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1.
Article in Chinese | WPRIM | ID: wpr-920744

ABSTRACT

Objective To identify the differentially expressed proteins in different liver tissues in the mouse model of alveolar echinococcosis using high-resolution mass spectrometry with data independent acquisition (DIA), and to identify the key proteins contributing to the pathogenesis of alveolar echinococcosis. Methods Protoscoleces were isolated from Microtus fuscus with alveolar echinococcosis and the experimental model of alveolar echinococcosis was established in female Kunming mice aged 6 to 8 weeks by infection with Echinococcus multilocularis protoscoleces. Mice were divided into the experimental and control groups, and animals in the experimental group was injected with approximately 3 000 protoscoleces, while mice in the control group were injected with the same volume of physiological saline. Mouse liver specimens were sampled from both groups one year post-infection and subjected to pathological examinations. In addition, the lesions (the lesion group) and peri-lesion specimens (the peri-lesion group) were sampled from the liver of mice in the experimental group and the normal liver specimens (the normal group) were sampled from mice in the control group for DIA proteomics analysis, and the differentially expressed proteins were subjected to bioinformatics analysis. Results A total of 1 020 differentially expressed proteins were identified between the lesion group and the normal group, including 671 up-regulated proteins and 349 down-regulated proteins, and 495 differentially expressed proteins were identified between the peri-lesion group and the normal group, including 327 up-regulated proteins and 168 down-regulated proteins. The Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis revealed that these differentially expressed proteins were involved in peroxisome, peroxisome proliferator-activated receptor (PPAR) and fatty acid degradation pathways, and the peroxisome and PPAR signaling pathways were found to correlate with liver injury. Several differentially expressed proteins that may contribute to the pathogenesis of alveolar echinococcosis were identified in these two pathways, including fatty acid binding protein 1 (Fabp1), Acyl-CoA synthetase long chain family member 1 (Acsl1), Acyl-CoA oxidase 1 (Acox1), Enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase (Ehhadh) and Acetyl-Coenzyme A acyltransferase 1B (Acaa1b), which were down-regulated in mice in the experimental group. Conclusion A large number of differentially expressed proteins are identified in the liver of the mouse model of alveolar echinococcosis, and Fabp1, Acsl1, Acox1, Ehhadh and Acaa1b may contribute to the pathogenesis of alveolar echinococcosis.

2.
Article in Chinese | WPRIM | ID: wpr-920743

ABSTRACT

Objective To identify the differentially expressed proteins in different liver tissues in the mouse model of cystic echinococcosis (CE), so as to provide insights into the research and development of therapeutic drugs targeting CE. Methods Female Kunming mice at ages of 6 to 8 weeks were randomly assigned into the CE group and the control group. Mice in the CE group were intraperitoneally infected with 2 000 Echinococcus multilocularis protoscoleces, while mice in the control group were injected with the same volume of physiological saline. All mice in both groups were sacrificed after breeding for 350 d, and the lesions (the lesion group) and peri-lesion specimens (the peri-lesion group) were sampled from the liver of mice in the CE group and the normal liver specimens (the normal group) were sampled from mice in the control group for data independent acquisition (DIA) proteomics analysis, and the differentially expressed proteins were subjected to Gene Ontology (GO) term enrichment analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis. Results A total of 26 differentially expressed proteins were identified between the lesion group and the normal group and between the peri-lesion group and the normal group, including 8 up-regulated proteins and 18 down-regulated proteins. GO term enrichment analysis showed that these differentially expressed proteins were predominantly enriched in endoplasmic reticulum membrane (biological components), oxidoreductase activity (molecular function) and oxoacid metabolic process and monocarboxylic acid metabolic process (biological processes). KEGG pathway enrichment analysis revealed that the differentially expressed protein Acyl-CoA oxidase 1 (Acox1), which contributed to primary bile acid biosynthesis during the fatty acid oxidation, was involved in peroxisome signaling pathway, and the differentially expressed protein fatty acid binding protein 1 (Fabp1), which contributed to fatty acid transport, was involved in the peroxisome proliferator-activated receptor (PPAR) signaling pathway. Conclusion Differentially expressed proteins are identified in the liver specimens between mouse models of CE and normal mice, and some differentially expressed proteins may serve as potential drug targets for CE.

3.
Article in English | WPRIM | ID: wpr-924879

ABSTRACT

Background@#Studies have reported favorable outcomes using the paratricipital approach for fixation of distal humeral intra-articular fractures. However, literature evaluating the clinical results of the approach remains limited. The objective of this study was to compare clinical outcomes between type 13C2 and type 13C1 distal humeral fractures after open reduction and internal fixation performed using the same approach and same type of plate. @*Methods@#A total of 52 adults with type 13C1 or 13C2 distal humeral fractures were treated surgically at our institution during 2006 to 2018. We retrospectively analyzed data from 29 of these patients (19 with type 13C1 fractures and 10 with 13C2 fractures) who met the inclusion criteria. All subjects were followed for a minimum of 2 years postoperatively. Clinical and radiologic results were analyzed to determine differences in outcomes between the two types of fractures. Clinical results were evaluated using elbow range of motion (ROM), Mayo Elbow Performance Score (MEPS), and Quick Disabilities of the Arm, Shoulder and Hand (Q-DASH) score. Alignment, fracture union, and presence of posttraumatic arthritis were evaluated radiologically. @*Results@#The patients’ mean age was 51 years, and the mean duration of follow-up was 29 months. Mean ROM was 129.5° ± 21.5° in the type 13C1 group and 123.0° ± 20.6° in the 13C2 group (p = 0.20). Mean Q-DASH score was 12.6 ± 11.7 in the 13C1 group and 16.2 ± 19.8 in the 13C2 group (p = 0.60). Mean MEPS was 92.9 ± 8.5 in the 13C1 group and 85.0 ± 14.1 in the 13C2 group (p = 0.09). Carrying angle did not differ significantly between the 13C1 and 13C2 groups. No patient in either group exhibited nonunion or posttraumatic arthritis. @*Conclusions@#Although the paratricipital approach has the disadvantage of limited visualization of articular surfaces, there were no differences in surgical outcomes between type 13C1 and type 13C2 distal humeral fractures after fixation using this approach.Thus, surgeons may need to consider using the paratricipital approach for open reduction and internal fixation of 13C2 distal humeral fractures.

4.
Chinese Medical Journal ; (24): 1299-1309, 2021.
Article in English | WPRIM | ID: wpr-878164

ABSTRACT

BACKGROUND@#Bendamustine was approved in China on May 26th, 2019 by the National Medical Product Administration for the treatment of indolent B-cell non-Hodgkin lymphoma (NHL). The current study was the registration trial and the first reported evaluation of the efficacy, safety, and pharmacokinetics of bendamustine in Chinese adult patients with indolent B-cell NHL following relapse after chemotherapy and rituximab treatment.@*METHODS@#This was a prospective, multicenter, open-label, single-arm, phase 3 study (NCT01596621; C18083/3076) with a 2-year follow-up period. Eligible patients received bendamustine hydrochloride 120 mg/m2 infused intravenously on days 1 and 2 of each 21-day treatment cycle for at least six planned cycles (and up to eight cycles). The primary endpoint was the overall response rate (ORR); and secondary endpoints were duration of response (DoR), progression-free survival (PFS), safety, and pharmacokinetics. Patients were classified according to their best overall response after initiation of therapy. Proportions of patients in each response category (complete response [CR], partial response [PR], stable disease, or progressive disease) were summarized along with a two-sided binomial exact 95% confidence intervals (CIs) for the ORR.@*RESULTS@#A total of 102 patients were enrolled from 20 centers between August 6th, 2012, and June 18th, 2015. At the time of the primary analysis, the ORR was 73% (95% CI: 63%-81%) per Independent Review Committee (IRC) including 19% CR and 54% PR. With the follow-up period, the median DoR was 16.2 months by IRC and 13.4 months by investigator assessment; the median PFS was 18.6 months and 15.3 months, respectively. The most common non-hematologic adverse events (AEs) were gastrointestinal toxicity, pyrexia, and rash. Grade 3/4 neutropenia was reported in 76% of patients. Serious AEs were reported in 29 patients and five patients died during the study. Pharmacokinetic analysis indicated that the characteristics of bendamustine and its metabolites M3 and M4 were generally consistent with those reported for other ethnicities.@*CONCLUSION@#Bendamustine is an active and effective therapy in Chinese patients with relapsed, indolent B-cell NHL, with a comparable risk/benefit relationship to that reported in North American patients.@*CLINICAL TRIAL REGISTRATION@#ClinicalTrials.gov, No. NCT01596621; https://clinicaltrials.gov/ct2/show/NCT01596621.


Subject(s)
Adult , Antineoplastic Combined Chemotherapy Protocols , Bendamustine Hydrochloride/therapeutic use , China , Humans , Lymphoma, Non-Hodgkin/drug therapy , Neoplasm Recurrence, Local/drug therapy , Prospective Studies , Rituximab/therapeutic use
5.
Yonsei Medical Journal ; : 129-136, 2021.
Article in English | WPRIM | ID: wpr-875593

ABSTRACT

Purpose@#Acute decompensated heart failure (ADHF) caused by ischemic heart disease is associated with higher mortality and requires immediate diagnosis. Recently, novel methods to diagnose non-ST elevation myocardial infarction (NSTEMI) using high-sensitivity cardiac troponin have been applied. We compared the clinical utility of high-sensitivity troponin I (hS-TnI), delta troponin I, and other traditional methods to diagnose NSTEMI in patients with ADHF. @*Materials and Methods@#This retrospective cross-sectional study was conducted to analyze patients with ADHF who underwent hS-TnI evaluation of 0–2-h protocol in our emergency department. Patients were grouped according to a diagnosis of NSTEMI. @*Results@#A total of 524 ADHF [ADHF with NSTEMI, n=109 (20.8%)] patients were enrolled in this analysis. The mean values of hS-TnI (ng/mL) in the ADHF with and without NSTEMI groups were 2.44±5.60 and 0.25±0.91, respectively. Multivariable analysis revealed that regional wall-motion abnormality, T-wave inversion/hyperacute T wave, and initial and delta hS-TnI were predictive factors for NSTEMI. Laboratory values related to cardiac biomarkers, including hS-TnI [odds ratio (OR) (95% confidence interval, CI): 2.18], and the delta hS-TnI [OR (95% CI): 1.55] were significant predictors of NSTEMI. Moreover, receiver operating characteristic analysis showed that the areas under receiver operating characteristic curves for electrocardiographic abnormalities, initial hS-TnI, and delta hS-TnI were 0.794, 0.802, and 0.773, respectively. @*Conclusion@#For diagnosis of suspected NSTEMI in patients with ADHF, initial hS-TnI assay has similar predictive value as ischemic changes on electrocardiogram and superior predictive value than delta hS-TnI calculated by the 0–2-h protocol.

6.
Article in English | WPRIM | ID: wpr-874998

ABSTRACT

Purpose@#There are no standard surgical treatments for open distal radius fractures (DRFs), and the fracture fixator is chosen by the surgeon’s own experience. This study compared the outcomes of open reduction and volar locking plating (OR VLP) between closed and open AO-OTA type C3 DRFs. @*Materials and Methods@#Patient data were retrospectively collected between January 2010 and December 2018. Only patients aged >18 years with AO-OTA C3 DRFs were included. After further exclusion, the patients with DRFs were divided into two groups: 13 patients with open DRFs in Group 1 and 203 patients with closed DRFs in Group 2. Data on the patient characteristics and treatment-related factors were further investigated. For the radiological evaluation, the radial height, volar height, and volar titling were measured based on the final plain radiography, and the union time was measured. The wristrange of motion (ROM), pain visual analogue scale score, and modified Mayo wrist score for function were measured at the final outpatient follow-up. Finally, the complications associated with OR VLP fixa-tion were investigated. @*Results@#In the demographic comparison, the patients with open fractures were older (mean age, 62years) than those with closed fractures (mean age, 57 years), without a statistically significant differ-ence. The patients with open DRFs had longer antibiotic therapy and hospital stay durations. Although they presented a higher radial inclination, with statistical significance, the clinical implication was low with a mean difference of 3°. No significant differences were observed for the remaining radiologicalparameters, wrist ROM, and functional scores. An open DRF did not increase the complication rates,including deep infection. @*Conclusion@#Depending on the expertise of the operating surgeon, the primary OR VLP fixation in open intra-articular comminuted DRF did not increase the incidence of deep infections and yielded similar outcomes to a closed intra-articular comminuted DRF.

7.
Article in English | WPRIM | ID: wpr-897928

ABSTRACT

Background@#The rupture of the central slip of an extensor tendon of a finger causes a boutonniere (or buttonhole) deformity, characterized by pathologic flexion at the proximal interphalangeal (PIP) joint and hyperextension at the distal interphalangeal (DIP) joint. Currently, there are no standard treatment guidelines for this deformity. This study aimed to report clinical results of surgery to correct chronic boutonniere deformity. @*Methods@#This retrospective case series was conducted between January 2010 and December 2018 and only 13 patients with trauma-induced chronic deformity were included. After excision of elongated scar tissue, a direct anatomic end-to-end repair using a loop suture technique with supplemental suture anchor augmentation was conducted. Total active motion was assessed before and after surgery and self-satisfaction scores were collected from phone surveys. @*Results@#All patients presented with Burton stage I deformities defined as supple and passively correctable joints. The initial mean extension lag of the PIP joint (43.5°) was improved by an average of 21.9° at the final follow-up (p < 0.001). The mean hyperextension of the DIP joint averaged 19.2° and improved by 0.8° flexion contracture (p < 0.001). The average total active motion was 220.4° (range, 160°–260°). Based on the Souter’s criteria, 69.2% (9/13) of the patients had good results. Only 1 patient reported fair outcome and 23.1% (3/13) reported poor outcome. The average Strickland formula score was 70 (range, 28.6–97.1). In total, 10 patients (77%) had excellent or good results. Of 10 patients contacted by phone, self-reported satisfaction score was very satisfied in 2, satisfied in 3, average in 3, poor in 1, and very poor in 1. Three patients reported a relapse of the deformity during range of motion exercises, 1 of whom underwent revision surgery. One patient complained of PIP joint flexion limitation, and 2 complained of DIP joint flexion limitation at final follow-up. @*Conclusions@#In chronic boutonniere deformity, central slip reconstruction with anchor suture augmentation can be an easily applicable surgical option, which offers fair to excellent outcome in 77% of the cases. The risk of residual extension lag and recurrence of deformity should be discussed prior to surgery.

8.
Chinese Journal of Geriatrics ; (12): 1280-1285, 2021.
Article in Chinese | WPRIM | ID: wpr-911003

ABSTRACT

Objective:To investigate the incidence, risk factors and prognosis of acute renal injury(AKI)in elderly patients with respiratory distress syndrome(ARDS).Methods:The elderly patients with ARDS treated in the Department of Respiratory Medicine, Emergency Department and Geriatrics of the Second People's Hospital of Lianyungang from July 2016 to July 2019 were divided into AKI group and non-AKl group according to KDIGO diagnostic criteria.The clinical data and the differences were compared and analyzed between the two groups.Binary Logistic regression was used to analyze Risk factors for AKI.Kaplan-Meier cure was used to analyze the influence of different stages of AKI on the prognosis of ARDS patients.The Cox proportional hazards model was used to analysis risk factors for AKI and ARDS on elderly patients'prognosis.Results:A total of 432 elderly patients with ARDS were enrolled in the study, in which the mean age was 74.7 ± 8.8 years, and AKI occurred in 129 cases(29.9%). Compared with non-AKI group, AKI group showed older age, and higher proportion of the incidences of hypertension, diabetes, atrial fibrillation, consciousness disturbance, mechanical ventilation and a low mean arterial pressure(all P<0.05). The incidence of AKI was increased significantly in patients with moderate to severe ARDS( P< 0.001). The levels of basal creatinine, AST and NT-proBNP were significantly higher in AKI Group than in non-AKI Group( P= 0.001, P< 0.001, P< 0.001). AKI Group patients had the more elevated inflammatory marker level of neutrophil / lymphocyte ratio(NLR)( P= 0.003)and D-dimer( P< 0.001), and the level of high-sensitivity c-reactive protein(hsCRP)( P=0.040). AKI group showed the increased incidence of urine protein( P< 0.001), low ejection fraction( P= 0.040), and positive rate of pleural effusion( P= 0.003). Logistic Regression analysis showed the following independent risk factors for the development of ARDS-associated AKI, included hypertension( OR: 1.789, 95%, CI: 1.105-2.894, P=0.018), diabetes( OR: 1.976, 95% CI: 1.076-3.628, P=0.028), consciousness disturbance( OR: 2.531, 95% CI: 1.203-5.251, P=0.014), mechanical ventilation( OR: 3.421, 95% CI: 1.521-7.694, P=0.003), AST>40 U/L( OR: 2.495, 95% CI: 1.431-4.348, P=0.001), increased basal creatinine levels( OR: 1.014, 95% CI: 1.002-1.027, P=0.024), and NLR( OR: 1.015, 95% CI: 1.001-1.029, P=0.042). Kaplan-Meier survival curve showed that there was a significant difference in the prognosis between patients with different AKI stages( χ2=19.790, P<0.001), and there was no significant difference in the prognosis between stage 1-AKI and non-AKI( χ2=2.188, P=0.139). The risk of poor prognosis was higher in AKI(stage 2-3)group( χ2=18.268, P<0.001; χ2=6.347, P=0.012)than in patients without AKI or stage 1 AKI.Multivariate Cox Proportional Hazard Model Analysis elucidated that AKI( HR: 1.858, 95% CI: 1.207-2.861, P= 0.005)and moderate-severe ARDS( HR: 1.815, 95% CI: 1.167-2.822, P=0.008)were independent risk factors for poor prognosis of ARDS in the elderly. Conclusions:Hypertension, diabetes, disturbance of consciousness, mechanical ventilation, AST>40 U/L, elevated levels of basal creatinine and NLR are independent risk factors for ARDS-associated AKI in elderly patients with ARDS.Patients with moderate-severe ARDS and AKI(2-3 phases)have the increased risk of poor prognosis.

9.
Article in English | WPRIM | ID: wpr-890224

ABSTRACT

Background@#The rupture of the central slip of an extensor tendon of a finger causes a boutonniere (or buttonhole) deformity, characterized by pathologic flexion at the proximal interphalangeal (PIP) joint and hyperextension at the distal interphalangeal (DIP) joint. Currently, there are no standard treatment guidelines for this deformity. This study aimed to report clinical results of surgery to correct chronic boutonniere deformity. @*Methods@#This retrospective case series was conducted between January 2010 and December 2018 and only 13 patients with trauma-induced chronic deformity were included. After excision of elongated scar tissue, a direct anatomic end-to-end repair using a loop suture technique with supplemental suture anchor augmentation was conducted. Total active motion was assessed before and after surgery and self-satisfaction scores were collected from phone surveys. @*Results@#All patients presented with Burton stage I deformities defined as supple and passively correctable joints. The initial mean extension lag of the PIP joint (43.5°) was improved by an average of 21.9° at the final follow-up (p < 0.001). The mean hyperextension of the DIP joint averaged 19.2° and improved by 0.8° flexion contracture (p < 0.001). The average total active motion was 220.4° (range, 160°–260°). Based on the Souter’s criteria, 69.2% (9/13) of the patients had good results. Only 1 patient reported fair outcome and 23.1% (3/13) reported poor outcome. The average Strickland formula score was 70 (range, 28.6–97.1). In total, 10 patients (77%) had excellent or good results. Of 10 patients contacted by phone, self-reported satisfaction score was very satisfied in 2, satisfied in 3, average in 3, poor in 1, and very poor in 1. Three patients reported a relapse of the deformity during range of motion exercises, 1 of whom underwent revision surgery. One patient complained of PIP joint flexion limitation, and 2 complained of DIP joint flexion limitation at final follow-up. @*Conclusions@#In chronic boutonniere deformity, central slip reconstruction with anchor suture augmentation can be an easily applicable surgical option, which offers fair to excellent outcome in 77% of the cases. The risk of residual extension lag and recurrence of deformity should be discussed prior to surgery.

10.
Article in Chinese | WPRIM | ID: wpr-884345

ABSTRACT

Objective:To evaluate the value of shear wave dispersion imaging in identifying inflammatory reaction zone after liver ablation in rabbits.Methods:The animal model was made by laser ablation of rabbit liver, and then shear wave dispersion imaging and strain elastography imaging were performed on the ablation area at 3 d, 7 d, and 14 d after ablation. The shear wave dispersion values, elastic value and strain ratio measured by shear wave elastography, shear wave dispersion and strain elastography in different regions such as central necrotic tissue, surrounding inflammatory reaction zone and normal liver tissue after ablation were analyzed.Results:The shear wave dispersion values of inflammatory reaction zone around ablation site, necrotic tissue in the center of ablation site and normal liver tissue in rabbits were (26.07±4.55)m·s -1·kHz -1, (21.97±10.53)m·s -1·kHz -1and (15.45±3.94)m·s -1·kHz -1, respectively, the differences were statistically significant (all P<0.05). Compared with the three time points of 3 d, 7 d and 14 d after ablation, the shear wave dispersion value of the inflammatory zone was the highest on the 7th day after ablation ( P<0.05), while the elastic value and strain ratio in this region did not change significantly among these three time points ( P>0.05). Conclusions:Shear wave dispersion imaging can simultaneously measure tissue elasticity and viscosity, which has certain application value in identifying the inflammatory reaction zone around the ablation site in rabbit liver.

11.
Article in Chinese | WPRIM | ID: wpr-910140

ABSTRACT

Objective:To investigate the clinical feasibility of three-dimensional contrast-enhanced ultrasound (3D-CEUS) in the quantitative assessment of blood perfusion of hepatocellular carcinoma (HCC).Methods:Between January 2020 and August 2021, 36 HCC patients (39 lesions in total) confirmed by pathology and clinical diagnosis without any treatment from Zhongshan Hospital, Fudan University were enrolled and underwent both 2D-CEUS and 3D-CEUS examinations. Each examination last for 150 s and all images were recorded, and then the data were analyzed. A region of interest was manually drawn along the margin of the whole tumor and then the time-intensity curve (TIC) generated. The following perfusion parameters were extracted: peak intensity (PI), peak time (TTP), ascending slope (AS), mean transit time (MTT) and area under the curve (AUC). After calculating the quality of fit (QOF) of the curve, the intraobserver agreement of the 3D-CEUS quantitative parameters obtained by the same doctor between two times were assessed, and the consistency of the 3D-CEUS and 2D-CEUS quantitative parameters was evaluated when QOF>75%. The differences of the quantitative parameters between different groups (divided by depth of 8 cm and necrosis rate of 50%, respectively) in 3D-CEUS were compared.Results:There were 38 lesions (97.4%, 38/39) with QOF>75% in 3D-CEUS. The intraobserver agreement was excellent, the intraclass correlation efficient(ICC) values was 0.85-0.99. The consistency of the time quantitative parameters (TTP and MTT) were high (the ICC values of 0.87 and 0.91), and the correlation of intensity quantitative parameters were substantial, the rs values were 0.71, 0.72 and 0.71. The differences in 3D-CEUS quantitative parameters of the two groups of lesions with different depths were statistically significant (all P<0.05); but there were no significant differences in quantitative parameters between the two groups with different necrosis rate (all P>0.05). Conclusions:Quantitative 3D-CEUS is an useful and creditable tool in evaluating the blood perfusion of HCC, especially when the depth of lesion was less than 8 cm.

12.
International Eye Science ; (12): 563-565, 2020.
Article in Chinese | WPRIM | ID: wpr-798302

ABSTRACT

@#AIM: To explore the risk factors of strabismus in preschool children.<p>METHODS: The clinical data of 1 926 preschool children who were hospitalized in Chongqing General Hospital of armed police from July 2009 to December 2015 were analyzed retrospectively. Among them, the children with strabismus were included in the strabismus group(<i>n</i>=186)and the children with normal vision were included in the normal group(<i>n</i>=1 740). The single factor and multi factor Logistic analysis were conducted on the clinical data of the two groups.<p>RESULTS: Birth weight, Apgar score and gestational age were independent risk factors for preschool children's strabismus(<i>P</i><0.05), and Apgar score had the highest risk \〖<i>OR</i>(95% <i>CI</i>): 6.336(2.180-18.416)\〗.<p>CONCLUSION: Birth weight, Apgar score and gestational age are independent risk factors for preschool children's strabismus. Pregnant women should pay attention to prenatal care and try to give birth at full term to avoid the risk factors of children's strabismus. At the same time, regular visual screening of preschool children should be strengthened and appropriate interventions should be given.

13.
Chinese Journal of Neurology ; (12): 192-196, 2020.
Article in Chinese | WPRIM | ID: wpr-870795

ABSTRACT

Objective:To report the clinical and genetic characteristics of a family of creatine transporter deficiency (CRTR-D) caused by SLC6A8 gene mutation.Methods:A patient, who came from Department of Neurology, Shanxi Children′s Hospital in September 2018, with epilepsy and unexplained general developmental retardation, was clinically examined. The medical history of his family was also collected. Genetic detection was performed to analyze their genetic causes.Results:The proband, a three years and three months old boy, was walking unsteadily, unable to speak and having frequent seizures, with increased urine creatine/creatinine ratio and decreased peak of cerebral creatine indicated by magnetic resonance spectrum. The proband′s uncle had the similar symptoms with him. The mother of the proband only showed some learning difficulties, while the father, sister and grandparents of the proband had no symptoms. The proband was found to have TTC deletion mutation of SLC6A8 gene (NM_005629), c. 1222_1224del (p.Phe408del), suggestting the diagnosis of X-linked CRTR-D. The proband′s mother and grandmother had heterozygous mutations. The proband′s uncle carried the same hemizygous mutation, which was not detected in the proband′s father, sister or grandfather.Conclusion:In this family of CRTR-D caused by SLC6A8 gene mutation, two female carriers with the same mutation presented different clinical features, suggesting phenotypic variation, which has a great significance in studying the correlation between genotype and phenotype.

14.
Article in Chinese | WPRIM | ID: wpr-864922

ABSTRACT

Objective:To investigate the effects of levetiracetam on bone metabolism and thyroid hormone levels in children with epilepsy.Methods:A total of 20 children with epilepsy first diagnosed in our hospital from July 2016 to June 2017 were selected as the treatment group, the other 20 children who received physical examination in the same period were selected as the control group.The treatment group was given oral LEV monotherapy for 12 months.The changes of bone metabolism indexes[blood calcium, blood phosphorus, alkaline phosphatase activities, osteocalcin, parathyroid hormone, 25-(OH)D], bone mineral density(BMD)and serum thyroid hormone(triiodothyronine, tetraiodothyronine, free triiodothyronine, free thyroxine, thyroid stimulating hormone) in the control group and the treatment group were detected before, 6 and 12 months after medication.Results:(1)There were no statistically significant differences in bone metabolism indexes and BMD between the control group and the treatment group before medication( P>0.05). The differences showed no statistically significant in bone metabolism indexes and BMD among different time points of treatment group( P>0.05). (2)There were no significant differences in thyroid hormone levels between the control group and the treatment group before medication( P>0.05). There were no significant differences in thyroid hormone levels among different time points of treatment group ( P>0.05). Conclusion:Levetiracetam has no significant effects on bone metabolism and thyroid hormone level in epileptic children.

15.
Article in Chinese | WPRIM | ID: wpr-864000

ABSTRACT

Objective:To study the effects of new antiepileptic drugs (AEDs), including Topiramate (TPM), Oxcarbazepine(OXC), Lamotrigine(LTG), and Levetiracetam (LEV) monotherapy on bone metabolism in children with epilepsy aged 4-12.Method:s One hundred and sixty children with epilepsy who were diagnosed for the first time at Shanxi Children′s Hospital from July 2016 to June 2017 were selected and given oral TPM (40 cases), OXC (40 cases), LTG (40 cases) and LEV (40 cases) respectively according to the type of seizure.The changes of bone mineral density (BMD) and bone metabolism indexes including serum calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), osteocalcin (OC), parathyroid hormone (PTH), 25 hydroxyvitamin D [25-(OH)D] before treatment and at 3, 6 and 12 months after treatment were observed.Result:s (1) Bone metabolism indicators and BMD had no significant difference among groups before treatment (all P>0.05). (2) After 6 and 12 months of treatment in OXC group, Ca was lower than before treatment[2.38(0.08) mmol/L vs.2.47(0.17) mmol/L, 2.44(0.10) mmol/L vs.2.47(0.17) mmol/L], PTH was higher than before treatment[37.64(17.52) ng/L vs.34.23(20.53) ng/L, 40.74(16.15) ng/L vs.34.23(20.53) ng/L]; Ca in TPM group decreased after 6 and 12 months of treatment[2.40(0.11) mmol/L vs.2.42(0.10) mmol/L, 2.41(0.09) mmol/L vs.2.42(0.10) mmol/L], and the differences were statistically significant(all P<0.05). (3) After 6 and 12 months of treatment, Ca in the OXC group was lower than that in the LEV group[2.38(0.08) mmol/L vs.2.44(0.10) mmol/L, 2.44(0.10) mmol/L vs.2.44(0.12) mmol/L] and LTG group[2.38(0.08) mmol/L vs.2.44(0.13) mmol/L, 2.44(0.10) mmol/L vs.2.42(0.13) mmol/L], and PTH in the OXC group was higher than that in the LEV group[37.64(17.52) ng/L vs.36.52(20.71) ng/L, 40.74(16.15) ng/L vs.31.89(14.84) ng/L] and LTG group[37.64(17.52) ng/L vs.39.39(24.03) ng/L, 40.74(16.15) ng/L vs.33.01(12.20) ng/L], Ca in TPM group after 12 months of treatment was lower than that in the LEV group[2.41(0.09) mmol/L vs.2.44(0.12) mmol/L] and LTG group[2.41(0.09) mmol/L vs.2.42(0.13) mmol/L], and the differences were statistically significant(all P<0.05). Conclusions:In the new AEDs, LEV and OXC have no significant effect on bone metabolism.TPM may affect bone metabolism by reducing Ca in children with epilepsy, and OXC may cause the decrease of Ca and the increase of PTH, thereby leading to increased bone turnover in children with epilepsy.

16.
Article in Korean | WPRIM | ID: wpr-919946

ABSTRACT

Purpose@#Soft tissue defects of the distal lower extremity are commonly accompanied by a fracture of the lower extremities. Theses defects are caused by the injury itself or by complications associated with surgical treatment of the fracture, which poses challenging problem. The reverse superficial sural artery flap (RSSAF) is a popular option for these difficult wounds. This paper reviews these cases and reports the clinical results. @*Materials and Methods@#Between August 2003 and April 2018, patients who were treated with RSSAF for soft tissue defects of the lower third of the leg and ankle related to a fracture were reviewed. A total of 16 patients were involved and the mean follow-up period was 18 months. Eight cases (50.0%) of the defects were due to an open fracture, whereas the other eight cases (50.0%) were postoperative complication after closed fracture. The largest flap measured 10×15 cm2 and the mean size of the donor sites was 51.9 cm2. The flap survival and postoperative complications were evaluated. @*Results@#All flaps survived without complete necrosis or failure. One case with partial necrosis of the flap was encountered, but the wound healed after debridement and repair. One case had a hematoma with a pseudoaneurysmal rupture of the distal tibial artery. On the other hand, the flap was intact and the wound healed after arterial ligation and flap advancement. A debulking operation was performed on three cases for cosmetic reasons and implant removal through the flap was performed in three cases. No flap necrosis was encountered after these additional operations. @*Conclusion@#RSSAF is a relatively simple and safe procedure for reconstructing soft tissue defects following a fracture of the lower extremity that does not require microsurgical anastomosis. This can be a useful treatment option for soft tissue defects on the distal leg, ankle, and foot.

17.
Article | WPRIM | ID: wpr-836501

ABSTRACT

Purpose@#The ACOSOG Z0011 trial has proven the oncological safety of sentinel lymph node biopsy (SLBx) for node negative breast cancer. Accordingly, treatment paradigm including axilla surgery was changed. We retrospectively reviewed breast cancer patients to evaluate the clinical effect of paradigm shift in breast cancer surgery after applying the Z0011 criteria. @*Methods@#All women who underwent breast-conserving surgery at the National Cancer Center between January 1, 2000, and December 31, 2015, were enrolled and classified according to the Z0011 criteria. The primary endpoint of the study was the disease-free survival rates, and the secondary was the adverse events, especially arm lymphedema. @*Results@#Total 361 patients were enrolled the study (271 axillary lymph node dissection [ALND] group, 90 SLBx group). After the Z0011 guideline was adopted in our institute, the use of ALND decreased, and lymph node sampling (removing only a few axillary lymph nodes) replaced ALND. The total mean number of retrieved nodes were more in ALND group (13.02) than SLBx group (3.43). However, there was no difference in the mean number of positive nodes between two groups (2.34 in ALND group vs. 1.12 in SLBx group, P=0.001). During follow-up, 25 patients experienced disease recurrence: 22 from the ALND group and three from the SLBx group. All of died seven patients were from the ALND group. The ALND group had more complications than the SLBx group (P=0.02). Arm edema occurred more frequently in the ALND group (29.5%) than in the SLBx group (5.6%), although without statistical significance (P=0.07). @*Conclusion@#In our study, we concluded that SLBx can be used safely in Z0011-eligible cohort without increased risk of locoregional recurrence. Moreover, we found that omission of ALND is favored to reduce some serious complications such as arm lymphedema.

18.
Article | WPRIM | ID: wpr-831114

ABSTRACT

Purpose@#This study aimed to determine the incidence of male breast cancer (MBC) and its survival outcomes in Korea, and to compare these results to those for female breast cancer (FBC). @*Materials and Methods@#We searched the Korea Central Cancer Registry and identified 227,122 breast cancer cases that were diagnosed between 1999 and 2016. Demographic and clinical characteristics and overall survival (OS) rates were estimated according to sex, age, histological type, and cancer stage. @*Results@#The 227,122 patients included 1,094 MBC cases and 226,028 FBC cases. Based on the age-standardized rate, the male: female ratio was 0.0055:1. The most common ages at diagnosis were 60-69 years for MBC and 40-49 years for FBC (p < 0.001). Male patients were less likely than female patients to receive adjuvant radiotherapy (7.5% vs. 21.8%, p < 0.001) or adjuvant chemotherapy (40.1% vs. 55.4%, p < 0.001). The 5-year OS rates after diagnosis were 88.8% for all patients, although it was significantly lower for MBC than for FBC (76.2% vs. 88.9%, p < 0.001). In both groups, older age (≥ 60 years) was associated with shorter survival. The 5-year OS rates for the invasive histological types were 75.8% for men and 89.0% for women. The 5-year OS rates in both groups decreased with increasing cancer stage. @*Conclusion@#MBC was diagnosed at older ages than FBC, and male patients were less likely to receive radiotherapy and chemotherapy. The survival outcomes were worse for MBC than for FBC, with even poorer outcomes related to older age, the inflammatory histological types, and advanced stage. It is important that clinicians recognize the differences between FBC and MBC when treating these patients.

19.
Article in English | WPRIM | ID: wpr-764298

ABSTRACT

BACKGROUND: This study was conducted to explore the effect of known risk factors, focusing on risk factors including age at menarche, age at menopause, number of children, family history of breast cancer, and age at first birth according to breast density, in consideration of interaction among East-Asian women. METHODS: Case-control study with 2,123 cases and 2,121 controls with mammographic density was conducted. Using the mammographic film, breast density was measured using Breast Imaging-Reporting and Data System. To identify the association of selected reproductive factors including age at menarche, age at menopause, number of children, family history of breast cancer, and age at first birth according to breast density, stratified analysis was conducted according to breast density groups and interaction effects was assessed. The results were presented with adjusted OR and 95% CIs. RESULTS: Significant interaction effect between age at first birth and breast density on breast cancer (P = 0.048) was observed. Women with age at first birth ≥ 28 years old showed increased breast cancer risk in extremely dense breast group (≥ 75%) (OR = 1.627, 95% CI = 1.190–2.226). However, women with fatty breast (< 50%) and heterogeneously dense breast (50%–75%) did not show an increased association. Age at menarche, age at menopause, number of children, and family history of breast cancer did not show significant interaction with breast cancer and similar risk patterns were observed. CONCLUSIONS: Age at first birth showed significant interaction with breast density on breast cancer risk. Further studies considering biologically plausable model between exposure, intermediate outcomes and breast cancer risk with prospective design need to be undertaken in East Asian women.


Subject(s)
Asians , Birth Order , Breast Neoplasms , Breast , Case-Control Studies , Child , Female , Humans , Information Systems , Menarche , Menopause , Prospective Studies , Reproductive History , Risk Factors
20.
Article in Korean | WPRIM | ID: wpr-766423

ABSTRACT

PURPOSE: Radial head fractures, which account for 33% of all fractures, are treated depending on the Mason classification. In comminuted type 3 fractures, open reduction internal fixation (ORIF), and radial head arthroplasty are the treatment options. This study examined the clinical outcome of modified Mason type 3 radial head fractures using ORIF with a plate. MATERIALS AND METHODS: The medical records and image of 33 patients, who underwent ORIF for modified Mason type 3 radial head fractures, were reviewed retrospectively. The preoperative plain radiographs and computed tomography images were used to examine the location of the fracture of the radial head, the number of fragments, union, joint alignment, and traumatic arthritis at the final follow-up. The range of motion (ROM) of the elbow at the last follow-up, pain score (visual analogue scale), modified Mayo elbow score (MMES), and complications were analyzed for the clinical outcome. RESULTS: Of the 33 cases, 14 were men and 19 were women. The mean age was 41.8 years and the average follow-up period was 19 months. The functional ROM was divided into three groups according to the number of bone fragments: 141.2°±9.3° of 3 (n=20), 123.8°±18.5° of 4 (n=7), 100.7°±24.4° of more than 4 (n=6). Furthermore, the MMES were 88.2±2.9, 83.7±4.3, and 77.3±8.4, respectively (p=0.027). Depending on the radial head fracture location, the ROM and MMES were 130.7°±7.5° and 82.1±4.7, respectively, with poor outcomes on the ulnar aspect compared to 143.1°±3.8° and 89.9±3.2 on the radial aspect. CONCLUSION: Various factors, such as the degree of crushing and location involved in the clinical outcome. In particular, the result was poor in the case of more than four comminuted fragments or chief position located in the ulnar aspect. In this case, radial head arthroplasty may be considered in the early stages.


Subject(s)
Arthritis , Arthroplasty , Classification , Elbow , Female , Follow-Up Studies , Fractures, Open , Head , Humans , Joints , Male , Medical Records , Range of Motion, Articular , Retrospective Studies
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