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1.
Chinese Journal of Neurology ; (12): 143-150, 2023.
Article in Chinese | WPRIM | ID: wpr-994811

ABSTRACT

Objective:To investigate the clinical, pathological and genetic characteristics of myopathy-type very long chain acyl-coenzyme A dehydrogenase deficiency (VLCADD).Methods:The detailed clinical data, muscle biopsy pathology and molecular results of 4 patients with genetically confirmed myopathy-type VLCADD admitted to Henan Provincial People′s Hospital and Xuanwu Hospital, Capital Medical University from June 2014 to November 2019 were retrospectively analyzed.Results:All of the 4 patients were late-onset myopathy-type VLCADD. The onset age ranged from 13 to 16 years, with a mean age of 14.5 years. The age at diagnosis ranged from 21 to 54 years, with a mean age of 42.5 years. The main clinical manifestation was repeated rhabdomyolysis, including myalgia, weakness and dark urine. Obvious somnolence was observerd in 1 patient. Muscle biopsy pathology revealed mild lipid accumulation, without vacuoles. Six ACADVL variations were detected in the 4 patients, including c.1283G>A (p.R428H), c.1532G>A (p.R511Q), c.833_835delAGA (p.K278del), c.1843C>T (p.R615 *), c.1748C>T (p.S583L) and c.1391C>T (p.T464I),among which c.1391C>T (p.T464I) was a novel variation, predicted to be likely pathogenic. Other 5 variations were reported pathogenic variations. Conclusions:Myopathy-type VLCADD is characterized by paroxysmal rhabdomyolysis and can be associated with somnolence. There is no specificity in muscle pathology. There are ACADVL variations, among which c.1391C>T is a novel variation.

3.
Chinese Journal of Ocular Fundus Diseases ; (6): 289-296, 2022.
Article in Chinese | WPRIM | ID: wpr-934309

ABSTRACT

Objective:To evaluate the functional and anatomical outcomes of autologous single retinal pigment epithelium (RPE) transplantation for severe obsolete submacular hemorrhage (SMH) in late age-related macular degeneration (AMD).Methods:A retrospective clinical study. From January 2012 to December 2015, 11 patients with AMD (11 eyes) with obsolete SMH who were diagnosed and treated by pars plana vitrectomy (PPV) combined with autologous RPE transplantation at the Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were included. Among them, there were 9 eyes in 9 males and 2 eyes in 2 females. All the eyes underwent the examinations of best corrected visual acuity (BCVA) and optical coherence tomography; 4 eyes underwent macular fixation function (MAIA) at the same time. The BCVA examination was carried out using the international standard visual acuity chart, which was converted into logarithm of the minimum angle of resolution (logMAR) visual acuity during statistics. All eyes were treated with PPV combined with autologous single-layer RPE transplantation or autologous RPE-choroidal full-thickness transplantation, and were divided into S group and C group, with 5 and 6 eyes respectively. The differences of age ( t=-0.363), gender composition ratio ( χ2=0.549), course and thickness of SMH ( t=0.118, 0.231), average times of anti-vascular endothelial growth factor drug treatments ( t=0.129), times of PPV ( t=-0.452) between the two groups were not statistically significant ( P>0.05). The follow-up period was 6-40 months after the operation, and the BCVA, MAIA, graft status and complications of the eyes after the operation were observed. The comparison of continuous variables between groups was performed by independent-sample t test; the comparison of categorical variables was performed by χ2 test. Results:At the last follow-up, the average logMAR BCVA of the eyes in group S and C were 1.62±0.34 and 1.03±0.20, respectively; group C was better than group S, however, the difference was not statistically significant ( t=1.532, P=0.160). There were 4 eyes (80%, 4/5) and 6 eyes (100%, 6/6) in S group and C group with BCVA better than preoperative, the difference was no statistical significance ( χ2=0.677, P=0.895). There were 2 (40%, 2/5) and 3 (50%, 3/6) eyes with logMAR BCVA better than 1.0 in S group and C group, and the difference was not statistically significant ( χ2=0.572, P=0.423). After the operation, 6 eyes of grafts were in good condition and 5 eyes were in poor condition; the BCVA of grafts in good condition was significantly higher than that of poor condition, the difference was statistically significant ( t=4.894, P=0.001). Among the 4 eyes that underwent MAIA examination, 2 eyes were unstable and diffusely fixed on the graft; the fixation point was located at the normal retina adjacent to the graft area in 2 eyes. Secondary subretinal hemorrhage occurred in 3 eyes after the operation; the intraocular pressure was high in 1 eye after the operation. During the follow-up period, no intraocular infection, secondary retinal detachment, recurrent choroidal neovascularization or low intraocular pressure occurred in all eyes. Conclusions:Both autologous single-layer RPE transplantation and autologous RPE-choroidal full-thickness transplantation can help stabilize or even improve the visual function of eyes with severe SMH secondary to advanced AMD. The visual acuity after surgery is closely related to the state of the graft.

4.
Chinese Journal of Neurology ; (12): 140-145, 2022.
Article in Chinese | WPRIM | ID: wpr-933770

ABSTRACT

Objective:To improve the clinician′s recognition of the clinical and molecular characteristics of primary familial brain calcification (PFBC).Methods:The detailed clinical information, imaging and molecular characteristics were analyzed in proband and family members of a genetically confirmed autosomal recessive PFBC family. The clinical and imaging features of junctional adhesion molecule 2 (JAM2) gene related PFBC were analyzed in combination with the literature review.Results:The proband was a 32-year-old man, with slurred speech and paroxysmal limb twitch as the first symptoms, accompanied by cognitive dysfunction, and rigidity in the limbs, with epilepsy in the past. Brain CT showed extensive, symmetrical, and bilateral calcification involving the cerebellum, basal ganglia, thalamus, subcortex and cortex. Other family members showed no related clinical symptoms. Brain CT of the parents of the proband showed no calcification. Gene testing of the proband revealed a homozygous c.685C>T(p.R229*) mutation in JAM2 gene, which has been reported as a pathogenic variation abroad, whereas has not been reported in China. The proband′s parents and children were found with heterozygous c.685C>T (p.R229*) mutation.Conclusions:Autosomal recessive inherited PFBC is a rare disease, and JAM2 mutation is a newly discovered pathogenic gene of PFBC in 2020. Patients with intracranial calcification should be alert of JAM2 gene mutation.

5.
Chinese Journal of Radiology ; (12): 631-635, 2022.
Article in Chinese | WPRIM | ID: wpr-932544

ABSTRACT

Objective:To explore the feasibility of predicting axillary lymph node metastasis of breast cancer using radiomics analysis based on dynamic contrast-enhanced (DCE) MRI.Methods:The retrospective study enrolled 163 patients (163 lesions) with breast cancer diagnosed by core needle biopsy from January 2013 to December 2013 in Peking University First Hospital. The status of axillary lymph nodes in all patients was pathologically confirmed, and they had complete preoperative breast MRI images. Among the 163 patients, 94 patients were confirmed with axillary lymph node metastasis, and 69 patients without axillary lymph node metastasis. They were randomly divided into the training dataset ( n=115) and testing dataset ( n=48) in a 7∶3 ratio. The radiomics analysis was performed in the training dataset, including image preprocessing and labeling, radiomics feature extraction, radiomics model establishment and model predictive performance inspection. Model performance was tested in the testing dataset. Receiver operating characteristic curve and area under curve (AUC) was used to analyze the model prediction performance. Results:Of the 1 075 features extracted from the training dataset, principal component analyses (PCA) features 8, 41 and 67 were selected by random forest classifier. The radiomics model including 3 PCA features reached an AUC of 0.956 (95%CI 0.907-0.988), with sensitivity of 91.2%, specificity of 100% and accuracy of 94.8%. In the testing dataset, the radiomics model including 3 PCA features reached an AUC of 0.767 (95%CI 0.652-0.890), with sensitivity of 80.8%, specificity of 72.7% and accuracy of 77.1%.Conclusion:It is feasible to predict axillary lymph node metastasis using radiomics features based on DCE-MRI of breast cancer.

6.
Chinese Journal of Radiology ; (12): 1015-1020, 2022.
Article in Chinese | WPRIM | ID: wpr-956756

ABSTRACT

Objective:To compare the imaging features of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 RCC) with chromophobe RCC.Methods:From November 2016 to January 2020, 28 patients with Xp11.2 RCC and 28 patients with chromophobe RCC confirmed by pathology were retrospectively analyzed in Peking University First Hospital. All 23 patients underwent preoperative CT examination, and 5 patients underwent routine MRI in each group. The clinical and imaging features were observed and recorded. The CT features including side, location, size, boundary, shape, uniform density, composition (solid, cystic-solid, cystic), hemorrhage, calcification, lymph node metastasis of the lesions and distant metastasis were observed, and the CT value of the solid part of the tumor at each stage was measured. On MRI images, the signal of the lesion in each sequence and enhancement mode were observed. The differences in clinical and imaging characteristics between the 2 groups were compared using independent samples t test or χ 2 test. Results:The Xp11.2 RCC more frequently affected young [(27±10) years] patients, while chromophobe RCC more frequently involved middle-aged [(37±7) years] patients asymptomatically, and the difference was statistically significant ( t=-4.99, P<0.001). The lesion size of Xp11.2 RCC [(5.4±2.2) cm] were significantly smaller than that of chromophobe RCC [(6.9±1.8) cm] ( t=-2.93, P=0.005). There were significant differences in the density and composition of lesions between Xp11.2 RCC and chromophobe RCC (χ 2=4.60, 18.67, P=0.032,<0.001). There were no significant differences in the side, location, boundary, shape, hemorrhage, calcification, fat, lymph node metastasis and distant metastasis between the 2 kind of lesions (all P>0.05). The CT values of solid components in Xp11.2 RCC in cortico-medullary phase and delayed phase were higher than those in chromophobe RCC, and the difference were statistically significant ( t=11.80, 20.15, both P<0.001). Five cases of Xp11.2 RCC showed iso- or slightly hyperintense signal on T 1WI and slightly hypointense signal on T 2WI. Two cases showed delayed enhancement after enhancement, and 3 cases showed a slight decrease in delayed phase enhancement. Conclusion:Compared with chromophobe RCC, Xp11.2 RCC has certain characteristics in imaging manifestations (lesion size, density uniformity, composition, CT value of post-enhanced cortico-medullary phase and delayed phase). Imaging manifestations combining the clinical manifestations (age of onset) are helpful for preoperative diagnosis of Xp11.2 RCC.

7.
Chinese Journal of Radiology ; (12): 976-981, 2022.
Article in Chinese | WPRIM | ID: wpr-956750

ABSTRACT

Objective:To explore the feasibility of classification between carcinoma in situ and invasive carcinoma of breast using intratumoral and peritumoral radiomics based on breast dynamic contrast-enhanced (DCE) MRI.Methods:The retrospective study included consecutive invasive breast carcinoma pathological diagnosed by core needle biopsy or surgery from January 2013 to December 2013 and carcinoma in situ of breast diagnosed by surgery from January 2013 to December 2015 in Peking University First Hospital. All patients had pretreatment breast MRI images. A total of 251 cases (251 lesions) were included, with 208 invasive breast carcinoma and 43 carcinoma in situ of breast. They were all females and median age was 53 (23-82) years old. Patients were randomly divided into the training ( n=176) and testing dataset ( n=75) in a 7∶3 ratio. In the training dataset, combined with DCE mask and early enhancement images, intratumoral and peritumoral area were semi-automatic segmentation, and radiomics features were extracted and dimension reduction, finally a prediction model was established. Model performance was tested in the testing dataset. Receiver operating characteristic (ROC) curve and area under curve (AUC) were used to analyze the model prediction performance. Results:The prediction models established by intratumoral, peritumoral and intratumoral combined with peritumoral radiomics had good performance. The AUC of intratumoral, peritumoral and intratumoral combined with peritumoral radiomics prediction models in differentiating breast carcinoma in situ and invasive carcinoma were 0.865, 0.896 and 0.922 in the testing dataset, there was no significant difference in pairwise comparisons ( P>0.05). The sensitivity of intratumoral, peritumoral and intratumoral combined with peritumoral radiomics prediction models were 77.4%, 87.1%, 83.9%, the specificity were 92.3%, 84.6%, 100%, and the accuracy were 80.0%, 85.3%, 86.7%. Conclusion:It is potential feasible for classification between carcinoma in situ and invasive carcinoma of breast using intratumoral and peritumoral radiomics based on breast DCE MRI.

8.
Acta Pharmaceutica Sinica B ; (6): 3994-4007, 2021.
Article in English | WPRIM | ID: wpr-922455

ABSTRACT

Vascular smooth muscle cell (VSMC) migration plays a critical role in the pathogenesis of many cardiovascular diseases. We recently showed that TMEM16A is involved in hypertension-induced cerebrovascular remodeling. However, it is unclear whether this effect is related to the regulation of VSMC migration. Here, we investigated whether and how TMEM16A contributes to migration in basilar artery smooth muscle cells (BASMCs). We observed that AngII increased the migration of cultured BASMCs, which was markedly inhibited by overexpression of TMEM16A. TMEM16A overexpression inhibited AngII-induced RhoA/ROCK2 activation, and myosin light chain phosphatase (MLCP) and myosin light chain (MLC20) phosphorylation. But AngII-induced myosin light chain kinase (MLCK) activation was not affected by TMEM16A. Furthermore, a suppressed activation of integrin

9.
Chinese Journal of Neurology ; (12): 336-342, 2021.
Article in Chinese | WPRIM | ID: wpr-885425

ABSTRACT

Objective:To report a Chinese family with a novel ABCD1 gene mutation at c.332T>G (p.V111G) site and discuss its clinical characteristics and molecular mechanism.Methods:The clinical data, laboratory examination, and imaging examination results were analyzed to make the clinical diagnosis of a middle-aged onset patient from the First Affiliated Hospital of Zhengzhou University in May 2017. High-throughput sequencing was used to discover a novel ABCD1 gene mutation. Sanger sequencing was used to find out whether other family members contain the same ABCD1 gene mutation. The pathogenicity of this mutation was explored by protein structure prediction and pathogenicity analysis. Adrenoleukodystrophy protein-green fluorescent protein (ALDP-GFP) and ALDP-GFP (V111G) plasmids were constructed and human embryonic kidney 293 cells were transfected, then immunofluorescence and Western blotting were used to explore the molecular mechanism of this mutation (completed in Henan Provincial People′s Hospital).Results:The proband (a 39-year-old male) was diagnosed as adrenomyeloneuropathy, a subset of X-linked adrenoleukodystrophy, with a novel heterozygous missense mutation in the ABCD1 gene at c.332T>G (p.V111G) site, and his mother and two daughters were all carriers. Protein structure prediction and pathogenicity results suggested that this mutation is pathogenic. Overexpression of ALDP-GFP (V111G) in the human embryonic kidney 293 cells resulted in a significant decrease in the expression levels of ALDP and the abnormal localization from the peroxisomal membrane to the cytoplasm, accompanied by significant down-regulation of LC3-Ⅱ/LC3-Ⅰ and beclin-1.Conclusion:c.332T>G (p.V111G) is a novel pathogenic mutation in the ABCD1 gene, which causes adrenomyeloneuropathy by impairing autophagy.

10.
Chinese Journal of Internal Medicine ; (12): 535-539, 2020.
Article in Chinese | WPRIM | ID: wpr-870170

ABSTRACT

Objective:To investigate the clinical, myopathological and genetic mutation characteristics in two Chinese families with paramyotonia congenita (PMC).Methods:Clinical manifestations, electrophysiology, muscle pathology and gene sequencing of two Chinese families with PMC were analyzed retrospectively.Results:Family 1 involved 12 patients in 4 consecutive generations and family 2 involved only 1 patient in 3 generations. The onset of symptoms in all patients started at early childhood. Both probands presented with myotonia triggered by cold and paroxysmal weakness. However, the other 11 patients in family 1 only manifested cold-induced myotonia. Serum creatine kinase (CK) was slightly elevated between attacks of weakness in the 2 probands, and was even greater than 10 000 U/L during the episodes of weakness in the second proband, whose lower limb MRI revealed edema in bilateral medial gastrocnemius. Electromyography showed diffuse myotonia discharge and myogenic impairment in both probands, and myotonia discharge in the first proband′s mother. Muscle pathology of both probands showed mild myopathic changes, and tube aggregation was occasionally observed in the second one. Genetic testing revealed a maternally inherited heterozygous R1448H mutation of SCN4A gene in the first proband and part of his family. A novel heterozygous R1448G mutation of SCN4A gene was reported in the second proband.Conclusions:Cold-triggered myotonia with or without paroxysmal weakness are the common characteristics of PMC. Myotonic potential and myogenic impairment can be tested in electromyography. The p.R1448G mutation is a new missense mutation.

11.
Chinese Journal of Medical Genetics ; (6): 1261-1264, 2020.
Article in Chinese | WPRIM | ID: wpr-879481

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a pedigree affected with hereditary spastic paraplegia type 4 (HSP4).@*METHODS@#Peripheral venous blood samples were taken from members of the four-generation pedigree and 50 healthy controls for the extraction of genomic DNA. Genes associated with peripheral neuropathy and hereditary spastic paraplegia were captured and subjected to targeted capture and next-generation sequencing. The results were confirmed by Sanger sequencing.@*RESULTS@#DNA sequencing suggested that the proband has carried a heterozygous c.1196C>G variant in exon 9 of the SPAST gene, which can cause substitution of serine by threonine at position 399 (p.Ser399Trp) and lead to change in the protein function. The same variant was also detected in other patients from the pedigree but not among unaffected individuals or the 50 healthy controls. Based on the ACMG 2015 guidelines, the variant was predicted to be possibly pathogenic.@*CONCLUSION@#The c.1196C>G variant of the SPAST gene probably underlay the HSP4 in this pedigree.


Subject(s)
Humans , Base Sequence , Mutation , Paraplegia/genetics , Pedigree , Sequence Analysis, DNA , Spastic Paraplegia, Hereditary/genetics , Spastin/genetics
12.
Chinese Journal of Medical Genetics ; (6): 918-921, 2019.
Article in Chinese | WPRIM | ID: wpr-797495

ABSTRACT

Objective@#To explore phenotypic and mutational characteristics of a pedigree affected with autosomal dominant Charcot-Marie-Tooth disease (CMT) and nephropathy.@*Methods@#Clinical data of the proband and his family members was collected. Electrophysiology, renal biopsy and next-generation sequencing were carried out for the proband.@*Results@#The proband presented with distal lower limb weakness and proteinuria in childhood. His mother and brother had similar symptoms. Electrophysiological test of the proband revealed demyelination and axonal changes in both motor and sensory nerves. Renal biopsy suggested focal segmental glomerulosclerosis. Genetic testing revealed a heterozygous c. 341G>A (p.G114D) mutation in exon 2 of the INF2 gene.@*Conclusion@#The phenotypic feature of the pedigree is autosomal dominant intermediate CMT and focal segmental glomerulosclerosis, which may be attributed to the c. 341G>A mutation of the INF2 gene.

13.
Chinese Journal of Medical Genetics ; (6): 918-921, 2019.
Article in Chinese | WPRIM | ID: wpr-776775

ABSTRACT

OBJECTIVE@#To explore phenotypic and mutational characteristics of a pedigree affected with autosomal dominant Charcot-Marie-Tooth disease (CMT) and nephropathy.@*METHODS@#Clinical data of the proband and his family members was collected. Electrophysiology, renal biopsy and next-generation sequencing were carried out for the proband.@*RESULTS@#The proband presented with distal lower limb weakness and proteinuria in childhood. His mother and brother had similar symptoms. Electrophysiological test of the proband revealed demyelination and axonal changes in both motor and sensory nerves. Renal biopsy suggested focal segmental glomerulosclerosis. Genetic testing revealed a heterozygous c.341G>A (p.G114D) mutation in exon 2 of the INF2 gene.@*CONCLUSION@#The phenotypic feature of the pedigree is autosomal dominant intermediate CMT and focal segmental glomerulosclerosis, which may be attributed to the c.341G>A mutation of the INF2 gene.


Subject(s)
Child , Female , Humans , Male , Charcot-Marie-Tooth Disease , Genetics , Glomerulosclerosis, Focal Segmental , Genetics , Heterozygote , Microfilament Proteins , Genetics , Mutation , Pedigree
14.
Chinese Journal of Ultrasonography ; (12): 247-251, 2018.
Article in Chinese | WPRIM | ID: wpr-707663

ABSTRACT

Objective To investigate the value of synchronous recording of Doppler blood flow spectrum of fetal pulmonary artery and vein in quantitative measurement of fetal heart conduction time. Methods A total of 221 fetuses aged 16-41 weeks were enrolled in this study.Each fetus was measured by pulsed Doppler (PD),tissue Doppler (DTI) and pulmonary arteriovenous synchrony (PA-PV). Atrioventricular conduction time (AV) and the time period from ventricular contraction began to shrink to the next cardiac atrial contractions (VA) were recorded for comparing the consistency of three measure methods.Results ①The AV and VA obtained by three different measurement methods have no significant difference after any comparison( P >0.05). ②There was a significant positive correlation between AV and gestational age (r= 0.825, P = 0.000). There was a weak correlation between VA and gestational age (r=0.216,P =0.000). ③AV was negatively related to heart rate ( r = -0.236,P =0.000);VA was negatively related to heart rate( r = -0.860,P =0.000). ④There was a positive correlation between AV and biparietal diameter ( r = 0.188, P = 0.005). There was no significant correlation between VA and biparietal diameter ( r = 0.054, P = 0.428). ⑤ AV and VA in different gestational weeks fetuses were analyzed by ANOVA. The differences in AV among PD,DTI and PA-PV groups were statistically significant ( P =0.014),AV > 36 weeks was the longest,and there was no significant difference in VA among PD,DTI and PA-PV groups ( P =0.941). ⑥ According to different biparietal diameter grouping, the differences in AV among PD,DTI and PA-PV groups were statistically significant ( P = 0.004),and biparietal diameter was 8~9 cm.There was no significant difference in VA among PD,DTI and PA-PV groups ( P = 0.829). Conclusions PA-PV method,PD method and DTI determination of fetal heart conduction time have the same clinical value,the measured data can be used as a clinical reference value, quantitative analysis of fetal arrhythmia has important clinical potential value.

15.
Chinese Journal of Radiology ; (12): 919-922, 2018.
Article in Chinese | WPRIM | ID: wpr-734283

ABSTRACT

Objective To investigate the significance of the objective audit system of mammography diagnostic report in evaluating the diagnostic mammography practice in Peking University First Hospital.Methods According to the regulations issued by the US Food and Drug Administration (FDA 1992) and the mammographic practice parameters recommended by the American College of Radiology (ACR 2013),we retrospectively analyzed the diagnostic mammographic reports in Peking University First Hospital from November 14,2015 to November 14,2016.We calculated the diagnostic sensitivity,specificity,positive predictive value (PPV2),and the third positive predictive value (PPV3).The pathological and follow-up results(the negative patient)were used as the golden standard.All data were compared with the reference data of United States mammography diagnostic report system.Results A total of 1 779 mammography diagnostic reports were analyzed,including 137 malignant cases and 1 642 benign cases.The sensitivity of diagnosis of malignant breast lesions was 93.4% (128/137),the specificity was 95.2% (1 563/1 642),PPV2 was 61.8% (128/207) and PPV3 was 83.1%(128/154).Compared with the recommended target value (sensitivity>85.0%,specificity>90.0%,PPV2:25.0%~40.0%),most statistical data were within the recommended range except PPV2 and PPV3,which werehigher.Conclusions The quality of the mammographic report in Peking University First Hospital reached the recommended level in the United States.However,the low proportion of recommendation of biopsy suggested a possibility of missed diagnosis.

16.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 327-331, 2017.
Article in Chinese | WPRIM | ID: wpr-620003

ABSTRACT

Objective To explore any effect of repetitive transcranial magnetic stimulation (rTMS) on the cognitive ability of patients suffering from cognitive impairment after cerebral venous thrombosis (CVT).Methods Forty-three CVT patients with cognitive impairment were recruited and randomly assigned into an rTMS group (n =23) or a control group (n=20).Both groups received routine drug therapy and cognitive function training,while the rTMS group was additionally given rTMS.The treatment lasted 4 weeks.The Montreal cognitive assessment (MoCA),the Hamilton depression scale (HAMD),the modified auditory Barthel Index (MBI) and event-related potential P300 were used to test both groups before and after the treatment.Results After the treatment the average MoCA and MBI scores of both groups had increased significantly,while their average HAMD scores had decreased significantly compared to before the treatment.For both groups,the P300 latency had shortened significantly and the amplitude increased significantly after the treatment.The improvement in all of these indicators was significantly greater in the rTMS group than in the control group.Conclusion Supplementing drug therapy with rTMS can significantly improve the cognitive ability of CVT patients and is worth applying in clinical practice.

17.
Acta Laboratorium Animalis Scientia Sinica ; (6): 235-240, 2017.
Article in Chinese | WPRIM | ID: wpr-619498

ABSTRACT

Objective To find an ideal animal model of acute respiratory distress syndrome (ARDS) through investigating the characteristics of three two-hit animal models of ARDS.Methods Forty-eight SD rats were randomly divided into 4 groups: Control group [2.5 mL/kg normal saline (NS) i.v.given at 0 min and 30 min];OA+OA group [0.5 mL/kg oleic acid (OA) i.v.given at 0 min and 30 min];LPS+LPS group [2.5 mg/kg lipopolysaccharide (LPS) i.v.given at 0 min and 30 min];and OA+LPS group [0.5 mL/kg OA i.v.given at 0 min and 2.5 mg/kg LPS,i.v.given at 30 min].The samples were collected at 5 h after the second drug injection.White blood cells count (WBC),polymorphonuclear leukocyte ratio (PMN%),total protein concentration,tumor necrosis factor α (TNF-α) level in bronchoalveolar lavage fluid (BALF),arterial blood gas analysis and lung wet-dry weight ratio (W/D) were measured,respectively.Pathological changes in the lung tissues were observed and histological scores were evaluated.Results Compared with those in the control group,PaCO2,WBC,PMN%,total protein concentration and TNF-α levels in BALF were significantly increased,while PaO2 was dramatically decreased (P<0.01) in the OA+OA,LPS+LPS and OA+LPS groups.The levels of protein concentration in BALF and lung W/D ratio in the OA+LPS group were significantly higher than these in the LPS+LPS group (P<0.05 for all),but had no statistically significant difference compared with these in the OA+OA group.The levels of WBC,PMN% and TNF-α in BALF in the OA+LPS group were significantly higher than those in the OA+OA group (P<0.05),but not significantly different from those in the LPS+LPS group.The most typical pathological changes and the highest pathological scores were found in the OA+LPS group.Conclusions All the three different methods including OA+OA,LPS+LPS,and OA+LPS can be used to establish “two-hit” animal models of acute respiratory distress syndrome.The “two-hit” animal model of acute respiratory distress syndrome induced by OA+LPS is more closer to clinical ARDS and is useful for studies on the pathophysiology of ARDS,and is an ideal “two-hit” animal model of ARDS.

18.
Chinese Journal of Trauma ; (12): 750-755, 2017.
Article in Chinese | WPRIM | ID: wpr-609863

ABSTRACT

Objective To evaluate the clinical outcomes of different flaps for repairing the soft tissue defects of heels.Methods A total of 26 patients with soft tissue defects around the heel treated modified propeller perforator flap,medialis pedis flap,or anterolateral thigh flap from March 2012 to June 2016 were analyzed retrospectively.There included 19 males and 7 females,aged 4-64 years (mean,38.1 years).There were 9 patients with posterior heel defect,3 with weight-bearing defect,6 with posterior medial defect and 8 with posterolateral defect.The wound areas were from 6.0 cm × 4.0 cm to 12.0 cm × 9.5 cm,while the flap areas were from 7.0 cm × 5.0 cm to 13.5 cm × 10.5 cm.According to the principle of flap selection,the pedicled skin flap instead of free skin flap was selected in order to minimize damage to the donor site area.Modified propeller perforator flap was applied in 13 patients,medialis pedis flap in 3 patients and anterolateral thigh flap in 14 patients.The flap donor site was directly sutured in 23 patients and a simultaneous skin graft was applied in 3 patients.The survival rate,appearance,texture and feeling recovery of flaps,complications,walking ability,and the status of donor sites were compared.Besides,postoperative functions of all cases were estimated according to foot scoring scale of American Orthopaedic Foot and Ankle Society (AOFAS).Results All flaps survived well in 26 patients.The wounds of flaps and flap donor sites were healed at Ⅰ stage.A total of 24 patients were followed up for 12-36 months (average 16 months).The appearance,color and texture of the flaps were good.There was no ulcer in flaps or flap donor sites.The protective feeling of flaps was recovered and the feeling of distinguishing two points was 6-13 mm.Modified propeller perforator flap donor site was directly sutured,the wound of which showed a linear healing.There was no fat deformity or obvious scar formation around ankle.The skin graft of the medialis pedis flap donor site was healed well,without scar hyperplasia,rupture,or deformity of arch.The anterolateral thigh flap was healed linearly without scar,and the anterolateral skin felt slightly depressed.The muscle strength of the four biceps femoris muscle was 4.According to AOFAS score,the feet's functions were evaluated as excellent in 5,good in 16,fair in 4,and poor in 1,with excellence rate of 81%.Conclusions For different soft tissue defects of the heels,propeller perforators flap,medial plantar flap or anterolateral thigh flap can not only attain appearance reconstruction of the defects and good functional recovery,but also minimize the injury of flap donor site.

19.
Chinese Journal of Neurology ; (12): 118-122, 2016.
Article in Chinese | WPRIM | ID: wpr-488005

ABSTRACT

Objective To investigate the correlation of plasma interleukin ( IL)-17 level and IL-17 receptor (IL-17R) expression in the thymus of patients with myasthenia gravis (MG).Methods The blood samples of 63 patients (38 with glucocorticoid treatment, 25 with thymus removal) who admitted to Henan Provincial People′s Hospital between 2010 and 2014 were collected at three different stages: pre-treatment, 1 week post-treatment and 1 month post-treatment.The blood samples of 42 healthy controls were also collected.Enzyme linked immunosorbent assay was used to evaluate the levels of IL-17 in plasma.Twenty-five thymus tissues from MG patients and another 12 thymus tissues from patients with congenital heart disease who had surgery therapy were also collected.Reverse transcription polymerase chain reaction was used to evaluate the mRNA levels of IL-17R.The possible correlation between the expression of IL-17 and IL-17R with MG was analyzed.Results Before treatment, the levels of IL-17 in the plasma were much higher in all the MG patients ( both ocular and generalized) when compared to the healthy controls ( controls (3.2 ±0.7) pg/ml, MG patients (8.5 ±1.7) pg/ml, t =2.450, P 0.05, compared to the healthy controls).In the surgery therapy cases, the IL-17 levels were also reduced after the thymus removal ( pre-surgery (8.8 ±1.4) pg/ml, 1 week after surgery (5.3 ±0.7) pg/ml, t=1.950, P<0.05;1 month after surgery (3.0 ±0.4) pg/ml, t=2.683, P<0.01).In the thymus tissues of the MG patients, the mRNA levels of IL-17R were much higher than that of the controls ( relative level 2.31 folds, t =2.682, P <0.01).Meanwhile, a positive correlation was found between the plasma IL-17 levels and the relative IL-17R levels in thymus tissues ( r =0.945 4, P <0.01 ).Furthermore, IL-17 was positively correlated with quantitative myasthenia gravis scores (QMGS) either pre-treatment (r =0.798 1, P <0.01) or post-treatment (r=0.906 5, P<0.01).And IL-17R was positively correlated with QMGS pre-treatment (r=0.775 5, P<0.01).Conclusions IL-17 is increased in the plasma of MG patients (both ocular and generalized) , and is decreased upon the glucocorticoid treatment or surgery therapy, suggesting that it can be used as a parameter to determine the therapeutic effects.IL-17R is increased in the thymus tissues of MG patients, suggesting that it can potentially be used as a pathological diagnosis parameter.

20.
Chinese Journal of Nephrology ; (12): 568-572, 2016.
Article in Chinese | WPRIM | ID: wpr-502516

ABSTRACT

Objeetive To analyze the clinicopathologic features of proliferative sclerosing IgA nephropathy and the efficacy of prednisone therapy.Methods A retrospective analysis was conducted,enrolling 50 patients with biopsy-proven primary proliferative sclerosing IgA nephropathy who were admitted in the Hospital from January 2005 to June 2015-26 males and 24 females,mean age (36.8 ± 10.4) years.Clinicopathologic features and prednisone therapeutic effect were analyzed.Results The clinical manifestations of 50 cases were nephritis syndrome with varying degrees of renal insufficiency,including 32 cases (64.0%) with hypertension,15 cases (30.0%) with microscopic hematuria.Renal biopsy showed the incidence of glomerular global sclerosis was 17.0%-47.2%,tubular atrophy/ interstitial fibrosis outstanding (T0 50%,T1 32%,T2 18%).After prednisone treatment,compared with sustained remission group and relapse group,invalid patients had higher incidence of hypertension (P < 0.05),relatively lower Hb (P < 0.01) and serum albumin,more significant renal dysfunction (P < 0.01),more severe glomerular global sclerosis,segmental sclerosis,tubular atrophy/ interstitial fibrosis,while the lower interstitial inflammatory cell infiltration.During the follow-up,which lasted from 6 to 132 months (median 27.3 months),the effective rate of treatment was 74.0% after sufficient prednisone or half dose prednisone therapy.Repeated recurrence rate was 32.0%.At the end of the follow-up period,13(26.0%) patients entered the stage of uremia.Conclusions Application of glucocorticoids in the treatment of proliferative sclerosing IgA nephropathy can protect renal function and delay the progression of renal impairment.The efficacy of glucocorticoids therapy is significantly associated with the presence or absence of hypertension,the degree of renal function impairment,and the severity of the onset of renal pathology.

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