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1.
Article de Chinois | WPRIM | ID: wpr-1018801

RÉSUMÉ

Objective To discuss the clinical efficacy of absolute ethanol and foam hardening agent in the treatment of large venous malformations(VM)in child patients.Methods The clinical data of a total of 60 child patients with solitary large VM were retrospectively analyzed.The child patients were divided into group A(n=30)and group B(n=30).Patients in group A received absolute ethanol injection followed by foam hardening agent injection,while patients in group B received foam hardening agent injection followed by absolute ethanol injection.The clinical efficacy,complications,mean number of injections and mean dosage of absolute ethanol were compared between the two groups.Results The total effective rate in both group A and group B was 100%.The markedly effective rate in group A and group B was 63.33%(19/30)and 90%(27/30)respectively,and the difference was statistically significant(P<0.05).In group A and group B,the mean dosage of absolute ethanol was(10.30±3.19)mL and(6.73±2.06)mL respectively,the mean number of injection was(3.57±1.01)times and(2.63±0.61)times respectively,and the differences in the above two indexes were statistically significant(both P<0.05).No serious complications occurred in either group.The incidence of blisters in group A and group B was 30%(9/30)and 6.67%(2/30)respectively,and the difference was statistically significant(P<0.05).Conclusion For large VM in child patients,combination use of absolute ethanol and foam hardening agent can improve the curative efficacy,reduce the dosage of absolute ethanol,and lower the incidence of complications.In addition,the therapeutic mode of foam hardening agent injection followed by absolute ethanol injection can achieve better efficacy.(J Intervent Radiol,2024,32:28-32)

2.
Article de Chinois | WPRIM | ID: wpr-1019490

RÉSUMÉ

Objective:To explore the clinical efficacy of areola approach endoscopic thyroidectomy (AET) and gasless axillary approach endoscopic thyroidectomy (GAET) in the treatment of papillary thyroid carcinoma (PTC) patients.Methods:A total of 96 PTC patients from the Thyroid Surgery Department of Linyi People’s Hospital from May. 2019 to May. 2022 were selected and randomly divided into 48 patients using a random number table method. The areola group received AET, while the armpit group received GAET. The surgical situation, postoperative recovery, relevant biochemical indicators [white blood cell count (WBC), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), parathyroid hormone (PTH), blood calcium] before and after surgery, postoperative pain level, discomfort level, neck function, and complications were compared between the two groups.Results:The surgical time and extubation time of the armpit group were (125.71±15.73) minutes and (3.12±0.53) days, respectively, which were shorter than those of the areola group (137.94±20.02) minutes and (3.48±0.46) days. The intraoperative bleeding volume was (14.19±4.16) mL, which was less than that of the areola group (22.65±7.39) mL, and the number of lymph nodes cleaned was 5.06±1.02, which was more than that of the areola group (4.23±1.14) ( P<0.05) ; there was no significant difference in postoperative drainage volume and hospital stay between the two groups ( P>0.05) ; Peripheral blood WBC in the armpit group on the 1st and 3rd day after surgery [ (5.69±0.15) ×10 9/L, (5.52±0.14) ] ×10 9/L, ESR [ (8.21±0.55) mm/h, (7.64±0.60) mm/h], CRP [ (10.06±1.78) ng/L, (8.93±1.33) ng/L] were lower than those in the areola group [ (5.83±0.21) ×10 9/L, (5.70±0.23) ×10 9/L, (8.87±0.74) mm/h, (8.19±0.68) mm/h, (12.45±1.90) ng/L, (10.45±1.50) ng/L] ( P<0.05). There was no significant difference in the levels of the above biochemical indicators 5 days after surgery ( P>0.05). There was no significant difference in peripheral blood PTH and calcium levels between the two groups on the 1st, 3rd, and 5th postoperative days ( P>0.05). The pain level [ (3.25±0.32) scores, (2.53±0.27) scores, (1.82±0.22) scores] and discomfort level [ (6.85±0.71) scores, (5.24±0.66) scores, (3.51±0.57) scores] in the axillary group were lower than those in the areola group [ (3.78±0.40) scores, (2.89±0.34) scores, (2.06±0.26) scores, (7.46±0.84) scores, (6.09±0.73) scores, (4.16±0.60) scores] on the 1st, 3rd, and 5th postoperative days ( P<0.05). The neck flexion, lateral flexion, and extension range of motion in the axillary group on the 3rd day after surgery were (33.16±3.09) °, (27.63±2.57) °, and (30.44 2.73) °, respectively, which were greater than those in the areola group[ (30.08±2.76) °, (25.14±2.30) °, and (27.98±2.54) °], and the swallowing disorder index was (30.16±4.97) points lower than the (34.83±4.13) points in the areola group ( P<0.05). The incidence of complications in the axillary group was 4.17% (2/48), lower than the 16.67% (8/48) in the areola group. Conclusion:GAET treatment for PTC patients can improve the effect of lymph node dissection, reduce the degree of surgical trauma, postoperative pain and discomfort, accelerate early postoperative recovery of neck function, and reduce complications.

3.
Article de Chinois | WPRIM | ID: wpr-1021454

RÉSUMÉ

BACKGROUND:Previous brain studies have mostly focused on adults and fetuses,and the developmental characteristics of young children's brainstems have rarely been studied. OBJECTIVE:To observe the brainstem development characteristics of healthy young children and to explore the age-related differences and their correlation with sex. METHODS:From January 2019 to April 2022,a retrospective study of 3.0T MRI images of 174 children aged 2 to 6 years in the Affiliated Hospital of Inner Mongolia Medical University was conducted,and the median sagittal diameter,area and angle of the brainstem(including midbrain,pons and medulla oblongata)were measured. RESULTS AND CONCLUSION:There is an age-related increase in the anterior and posterior diameters of the midbrain,pons and medulla oblongata in the 2-5 years old group as well as in the longitudinal diameter and area of the midbrain,pons and medulla oblongata in the 2-6 years old group.Except for the longitudinal diameter of the medulla oblongata,all others show a positive correlation with age(r>0,P<0.05).In the 2-3 years old group and 4-5 years old group,the children are in the rapid growth and development stage,and these two age groups can be used as the key observation indicators for the development of young children.The anterior-posterior diameter,longitudinal diameter,area of the pons and total brainstem area are strongly correlated with age,which can be used as the key observation indicators for the brainstem development in young children.

4.
Article de Chinois | WPRIM | ID: wpr-1024952

RÉSUMÉ

【Objective】 To investigate the prevalence of Hepatitis E virus (HEV) among blood donors in Wuhan urban agglomeration, aimed at providing data support for the development of HEV screening strategies for blood donors. 【Methods】 A total of 3 329 blood samples were collected from four centralized testing areas (Ezhou, Tianmen, Xiantao and Qianjiang) and screened at Wuhan Blood Center from January to December 2021. Among them, 2 737 were eligible blood samples with normal ALT (ALT normal group) and 592 were with elevated ALT (ALT elevated group). Enzyme linked immunosorbent assay (ELISA) was used to detect anti-HEV IgG, anti-HEV IgM and HEV-Ag, and Real-time PCR was used to perform single HEV RNA detection on blood samples with elevated ALT and normal ALT anti-HEV IgM+ blood samples. A two-sided Pearson’s chi-squared test or Fisher's exact test was used to evaluate the differences in the positive rates of anti-HEV IgG and anti-HEV IgM in different regions and ALT groups. 【Results】 The overall positive rates of anti-HEV IgG, anti-HEV IgM, and HEV-Ag in 3 329 blood samples from four regions were 21.63%, 1.29%, and 0%, respectively. There was a significant difference in the positive rates of anti-HEV IgG among blood donors in different regions (P<0.05). The highest positive rate of anti-HEV IgG was found in Tianmen 29.44% (136/462), followed by Qianjiang 22.69% (236/1 040), Xiantao 22.66% (230/1 015), and Ezhou 14.53% (118/812). The positive rates of anti-HEV IgG and anti-HEV IgM in blood samples with elevated ALT were significantly higher than that in normal ALT samples (25.68% vs 20.75%, 2.53% vs 1.02%, both P<0.05). However, none of the samples was HEV RNA positive. 【Conclusion】 HEV is prevalent among blood donors in Wuhan urban agglomeration with extremely low current infection rates, and the prevalence of anti-HEV IgG serum varies among different regions. The prevalence of anti-HEV antibodies in blood donors with elevated ALT is significantly higher than that in normal ALT donors.

5.
Journal of Chinese Physician ; (12): 18-24, 2024.
Article de Chinois | WPRIM | ID: wpr-1026055

RÉSUMÉ

Objective:To evaluate the correlation and consistency between quantitative coronary flow fraction (QFR) and cardiac magnetic resonance imaging (CMR) in assessing myocardial ischemia in patients with coronary heart disease (CAD).Methods:A retrospective analysis was conducted on the data of coronary heart disease patients who underwent load CMR examination and coronary angiography at the Beijing Anzhen Hospital, Capital Medical University from August 2017 to March 2022. CMR examination includes cardiac cine, load/rest myocardial perfusion imaging, and delayed enhancement sequence. According to the results of CMR examination, the patient′s left ventricular myocardial segments were divided into normal segment group and abnormal segment group (further divided into ischemic segment group and infarcted segment group). On the basis of coronary angiography, an artificial intelligence based platform (AngioPlus system) was applied to calculate the preoperative coronary artery QFR value of patients undergoing percutaneous coronary intervention treatment. Kappa test was used to evaluate the consistency of QFR and CMR in diagnosing abnormal myocardium; Mann Whitney U test was used to compare the differences in QFR between groups; The receiver operating characteristic (ROC) curve was used to evaluate the efficacy of QFR in diagnosing abnormal myocardium; Spearman correlation analysis was used to clarify the relationship between myocardial infarction area and QFR value of the supplying coronary artery in patients.Results:Among the 70 CAD patients enrolled, there were 60 males and 10 females, aged (54.1±11.1)years. At the vascular level, the consistency between QFR and CMR in diagnosing myocardial injury (including ischemia and infarction) is moderate (Kappa value=0.514). The sensitivity and specificity of detecting abnormal myocardial segments in CAD patients were 57% and 91%, respectively. The area under the curve (AUC) value of QFR predicting abnormal myocardium in CAD patients was 0.769, and the optimal cutoff value was QFR=0.865. At this time, the sensitivity and specificity of QFR predicting myocardial injury in CAD patients were 67.2% and 84.3%, respectively. The difference in vascular QFR between the normal segment group, ischemic segment group, and infarcted segment group was statistically significant ( P<0.001), with the infarcted segment group having significantly lower QFR values than the other two groups (all P<0.01). The range of myocardial infarction was negatively correlated with the QFR value of the supplying coronary artery ( r=-0.45, P<0.001). At the patient level, the consistency between QFR and CMR in diagnosing myocardial injury (including ischemia and infarction) was moderate (Kappa value=0.445), with a sensitivity of 74% and a specificity of 81% for diagnosing myocardial injury in CAD patients. Conclusions:Compared with CMR, QFR has better specificity in detecting myocardial injury in CAD patients. The QFR value of the infarcted segment group is significantly lower than that of the ischemic group and the normal group. The area of myocardial infarction is negatively correlated with the QFR value of the supplying coronary artery.

6.
Article de Chinois | WPRIM | ID: wpr-1026289

RÉSUMÉ

Objective To observe the abnormal brain activity in patients with migraine without aura(MwoA)with MRI.Methods Fifty MwoA patients(MwoA group)and 46 healthy volunteers(control group)were prospectively enrolled.Functional MRI(fMRI)was performed to observe the dynamic regional homogeneity(dReHo)of brain regions,then brain regions with differences of dReHo value between groups were extracted,and correlations with clinical scales were analyzed.Results Compared with control group,dReHo values of surrounding cortex of bilateral calcarine fissure and right middle occipital gyrus increased,of right middle temporal gyrus,right middle frontal gyrus and left cuneus decreased in MwoA group(GRF correction,voxel level all P<0.005,cluster level all P<0.05).The weight analysis showed that brain regions with top 3 absolute weight values were surrounding cortex of right calcarine fissure,left cuneus and right middle occipital gyrus.dReHo value of surrounding cortex of left calcarine fissure in MwoA patients was negative correlated with self-rating depression scale(SDS)(r=-0.28,P=0.04).Conclusion Abnormalities in the upward transmission pathway of visual information existed in MwoA patient,especially in surrounding cortex of right calcarine fissure,left cuneus and right middle occipital gyrus.

7.
Article de Chinois | WPRIM | ID: wpr-1027194

RÉSUMÉ

Objective:To explore the effectiveness and safety of focused ultrasound ablation surgery (FUAS) for abdominal wall endometriosis.Methods:From November 2019 to October 2022, a total of 34 patients with abdominal wall endometriosis who underwent FUAS were collected, and their clinical features, imaging features, intraoperative treatment and side effects after treatment were analyzed retrospectively, and the improvement of symptoms and re-intervention were followed up.Results:(1) Characteristics of clinical data: the average age of 34 patients with abdominal wall endometriosis was (32.8±3.8) years old. The largest diameter of the lesion was 48 mm, and the median lesion diameter was 24 mm. Thirty cases (88%, 30/34) had moderate to severe periodic pain in abdominal incision before FUAS. All patients were diagnosed by preoperative magnetic resonance imaging, including 19 cases (56%, 19/34) of superficial type, 8 cases (24%, 8/34) of intermediate type and 7 cases (21%, 7/34) of deep type. (2) FUAS treatment parameters: ablation was completed with average operation time of (64±18) minutes, average sonication time was (385±108) s, (103±11) W of average power, (38 819±16 309) J of average total energy, the average treatment area volume of (3.11±1.42) cm 3, and (377.79±106.34) s/h of average treatment intensity. (3) Efficiency: the pain of patients after FUAS was significantly relieved, and the pain scores of patients after 1 month, 3 months, 6 months and 1 year after FUAS were significantly decreased ( Z=-4.66, -5.13, -5.11 and -4.91, all P<0.01). One year after FUAS, the near relief and effective pain relief rate was 74% (25/34), and the clinical effective rate was 85% (29/34). Five patients recurred after one year, including 3 patients who underwent abdominal wall endometriosis lesion resection and 2 patients who received drug treatment. One month after FUAS, the size of the lesion did not change significantly compared with that before FUAS ( P>0.05), and the size of the lesion decreased significantly after FUAS at 3 months, 6 months and 1 year ( Z=-2.15, -2.67 and -3.41, all P<0.05). It has no difference in pain relief among different types ( P>0.05), but has significant difference in focus reduction among three types ( P<0.01). (4) Safety: there were 34 cases (100%, 34/34) of skin burning sensation, 19 cases (56%, 19/34) of pain in the treatment area and 2 cases (6%, 2/34) of hematuria. All patients got better after corresponding treatments. Conclusion:FUAS is safe and effective for the treatment of abdominal wall endometriosis, which has clinical application value.

8.
Journal of Leukemia & Lymphoma ; (12): 148-151, 2024.
Article de Chinois | WPRIM | ID: wpr-1017398

RÉSUMÉ

Objective:To investigate the level change of cytokines in patients with Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis (EBV-HLH).Methods:A retrospective case control study was conducted. The clinical data of 65 patients with EBV-HLH, 30 patients with infectious mononucleosis (IM) (IM group) and 40 patients with non-EBV infection-associated hemophagocytic lymphohistiocytosis (non-EBV-HLH group) who admitted to Tongji Hospital,Tongji Medical College of Huazhong University of Science and Technology from February 2022 to February 2023 were retrospectively analyzed. The enzyme-linked immunosorbent assay (ELISA) was used to detect the expression levels of the interleukin (IL)-6, IL-2, IL-10, IL-8, IL-1β, tumor necrosis factor-α (TNF-α) and interferon γ (IFN-γ) in serum samples of patients in the above 3 groups. The cytokines levels in EBV-HLH group were compared with those in IM group and non-EBV-HLH group, respectively.Results:The cytokines levels of IL-6, IL-2, IL-10, IL-8, IL-1β, TNF-α and IFN-γ in EBV-HLH group were higher than those in the non-EBV-HLH group, and the differences were statistically significant (all P < 0.05). The cytokines levels of IL-2, IL-10 and IFN-γ in EBV-HLH group were higher than those in IM group, and the differences were statistically significant (all P < 0.05). Conclusions:The cytokines levels of IL-6, IL-2, IL-10, IL-8, IL-1β, TNF-α, IFN-γ are increased in EBV-HLH patients, which may play an important role in the development and progression of EBV-HLH.

9.
Article de Chinois | WPRIM | ID: wpr-1018084

RÉSUMÉ

Objective:To evaluate the feasibility and clinical effectiveness of placing a nasointestinal ileus tube (NTI) during extensive adhesive bowel obstruction (ABO) surgery.Methods:A retrospective analysis was performed for the clinical and follow-up data of 60 patients with extensive ABO admitted to the Department of General Surgery of Daxing District Hospital of Capital Medical University from April 2019 to April 2021, of which 30 patients underwent intraoperative NIT intraintestinal alignment (observation group) and 30 patients who did not undergo NIT intraintestinal alignment (control group) during the same period. There were 12 males and 18 females in the observation group. There were 16 males and 14 females in the control group. The operation time, gastrointestinal function recovery time, discharge time, total effective rate and postoperative complication rate were compared between the two groups, and the quantitative data of the recurrence rate of intestinal obstruction at 24 months after surgery were expressed as mean ± standard deviation ( ± s), and the t-test was used for comparison between groups. Numerological data were presented as cases (percentage) [ n (%)], and chi-square tests were used for comparison between groups. Results:All patients were successfully completed the surgery and discharged from the hospital. There was no statistically significant difference in total effective rate between the control group and the observation group( χ2=3.16, P=0.237). The surgical time in the observation group was slightly longer than that in the control group [(110.6±4.6) min vs (94.3±2.5) min, t=17.27, P=0.001]. The recovery time of gastrointestinal function and hospitalization time in the observation group were shorter than those in the control group[(8.13±1.00) d vs (8.70±0.70) d, t=2.53, P=0.014; (12.83±1.57) d vs (13.67±1.03) d, t=0.03, P=0.018]. The incidence of postoperative complications was lower than that in the control group (10% vs 30%, P=0.028), and the difference was statistically significant. Conclusion:Intraoperative application of NIT is safe and effective, and can significantly reduce the recurrence rate of postoperative intestinal obstruction.

10.
International Eye Science ; (12): 338-344, 2024.
Article de Chinois | WPRIM | ID: wpr-1011379

RÉSUMÉ

AIM: To observe the effects of Liuwei Dihuang Tang on the expression levels of ferritin, recombinant solute carrier family 7 member 11(SLC7A11), glutathione(GSH), and glutathione peroxidase 4(GPX4)in retinal of aging model rats.METHODS: A total of 45 SD rats were randomly divided into a blank group, a model group, and a traditional Chinese medicine(TCM)group, with 15 rats in each group. The blank group was intraperitoneally injected with physiological saline, while the model group and TCM group were intraperitoneally injected with D-galactose [500 mg/(kg·d)]. At the same time, the TCM group was orally administered with Liuwei Dihuang Tang [6.75 g/(kg·d)], while the blank group and model group were orally administered with equal volume of physiological saline for 8 consecutive wk. The expression levels of ferritin, SLC7A11, GSH, and GPX4 in the retinal tissues of rats in each group were detected.RESULTS: The expression of ferritin in the retinal tissue of the model group was increased compared to the blank group(P&#x003C;0.05), while the expression of GSH, SLC7A11, and GPX4 was reduced(P&#x003C;0.05). The expression of GSH, SLC7A11, and GPX4 in the retina tissue of rats in the TCM group was higher than that in the model group(P&#x003C;0.05).CONCLUSIONS: Liuwei Dihuang Tang may exert a delaying effect on retinal aging by regulating the ferroptosis pathway.

11.
Article de Chinois | WPRIM | ID: wpr-970868

RÉSUMÉ

OBJECTIVE@#To analyze the clinical phenotype and results of genetic testing in three children with Cornelia de Lange syndrome (CdLS).@*METHODS@#Clinical data of the children and their parents were collected. Peripheral blood samples of the pedigrees were collected for next generation sequencing analysis.@*RESULTS@#The main clinical manifestations of the three children have included growth delay, mental retardation, peculiar facies and other accompanying symptoms. Based on the criteria proposed by the International Diagnostic Consensus, all three children were suspected for CdLS. As revealed by whole exome sequencing, child 1 has harbored NIPBL gene c.5567_5569delGAA insTAT missense variant, child 2 has harbored SMC1A gene c.607A>G missense variant, and child 3 has harbored HDAC8 gene c.628+1G>A splicing variant. All of the variants were de novo in origin.@*CONCLUSION@#All of the children were diagnosed with CdLS due to pathogenic variants of the associated genes, among which the variants of NIPBL and HDAC8 genes were unreported previously. Above finding has enriched the spectrum of pathogenic variants underlying CdLS.


Sujet(s)
Humains , Protéines du cycle cellulaire/génétique , Syndrome de Cornelia de Lange/diagnostic , Génotype , Phénotype , Dépistage génétique , Histone deacetylases/génétique , Protéines de répression/génétique
12.
Article de Anglais | WPRIM | ID: wpr-971380

RÉSUMÉ

Prostate cancer is currently one of the most common malignancies that endanger the lives and health of elderly men. In recent years, immunotherapy, which exploits the activation of anti-cancer host immune cells to accomplish tumor-killing effects, has emerged as a new study avenue in the treatment of prostate cancer. As an important component of immunotherapy, cancer vaccines have a unique position in the precision treatment of malignant tumors. Monocyte cell vaccines, dendritic cell vaccines, viral vaccines, peptide vaccines, and DNA/mRNA vaccines are the most often used prostate cancer vaccines. Among them, Sipuleucel-T, as a monocyte cell-based cancer vaccine, is the only FDA-approved therapeutic vaccine for prostate cancer, and has a unique position and role in advancing the development of immunotherapy for prostate cancer. However, due to its own limitations, Sipuleucel-T has not been widely adopted. Meanwhile, owing to the complexity of immunotherapy and the specificity of prostate cancer, the remaining prostate cancer vaccines have not shown good clinical benefit in large randomized phase II and phase III trials, and further in-depth studies are still needed.


Sujet(s)
Sujet âgé , Humains , Mâle , Vaccins anticancéreux/usage thérapeutique , Immunothérapie , Prostate/anatomopathologie , Tumeurs de la prostate/anatomopathologie , Extraits tissulaires/usage thérapeutique
13.
Article de Chinois | WPRIM | ID: wpr-971418

RÉSUMÉ

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.


Sujet(s)
Femelle , Humains , Mâle , Nouveau-né , Allèles , Surdité/génétique , Variations de nombre de copies de segment d'ADN , Facteurs de transcription Forkhead/génétique , Génotype , Perte d'audition/génétique , Surdité neurosensorielle/génétique , Mutation , Phénotype , Transporteurs de sulfate/génétique , Aqueduc du vestibule , Canaux potassiques rectifiants entrants/génétique
14.
Protein & Cell ; (12): 28-36, 2023.
Article de Anglais | WPRIM | ID: wpr-971610

RÉSUMÉ

The emerging of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) caused COVID-19 pandemic. The first case of COVID-19 was reported at early December in 2019 in Wuhan City, China. To examine specific antibodies against SARS-CoV-2 in biological samples before December 2019 would give clues when the epidemic of SARS-CoV-2 might start to circulate in populations. We obtained all 88,517 plasmas from 76,844 blood donors in Wuhan between 1 September and 31 December 2019. We first evaluated the pan-immunoglobin (pan-Ig) against SARS-CoV-2 in 43,850 samples from 32,484 blood donors with suitable sample quality and enough volume. Two hundred and sixty-four samples from 213 donors were pan-Ig reactive, then further tested IgG and IgM, and validated by neutralizing antibodies against SARS-CoV-2. Two hundred and thirteen samples (from 175 donors) were only pan-Ig reactive, 8 (from 4 donors) were pan-Ig and IgG reactive, and 43 (from 34 donors) were pan-Ig and IgM reactive. Microneutralization assay showed all negative results. In addition, 213 screened reactive donors were analyzed and did not show obviously temporal or regional tendency, but the distribution of age showed a difference compared with all tested donors. Then we reviewed SARS-CoV-2 antibody results from these donors who donated several times from September 2019 to June 2020, partly tested in a previous published study, no one was found a significant increase in S/CO of antibodies against SARS-CoV-2. Our findings showed no SARS-CoV-2-specific antibodies existing among blood donors in Wuhan, China before 2020, indicating no evidence of transmission of COVID-19 before December 2019 in Wuhan, China.


Sujet(s)
Humains , Anticorps antiviraux , Donneurs de sang , Chine/épidémiologie , COVID-19/immunologie , Immunoglobuline G , Immunoglobuline M , Pandémies , SARS-CoV-2
15.
Modern Clinical Nursing ; (6): 11-17, 2023.
Article de Chinois | WPRIM | ID: wpr-1022105

RÉSUMÉ

Objective To investigate the occurrence of the abnormal blood glucose of aged patients in surgery,analyse the risk factors and provide a reference basis to find out the elderly patients who are in high risk of intraoperative abnormal blood glucose before surgery hence to take prompt and preventive measures.Methods A cross-sectional study was conducted with a continuously sampling method to select 208 elderly patients who were≥65 years old and underwent surgery in a tertiary hospital in Beijing,from June to December 2021 as the research subjects.Preoperative arterial catheterisation was applied to monitor the intraoperative blood glucose.The electronic case system was used to collect relevant data on influencing factors such as general data,laboratory indicators and perioperative indicators.The electronic case system was used to collect relevant data on influencing factors such as general data,laboratory indicators and perioperative indicators.Univariate analysis and binary logistic regression analysis were performed to determine the risk factors of intraoperative abnormal blood glucose of the aged patients.Results The rate of incidence of intraoperative abnormal blood glucose in elderly patients was 74.5%(155/208).Multivariate logistic regression analysis showed that higher ventricular arterial blood glucose on admission(OR=3.530),time of surgery at 4.1-5.0 hours(OR=3.831)and≥5.1 hours(OR=16.201),and general anaesthesia(OR=4.588)were the independent risk factors of the intraoperative blood glucose abnormalities in the aged patients(all P<0.05).Conclusions The incidence of intraoperative abnormal blood glucose in aged patients is relatively high.The risk factors include ventricular arterial blood glucose on admission,time of surgery≥4.1 hours and general anaesthesia.Operating room nurses should identify the occurrence of intraoperative abnormal blood glucose based on the risk factors and take prompt and preventive measures as early as possible in order to ensure the safety of the surgical process and promote patient recovery.

16.
Article de Chinois | WPRIM | ID: wpr-1022936

RÉSUMÉ

The current situation and problems of the consumables management in the ward unit of the emergency medical team were introduced.An intelligent consumables management belt was prepared based on two-dimensional code technology to solve the problems of the ward unit in consumables positioning,storage,inconvenient access,management process and support cost,which enhanced the efficacy of the emergency medical team greatly.

17.
Article de Chinois | WPRIM | ID: wpr-1023260

RÉSUMÉ

With the course of Clinical Skill Training as an example, this article integrates hierarchical teaching and peer teaching, adopts the problem-based learning (PBL) teaching model and famous traditional Chinese medicine (TCM) teaching clinics, connects the assessment criteria for standardized residency training, and pays attention to cultivating a reasonable teacher team, so as to improve the overall teaching quality of the course and the enthusiasm for the course among students. The application of the teacher inheritance model combined with case-based learning (CBL) teaching can help medical students to learn and inherit the clinical experience and skills, communication methods, and academic ideas of famous old TCM doctors and inherit and carry forward the essence of TCM culture. At the same time, CBL teaching is adopted to promote the integrated and people-oriented teaching concept of TCM, with medical students as the main body and teachers as the supporting role. The training with this model can effectively improve the clinical skills and development potential of TCM students.

18.
Chinese Journal of Medical Physics ; (6): 1453-1458, 2023.
Article de Chinois | WPRIM | ID: wpr-1026163

RÉSUMÉ

Objective To analyze the individualized CTV-to-PTV margin dose and positioning errors in radiotherapy for esophageal cancer for improving the treatment accuracy while meeting dose requirements.Methods Fifty-four esophageal cancer patients admitted to Sun Yat-sen University Cancer Center at Huangpu District from June 2021 to June 2022 were enrolled.All of the patients underwent CBCT scans in each fraction,and a total of 1283 CBCT images were collected.The image registration between CBCT image before radiotherapy and planning CT image was carried out to obtain errors in vertical(VRT),longitudinal(LNG),lateral(LAT),Roll,Pitch,and YAW directions.The mean values of six-dimensional positioning errors in the first 5 fractions were calculated,and the results were compared with the total fractional errors using the single sample t-test method for determining the differences.The CTV-to-PTV margin was calculated with the formula(margin=2.5∑+0.7δ),and the calculated margins were divided into 5 groups:Group A(5 mm expansion in all directions),Group B(7.9 mm expansion in LAT direction,and 5 mm expansion in other directions),Group C(11.03 mm expansion in LNG direction,and 5 mm expansion in the other directions),Group D(6.36 mm expansion in VRT direction,and 5 mm expansion in the other directions),and Group E(7.9 mm expansion in LAT direction,11.03 mm expansion in LNG direction,and 6.36 mm expansion in VRT direction).Simulation planning was conducted for 10 patients.Results The proportions of differences between the mean values of six-dimensional errors in the first 5 fractions and the total fractional errors in 54 patients were analyzed.There was no significant difference in 192 out of the 324 directions in 54 patients,accounting for 59.26%(P>0.05).Among them,the LAT,LNG,VRT,Pitch,Roll and YAW directions accounted for 64.81%,57.41%,51.85%,64.81%,57.41%and 59.26%of the total cases.The calculated CTV-to-PTV margin was 7.90,11.03 and 6.36 mm in LAT,LNG and VRT directions.The statistical analysis showed that the differences in the coverage rates of organs-at-risk and target areas among the 5 groups of CTV-to-PTV margins were trivial(P>0.05).Conclusion Using the positioning errors in the first 5 fractions of radiotherapy for esophageal cancer to predict subsequent positioning errors is feasible.The reasonable individualized margin in radiotherapy for esophageal cancer can reduce the inter-fractional off-target rate without increasing the dose delivered to organs-at-risk.The study provides a reference for the target volume margin of esophageal cancer and an important basis for precision treatment.

19.
Chinese Journal of Radiology ; (12): 1231-1238, 2023.
Article de Chinois | WPRIM | ID: wpr-1027273

RÉSUMÉ

Objective:To investigate the value of radiomics features derived from cardiac MR (CMR) cine images for predicting late gadolinium enhancement (LGE) in patients with hypertrophic cardiomyopathy (HCM).Methods:Firstly, a total of 300 HCM patients with definite diagnosis who underwent CMR examination in Beijing Anzhen Hospital from May 2017 to August 2021 were retrospectively included, and were divided into a training set and a test set with a proportion of 7∶3 using random stratified sampling method. Then, a total of 89 HCM patients with definite diagnosis who underwent CMR examination in Beijing Anzhen Hospital from January 2022 to May 2023 were included for external validation. The CVI42 software was used to obtain the cardiac function parameters. Intraclass correlation coefficient (ICC), Pearson correlation coefficient and least absolute shrinkage and selection operator (LASSO) were used to select radiomics features. Finally, LASSO regression and three machine learning algorithms (including support vector machine, linear discriminant analysis and naive Bayes) were used to build prediction models. The area under the receiver operating characteristic curve (AUC) was used to evaluate the prediction value of the model.Results:Totally 1 409 features were extracted from each patient, and 19 features were retained to build radiomics signature after dimension reduction. Although no significant differences among the four methods, the prediction performance and stability of LASSO regression were relatively good. The AUC was 0.795 (95%CI 0.735-0.855) in the training set, 0.765 (95%CI 0.668-0.862) in the test set and 0.721(95%CI 0.598-0.845) in the external validation set.Conclusions:The features extracted from CMR cine images can be used to predict LGE in HCM patients. LASSO regression is recommended for model construction.

20.
China Modern Doctor ; (36): 95-100,111, 2023.
Article de Chinois | WPRIM | ID: wpr-1038087

RÉSUMÉ

Objective Using network pharmacology to explore the mechanism of action of tripterygium wilfordii-white peony in the treatment of rheumatoid arthritis(RA)and validating it using an adjuvant arthritis rat model.Methods Obtain the effective ingredients of tripterygium wilfordii and white peony through TCMSP database and predict the action targets;Obtain the disease targets of RA using DisGeNET and GeneCards online database;Draw the network of"tripterygium wilfordii-white peony-active ingredient-RA"and screen the core effective components using the software Cytoscape 3.9.1;Construct the protein-protein interaction(PPI)network using String database and screen the core targets using the CytoNCA plug-in,using the Metascape database for gene enrichment analysis of common targets,and using Auto Dock Tools and Pymol software for molecular docking of core active ingredients and targets.Enzyme linked immunosorbent assay(ELISA)detection of serum tumor necrosis factor-α(TNF-α),interleukin(IL)-4,IL-6,and IL-17 levels in adjuvant arthritis rats,Western blot was used to detect the expression of phosphorylated phosphatidylinositol 3-hydroxy kinase(p-PI3K)and phosphorylated AKT protein(p-AKT),validate the results of network pharmacology analysis.Results There were a total of 61 effective ingredients in the treatment of RA with tripterygium wilfordii-white peony,with 116 targets and 191 signaling pathways involved.Animal experiments have shown that compared with the model group rats,the serum cytokine TNF-α,IL-6 and IL-17 of rats in tripterygium wilfordii-white peony group and tripterygium wilfordii extract group were significantly decreased(P<0.05),IL-4 significantly increased(P<0.05);The expression of p-PI3K and p-AKT in synovial tissue was significantly reduced(P<0.05);Compared with rats in tripterygium wilfordii extract group,the TNF-α,IL-6,IL-17,p-PI3K and p-AKT of rats in tripterygium wilfordii-white peony group were significantly reduced(P<0.05),while IL-4 was significantly increased(P<0.05).Conclusion Tripterygium wilfordii-white peony can inhibit the overexpression of phosphatidylinositol 3-hydroxy kinase(PI3K)/protein kinase B(AKT)signaling pathway,regulate cytokine release,exert anti-inflammatory effects,and ultimately treat RA through multiple active ingredients and targets.

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