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1.
Chinese Journal of Pathology ; (12): 147-152, 2023.
Artigo em Chinês | WPRIM | ID: wpr-970149

RESUMO

Objective: To investigate the clinicopathological features, diagnosis and differential diagnosis of pediatric myofibroma/myofibromatosis of the soft tissue and bone. Methods: All cases of pediatric myofibroma/myofibromatosis of the soft tissue and bone diagnosed between January 2011 and December 2018 were retrieved from the surgical pathology records in the Department of Pathology, Beijing Jishuitan Hospital, Beijing, China. Clinical and radiological data were collected. H&E and immunohistochemistry were used to examine histological and immunophenotypic features and to make the diagnosis and differential diagnosis. The relevant literature was also reviewed. Results: Twenty-eight cases of pediatric myofibroma/myofibromatosis of the soft tissue and bone were respectively collected. The patients' ages ranged from 2 months to 14 years, with a mean age of 7 years. There were 7 females and 21 males. There were 12 cases located in soft tissue, including the finger (n=9), upper arm (n=1) and foot (n=2). There were 14 cases located in the bone of limb, including the femur (n=8), tibia (n=4), clavicle (n=2), fibula (n=2) and radius (n=1). There were 2 cases of myofibromatosis involving multiple bones. Radiology showed lytic lesions in the bone. The proliferation of spindle-shaped myofibroblasts arranged in fascicles with indistinct eosinophilic cytoplasm and bland nuclei, with no pleomorphism and cytological atypia. The characteristic histologic structure was the biphasic nodular growth pattern with cellular and paucicellular regions. The tumors might arrange in a hemangiopericytoma-like pattern. The stroma varied between dense fibrosis and myxoid changes. The reactive new bone formation and inflammatory cell infiltration also existed. Immunohistochemical study showed that the SMA was positive. The surgical resections were performed. One of the patients had tumor recurrence as a result of 11-month follow-up. Conclusions: The pediatric myofibroma/myofibromatosis of the soft tissue and bone is a very rare benign tumor and has a good prognosis. It has a characteristic morphology and its differential diagnosis from other spindle cell tumors could be made with the immunohistochemical analysis.


Assuntos
Criança , Feminino , Humanos , Lactente , Masculino , Pré-Escolar , Adolescente , Osso e Ossos/patologia , Diagnóstico Diferencial , Leiomioma , Miofibroma/diagnóstico , Miofibromatose/diagnóstico
2.
Chinese Acupuncture & Moxibustion ; (12): 282-286, 2023.
Artigo em Chinês | WPRIM | ID: wpr-969985

RESUMO

OBJECTIVE@#To evaluate the effect of transcutaneous acupoint electrical stimulation (TEAS) at Neiguan (PC 6) on general anesthesia under preserving spontaneous breathing in thoracoscopic lobectomy.@*METHODS@#A total of 66 patients of primary lung cancer undergoing thoracoscopic lobectomy were divided to an observation group (33 cases, 1 case discontinued) and a control group (33 cases). In the observation group, TEAS at Neiguan (PC 6) was used 30 min before anesthesia induction till the end of surgery. The surgery time, maximum value of partial pressure of end-tidal carbon dioxide (PETCO2) and minimum value of oxygen saturation (SpO2) of the two groups were recorded. The dosage of propofol, sufentanil, remifentanil and dexmedetomidine were analyzed. Separately, before induction (T0), at the start of surgery (T1), thoracic exploration (T2) and lobectomy (T3), as well as 30 min (T4) and 60 min (T5) after lobectomy, the mean arterial pressure (MAP), heart rate (HR), respiratory rate (RR), serum cortisol (Cor) and norepinephrine (NE) were measured. The time of post anesthesia care unit (PACU) stay, ambulation, flatus, chest drainage and the incidence of nausea and vomiting were compared between the two groups.@*RESULTS@#The maximum value of PETCO2, the dosage of propofol and remifentanil in the observation group were lower than those in the control group (P < 0.05, P < 0.01), the minimum value of SpO2 in the observation group was higher than that of the control group (P < 0.01). At T1-T5, the MAP, HR, serum Cor and NE levels in the observation group were all lower than those in the control group (P < 0.05). The ambulation time, the time for the flatus, chest drainage time, and the incidence of nausea and vomiting in the observation group were all lower than those in the control group (P<0.001, P < 0.01).@*CONCLUSION@#For the general anesthesia under preserving spontaneous breathing in thoracoscopic surgery, TEAS at Neiguan (PC 6) relieves stress response, reduces opioids dosage and promotes postoperative recovery.


Assuntos
Humanos , Pontos de Acupuntura , Dióxido de Carbono , Flatulência , Propofol , Remifentanil , Anestesia Geral , Náusea , Norepinefrina , Estimulação Elétrica
3.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 397-401, 2023.
Artigo em Chinês | WPRIM | ID: wpr-995207

RESUMO

Objective:To observe any effect of combining low-frequency transcranial magnetic stimulation (rTMS) with interactive virtual scenario training on the recovery of upper limb motor function after a stroke.Methods:Ninety stroke survivors were randomly divided into a pseudo-rTMS group, an rTMS group and a combination group, each of 30. In addition to basic medication, conventional rehabilitation and nursing care, the pseudo-rTMS, rTMS and combination groups received either sham rTMS treatment, 1Hz rTMS or virtual situational interaction along with 1Hz rTMS 5 days a week for 4 weeks. Before and after the 4 weeks their motor evoked potentials, cortical latency and central motor conduction time were measured, and surface electromyography was applied to the affected biceps brachii and triceps brachii. Meanwhile, the National Institutes of Health Stroke Scale, the Fugl-Meyer upper extremity assessment and the modified Barthel index were employed to assess the degree of neurological deficit, upper extremity motor function and ability in the activities of daily living (ADL).Results:After the 4-week intervention, a significant improvement was observed in all of the outcome measurements with all three groups. At that time the average scores of the rTMS group were significantly better than the pseudo-rTMS group′s averages but the average scores of the combination group were significantly better than those of either of the other two groups.Conclusion:Repeated application of low-frequency transcranial magnetic stimulation combined with virtual scenario interactive training can effectively improve the upper limb motor function and ADL performance of stroke survivors, and relieve the symptoms of neurological deficit. The combined therapy is worthy of application in clinical practice.

4.
Chinese Journal of Practical Nursing ; (36): 1224-1229, 2023.
Artigo em Chinês | WPRIM | ID: wpr-990322

RESUMO

Objective:To explore the relationship of infertility-related stress and depression of infertility women, and the effect of coping style and resilience in it.Methods:A cross sectional study was conducted in 230 infertility women who treated with Assisted Reproductive Technology in Reproductive Medical Center of the First Affiliated Hospital of Soochow University using convenience sampling method from April 2020 to April 2021 with self-made general information questionnaire, Fertility Problem Inventory, Simplified Coping Style Questionnaire, 10-item Connor-Davidson Resilience Scale and Patients' Health Questionnaire Depression Scale-9 item. And correlation and effect analysis was conducted.Results:Two hundred and nineteen questionnaires were finally collected, the effective recovery rate was 95.2%(219/230). The score of Fertility Problem Inventory was (136.21 ± 27.38) points, the score of Simplified Coping Style Questionnaire was (34.26 ± 7.66) points, the score of 10-item Connor-Davidson Resilience Scale was (27.50 ± 6.78) points, the score of Patients' Health Questionnaire Depression Scale-9 item was (4.26 ± 3.83) points. Correlation analysis results showed that infertility-related stress of infertility women was positively correlated with negative coping ( r=0.20, P<0.01) and depression ( r=0.26, P<0.01), negative coping was positively correlated with depression ( r=0.23, P<0.01). Effect analysis results showed that negative coping had a partial mediating effect between infertility-related stress and depression, and the mediating effect size was 0.05, accounting for 15.63% of the total effects. Resilience moderated the second half path of the mediation relationship ( β=-0.137, t=-2.11, P<0.05). Conclusions:The infertility-related stress is a positive predictor of depression. Negative coping has a mediating effect between infertility-related stress and depression, and resilience moderates the effect of negative coping on depression.

5.
International Journal of Traditional Chinese Medicine ; (6): 953-958, 2023.
Artigo em Chinês | WPRIM | ID: wpr-989726

RESUMO

Objective:To investigate the effects of Tiaogan Lifei Decoction on the level of symptom control in patients with bronchial asthma (asthma) treated with moderate and high dosage inhaled glucocorticoids (ICS).Methods:Randomized double-blind placebo controlled prospective study was used. Totally 90 patients with asthma (liver lung disharmony, wind phlegm blocking collateral syndrome) using moderate and high dosage ICS who met the inclusion criteria from January 2020 to December 2021 in Chaoyang District Hospital of Traditional Chinese Medicine in Beijing were divided into two groups according to random number table method, with 45 cases in each group. On the basis of using the original dosage of ICS, the treatment group used Tiaogan Lifei Decoction, while the control group used Tiaogan Lifei Decoction simulant. The course of treatment was 12 weeks. TCM symptom score of both group before and after the treatment was detected; asthma control test (ACT) was used to assess the effects of asthma on the patients; St George's Hospital Respiratory Questionnaire (SGRQ) was used to assess patients' quality of life; the peak expiratory flow rate (PEF) was measured with a peak expiratory flow meter. 2 ml of venous blood was collected for eosinophil (EOS) detection, and the serum allergen specific IgE level was determined by ELISA. The adverse reactions were observed during the treatment and the clinical efficacy was evaluated.Results:During the test, 3 cases and 2 cases in the treatment group and control group lost prevention respectively. 3 cases in the treatment group and 6 cases in the control group withdrew from the trial because of the aggravation of symptoms and the need to increase the dosage of ICS. The total effective rate in the treatment group was 78.6% (33/42), and that in the control group was 55.8% (24/43), with statistical significance ( χ2=4.98, P=0.026). After treatment, the scores of daily activities, early awakening, control and total scores in the treatment group were higher than those in the control group ( t values were 1.76, 1.99, 2.00, 2.69, respectively, P<0.01 or P<0.05); after treatment, the scores of cough, chest tightness, active wheezing, upset, pharyngeal itch and total score in the treatment group were lower than those in the control group ( t values were -5.89, -6.01, -5.66, -4.27, -6.67, -9.05, respectively, P<0.01); SGRQ score in the treatment group was lower than that of the control group ( t=-7.19, P<0.01). No serious adverse reactions occurred during treatment in the two groups. Conclusion:Tiaogan Lifei Decoction is helpful to improve the symptom control level of asthma patients who are using ICS, and effectively improve the quality of life of patients with asthma of liver lung disharmony and wind phlegm obstructing collaterals syndrome.

6.
Chinese Medical Journal ; (24): 2931-2937, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1007731

RESUMO

BACKGROUND@#This study aimed to determine the reasons for conversion and elucidate the safety and efficacy of transition to tenofovir alafenamide/emtricitabine/bictegravir sodium (TAF/FTC/BIC) in highly active antiretroviral therapy (HAART)-experienced HIV-infected patients in real-world settings.@*METHODS@#We conducted a retrospective cohort study. The treatment conversion rationales, safety, and effectiveness in 1684 HIV-infected patients with previous HAART experience who switched to TAF/FTC/BIC were evaluated at Beijing Ditan Hospital from September 2021 to Auguest 2022.@*RESULTS@#Regimen simplification (990/1684, 58.79%) was the most common reason for switching, followed by osteoporosis or osteopenia (375/1684, 22.27%), liver dysfunction (231/1684, 13.72%), decline in tenofovir alafenamide/emtricitabine/elvitegravir/cobicistat (TAF/FTC/EVG/c) with food restriction (215/1684, 12.77%), virological failure (116/1684, 6.89%), and renal dysfunction (90/1684, 5.34%). In patients receiving non-nucleotide reverse transcriptase inhibitors (NNRTI)-containing regimens, lipid panel changes 1 year after switching indicated a difference of 3.27 ± 1.10 mmol/L vs . 3.40 ± 1.59 mmol/L in triglyceride ( P  = 0.014), 4.82 ± 0.74 mmol/L vs . 4.88 ± 0.72 mmol/L in total cholesterol ( P  = 0.038), 3.09 ± 0.70 mmol/L vs . 3.18 ± 0.66 mmol/L in low-density lipoprotein ( P  <0.001), and 0.99 ± 0.11 mmol/L vs . 0.95 ± 0.10 mmol/L in high-density lipoprotein ( P  <0.001). Conversely, among patients receiving booster-containing regimens, including TAF/FTC/EVG/c and lopinavir/ritonavir (LPV/r), lipid panel changes presented decreased trends. We also observed an improved trend in viral load suppression, and alanine transaminase (ALT), aspartate transaminase (AST), estimated glomerular filtration rate (eGFR), and serum creatinine levels after the transition ( P  <0.001).@*CONCLUSION@#The transition to TAF/FTC/BIC demonstrated good treatment potency. Furthermore, this study elucidates the motivations behind the adoption of TAF/FTC/BIC in real-world scenarios, providing clinical evidence supporting the stable conversion to TAF/FTC/BIC for HAART-experienced patients.


Assuntos
Humanos , Terapia Antirretroviral de Alta Atividade/efeitos adversos , Fármacos Anti-HIV/efeitos adversos , Infecções por HIV/tratamento farmacológico , Tenofovir/uso terapêutico , Estudos Retrospectivos , Emtricitabina/farmacologia , Adenina/uso terapêutico , Lipídeos
7.
Chinese Journal of Pathology ; (12): 995-1000, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1012352

RESUMO

Objective: To investigate the clinical, imaging, histological, and molecular features and the differential diagnosis of radiation-associated sarcomas of bone and soft tissue. Methods: Forty-six cases of radiation-associated sarcomas of the bone and soft tissue in Beijing Jishuitan Hospital from January 2010 to January 2022 were retrospectively analyzed; and the imaging, histological features and immunophenotype were examined. Results: There were 33 females and 13 males, aged from 18 to 74 years, with a mean of 52 years. The most common site of radiation-associated sarcomas were the limbs and spine (15 cases), followed by the chest (9 cases). The primary diseases included epithelial tumors (15 breast cancer, 6 cervical cancer, and 5 bowel cancer), hematolymphoid tumors, bone and soft tissue tumors and infectious lesions. The latent period of radiation-associated sarcomas ranged from 2-22 years, with an average of 11.6 years. Histopathologically, the morphology was divergent from the primary tumor. The most common malignant tumor type was undifferentiated sarcoma (22 cases), followed by osteosarcoma (16 cases). The immunophenotype of radiation-related sarcoma was almost the same as the corresponding soft tissue sarcoma. Conclusions: Radiation-induced sarcoma has a wide range of primary tumor types and its imaging, morphology and immunohistochemical features are similar to those of the primary sarcoma of bone and soft tissue. Clinical correlation is often recommended for the differential diagnosis.


Assuntos
Masculino , Feminino , Humanos , Estudos Retrospectivos , Sarcoma/patologia , Osteossarcoma/diagnóstico por imagem , Neoplasias de Tecidos Moles/patologia , Neoplasias Ósseas/patologia
8.
Frontiers of Medicine ; (4): 1068-1079, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1010829

RESUMO

The coronavirus disease 2019 (COVID-19) pandemic has stimulated tremendous efforts to develop therapeutic agents that target severe acute respiratory syndrome coronavirus 2 to control viral infection. So far, a few small-molecule antiviral drugs, including nirmatrelvir-ritonavir (Paxlovid), remdesivir, and molnupiravir have been marketed for the treatment of COVID-19. Nirmatrelvir-ritonavir has been recommended by the World Health Organization as an early treatment for outpatients with mild-to-moderate COVID-19. However, the existing treatment options have limitations, and effective treatment strategies that are cost-effective and convenient for tackling COVID-19 are still needed. To date, four domestically developed oral anti-COVID-19 drugs have been granted conditional market approval in China. These drugs include azvudine, simnotrelvir-ritonavir (Xiannuoxin), leritrelvir, and mindeudesivir (VV116). Preclinical and clinical studies have explored the efficacy and tolerability of mindeudesivir and supported its early use in mild-to-moderate COVID-19 cases at high risk for progression. In this review, we discuss the most recent findings regarding the pharmacological mechanism and therapeutic effects focusing on mindeudesivir and other small-molecule antiviral agents for COVID-19. These findings will expand our understanding and highlight the potential widespread application of China's homegrown anti-COVID-19 drugs.


Assuntos
Humanos , Ritonavir/uso terapêutico , COVID-19 , Antivirais/uso terapêutico , China , Nitrilas , Lactamas , Prolina , Adenosina/análogos & derivados , Leucina
9.
Chinese Journal of Stomatology ; (12): 498-505, 2023.
Artigo em Chinês | WPRIM | ID: wpr-986102

RESUMO

Periodontitis is one of the most common infectious oral diseases, which can cause destruction of periodontal supporting tissues and even tooth mobility and loss. Controlling infection, eliminating inflammation, restoring the physiological shape of periodontal tissues, and meeting functional and aesthetic needs are the main goals of periodontal treatment. When periodontitis develops to a more severe stage, surgical treatment is necessary to handle soft and hard tissues for good treatment results. Since the development of the first Nd:YAG laser dedicated to dental medicine by Myers in 1990, over 30 years of clinical and basic research have shown that lasers have tremendous potential in assisting periodontal surgery. This article summarizes the principles and operational routines of laser-assisted periodontal surgery, aiming to provide clinical reference for diagnosis and treatment.

10.
Chinese Journal of Stomatology ; (12): 491-497, 2023.
Artigo em Chinês | WPRIM | ID: wpr-986101

RESUMO

Oral mucositis (OM) is a common complication during hematopoietic stem cell transplantation. When OM occurs, with the destruction of oral mucosal barrier function, the formation of oral bacterial environment is accelerated, which has a negative impact on the life quality and clinical outcomes of patients. OM can be prevented by keeping the oral cavity clean, using the mouthwash properly, and limiting the delivery of cytotoxic drugs to oral tissues. This review describes the research progress on the prevention and local intervention of OM in patients with hematopoietic stem cell transplantation, in order to provide ideas for the selection of clinical intervention and management strategies on OM, and to provide references for exploring effective management methods for OM.

11.
Chinese Journal of Pediatrics ; (12): 418-424, 2023.
Artigo em Chinês | WPRIM | ID: wpr-985885

RESUMO

Objective: To investigate the influence of sleep fragmentation in infancy and toddler period on emotional and behavioral problems at the age of 6 years. Methods: Using a prospective cohort design, 262 children were extracted from mother-child birth cohort recruited from May 2012 to July 2013 in Renji Hospital, School of Medicine, Shanghai Jiao Tong University. Children's sleep and physical activities were assessed using actigraphy at 6, 12, 18, 24, and 36 months of age, from which the sleep fragmentation index (FI) at each follow-up point was calculated. Children's emotional and behavioral problems at 6 years of age were assessed using the strengths and difficulties questionnaire. Group-based trajectory model was applied to determine sleep FI in infancy and toddler period trajectory groups with Bayesian information criteria being used to determine the best fitting model. Children's emotional and behavioral problems between groups were examined with independent t test and linear regression models, etc. Results: A total of 177 children, with 91 boys and 86 girls, were included in the final analysis and were divided into 2 groups: high FI group (n=30) and low FI group (n=147). Compared with children in the low FI group, those in the high FI group presents with higher total difficulties score and higher hyperactivity or inattention score ((11.0±4.9) vs. (8.9±4.1), (4.9±2.7) vs. (3.7±2.3) scores, t=2.17, 2.23, both P<0.05, respectively), with the differences remaining significant after adjusting for covariates (t=2.08, 2.09, both P<0.05 respectively). Conclusion: High sleep fragmentation in infancy and toddler period is associated with more emotional and behavioral problems, especially hyperactivity or inattention problems, at 6 years of age.


Assuntos
Masculino , Feminino , Humanos , Lactente , Pré-Escolar , Criança , Estudos de Coortes , Comportamento Problema/psicologia , Privação do Sono , Estudos Prospectivos , Teorema de Bayes , China , Inquéritos e Questionários
12.
Chinese Journal of Pathology ; (12): 370-375, 2023.
Artigo em Chinês | WPRIM | ID: wpr-985682

RESUMO

Objective: To investigate the distribution and characteristics of gene mutations in osteosarcoma, and to analyze the frequency and types of detectable mutations, and to identify potential targets for individualized treatment of osteosarcoma. Methods: The fresh tissue or paraffin-embedded tissue samples of 64 cases of osteosarcoma that were surgically resected or biopsied and then subject to next generation sequencing, were collected from Beijing Jishuitan Hospital, China from November 2018 to December 2021. The tumor DNA was extracted to detect the somatic and germline mutations using targeted sequencing technology. Results: Among the 64 patients, 41 were males and 23 were females. The patient age ranged from 6 to 65 years with a median age of 17 years, including 36 children (under 18 years old) and 28 adults. There were 52 cases of conventional osteosarcoma, 3 cases of telangiectatic osteosarcoma, 7 cases of secondary osteosarcoma, and 2 cases of parosteosarcoma. The detection rate of gene mutations was overall 84.4% (54/64). There were 324 variations in 180 mutated genes, including 125 genes with copy number variations, 109 single nucleotide variants, 83 insertions or deletions, and 7 gene fusions. The most common mutated genes were TP53, VEGFA, CCND3, ATRX, MYC, RB1, PTEN, GLI1, CDK4 and PTPRD. Among them, TP53 had the highest mutation rate (21/64, 32.8%), single nucleotide variant was the main mutation type (14/23, 60.9%), and 2 cases carried the TP53 germline mutation. VEGFA and CCND3 showed copy number amplification simultaneously in 7 cases. Conclusions: The high-frequency mutation of TP53 suggests that it plays an important role in the pathogenesis and development of osteosarcoma. VEGFA, CCND3 and ATRX are mutated genes in osteosarcoma and worthy of further studies. Combination of pathologic diagnosis and next generation sequencing with clinical practice can guide individualized treatment for patients with refractory, recurrent and metastatic osteosarcoma.


Assuntos
Adulto , Masculino , Criança , Feminino , Humanos , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Idoso , Variações do Número de Cópias de DNA , Osteossarcoma/patologia , Mutação , DNA de Neoplasias , Sequenciamento de Nucleotídeos em Larga Escala , Neoplasias Ósseas/patologia , Nucleotídeos
13.
Chinese Journal of School Health ; (12): 979-984, 2023.
Artigo em Chinês | WPRIM | ID: wpr-984474

RESUMO

Objective@#The study aimed to develop Questionnaire for Parental Acceptability of School based Depression Symptom Screening by Delphi method, so as to provide a reference and suggestions for promoting screening adolescents depression.@*Methods@#The study was conducted through the literature review and two rounds of the Delphi expert consultation. The initial construction of scale dimension and item was conducted through the literature search. A survey of 12 experts from 6 different provinces, cities and regions in China was conducted, and the Delphi technique was used to collect and analyze expert opinions data about the importance and feasibility of questionnaire content. The dimensions and specific items of the questionnaire were finally determinded.@*Results@#The response rates were 100% in both rounds of Delphi consultation. Kendall coordination degree W =0.22 ( χ 2=63.72, P <0.01), which showed the agreement of expert opinions. The initial scale consisted of 4 dimensions and 17 items, including parental cognition of school based depression screening, parental cognition of school depression screening results feedback and management, parental attitude of school based depression screening, parental utilization of mental health services. After two rounds of expert consulattion, the final scale consisted of 3 first grade dimensions including parental cognition of depression symptom, parental attitude of school based depression symptom screening and parental mental health promotion behaviour, and also cinsisted of 4 second grade dimensions including parental knowledge of depression symptom, parental attitude of school based depression symptom screening, parental choice preference of school based depression symptom screening, parental utilization of mental health services, which had a total of 25 items.@*Conclusion@#The questionnaire is developed for assessing parental acceptability of school based depression screening and associated factors. The finding will facilitate mental health services providers in the screening implementation, but further empirical research is still needed.

14.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 117-125, 2023.
Artigo em Chinês | WPRIM | ID: wpr-971418

RESUMO

Objective: To clarify the phenotypes of the newborns with SLC26A4 single-allele mutation in deafness genetic screening and second variant; to analyze the SLC26A4 genotype and hearing phenotype. Methods: 850 newborns born in Beijing from April 2015 to December 2019 were included and there were 468 males and 382 females. They received genetic deafness screening for 9 or 15 variants, with the result of SLC26A4 single-allele mutation. Firstly, three step deafness gene sequencing was adopted in this work, i.e., the first step was "SLC26A4 gene whole exons and splice sites" sequencing; the second step was "SLC26A4 gene promoter, FOXI1 gene and KCNJ10 gene whole exons" sequencing; and the third step was detection for "SLC26A4 gene copy number variation". Secondly, we collected the results of newborn hearing screening for all patients with the second mutation found in the three step test, and conducted audiological examinations, such as acoustic immittance, auditory brainstem response and auditory steady state response. Thirdly, for novel/VUS mutations, we searched the international deafness gene database or software, such as DVD, ClinVar and Mutation Taster, to predict the pathogenicity of mutations according to the ACMG guideline. Lastly, we analyzed the relationship between genotype and phenotype of newborns with SLC26A4 single allele mutation. Results: Among 850 cases, the median age of diagnosis was 4 months. In the first step, 850 cases were sequenced. A total of 32 cases (3.76%, 32/850) of a second variants were detected, including 18 cases (2.12%, 18/850) with identified pathogenic variants; 832 cases were sequenced and 8 cases of KCNJ10 gene missense variants were detected among the second step. No missense mutations in the FOXI1 gene and abnormal SLC26A4 gene promoter were detected; the third step sequencing results were all negative. Genotypes and hearing phenotypes included 18 cases combined with the second clear pathogenic variant, 16 cases (16/18) referred newborn hearing screening and 2 cases (2/18) passed in both ears; degree of hearing loss consisted of 18 profound ears (18/36), 13 severe ears (13/36) and 5 moderate ears (5/36); audiogram patterns comprised 17 high frequency drop ears (17/36), 14 flat ears (14/36), 3 undistinguished ears (3/36), and 2 U shaped ears (2/36); 11 cases underwent imaging examination, all of which were bilateral enlarged vestibular aqueduct. As for 22 cases of other genotypes, all passed neonatal hearing screening and the hearing diagnosis was normal, including 9 cases with VUS or possibly novel benign variants, 8 cases with KCNJ10 double gene heterozygous variants, and 5 cases with double heterozygous variants. Conclusions: The probability of individuals with SLC26A4 single-allele variant who merge with a second pathogenic variant is 2.12%, all of which are SNV, which can provide scientific basis for the genetic diagnosis and genetic counseling of SLC26A4 variants. Those who have merged with second pathogenic variant are all diagnosed with sensorineural hearing loss. Patients with KCNJ10 gene mutations do not manifest hearing loss during the infancy, suggesting the need for further follow-up.


Assuntos
Feminino , Humanos , Masculino , Recém-Nascido , Alelos , Surdez/genética , Variações do Número de Cópias de DNA , Fatores de Transcrição Forkhead/genética , Genótipo , Perda Auditiva/genética , Perda Auditiva Neurossensorial/genética , Mutação , Fenótipo , Transportadores de Sulfato/genética , Aqueduto Vestibular , Canais de Potássio Corretores do Fluxo de Internalização/genética
15.
International Journal of Surgery ; (12): 405-409, 2022.
Artigo em Chinês | WPRIM | ID: wpr-954222

RESUMO

Objective:To investigate the effect of pelvic floor muscle exercise (PFMT) combined with transcutaneous electrical nerve stimulation (TENS) on urinary incontinence after radical prostatectomy.Methods:A total of 120 patients with urinary incontinence after radical prostatectomy in Shuguang Hospital, Shanghai University of Traditional Chinese Medicine from July 2020 to June 2021 were retrospective selected and divided into control group and observation groupthe according to different treatment method, 60 cases in each group. The control group was treated with PFMT, and the observation group was treated with PFMT combined with TENS. Urodynamic indexes of 72 h urine pad usage, maximum urine flow rate, maximum cystometric capacity, maximum urethral closure pressure, abdominal leakage point pressure, ICI-Q-SF score and the clinical efficacy were compared between the two groups. Measurement data were expressed as mean ± standard deviation ( ± s), and t-test was used for comparison between groups; Chi-square test was used for comparison of enumeration data between groups. Results:After treatment, the 72 h urine urine pad usage in the observation group [(1.95±1.13) pieces] was lower than that in the control group [(6.28±2.47) pieces], and the difference was statistically significant ( P<0.05). After treatment, the maximum flow rate [(13.92±2.53) mL/s], maximum cystometric capacity [(338.72±19.22) mL], maximum urethral closure pressure [(69.75±5.04) cmH 2O], abdominal leakage point pressure [(90.56±5.26) cmH 2O] in observation group after treatment were better than those in control group [(11.48±2.18) mL/s, (325.81±18.63) mL, (65.29±4.78) cmH 2O, (83.58±5.29) cmH 2O], the difference were statistically significant ( P<0.05). After treatment, the ICI-Q-SF score of the observation group [(5.97±1.82) points] was lower than that of the control group [(10.95±2.64) points], and the difference was statistically significant ( P<0.05); the clinical effective rate of observation group (93.33%) was higher than that of control group (78.33%), and the difference was statistically significant ( P<0.05). Conclusion:PFMT combined with TENS is better than PFMT alone in the treatment of postoperative urinary incontinence after radical prostatectomy.

16.
Chinese Journal of Anesthesiology ; (12): 260-264, 2022.
Artigo em Chinês | WPRIM | ID: wpr-933327

RESUMO

Objective:To evaluate the relationship between preoperative malnutrition and postoperative pulmonary complications (PPCs) in elderly patients undergoing thoracoscopic and laparoscopic radical esophagectomy.Methods:The elderly patients who underwent elective thoracoscopic and laparoscopic radical esophagectomy in the Affiliated Hospital of Jiangnan University were enrolled.The general clinical data and nutritional status, Assess Respiratory Risk in Surgical Patients in Catalonia (ARISCAT) score, tumor pathological stage and operation-related variables based on the Gobal Leader Initiative on Malnutrition criteria were recorded.The patients were divided into 2 groups according to whether PPCs occurred during hospitalization, and the differences between the variables were compared.Logistic regression analysis was used to identify the risk factors for PPCs in elderly patients undergoing thoracoscopic and laparoscopic radical esophagectomy.The accuracy of the ARISCAT score and ARISCAT score combined with malnutrition in predicting the occurrence of PPCs was evaluated by receiver operating characteristic curve.Results:A total of 256 elderly patients undergoing thoracoscopic and laparoscopic radical esophagectomy were included, and the incidence of PPCs was 23.8%.There were no significant differences between patients with and without PPCs in FEV 1/FVC, age, American Society of Anesthesiologists physical status, chronic obstructive pulmonary disease ratio, malnutrition ratio and ratio of patients with high ARISCAT score ( P<0.05). The results of logistic regression analysis showed that increasing age, chronic obstructive pulmonary disease, malnutrition and high ARISCAT score were independent risk factors for PPCs.The area under the receiver operating characteristic curve of ARISCAT score and malnutrition combined with ARISCAT score in predicting the occurrence of PPCs was 0.722 and 0.777, respectively, and the difference was statistically significant ( P<0.05). Conclusions:Preoperative malnutrition is an independent risk factor for the occurrence of PPCs in elderly patients undergoing thoracoscopic and laparoscopic radical esophagectomy, which is helpful in improving the accuracy of ARISCAT score in predicting the occurrence of PPCs.

17.
Chinese Journal of Geriatrics ; (12): 30-35, 2022.
Artigo em Chinês | WPRIM | ID: wpr-933028

RESUMO

Objective:To investigate the clinical significance and regulatory molecular mechanism of the circular RNA(circRNA)hsa_circ_0001445 in postmenopausal osteoporosis(PMOP).Methods:RNA was extracted from clinically collected blood samples, and the expression of circRNA hsa_circ_0001445 was detected by quantitative real-time PCR(qRT-PCR). Luciferase reporter gene analysis and RNA pull-down experiments were performed to investigate the interaction between two genes.Results:Compared with healthy controls, the plasma circRNA hsa_circ_0001445 in PMOP patients was down regulated( P<0.001). The circRNA hsa_circ_0001445 distinguished PMOP patients from healthy controls with high sensitivity and specificity.The area under the ROC curve(AUC)was 0.9654(95% CI: 0.9361-0.9947, P<0.001), and the sensitivity was 94.0%, while the specificity was 88.0%.The circRNA hsa_circ_0001445 promoted the osteogenic differentiation and inhibited the adipogenic differentiation of hBMSCs.The circRNA hsa_circ_0001445 can directly bind to miR-127-5p. Conclusions:Plasma level of the circRNA hsa_circ_0001445 is a potential diagnostic biomarker of PMOP and regulates the balance between osteogenesis and adipogenesis in hBMSCs by sponging miR-127-5p.

18.
Journal of Chinese Physician ; (12): 645-648, 2022.
Artigo em Chinês | WPRIM | ID: wpr-932112

RESUMO

Objective:To evaluate the influence factors of the peak time in computed tomography (CT) portal venography.Methods:Twenty-eight patients who underwent CT perfusion (CTP) examination in Minhang Hospital Affiliated to Fudan University from October 2020 to December 2021 were retrospectively collected. The CT enhancement time-density curves of the main portal vein trunk and abdominal aorta were obtained at the cross section of the left and right branches of portal vein. The peak time of portal vein and abdominal aorta, the enhanced CT attenuation of the liver and spleen parenchyma enhancement at the peak value of portal vein were measured. Pearson correlation and regression analysis were performed.Results:The peak time of abdominal aorta was (16.39±2.68)s, and portal vein was (27.12±4.65)s. The enhanced CT attenuation of liver and spleen parenchyma were (84.64±20.21)HU and (142.28±25.15)HU, respectively. The peak time of portal vein was positively correlated with the peak time of abdominal aorta ( r=0.825, P<0.001), and there was no statistical correlation with the enhanced CT values of liver and spleen. Multiple linear regression analysis showed that the peak time of abdominal aorta was an independent factor affecting the peak time of portal vein ( b=1.326, t=5.874, P<0.001). The regression equation was the peak time of portal vein=4.185+ 1.451× the peak time of abdominal aorta. The peak time of portal vein in cirrhosis group was (27.78±4.48)s, and that in noncirrhosis group was (26.8±4.81)s, with no significant difference between the two groups ( P=0.614). Conclusions:There was a linear correlation between the peak time of portal vein and the abdominal aorta, and the results could be helpful to optimize the setting of delay time before CT portal venography.

19.
Journal of Southern Medical University ; (12): 604-609, 2022.
Artigo em Chinês | WPRIM | ID: wpr-936354

RESUMO

OBJECTIVE@#To investigate the clinical characteristics of lower extremity arterial disease (LEAD) and its risk factors in patients with diabetic foot ulcer (DFU).@*METHODS@#We retrospectively collected the clinical and follow-up data of 650 patients with DFU treated in the Department of Endocrinology and Metabolism of Nanfang Hospital between January, 2017 and December, 2019. We compared the data between patients who had LEAD and those without LEAD and used a multivariate logistic regression model to analyze the risk factors of LEAD in DFU patients.@*RESULTS@#Among the 650 DFU patients, 470 (72.4%) had LEAD. The patients were followed up for a mean of 3.5 months, and the mean healing time of DFU was 2.55 months; healing of DFU occurred in 453 patients and 183 patients received amputation. The patients with LEAD and those without LEAD differed significantly in age, hospitalization costs, diastolic blood pressure (DBP), glycated hemoglobin, blood lipid levels, disease course, ankle brachial index, healing time, smoking history, clinical outcomes, Wagner grade and imaging results (P < 0.05). Multivariate logistic regression analysis identified age (OR=1.070, 95% CI: 1.049-1.091), smoking history (OR= 2.013, 95% CI: 1.268-3.195), and a decreased DBP (OR=0.980, 95% CI: 0.963-0.997) as independent risk factors for LEAD in DFU patients. A prolonged healing time was a prominent clinical feature of DFU complicated by LEAD.@*CONCLUSION@#DFU patients have a high incidence of LEAD, which leads to high rates of disability and mortality and is associated with an advanced age, high smoking rate and longer healing time. A decreased DBP is also a risk factor for LEAD in DFU patients.


Assuntos
Humanos , Amputação Cirúrgica , Diabetes Mellitus , Pé Diabético/epidemiologia , Extremidade Inferior , Estudos Retrospectivos , Fatores de Risco
20.
Journal of Experimental Hematology ; (6): 861-864, 2022.
Artigo em Chinês | WPRIM | ID: wpr-939701

RESUMO

OBJECTIVE@#To investigate the molecular mechanism of one patient with abnormal serological phenotype in RhD and discuss the transfusion strategy.@*METHODS@#The RhD variant sample was screened from a patient with IgM type anti-D antibody and further determined by three different sources of anti-D antibodies. Ten exons and the adjacent introns of the RHD gene were amplified, purified and sequenced. RhCE phenotypes and RHCE genotypes were detected.@*RESULTS@#The patient with Rh variant showed abnormal results of serological tests. The RHD gene sequence analysis showed that the RHD*01W.01 with a variation (c.809T>G, p.Val270Gly) in exon 6 of the RHD gene was found in the patient. The RhCE phenotype was CcEe. The genotyping results of RHCE were consistent with the serological typing results.@*CONCLUSION@#The Rh variant of the patient is RHD*01W.01, these findings indicate that RhD variants should be analyzed by molecular assays for the sake of safe transfusion.


Assuntos
Humanos , Alelos , Transfusão de Sangue , Éxons , Genótipo , Fenótipo , Sistema do Grupo Sanguíneo Rh-Hr/genética
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