 keV low monochromatic images derived from dual-layer spectral detect CT combined with high concentrated contrast media can provide comparable or superior image quality with double low scanning in CCTA study.

19.
China Journal of Orthopaedics and Traumatology ; (12): 440-444, 2020.
Artículo en Chino | WPRIM | ID: wpr-828275

RESUMEN

OBJECTIVE@#To assess the curative effects of injured vertebra pedicle fixation combined with vertebroplasty and short-segment pedicle screw fixation combined with vertebroplasty in treatment of osteoporotic thoracolumbar burst fractures.@*METHODS@#Seventy patients with osteoporotic thoracolumbar burst fractures who met the inclusion criteria were collected in the study from January 2015 to December 2017. Among them, 35 patients were treated with injured vertebra pedicle fixation combined with vertebroplasty (group A), including 20 males and 15 females, aged from 55 to 74 years with an average of (64.03± 7.82) years. Twenty-six cases were type A3 and 9 cases were type A4 according to the AO typing;another 35 patients were treated with short segment pedicle screw fixation combined with vertebroplasty (group B), including 18 males and 17 females, aged from 54 to 72 years with an average of (62.78±6.40) years. Twenty-eight cases were type A3 and 7 cases were type A4 according to AO typing. Operation length, intraoperative bleeding volume, complication, imaging parameters and clinical effects were compared between the two groups.@*RESULTS@#All the patients were followed up for at least 12 months. There were no significant differences in gender, age, injury site, preoperative VAS, Cobb angle, and injured vertebral height before surgery. There were no significant differences in operation length, intraoperative bleeding volume between two groups. In terms of VAS scores before surgery, 1 week after surgery, and at the final follow up, group A was 5.5 ±2.5, 1.8 ±0.8, 0.9 ±0.4, group B was 5.4 ± 2.3, 1.7±0.6, 1.2±1.8, respectively;injured vertebral height was (40.4±8.8)%, (92.0±4.9)%, (87.1±3.8)% in group A, and (41.2±6.6)%, (93.2±4.6)%, (80.0±4.3)% in group B;Cobb angle was (18.4±6.9) °, (2.8±2.2) °, (4.2±2.6) ° in group A, and (16.8±7.2) °, (2.7±2.5) °, (6.0±2.4) ° in group B. There were significant differences in the 3 parameters above before the operation and at the final follow up in all groups (<0.05). There were significant differences in the Cobb angle and injured vertebral height between 1 week after operation and at the final follow up (<0.05). At the final follow up, injured vertebral height in group A was obviously better than that in group B (<0.05). Internal fixation failure occurred in 2 cases from the group A, and occurred in 4 cases from the group B. There were no neurological complications in both groups.@*CONCLUSION@#For osteoporotic thoracolumbar vertebral burst fractures, injured vertebra pedicle fixation combined with vertebroplasty and vertebra pedicle screw fixation combined with vertebroplasty can achieve good clinical effects. However, injured vertebra pedicle fixation combined with vertebroplasty is better at maintaining postoperative vertebral height and sagittal arrangement, and reducing internal fixation related complications. The treatment strategy is worthy of application and promotion.


Asunto(s)
Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fijación Interna de Fracturas , Vértebras Lumbares , Tornillos Pediculares , Fracturas de la Columna Vertebral , Vértebras Torácicas , Resultado del Tratamiento , Vertebroplastia
20.
Journal of Southern Medical University ; (12): 1359-1364, 2020.
Artículo en Chino | WPRIM | ID: wpr-827494

RESUMEN

OBJECTIVE@#To explore the effect of mild hypothermia on inflammatory response and angiogenesis in brain tissues of rats with intracerebral hemorrhage (ICH) and its possible mechanism for improving behavioral deficits of the rats After ICH.@*METHODS@#A total of 120 healthy male SD rats were randomly divided into sham operation group, ICH group and mild hypothermia group. Rat models of ICH were established in the latter two groups by stereotactic injection of autogenous blood in the brain, and the rats in the sham operation group received injection of normal saline in the same manner. At 15 min after modeling, the rats in hypothermia group were subjected to mild hypothermia (30-32 ℃) for 8 h followed by rewarming (37-38 ℃); the body temperature was maintained at 37-38 ℃ in the other two groups. At 2, 4, 7, 14 and 21 days after the treatment, Longa scoring, balance beam scoring and Berderson scoring were used to evaluate the behavioral deficits of the rats. Immunohistochemical staining was used to detect the protein expressions of tumor necrosis factor-α (TNF-α) and nuclear factor-κB (NF-κB) in the brain tissue of the rats, and the mRNA expressions of α subunit of hypoxia-inducible factor 1 (HIF1-α) and vascular endothelial growth factor (VEGF) were detected using RT- PCR.@*RESULTS@#At 2, 4, 7, 14 and 21 days after the treatment, the behavioral scores of the rats were significantly higher in ICH group and mild induced hypothermia group than in the sham operation group ( < 0.05 or 0.01). The protein expressions of TNF-α and NF-κB and mRNA expressions of HIF1-α and VEGF were significantly higher in ICH group and mild hypothermia group than in the sham operation group ( < 0.01). The behavioral scores were significantly lower in mild hypothermia group than in ICH group ( < 0.05), and the protein expressions of TNF-α and NF-κB were lower and the mRNA expressions of HIF1- α and VEGF were higher in mild hypothermia group than in ICH group ( < 0.05 or 0.01).@*CONCLUSIONS@#Mild hypothermia can improve behavioral deficits in rats with ICH possibly by antagonizing brain inflammation and promoting angiogenesis.

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