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1.
Zhonghua Yi Xue Za Zhi ; 104(29): 2767-2772, 2024 Jul 30.
Artigo em Chinês | MEDLINE | ID: mdl-39075997

RESUMO

Objective: To analyze the imaging characteristics and surgical effect for symmetrical lumbar hemivertebrae in pediatric patients. Methods: The data of 13 patients with hemivertebrae locating in the lumbar spine symmetrically were retrospectively analyzed, and all the patients were treated in Beijing Children's Hospital from January 2015 to September 2021. The mean age of the patients was 6.2 (2.9, 9.3) years. There were 8 males and 5 females. The data of coronal/sagittal plane including segmental Cobb angle, cranial/caudal compensatory curve, thoracic kyphosis, thoracolumbar kyphosis, sacral obliquity, and lumbar lordosis were recorded through long cassette spinal radiographs. Associated anomalies and the relationship between hemivertebrae and posterior component were recorded through computerized tomography (CT) and magnetic resonance imaging (MRI). All the patients received surgery, and their pre-and postoperative imaging data were compared. Results: A total of 26 hemivertebraes were found, in which 80.8% (21/26) located below L2. Hemivertebraes in 10 patients were separated by a mean 1-2 normal vertebrae. Most hemivertebraes along with the corresponding posterior component were unison (21/26, 80.8%). The Cobb angles of cranial compensatory curve (13.9°±7.2°) was more serious than that of caudal compensatory curve (5.5°±5.0°)(P=0.04). The lumbar lordosis and thoracic kyphosis was 20.2°±15.0° and 18.7°±9.2°, respectively. Six patients complicated with sacral obliquity, while 7 patients complicated with thoracolumbar lordosis. Associated anomalies were found in 6 (46.2%) patients through CT and MRI. Eleven patients received one-or two-stage posterior hemivertebrae resection with short segmental fusion, and 2 patients received one-stage hemivertebrae resection with long segmental fusion. All the surgery were completed successfully without serious complications such as nerve injury, infection, and implant failure. The mean follow-up period was (42.4±10.2) months. At the last follow-up point, the correction rate of segmental Cobb angle and cranial compensatory curve was 83.3%±15.6% and 38.1%±10.4%, respectively, showing significant improvement (P<0.05). Although the caudal compensatory curve, sacral obliquity, and thoracic kyphosis improved after surgery, the data showed no significant difference compared to that before surgery. Thoracolumbar lordosis in all patients were corrected. Conclusions: Most hemivertebraes in such spinal deformity locate in lower lumbar region with a high incidence of anomalies. Individualized treatment based on patients' condition is essential for the complicated spinal deformity.


Assuntos
Cifose , Vértebras Lombares , Escoliose , Humanos , Masculino , Feminino , Estudos Retrospectivos , Criança , Vértebras Lombares/anormalidades , Vértebras Lombares/cirurgia , Vértebras Lombares/diagnóstico por imagem , Escoliose/cirurgia , Escoliose/diagnóstico por imagem , Pré-Escolar , Cifose/cirurgia , Cifose/diagnóstico por imagem , Vértebras Torácicas/anormalidades , Vértebras Torácicas/cirurgia , Vértebras Torácicas/diagnóstico por imagem , Corpo Vertebral/anormalidades , Corpo Vertebral/diagnóstico por imagem , Lordose/diagnóstico por imagem
2.
Artigo em Chinês | MEDLINE | ID: mdl-38811172

RESUMO

Objective: The purpose of this study was to investigate the characteristics of distortion product otoacoustic emissions (DPOAE) in patients with auditory neuropathy (AN). The factors affecting DPOAE elicitation rate of each frequency, elicitation rate of each ear and change rate of first and last diagnosis in the natural course were analyzed. Methods: The sample was obtained from the Multicenter Study on Clinical Diagnosis and Intervention of AN (registration number: ChiCTR2100050125), and the diagnostic criteria for AN were based on the Chinese Clinical Practice Guidelines of Auditory Neuropathy (version 2022). Patients with bilateral AN who underwent 2 or more DPOAE tests were screened and divided into infant groups (≤3 years old) and non-infant groups (>3 years old) according to the age of detection, and the trend of DPOAE elicitation rate of each frequency, elicitation rate of each ear and change rate in the natural course of disease were analyzed, in order to explore the relevant influencing factors. Results: A total of 165 patients (330 ears) with AN were included in the study. The overall DPOAE elicitation rate per ear was 77.0%±29.4% at the initial diagnosis and 65.1%±35.2% at the final diagnosis, with a reduction observed in the elicitation rate of 171 ears (51.82%). In the infant group, there were 49 cases (98 ears), including 28 males and 21 females, whose found age ranged from 0 to 3 years old, with a median age of 0.7 years. DPOAE elicitation rate per ear was 57.9%±35.5% in the initial diagnosis, and 32.4%±32.1% in the final diagnosis, with a reduction observed in the elicitation rate of 69 ears (70.41%). In the non-infant group, there were 116 cases (232 ears), including 59 males and 57 females, ranging in found age from 3.9 to 40 years old, with a median age of 14 years old. DPOAE elicitation rate per ear was 84.6%±23.4% in the initial diagnosis, and 78.3%±27.1% in the final diagnosis, with a reduction observed in the elicitation rate of 102 ears (43.97%). Age was found to be correlated with DPOAE changes by multicategorical unordered logistic regression analysis (B=-0.224, OR=0.799, P<0.001). Conclusions: The elicitation rate of DPOAE in AN patients decreases or even disappears with increasing disease duration; The rate of DPOAE extraction is found to be lower in infant patients with auditory neuropathy (AN) compared to non-infant AN patients. Additionally, it is observed that the decrease in DPOAE extraction rate is more pronounced in infant AN patients as the disease progressed, as compared to non-infant AN patients. DPOAE and cochlear microphonic potentials should be fully combined for accurate diagnosis, and regular follow-up should be conducted to understand the natural course of the disease and give personalized guidance and assistance.


Assuntos
Perda Auditiva Central , Emissões Otoacústicas Espontâneas , Humanos , Pré-Escolar , Lactente , Perda Auditiva Central/fisiopatologia , Perda Auditiva Central/diagnóstico , Criança , Feminino , Masculino , Adolescente , Adulto , Adulto Jovem
3.
Zhonghua Wai Ke Za Zhi ; 62(6): 606-612, 2024 Jun 01.
Artigo em Chinês | MEDLINE | ID: mdl-38682633

RESUMO

Objective: To explore the risk factors of short-term prognosis of severe Budd-Chiari syndrome (BCS) patients,established and verified the nomogram prediction model for these BCS patients and evaluated its clinical application value. Methods: This study is a retrospective cohort study. The clinical data of 171 patients with severe BCS diagnosed were retrospectively analyzed in the Department of Hepatopancreatobiliary Surgery First Affiliated Hospital of Zhengzhou University from January 2018 to December 2023. There were 105 males and 66 females, aged (52.1±12.8) years (range: 18 to 79 years). The patients were divided into two groups based on whether they died within 28 days: the death group (n=38) and the survival group (n=133). The risk factors for short-term death of patients were analyzed,and independent risk factors were screened by univariate and multivariate analysis. Furthermore,these factors were used to establish the nomogram prediction model. The area under the curve(AUC),the Bootstrap Resampling,the Hosmer-Lemeshow test and the Decision Curve Analysis(DCA) were used to verify the model's differentiation,internal verification,calibration degree and clinical effectiveness,respectively. Results: Univariate and multivariate Logistics regression analysis showed that the history of hepatic encephalopathy,white blood cell,glomerular filtration rate and prothrombin time were independent risk factors (P<0.05). The above factors were used to successfully establish the prediction model with 0.908 of AUC and 0.895 of the internal verification of AUC,indicating that the predictive model was valuable. The 0.663 P-values in the Hosmer-Lemeshow test indicated the high calibration degree of the model. The clinical effectiveness of the model was proved by the 18% clinical benefit population using the DCA curve with the 17% probability threshold. Conclusions: The independent risk factors are the history of hepatic encephalopathy,white blood cell,glomerular filtration rate and prothrombin time. An adequate basis was acquired by establishing a nomogram prediction model of the short-term prognosis of severe BCS,which was helpful for early clinical screening and identification of high-risk patients with severe BCS who could die in the short term and timely providing timely intervention measures for improving the prognosis.


Assuntos
Síndrome de Budd-Chiari , Nomogramas , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Síndrome de Budd-Chiari/diagnóstico , Síndrome de Budd-Chiari/cirurgia , Estudos Retrospectivos , Prognóstico , Fatores de Risco , Adulto , Idoso , Adolescente , Adulto Jovem
4.
Zhonghua Wai Ke Za Zhi ; 62(3): 187-193, 2024 Mar 01.
Artigo em Chinês | MEDLINE | ID: mdl-38291634

RESUMO

Objectives: To investigate the clinical efficacy of unilateral biportal endoscopy (UBE) in the treatment of degenerative lumbar disease (DLD) and its impact on postoperative lumbar stability. Methods: This is a retrospective case series study. A total of 109 cases of DLD treated with UBE in the Department of Orthopaedic, Beijing Chaoyang Hospital Affiliated to Capital Medical University from July 2020 to June 2022 were analyzed retrospectively. There were 47 males and 62 females, aged (53.3±8.2) years (range: 21 to 80 years). The surgical segments were single segment in 80 cases, two segments in 25 cases, and three segments in 4 cases. The low back pain and leg pain of visual analogue scale (VAS), Japanese Orthopaedic Association (JOA) score and Oswestry disability index (ODI) were evaluated before and after operation. The modified MacNab criteria were used for evaluation of the clinical consequences. Postoperative three-dimensional lumbar CT was performed to observe the preservation of the facet joints and the angle of the medial surface of the facetectomy(ß angle). At 12 months after surgery, X ray of the flexion and extension lumbar spine were reviewed. The comparison and analysis of the data were conducted using paired sample t tests or generalized estimation equations. Results: All 109 patients underwent operative procedures successfully. The operation time was (94.5±37.1) minutes (range:56 to 245 minutes), the times of X ray was 6.8±4.0 (range:4 to 16 times), and the days of hospitalization was (5.3±3.7) days (range:4 to 14 days). Complications included dural tears in 4 cases, transient lower limb numbness in 4 cases, epidural hematoma in 2 case. The follow-up time was (19.6±7.2) months (range:12 to 36 months). The postoperative low back pain VAS, leg pain VAS, JOA score and ODI were significantly improved(all P<0.05). According to the modified MacNab criteria, the excellent and good rate was 88.99%(97/109) at 12 months after surgery. One case underwent revision surgery because of recurrent lumbar disc herniation. In term of radiographic evaluation, the area of the surgical side facet joints after UBE surgery was reserved more than 60%. The ß angle was less than 90° in all patients. After 12 months of surgery, there was no surgical segment instability or spondylolisthesis by the X-ray of the flexion and extension lumbar spine. Conclusion: UBE can achieve satisfactory clinical efficacy in the treatment of DLD, and maintain the stability of the lumbar spine.


Assuntos
Deslocamento do Disco Intervertebral , Dor Lombar , Fusão Vertebral , Masculino , Feminino , Humanos , Estudos Retrospectivos , Dor Lombar/cirurgia , Endoscopia/métodos , Deslocamento do Disco Intervertebral/cirurgia , Resultado do Tratamento , Vértebras Lombares/cirurgia
5.
Zhonghua Yi Xue Za Zhi ; 103(34): 2720-2726, 2023 Sep 12.
Artigo em Chinês | MEDLINE | ID: mdl-37675544

RESUMO

Objective: To study the effect of unexpected follicular development in artificial cycles on the clinical outcomes in frozen thawed embryo transfer based on propensity score matching(PSM). Methods: The retrospective cohort study analyzed the clinical data of 7 064 cycles (5 716 patients) of artificial cycle frozen-thawed embryo transfer (AC-FET) in the Reproduction Center of the Third Affiliated Hospital of Zhengzhou University from January 1, 2016 to December 31, 2020. The clinical data were divided into three groups according to the degree of follicular development in AC-FET: no follicular growth group (group A, 6 349 cycles), small follicular growth group (group B, 248 cycles), and large follicular growth group (group C, 467 cycles). Differences in clinical outcomes between the small follicle growth group (Group B) and the large follicle growth group (Group C) were compared with the no follicle growth group (Group A) after PSM and logistic regression to adjust for confounding factors at baseline. A binary logistic regression model was used to analyze the factors related to the unanticipated follicular development in AC-FET. Results: Age [M(Q1,Q3)] was [31.0 (28.0, 36.0)] years in Group A, [34.5 (30.0, 40.0)] years in Group B, and [36.0 (31.0, 41.0)] years in Group C. After adjusting for confounders, the differences between Groups A and B in clinical pregnancy rate (P=0.169), live birth rate (P=0.318), early abortion rate (P=0.470), and miscarriage rate (P=0.783) were not statistically significant. The differences in clinical pregnancy rate (P=0.743), live birth rate (P=0.486) and miscarriage rate (P=0.080) between Groups A and C were not statistically significant, while early miscarriage rate (P=0.034) differences were statistically significant. The age, BMI, basal AFC, AMH and starting dose of estrogen were correlates of the emergence of non-expected small follicles in Groups B and A. The adjusted OR (AOR) values (95%CI) were 1.03 (1.01-1.06), 0.93 (0.90-0.98), 0.97 (0.95-0.99), 0.96 (0.95-0.97), and 0.59 (0.45-0.77), all P<0.05. Age, basal AFC, AMH and starting dose of estrogen were the associated factors of the appearance of non-expected large follicles in Groups C and A. The AOR values (95%CI) were 1.03 (1.01-1.05), 0.93 (0.91-0.95), 0.96 (0.95-0.97), and 0.52 (0.42-0.64), all P<0.05. Conclusions: In AC-FET, the clinical outcome of small follicular growth is similar to that of unfollicular growth; Compared with the growth without follicles, the growth and development of large follicles can reduce the early abortion rate; Patients with older age, less AFC, lower AMH, and lower initial dose of estrogen could be more likely to have unanticipated follicular development during endometrial preparation.


Assuntos
Aborto Espontâneo , Feminino , Gravidez , Humanos , Pontuação de Propensão , Estudos Retrospectivos , Transferência Embrionária , Estrogênios
6.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(7): 1032-1039, 2023 Jul 06.
Artigo em Chinês | MEDLINE | ID: mdl-37400219

RESUMO

Objective: To explore the risk intensity and related influencing factors of post-traumatic stress disorder (PTSD) among high-stress rescue workers, and to provide effective tools for the risk assessment of PTSD in military rescue workers. Method: From June to August 2022, cluster sampling was used to select the high-stress rescue personnel of an Army department as the survey subjects. The acute Stress reaction (ASD) scale and PTSD checklist were used to evaluate the risk of PTSD in military rescue personnel. Multivariate logistic regression were used to analyze the influencing factors of PTSD. Results: The age of 4 460 subjects was (24.38±4.072) years old, including 4 396 males (98.6%). The positive rate of initial screening for ASD was 2.85% (127/4 460). The positive rate of PTSD was 0.67% (30/4 460). Multivariate logistic regression model analysis showed that female, older age, recent trauma exposure history, passive smoking and alcohol consumption were at higher risk of ASD, the values of OR (95%CI) were 4.183 (1.819-9.618), 6.278 (1.363-28.912), 3.094 (1.500-6.379), 2.059 (1.298-3.267) and 2.607 (1.614-4.211), respectively; Lower education level was associated with lower risk of ASD, OR (95%CI) was 0.593 (0.359-0.978); People who are older, thinner, have a history of mental illness, and drink alcohol were at higher risk for PTSD, the values of OR (95%CI) were 20.144 (2.459-165.043), 10.287 (2.218-47.700), 91.104 (8.592-965.980) and 2.866 (1.144-7.180), respectively. Conclusion: Gender, age, education level, passive smoking, alcohol consumption, past history of mental illness and body mass index may be related to the potential risk of PTSD in rescue workers,passive smoking, alcohol consumption, and weight controlling should be focused on to reduce potential risks of PTSD.


Assuntos
Militares , Transtornos de Estresse Pós-Traumáticos , Poluição por Fumaça de Tabaco , Masculino , Humanos , Feminino , Adulto Jovem , Adulto , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Transtornos de Estresse Pós-Traumáticos/prevenção & controle , Medição de Risco , Consumo de Bebidas Alcoólicas
7.
Zhonghua Yi Xue Za Zhi ; 103(23): 1781-1786, 2023 Jun 20.
Artigo em Chinês | MEDLINE | ID: mdl-37305938

RESUMO

Objective: To investigate the clinical efficacy and safety of 125I seed implantation in the treatment of mediastinal lymph node metastasis of lung cancer. Methods: Clinical data of 36 patients who underwent CT-guided 125I seed implantation for mediastinal lymph node metastasis of lung cancer from August 2013 to April 2020 in three hospitals of the Northern radioactive particle implantation treatment collaboration group were retrospectively collected, including 24 males and 12 females, aged 46 to 84 years. Cox regression model was used to analyze the relationship between local control rate, survival rate and tumor stage, pathological type, postoperative D90, postoperative D100 and other variables, and to analyze the occurrence of complications. Results: The objective response rate of CT-guided 125I seed implantation in the treatment of mediastinal lymph node metastasis of lung cancer was 75% (27/36), the median control time was 12 months, the 1-year local control rate was 47.2% (17/36), and the median survival time was 17 months. The 1-year and 2-year survival rates were 61.1% (22/36) and 22.2% (8/36) respectively. Univariate analysis showed that in the treatment of mediastinal lymph node metastasis with CT-guided 125I implantation, factors related to local control included tumor stage (HR=5.246, 95%CI: 2.243-12.268, P<0.001), postoperative D90 (HR=0.191, 95%CI: 0.085-0.431, P<0.001), postoperative D100 (HR=0.240, 95%CI: 0.108-0.533, P<0.001); The factors affecting survival were tumor stage (HR=2.712, 95%CI: 1.356-5.425, P=0.005), postoperative D90 (HR=0.110, 95%CI: 0.041-0.294, P<0.001), postoperative D100 (HR=0.212, 95%CI: 0.092-0.489, P<0.001). Multivariate analysis showed that tumor stage (HR=5.305, 95%CI: 2.187-12.872, P<0.001) and postoperative D100 (HR=0.237, 95%CI: 0.099-0.568, P<0.001) were correlated with local control rate. Tumor stage (HR=2.347, 95%CI: 1.095-5.032, P=0.028) and postoperative D90 (HR=0.144, 95%CI: 0.051-0.410, P<0.001) were correlated with survival. In terms of complications, 9 of the 36 patients had pneumothorax, and 1 of them was cured by closed thoracic drainage for severe pneumothorax; 5 cases developed pulmonary hemorrhage and 5 cases developed hemoptysis, which recovered after hemostasis treatment. One case developed pulmonary infection and recovered after anti-inflammatory treatment. No radiation esophagitis and radiation pneumonia occurred; No grade 3 or higher complications occurred. Conclusion: 125I seed implantation in the treatment of lung cancer mediastinal lymph node metastasis has a high local control rate and controllable adverse effects.


Assuntos
Neoplasias Pulmonares , Pneumotórax , Feminino , Masculino , Humanos , Metástase Linfática , Estudos Retrospectivos , Resultado do Tratamento
8.
Zhonghua Xue Ye Xue Za Zhi ; 44(3): 193-201, 2023 Mar 14.
Artigo em Chinês | MEDLINE | ID: mdl-37356980

RESUMO

Objectives: To investigate the clinical and genetic features of young Chinese patients with myeloproliferative neoplasms (MPN). Methods: In this cross-sectional study, anonymous questionnaires were distributed to patients with MPN patients nationwide. The respondents were divided into 3 groups based on their age at diagnosis: young (≤40 years) , middle-aged (41-60 years) , and elderly (>60 years) . We compared the clinical and genetic characteristics of three groups of MPN patients. Results: 1727 assessable questionnaires were collected. There were 453 (26.2%) young respondents with MPNs, including 274 with essential thrombocythemia (ET) , 80 with polycythemia vera (PV) , and 99 with myelofibrosis. Among the young group, 178 (39.3%) were male, and the median age was 31 (18-40) years. In comparison to middle-aged and elderly respondents, young respondents with MPN were more likely to present with a higher proportion of unmarried status (all P<0.001) , a higher education level (all P<0.001) , less comorbidity (ies) , fewer medications (all P<0.001) , and low-risk stratification (all P<0.001) . Younger respondents experienced headache (ET, P<0.001; PV, P=0.007; MF, P=0.001) at diagnosis, had splenomegaly at diagnosis (PV, P<0.001) , and survey (ET, P=0.052; PV, P=0.063) . Younger respondents had fewer thrombotic events at diagnosis (ET, P<0.001; PV, P=0.011) and during the survey (ET, P<0.001; PV, P=0.003) . JAK2 mutations were found in fewer young people (ET, P<0.001; PV, P<0.001; MF, P=0.013) ; however, CALR mutations were found in more young people (ET, P<0.001; MF, P=0.015) . Furthermore, mutations in non-driver genes (ET, P=0.042; PV, P=0.043; MF, P=0.004) and high-molecular risk mutations (ET, P=0.024; PV, P=0.023; MF, P=0.001) were found in fewer young respondents. Conclusion: Compared with middle-aged and elderly patients, young patients with MPN had unique clinical and genetic characteristics.


Assuntos
Transtornos Mieloproliferativos , Policitemia Vera , Mielofibrose Primária , Trombocitemia Essencial , Idoso , Pessoa de Meia-Idade , Humanos , Masculino , Adolescente , Adulto , Feminino , Estudos Transversais , Transtornos Mieloproliferativos/genética , Policitemia Vera/genética , Mielofibrose Primária/genética , Trombocitemia Essencial/genética , Mutação , Janus Quinase 2/genética
9.
Zhonghua Wai Ke Za Zhi ; 60(9): 866-872, 2022 Sep 01.
Artigo em Chinês | MEDLINE | ID: mdl-36058714

RESUMO

Objective: To examine the influence of sacroiliac joint reduction quality on the clinical effect of bionic reduction and internal fixation for pelvic ring injury. Methods: From January 2014 to February 2019,the clinical data of 78 patients diagnosed with pelvic ring injury involving sacroiliac joints and treated with bionic reduction and internal fixation at Honghui Hospital Affiliated to Medical College of Xi'an Jiaotong University were retrospectively analyzed.There were 48 males and 30 females,aged (48.3±8.3)years (range:28 to 68 years).After bionic reduction and internal fixation,the patients were grouped according to the maximum displacement distance (d) of sacroiliac joint residual on the damaged side measured by CT examination. Patients with d≤5 mm were included in anatomical bionic reduction group,and patients with d>5 mm were included in non-anatomical bionic reduction group.In non-anatomical bionic reduction group,according to the direction of residual displacement,the patients were divided into separation displacement group and anterior-posterior displacement group. The X-ray examination was performed immediately and at the last follow-up after operation.If sacroiliac joint was relocated,or internal plant loosening,displacement,fracture and re-displacement of fracture,it was defined as internal fixation failure.Majeed pelvic fracture scoring system was used to evaluate the postoperative functional status of the two groups,and visual analogue scale (VAS) was used to evaluate the postoperative pain.Comparison between groups was performed by completely random design ANOVA,χ2 test,Fisher's exact test,Mann-Whitney U and Kruskal-Wallis H test. Results: According to the CT examination,28 cases were included in anatomical bionic reduction group,and 50 cases were included in non-anatomical bionic reduction group.In non-anatomical bionic reduction group,27 cases were divided into separation displacement group and 23 cases were in anterior-posterior displacement group.There was no significant difference in general data among anatomical bionic reduction group,separation displacement group and anterior-posterior displacement group (P>0.05). The follow-up time was (37.8±6.6) months (range:25 to 51 months). At the last follow up,the excellent and good rate of Majeed score in anatomical bionic reduction group was 96.4%(27/28),which was better than that in separation displacement group(74.1%(20/27)) and anterior-posterior displacement group (30.4%(7/23)),the difference was statistically significant (Z=-6.479,P<0.01;Z=-6.256,P<0.01); and the good rate of the separation displacement group was better than that of the anterior-posterior displacement group(Z=-3.607,P<0.01).The VAS of anatomical bionic reduction group (17 cases with 0 point, 11 cases with 1 to 3 points) were lower than that of the displacement group (6 cases with 0 point,16 cases with 1 to 3 points,5 cases with 4 to 6 points) and anterior-posterior displacement group (3 cases with 0 point,7 cases with 1 to 3 points,13 cases with 4 to 6 points),the difference was statistically significant (Z=-3.515,P<0.01;Z=-3.506,P<0.01),and there was no difference between separation displacement group and anterior-posterior displacement group.Total of 8 cases of internal fixation failure occurred,and the failure rate of anatomical bionic reduction group (0,0/28) was lower than that of the separation displacement group (11.1%,3/27) and anterior-posterior displacement group (21.7%,5/23) (P=0.111,P=0.014),and there was no difference between separation displacement group and anterior-posterior displacement group(P=0.444). Conclusions: In the bionic reduction and internal fixation of pelvic fracture involving sacroiliac joint injury,the functional status,pain and internal fixation failure rate of patients with anatomical bionic reduction of sacroiliac joint are significantly better than those in the non-anatomical bionic reduction.The functional recovery of patients with separation displacement is better than that of the patients with anterior and posterior displacement.


Assuntos
Fraturas Ósseas , Articulação Sacroilíaca , Biônica , Parafusos Ósseos , Feminino , Fixação Interna de Fraturas , Fraturas Ósseas/cirurgia , Humanos , Masculino , Estudos Retrospectivos , Articulação Sacroilíaca/lesões , Articulação Sacroilíaca/cirurgia
10.
Zhonghua Yi Xue Za Zhi ; 101(45): 3730-3735, 2021 Dec 07.
Artigo em Chinês | MEDLINE | ID: mdl-34856701

RESUMO

Objective: To explore the perioperative therapeutic effect of enhanced recovery after surgery (ERAS) in children with congenital spinal deformity and summarize the clinical experience. Methods: Fifty-nine pediatric patients with congenital spinal deformities admitted to Beijing Children's Hospital from May 2020 to January 2021 were included in this study, and all patients underwent posterior spinal osteotomy orthopedic implant fusion with internal fixation. There were 22 males and 37 females, aged (7.4±4.1) years. Patients were divided into ERAS group (n=29) and control group (n=30) according to the management model. Patients in the ERAS group were managed with an accelerated recovery management model during the perioperative period, which mainly included: high protein diet, shortened fasting time, optimized anesthesia protocol, and multimodal analgesia. Patients in the control group received the traditional perioperative management model. The indexes of surgery, diet, pain score and laboratory tests were compared between the two groups. Results: All patients completed the surgery successfully. The mean temperature and pain scores of patients in the ERAS group were lower than those in the control group at 3 days postoperatively (P<0.05). The time to exhaustion and defecation in the ERAS group was (1.0±0.8) d and (2.5±0.9) d postoperatively, both significantly earlier than those in the control group ((3.4±0.8) d and (4.0±1.1) d) (both P<0.05). C-reactive protein was 38(8,46) mg/L in patients of the ERAS group on the day 3 postoperatively, which was significantly lower than that in the control group 47(22,93) mg/L (P=0.023). The hemoglobin level on postoperative day 3 was (110.7±9.6) g/L in the ERAS group, which was significantly higher than that in the control group ((104.5±11.4) g/L) (P=0.029). Postoperative complications occurred in 8(27.6%) and 9(30.0%) patients in the ERAS and control groups, respectively (P=1.000), with mild abdominal pain and bloating being the most common complications in both groups, most of which were not treated specifically. Conclusion: ERAS is a safe and effective perioperative management mode for children with congenital spinal deformity. Compared with the traditional method, it can significantly improve the treatment efficiency and deserve clinical application.


Assuntos
Anestesia , Recuperação Pós-Cirúrgica Melhorada , Fusão Vertebral , Criança , Feminino , Humanos , Tempo de Internação , Masculino , Complicações Pós-Operatórias
11.
Zhonghua Xue Ye Xue Za Zhi ; 42(12): 985-992, 2021 Dec 14.
Artigo em Chinês | MEDLINE | ID: mdl-35045668

RESUMO

Objectives: To explore health-related quality of life (HRQoL) and identify its associated variables in Chinese patients with Philadelphia-negative myeloproliferative neoplasms (MPNs) . Methods: In this cross-sectional study, anonymous questionnaires were distributed to adult patients with MPNs to assess symptom burden measured by MPN-10 and HRQoL measured by Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36) and the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 (EORTC QLQ-C30) . Results: The data from 1405 respondents with MPNs, including 645 (45.9%) with essential thrombocythemia (ET) , 297 (21.1%) with polycythemia vera (PV) , and 463 (33.0%) with myelofibrosis (MF) , were analyzed. 646 (46.0%) respondents were male. The median age was 56 (range, 18-99) years. The mean MPN-10 scores were 13.0±12.7, 15.0±14.7, and 21.0±16.6 (P<0.001) , and the physical component summary (PCS) and mental component summary (MCS) scores were 48.0±8.5, 47.0±9.0, and 42.0±10.0 (P<0.001) and 51.0±11.0, 50.0±10.8, and 49.0±11.1 (P=0.002) for respondents with ET, PV, and MF, respectively. Respondents with MF reported the lowest score of physical functioning, role functioning, emotional functioning, cognitive functioning, social function, and global health status (all P<0.01) and the highest score of fatigue, pain, dyspnea, appetite loss, diarrhea, and financial problems (all P<0.05) in EORTC QLQ-C30. Multivariate analyses revealed that higher MPN-10 scores were significantly associated with lower PCS (-0.220 to -0.277, P<0.001) and MCS (-0.244 to -0.329, P<0.001) scores; increasing age (-1.923 to -4.869; all P<0.05) , lower PCS score. Additionally, comorbidity (ies) , symptom at diagnosis, splenomegaly, anemia, unknown driver gene, and higher annual out-of-pocket cost were significantly associated with lower PCS and/or MCS scores. However, age ≥ 60 years, urban household registration, concomitant medication, and receiving ruxolitinib therapy in respondents with MF were associated with higher MCS scores. Weak correlations were found between MPN-10 score (except the subscale of appetite loss and constipation) and EORTC QLQ-C30 score in majority of subscales in respondents with ET (|r| = 0.193-0.457, all P<0.001) , PV (|r| = 0.192-0.529, all P<0.01) , and MF (|r| = 0.180-0.488, all P<0.001) , respectively. Conclusions: HRQoL in patients with MPN was significantly reduced, especially in patients with MF. Sociodemographic and clinical variables were significantly associated with the HRQoL in patients with MPNs.


Assuntos
Transtornos Mieloproliferativos , Policitemia Vera , Adulto , China/epidemiologia , Estudos Transversais , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Inquéritos e Questionários
12.
Zhonghua Gan Zang Bing Za Zhi ; 28(11): 930-935, 2020 Nov 20.
Artigo em Chinês | MEDLINE | ID: mdl-33256278

RESUMO

Objective: To study the miR-100 expression levels in the tissues of hepatocellular carcinoma patients, and to further explore the correlation between miR-100 and the invasion and metastasis of hepatocellular carcinoma cells and its effect on patients' prognostic survival. Methods: Clinicopathological data of 70 cases that underwent hepatectomy from December 2013 to December 2016 in the Department of Hepatobiliary and Pancreatic Surgery of Henan Provincial People's Hospital were retrospectively analyzed. Real-time fluorescent quantitative PCR was used to detect the different miR-100 expression levels in cancerous and adjacent tissues. The expression of miR-100 with different clinicopathological features was compared, and the prognostic factors of patients with hepatocellular carcinoma were comprehensively analyzed. The correlation between miR-100 and patients' clinicopathological features was tested by χ(2). Kaplan-Meier method was used to draw the survival curve. Log-rank test was used to examine the survival rate difference in each subgroup. Cox regression model was used to analyze the multivariate prognosis. Results: miR-100 expression was down-regulated to a different degree in hepatocellular carcinoma tissues than the corresponding adjacent tissues. Among them, the down-regulated expression of miR-100 in hepatocellular carcinoma tissues accounted for 82.9% (58/70, P < 0.05) of all cases when compared to corresponding paracancerous tissues. miR-100 expression level was significantly correlated to high Edmondson's grade, high TNM stage and intrahepatic metastasis (P < 0.05). The overall survival time of miR-100 positive expression was significantly higher than that of miR-100 negative expression (Log-rank χ(2) = 8.257, P < 0.05). Univariate survival analysis results revealed that the miR-100 expression level, tumor size, TNM stage, Edmondson's grade, and presence or absence of venous tumor thrombosis had a poor prognosis (P < 0.05). Cox multivariate regression analysis showed that the tumor size, Edmondson's grade, and miR-100 expression level were independent factors affecting the prognostic survival in hepatocellular carcinoma patients. In addition, patients with low positive expression rate of miR-100, large tumors and high Edmondson's grade had a poor prognosis. Conclusion: The level of miR-100 expression in hepatocellular carcinoma cells is low, so it is closely related to the invasion and metastasis and affects the prognostic survival of hepatocellular carcinoma patients.


Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , MicroRNAs , Biomarcadores Tumorais , Carcinoma Hepatocelular/genética , Regulação Neoplásica da Expressão Gênica , Humanos , Estimativa de Kaplan-Meier , Neoplasias Hepáticas/genética , MicroRNAs/genética , Prognóstico , Modelos de Riscos Proporcionais , Estudos Retrospectivos
13.
Zhonghua Gan Zang Bing Za Zhi ; 28(5): 416-420, 2020 May 20.
Artigo em Chinês | MEDLINE | ID: mdl-32536058

RESUMO

Objective: To study the effect of sorafenib and prophylactic transarterial chemoembolization (TACE) for prevention of postoperative relapse in patients with liver cancer combined with microvascular invasion (MVI) after using radical hepatectomy. Methods: A retrospective analysis was performed on 137 cases that underwent radical hepatectomy at the First Affiliated Hospital of Zhengzhou University from August 2015 to January 2018. Clinical data of liver cancer patients with MVI were diagnosed by postoperative pathology. General data of the three groups were analyzed. Kaplan-Meier was used to calculate the tumor-free survival rate. COX proportional hazards-model was used to analyze the independent risk factors for postoperative recurrence of liver cancer with MVI recurrence. Counting data was compared by x(2) test between groups, and log-rank test was used to compare the tumor-free survival rates. Results: A, B, and C groups had 49, 36, and 52 cases, respectively. General clinicopathological data of the three groups were not statistically significant. The postoperative tumor-free survival rates at 1-, 2-, and 3-years were 71.4%, 51.0%, 38.8%, 86.1%, 75.0%, 66.7%, and 82.7%, 75.0%, and 59.6% respectively in A, B, and C groups. Multivariate Cox proportional-hazards regression model showed that patients' age (HR = 0.622, P = 0.046), maximum tumor diameter (HR = 1.661, P = 0.033), prophylactic TACE (HR = 0.544, P = 0.019), and postoperative use of sorafenib (HR = 0.419, 0.222, 0.791, P = 0.007) were independent risk factors for postoperative recurrence of liver cancer with MVI. Conclusion: Sorafenib or prophylactic TACE use can significantly reduce the recurrence rate within 3 years after radical surgery in patients with liver cancer who were confirmed to have MVI by postoperative pathology.


Assuntos
Antineoplásicos , Carcinoma Hepatocelular , Quimioembolização Terapêutica , Neoplasias Hepáticas , Sorafenibe , Antineoplásicos/farmacologia , Antineoplásicos/uso terapêutico , Carcinoma Hepatocelular/tratamento farmacológico , Carcinoma Hepatocelular/cirurgia , Hepatectomia , Humanos , Neoplasias Hepáticas/tratamento farmacológico , Neoplasias Hepáticas/cirurgia , Invasividade Neoplásica , Recidiva Local de Neoplasia/prevenção & controle , Estudos Retrospectivos , Sorafenibe/farmacologia , Sorafenibe/uso terapêutico , Resultado do Tratamento
14.
Eur Rev Med Pharmacol Sci ; 24(1): 434-443, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31957858

RESUMO

OBJECTIVE: By establishing osteoporosis (OP) model in rats, the specific regulatory effect of simvastatin on promoting the differentiation of mesenchymal stem cells (MSCs) into osteoblasts through the bone morphogenetic protein 2 (BMP-2)/Smads signaling pathway was investigated. MATERIALS AND METHODS: A total of 45 Sprague-Dawley rats were selected to establish the OP model by performing ovariectomy. The rats were divided into OP model group (OP group, n=15), 10-7 mmol/L simvastatin treatment group (SIM group, n=15), and normal control group (Control group, n=15). After the experimental period, the enzyme-linked immunosorbent assay (ELISA) was applied to observe the serum levels of tumor necrosis factor-alpha (TNF-α), interleukin-6 (IL-6), and IL-1. Reverse Transcription-Polymerase Chain Reaction (RT-PCR) was adopted to detect the contents of the differentiation-associated genes [runt-related transcription factor 2 (RUNX2) and Osterix (Osx)]. Later, the bone marrow MSCs (BMSCs) were selected and divided into Control group, 10-7 mol/L simvastatin group (SIM group), and osteoinduction medium group (OM group). Cell morphology in each group was observed. The Cell Counting Kit-8 (CCK-8) was performed to determine the proliferation activity of BMSCs. ELISA was performed to measure the level of alkaline phosphatase (ALP). RT-PCR was conducted to examine the levels of key differentiation-associated gene RUNX2 and those in BMP-2/Smads pathway. Moreover, the Western blotting was adopted to analyze the expressions of RUNX2 and genes in BMP-2/Smads pathway. RESULTS: The serum levels of TNF-α, IL-6, and IL-1 in OP group were remarkably higher than those in the Control group, and their levels in the SIM group were close to those in the Control group. The elevated messenger ribonucleic acid (mRNA) levels of the key differentiation-associated factors RUNX2, osteoprotegerin (OPG), osteopontin (OPN), and Osx were observed in the SIM group. In vitro cell culture revealed that the cells were in a favorable growth status in the SIM group and OM group, mostly manifesting in fusiform or spindle shape, and proliferated rapidly. In addition, the ALP level notably increased in the two groups compared with that in the Control group (p<0.05). Both SIM group and OM group had evidently higher mRNA expression levels of RUNX2, OPG, OPN, and Osx than those in the Control group (p<0.05), consistent with the expression trends of the genes in BMP-2/Smads pathway. The Western blotting indicated that the expression levels of RUNX2 and genes in BMP-2/Smads pathway in the SIM group were significantly higher than those in the Control group. CONCLUSIONS: Simvastatin can promote the differentiation of MSCs into osteoblasts in the OP rat model through the BMP-2/Smads signaling pathway.


Assuntos
Proteína Morfogenética Óssea 2/metabolismo , Hipolipemiantes/farmacologia , Osteogênese/efeitos dos fármacos , Osteoporose/tratamento farmacológico , Sinvastatina/farmacologia , Proteínas Smad/metabolismo , Animais , Proteína Morfogenética Óssea 2/genética , Diferenciação Celular/efeitos dos fármacos , Células Cultivadas , Modelos Animais de Doenças , Células-Tronco Mesenquimais/efeitos dos fármacos , Células-Tronco Mesenquimais/metabolismo , Osteoporose/metabolismo , Osteoporose/patologia , Ratos , Ratos Sprague-Dawley , Transdução de Sinais/efeitos dos fármacos , Proteínas Smad/genética
15.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 54(12): 881-887, 2019 Dec 07.
Artigo em Chinês | MEDLINE | ID: mdl-31887812

RESUMO

Objective: To screen, diagnose and follow up the abnormal mutation in the gene screening of neonatal deafness. Methods: A total of 24161 newborns born in Zhuhai Maternal and Child Health Hospital from February 1, 2015 to January 31, 2008 were screened for hearing and deafness genes, and audiological screening, diagnosis and 1-3 years follow-up were carried out for the newborns with positive gene screening. Results: There were 991 cases of deafness gene mutation (533 males and 458 females), and the rate of abnormal mutation was 4.10%(991/24 161). Among them, 921 cases were single heterozygous mutation, 130 cases were failed in primary hearing screening, 11 cases were failed in secondary hearing screening, 8 cases were abnormal in audiological diagnosis finally. In these 8 cases, 3 were diagnosed as otitis media and passed audiological follow-up after cure, 2 cases of single ear sensorineural injury caused by high-risk factors, passed after close audiological follow-up, and the other 3 cases were closely audiological follow-up while none of them were successfully sequenced. All of them were moderate to severe sensorineural deafness, 1 case was heterozygous mutation at 3 loci of GJB2(c.235delC,c.408C>A,c.134G>A), 1 case was heterozygous mutation at 2 loci of GJB2(c.235delC, c.109G>A), and 1 case was single heterozygous mutation of GJB2(c.235delC). The remaining 913 cases who passed the primary screening, secondary screening or hearing diagnosis were followed up for 1 to 3 years. Three cases of multiple heterozygous mutation were found in gene screening(2 cases were SLC26A4 2168A>G, IVS7-2A>G, 1 case was GJB2 c.176_191del 16bp, c.299_300del AT), all of them passed both primary and secondary hearing screening. In these 3 cases, the final audiological diagnosis was moderate sensorineural deafness in both ears, with no improvement in the follow-up of 1-3 years. There were 9 monogenic homozygous mutations, 7 failed in primary hearing screening, 3 failed in secondary hearing screening and also failed in audiological diagnosis and 1-3 years' audiological follow-up, all of whom were GJB2 c.235 del C homozygous mutations, and one of whom had a definite family history of deafness. The remaining 6 cases of homozygous mutation diagnosed by primary screening, secondary screening or hearing diagnosis were GJB2 c109G>A homozygous mutation, and passed the 1-3 years' hearing follow-up. 58 children with mtDNA mutations, including 2 with 12S rRNA 1494C>T homozygous mutation, 47 with 1555A>G homozygous mutation, and 9 with 1555A>G heterozygous mutation, all passed the primary or secondary hearing screening, and were instructed to ban ototoxic drugs for the whole life, and passed the 1-3 years' hearing follow-up. Conclusions: The audiological follow-up of children with monogenic heterozygous mutations in deafness gene screening is generally normal. In case of abnormality, the influencing factors such as otitis media should be excluded at first. In case of unexplained moderate to severe sensorineural deafness, the whole-gene sequencing should be performed to find possible pathogenic factors. The children with homozygous mutation or compound heterozygous mutation in gene screening, most of whom show different degrees of hearing loss, should be followed up for a long time, and provide parents with scientific and reasonable genetic counseling according to the mutation genes and loci,. The hearing of drug-induced deafness gene carriers is normal after birth. Parents should be advised to strengthen prevention and follow-up is generally enough.


Assuntos
Análise Mutacional de DNA , Surdez , Perda Auditiva , Pré-Escolar , China , Conexina 26 , Conexinas , Feminino , Seguimentos , Testes Genéticos , Perda Auditiva/diagnóstico , Perda Auditiva/genética , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Triagem Neonatal
16.
J Phys Condens Matter ; 31(29): 295003, 2019 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-30974416

RESUMO

It is well documented that minor rare-earth can improve interfacial adherence of oxide films to passive metallic substrates. However, such benefit vanishes when the amount of rare-earth increases. The mechanism for such a change has never been well clarified. This article reports our ab initio calculations to investigate the role that yttrium plays in promoting the interfacial adherence of Al oxide film to Al substrate. Influences of Y3+-ions on Al2O3/Al interfacial bonding, strength of Y-doped Al2O3 layer and that of Y-contained Al substrate were analyzed. Efforts are made to elucidate the beneficial effect of minor yttrium on the interfacial bonding and how an opposite effect is caused as the amount of yttrium increases.

17.
Ann Oncol ; 30(6): 953-962, 2019 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-30887045

RESUMO

BACKGROUND: Somatic mutations of mitochondrial DNA (mtDNA) have been extensively identified mainly by traditional Sanger sequencing technology in various cancer types. However, low detection sensitivity of traditional methods greatly limits the comprehensive profiling of mtDNA somatic mutations in cancers, especially in hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC). Moreover, the functional roles of mtDNA mutation in HBV-related hepatocarcinogenesis have not been systematically revealed. PATIENTS AND METHODS: Next-generation sequencing (NGS) platform was applied to profile the somatic mtDNA mutations of HCC and paired paratumor (non-HCC) tissues from a large cohort of 156 HBV-HCC patients. RESULTS: Our data revealed the common existence of mtDNA mutation in both inflammatory and cancer tissues with significantly different mutation pattern. The mutation density (mutation number/region length) of D-loop region was much higher than that of other regions in both HCC and non-HCC tissues. Unexpectedly, the average mutation number in D-loop region of HCC tissues was significantly less than that of non-HCC tissues. In contrast, the heteroplasmy level of D-loop region mutations was significantly increased in HCC tissues, implying that the D-loop mutations might be positively selected in HCC tissues. Furthermore, our results indicated that the patients with D-loop mutations had a significantly lower mtDNA copy number and were more likely to relapse. In vitro experiments demonstrated that proliferation, invasion and metastasis ability of HCC cells with D-loop region mutations were significantly higher than those without D-loop region mutations. CONCLUSION: These results emphasize the critical contributing role of somatic mtDNA D-loop mutations in HBV-related hepatocarcinogenesis.


Assuntos
Carcinoma Hepatocelular/genética , Carcinoma Hepatocelular/virologia , DNA Mitocondrial/genética , Vírus da Hepatite B/isolamento & purificação , Hepatite B/genética , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/virologia , Mutação , Carcinogênese/genética , Carcinoma Hepatocelular/patologia , Seguimentos , Hepatite B/patologia , Hepatite B/virologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Neoplasias Hepáticas/patologia , Prognóstico , Taxa de Sobrevida
18.
Artigo em Chinês | MEDLINE | ID: mdl-30813698

RESUMO

Objective:To synchronously perform external auricle examination during neonatal hearing screening, follow up auricle deformity with neonatal disease screening system, and calculate the incidence of auricle deformity, self-healing rate, correction rate, incidence of complications and the relationship with hearing loss in Zhuhai area. Method:According to the diagnostic criteria of auricle deformity, the newborns in Zhuhai Maternal and Child Health Hospital were examined on the spot within 2 months. The deformity auricle was registered and uploaded into the newborn hearing screening system. The newborns were followed up by short message notification 7 days after birth, and then compared with the photo uploading system again. At 14 days, the ears of those who could not self-heal were went on non-invasive correction, and collect of relevant data for summary analysis. Result:Among the 1 073 newborns(2 146 ears), 26(37 ears) with malformed ears were treated with auricular pattern correction.The corrective rates of newborns less than 14 days, 14-30 days and 31-60 days were 95%, 90% and 87% respectively, and the incidence of complications were 50%, 58% and 69%, respectively. Conclusion:The incidence of auricular deformities in neonates is high. The earlier correction the better. The ear deformity can be detected at the earliest stage and missed diagnosis can be avoided by simultaneous hearing screening and ear deformity screening. During the window period of 7-14 d, by monitoring the self-healing rate of the affected ear excessive medical correction can be avoided. By hearing screening system statistics, ear shape malformation is not directly related to hearing loss.


Assuntos
Pavilhão Auricular , Perda Auditiva , Pavilhão Auricular/anormalidades , Orelha Externa , Perda Auditiva/diagnóstico , Perda Auditiva/etiologia , Testes Auditivos , Humanos , Recém-Nascido , Triagem Neonatal
19.
Artigo em Chinês | MEDLINE | ID: mdl-31914302

RESUMO

Objective:To analyze the hearing assessment characteristics and follow-up of some deafness gene screening homozygous infants in Zhuhai. Method:The clinical data of 28 newborns with homozygous mutations transferred to Zhuhai Maternal and Child Health Hospital from Feb. 1, 2015 to Oct. 25, 2018 in hospitals of Zhuhai City were retrospectively analyzed. All the children were screened for hearing. The hearing characteristics and long-term follow-up results of homozygous mutations at different gene sites were analyzed by auditory diagnosis and behavioral follow-up from 1 to 3 years. Result:Fourteen cases of GJB2 c.109G>A with a homozygous mutation, 11 cases passed the hearing screening, the audiological diagnosis was normal, and the behavior test and follow-up were normal from 1 to 3 years. Hearing screening was not passed in 3 newborns, mild to moderate abnormalities of single or bilateral ears were diagnosed by audiology, 1 000 Hz without positive, and middle ear lesions were diagnosed. Eight cases of GJB2 c.235del C homozygous mutation were followed up by behavioral audiometry and follow-up from 1 to 3 years after cure. Among them, 5 cases were diagnosed as severe hearing impairment of bilateral ears and 3 cases as mild and moderate hearing impairment. One case of GJB3 547G>A homozygous mutation was followed up for 1-3 years, and all of them failed to pass the follow-up of behavioral audiometry and follow-up. Four cases of SLC26A4 IVS7-2A>G, 1 case of SLC26A4 1229C>T homozygous mutation, all of them failed to pass the neonatal hearing screening. All the patients were diagnosed as severe hearing impairment of binaural hearing, and the follow-up of 1-3 years' follow-up did not pass the follow-up tests. Conclusion:GJB2 C.235del C, SLC26A4 IVS7-2A>G locus homozygous mutation infant hearing impairment was mainly severe hearing impairment in bilateral ears, and there was no change in 1-3 years follow-up. GJB2 C.109G A homozygous mutant infants had normal hearing, and it was suggested that they should be followed up closely. It is very important to give correct and reasonable genetic counseling to parents with GJB2 C.109G A homozygous mutation without unnecessary panic.


Assuntos
Conexinas , Surdez , Criança , Seguimentos , Humanos , Lactente , Recém-Nascido , Mutação , Estudos Retrospectivos
20.
Zhonghua Gan Zang Bing Za Zhi ; 27(11): 879-884, 2019 Nov 20.
Artigo em Chinês | MEDLINE | ID: mdl-31941243

RESUMO

Objective: To study the relationship between the expressions of tuftelin 1 (TUFT1) and the clinicopathological features of hepatocellular carcinoma and its effect on proliferation and apoptosis, and to explore the relationship between TUFT1 with the development of hepatocellular carcinoma. Methods: Immunohistochemistry was used to detect the expression of TUFT1 in 98 cases of hepatocellular carcinoma and 30 cases of adjacent normal tissues. Quantitative real-time PCR (qRT-PCR) was used to detect the expression of TUFT1 in HCC cell line. The expression of TUFT1 in SMMC-7221 cell lines was down-regulated by lentiviral vector. Cell proliferation assay, clonogenic assay, cell apoptosis assay and cell cycle assay were used to detect proliferation, apoptosis, and cell cycle changes of hepatocarcinoma cells after TUFT1-down-regulation. Statistics were performed using the χ2 test and the t-test. Results: Among the 98 cases of hepatocellular carcinoma, 65 cases (66.33%) were positive for TUFT1, and in 30 cases of adjacent normal tissues, 6 cases (16.67%) were positive for TUFT1, and the difference was statistically significant (χ (2) = 19.956, P < 0.05). The expression of TUFT1 in HCC tissues was related to tumor size, tumor stage, recurrence and metastasis (χ(2) = 6.214, 8.066, 14.400, P < 0.05). After lentiviral vector mediated downregulation of TUFT1 expression in SMMC -7221 cells, the cell proliferation rate [(18.62% ± 0.15%) vs. (67.91% ± 0.62%), P < 0.05], clonality [(8.10% ± 0.80%) vs. (50.80% ± 1.60%), P < 0.05] and G1 phase cells [(36.71% ± 0.69%) vs. (44.65% ± 0.73%), P < 0.05] were significantly decreased, whereas the G2 phase cells [ (15.44% ± 0.53%) vs. (22.31% ± 0.20%), P < 0.05] and the rate of apoptosis [(3.45% ± 0.18%) vs. (5.45% ± 0.06%), P < 0.05] was significantly increased compared with the control group of HCC cells, and the differences were statistically significant. Conclusion: The expression of TUFT1 is highly expressed in hepatocellular carcinoma tissues. Furthermore, the expression of TUFT1 promotes HCC cell proliferation, inhibits the apoptosis, and is poor prognostic factor of hepatocellular carcinoma.


Assuntos
Carcinoma Hepatocelular/genética , Proliferação de Células/genética , Proteínas do Esmalte Dentário/genética , Regulação Neoplásica da Expressão Gênica/genética , Neoplasias Hepáticas/genética , Apoptose , Carcinoma Hepatocelular/patologia , Linhagem Celular , Linhagem Celular Tumoral , Células Hep G2 , Humanos , Neoplasias Hepáticas/patologia , Recidiva Local de Neoplasia , Prognóstico , Reação em Cadeia da Polimerase Via Transcriptase Reversa
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