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1.
Chinese Journal of Pathology ; (12): 28-32, 2022.
Article in Chinese | WPRIM | ID: wpr-935466

ABSTRACT

Objective: To investigate the clinicopathological features, molecular characteristics, differential diagnosis and prognosis of anaplastic lymphoma kinase (ALK)-translocation renal cell carcinoma. Methods: Two cases of ALK-translocation renal cell carcinoma diagnosed from January 2011 to December 2020 were retrospectively analyzed to characterize their morphological features, immunohistochemical expression and prognosis. Multiple molecular studies including fluorescence in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR), and next-generation sequencing were performed to characterize the genetic alterations. Results: Two patients included one male and one female, with 59 and 57 years old, respectively. Morphologically, case 1 resembled collecting duct carcinoma or renal medullary carcinoma, which demonstrated tubular, microcapsule and reticular structures, with a remarkable myxoid background and lymphocytes infiltration; case 2 resembled Xp11.2 translocation renal cell carcinoma or type 2 papillary renal cell carcinoma, which demonstrated tubular papillary and focal solid structures, with flocculent cytoplasm and many foamy histiocytes, but without myxoid background and lymphocytes infiltration. Immunohistochemistry showed strongly positive expression of ALK. CK7, E-cadherin, vimentin, PAX8 and CD10 showed various degrees of expression, and other antibodies were nonreactive. A variety of molecular assays showed definite ALK gene translocation, with rare VCL-ALK gene fusion (VCL exon and 16-ALK exon 20) in case 1, and EML4-ALK gene fusion (EML4 exon and 2-ALK exon 20) in case 2. Conclusions: ALK-translocation renal cell carcinoma is rare with various morphological features, and is easy to miss and misdiagnose. The characteristic ALK expression and molecular detection of ALK translocation are helpful for diagnosing this type of renal cell carcinoma.


Subject(s)
Anaplastic Lymphoma Kinase/genetics , Carcinoma, Renal Cell/genetics , Female , Humans , In Situ Hybridization, Fluorescence , Kidney Neoplasms/genetics , Lung Neoplasms , Male , Oncogene Proteins, Fusion/genetics , Retrospective Studies
2.
Chinese Journal of Pathology ; (12): 12-16, 2022.
Article in Chinese | WPRIM | ID: wpr-935463

ABSTRACT

Objective: To investigate the clinicopathological features, immunophenotype, ultrastructure, genetic alterations and prognosis of succinate dehydrogenase-deficient renal cell carcinoma (SDH RCC). Methods: A total of 11 SDH RCCs, diagnosed from 2010 to 2019, were selected from the Department of Pathology of Nanjing Jingling Hospital, Nanjing University School of Medicine for clinicopathologic, immunohistochemical (IHC), ultrastructural investigation and follow-up. The molecular features of seven cases were analyzed by the panel-targeted DNA next generation sequencing (NGS). Results: There were seven males and four females, with ages ranging from 24 to 62 years (mean 41.4 years, median 41 years). Microscopically, SDH RCC was mainly composed of solid and tubular structures with local cystic change. Four cases showed nested or trabecular structure distributed in a loose hypocellular connective tissue or around scar, similar to oncocytoma. The neoplastic cells demonstrated flocculent eosinophilic cytoplasm with typical intracytoplasmic vacuoles. Immunohistochemically, eight cases were negative for SDHB; three cases showed focal and weak expression, whereas normal renal tubular and vascular endothelial cells demonstrated strong cytoplasmic staining. NGS of DNA targeted-panel detected pathogenic mutations of SDHB gene in seven cases (including three cases with equivocal IHC expression of SDHB), without any mutations in other SDH related genes. There were four cases of SDHB missense mutation, one case of frameshift mutation, one case of splicing mutation, and one case of acquired stop codon mutation. Conclusions: SDH RCC is a distinct variant of RCCs with genetic tendency or with hereditary cancer syndrome. NGS is recommended to detect the related gene mutations for a definitive diagnosis. The patients should be closely followed up.


Subject(s)
Adult , Carcinoma, Renal Cell/genetics , Endothelial Cells , Female , Humans , Kidney Neoplasms/genetics , Male , Middle Aged , Prognosis , Succinate Dehydrogenase/genetics , Young Adult
3.
Chinese Journal of Urology ; (12): 234-236, 2022.
Article in Chinese | WPRIM | ID: wpr-933203

ABSTRACT

Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) is one of the common diseases in uroloandrology, which recurs easily after treatment. In recent years, the safety and efficacy of extracorporeal shock wave therapy (ESWT) for CP/CPPS has been widely demonstrated. Studies have shown satisfactory short-term (≤12 weeks) outcomes of ESWT, but lack long-term (>12 weeks) follow-up data. In addition, inconsistent indications and unexplained therapeutic mechanisms have limited the further clinical promotion of ESWT. This article summarizes the latest progress and potential mechanism of ESWT in the treatment of CP/CPPS in order to provide new insights for the standardized application of ESWT.

4.
International Eye Science ; (12): 1097-1102, 2022.
Article in Chinese | WPRIM | ID: wpr-929486

ABSTRACT

AIM: To evaluate the visual quality of patients after modified design aspheric balance curve(ABC)with intraocular lens(IOL)implantation, and to analyze the influencing factors of clinical IOL selection and guide the patient's IOL selection plan. METHODS: A prospective case-control study was conducted in 67 patients(74 eyes)with simple cataract underwent phacoemulsification and foldable aspheric IOL implantation, and 23 eyes in the observation group were implanted with modified design IOL(HOYA Vivinex XY1 group), the control group was implanted with 51 eyes of traditional design IOL(Tecnis ZCB00 group with 27 eyes, IQ SN60WF group with 24 eyes). The uncorrected visual acuity, the best corrected visual acuity, total ocular spherical aberration(SA)and coma under different pupil diameters(3, 4, 5, 6mm), and different pupil diameters(3, 4, 5mm)were measured 1wk and 1mo after operation, the modulation transfer function(MTF)curve, objective scattering index(OSI), intraocular scattered light value Log(s)and contrast sensitivity were obtained. Statistical analysis was performed on the obtained data.RESULTS: The uncorrected visual acuity and best corrected visual acuity at 1wk and 1mo after operation in the three groups were significantly improved compared with those before operation, there was no significant difference among groups(P>0.05). The difference of total ocular spherical aberration was statistically significant among the three groups with 5 and 6mm pupil diameter 1wk after operation(P=0.045, 0.037)and there were differences among three groups in pupil diameter of 6mm at 1mo after operation(P=0.042). Comparing the total ocular coma aberration, there were differences among the three groups at 1wk and 1mo after the operation at the pupil diameter of 5 and 6 mm(P<0.05). With the increase of pupil diameter at 1wk and 1mo after operation, the total ocular spherical aberration in the HOYA Vivinex XY1 group was lower than that in the other two groups. The MTF values of the Vivinex XY1 group were higher than those that of the control group at each spatial frequency, there was no significant difference among groups(P>0.05), and there were no statistical differences in objective scattering index, intraocular scattered light value Log(s)and contrast sensitivity among the three groups(P>0.05).CONCLUSION:The improved design of the modified Vivinex IOL can reduce the total ocular spherical aberration and coma, improve the visual quality, and provide a new method for the selection of aspheric IOL.

5.
Chinese Medical Journal ; (24): 658-664, 2022.
Article in English | WPRIM | ID: wpr-927538

ABSTRACT

BACKGROUND@#Antiphospholipid syndrome (APS) is an autoimmune prothrombotic condition with significant morbidity. The objective of this study was to identify additional clinical and epidemiological risks of arterial thrombosis, venous thrombosis, and pregnancy morbidities in a large cohort of persistent antiphospholipid antibodies (aPLs)-positive carriers.@*METHODS@#This was a cross-sectional cohort study of 453 consecutive patients with a documented positive aPL who attended Peking University People's Hospital. Among 453 patients screened, 297 patients had persistent positive aPL. We compared asymptomatic aPL carriers with thrombotic and obstetric APS patients. And the univariate analysis and multivariable logistic regression were used to evaluate the association between different risk factors and APS clinical manifestations. The levels of circulating markers of neutrophil extracellular traps (NETs) (cell-free DNA and citrullinated histone H3 [Cit-H3]) were assessed and compared among aPL-positive carriers with or without autoimmune disease and APS patients.@*RESULTS@#Additional risk factors associated with arterial thrombosis among aPL-positive carriers included: smoking (odds ratio [OR] = 6.137, 95% confidence interval [CI] = 2.408-15.637, P  = 0.0001), hypertension (OR = 2.368, 95% CI = 1.249-4.491, P  = 0.008), and the presence of underlying autoimmune disease (OR = 4.401, 95% CI = 2.387-8.113, P < 0.001). Additional risks associated with venous thrombosis among aPL carriers included: smoking (OR = 4.594, 95% CI = 1.681-12.553, P  = 0.029) and the presence of underlying autoimmune disease (OR = 6.330, 95% CI = 3.355-11.940, P < 0.001). The presence of underlying autoimmune disease (OR = 3.301, 95% CI = 1.407-7.744, P  = 0.006) is the additional risk, which demonstrated a significant association with APS pregnancy morbidity. Higher circulating levels of cell-free DNA and Cit-H3 were observed among APS patients and aPL patients with autoimmune diseases compared with those aPL carriers without underlying autoimmune diseases. Furthermore, control neutrophils that are conditioned with APS patients'sera have more pronounced NET release compared with those treated with aPL carriers'sera without underlying autoimmune diseases.@*CONCLUSIONS@#We identified several potential additional risk factors for APS clinical manifestations among a large cohort of Chinese aPL carriers. Our data may help physicians to risk stratify aPL-positive Asian patients.


Subject(s)
Antibodies, Antiphospholipid , Antiphospholipid Syndrome/complications , Autoimmune Diseases , Cell-Free Nucleic Acids , Cohort Studies , Cross-Sectional Studies , Female , Humans , Morbidity , Pregnancy , Risk Factors , Thrombosis/etiology
6.
Article in Chinese | WPRIM | ID: wpr-940659

ABSTRACT

ObjectiveTo observe the effect of ginsenoside Rg1 (G-Rg1) on the biological activity of cryopreserved Schwann cells (SCs) of the rat sciatic nerve and explore the feasibility of G-Rg1 in reducing the cryopreservation-induced injury in SCs. MethodBilateral sciatic nerves of SD rats were randomly divided into a fresh group, a blank group, and five G-Rg1 groups of different doses (1×10-7, 1×10-6, 1×10-5, 1×10-4, and 1×10-3 mol·L-1). The nerves in the blank group and the G-Rg1 groups were preserved in liquid nitrogen solutions containing 0, 1×10-7, 1×10-6, 1×10-5, 1×10-4, and 1×10-3 mol·L-1 G-Rg1 for four weeks. The apoptosis of SCs was detected by TdT-mediated dUTP-biotin nick end labeling (TUNEL)/S100 immunofluorescence staining. The expression of cysteinyl aspartate-specific protease (Caspase)-9, Caspase-3, major histocompatibility complex (MHC)-Ⅰ, and MHC-Ⅱ was detected by Western blot. Subsequently, all nerves were cultured in the incubator at 37 ℃ with 5% CO2 for 7 days. The expression of glial cell line-derived neurotrophic factor (GDNF) and nerve growth factor (NGF) was detected by Western blot. In addition, the above cryopreserved nerves in the blank group and the 1×10-6, 1×10-5, and 1×10-4 mol·L-1 G-Rg1 groups were transplanted to the Wistar rats by allografting (blank transplantation group and the 1×10-6, 1×10-5, and 1×10-4 mol·L-1 G-Rg1 transplantation groups), and fresh sciatic nerve allograft and isograft control group were set up. Sixteen weeks after transplantation, compound muscle action potential (CMAP) and nerve conduction velocity (NCV) were measured by electrophysiology. Nerve filament (NF)200 immunofluorescence staining, transmission electron microscopy, and toluidine blue staining were used to analyze the histology of the regenerated nerves. ResultCompared with the fresh group, the blank group and the G-Rg1 groups showed increased expression of Caspase-9, Caspase-3, and the apoptosis of SCs (P<0.05,P<0.01) and decreased expression of GDNF, NGF, MHC-Ⅰ, and MHC-Ⅱ (P<0.01). Compared with the results in the blank group, the expression of Caspase-9 and Caspase-3 decreased in the 1×10-7, 1×10-6, 1×10-5,1×10-4 mol·L-1 G-Rg1 groups (P<0.01), and the apoptosis of SCs was reduced in the 1×10-7-1×10-4 mol·L-1 G-Rg1 groups(P<0.05,P<0.01) and increased in the 1×10-3 mol·L-1 group (P<0.05), while the expression of GDNF and NGF increased in the 1×10-7, 1×10-6, 1×10-5,1×10-4 mol·L-1 G-Rg1 groups and decreased in the 1×10-3 mol·L-1 group (P<0.05). There was no statistical significance in the expression of MHC-Ⅰ and MHC-Ⅱ between the blank group and the G-Rg1 groups. Compared with the 1×10-7 mol·L-1 and 1×10-3 mol·L-1 G-Rg1 groups, the 1×10-6 1×10-5, 1×10-4 mol·L-1 G-Rg1 groups showed decreased expression of Caspase-3 and the apoptosis of SCs (P<0.05,P<0.01) and increased expression of GDNF and NGF (P<0.05,P<0.01). There was no statistical significance in MHC-Ⅰ and MHC-Ⅱ expression among G-Rg1 groups. Sixteen weeks after transplantation, compared with the isograft group, the blank transplantation group and the G-Rg1 transplantation groups showed decreased CMAP, NCV, myelin sheath thickness, and number of myelinated nerve fibers (P<0.01), and the 1×10-6 and 1×10-4 mol·L-1 G-Rg1 transplantation groups showed decreased NF200 (P<0.01). Compared with the allograft group, the blank transplantation group and the G-Rg1 transplantation groups showed increased CMAP, NCV, NF200, myelin sheath thickness, and number of myelinated nerve fibers (P<0.05,P<0.01). Compared with the blank transplantation group, the G-Rg1 transplantation groups showed increased CMAP, NCV, NF200, myelin sheath thickness, and number of myelinated nerve fibers (P<0.05,P<0.01). Among all groups of G-Rg1 transplantation, each index of the 1×10-5 mol·L-1 G-Rg1 transplantation group was superior to that of the 1×10-4 and 1×10-6 mol·L-1 G-Rg1 transplantation group (P<0.05). ConclusionG-Rg1 at a certain centration can maintain the biological activity of cryopreserved SCs of rat sciatic nerve, alleviate the cryopreservation-induced injury of rat sciatic nerve, and promote nerve regeneration after allograft.

7.
Article in Chinese | WPRIM | ID: wpr-910073

ABSTRACT

Objective:To investigate the clinical efficacy of robotic navigation and percutaneous internal fixation in the treatment of fresh undisplaced scaphoid lumbar fractures.Methods:From November 2019 to October 2020, 8 patients were treated at Department of Hand Surgery, Xuzhou Renci Hospital for fresh undisplaced scaphoid lumbar fractures. There were 7 males and one female with an average age of 27.5 years (from 18 to 42 years), and 5 left and 3 right cases. Navigation by a Tianji orthopedic robot was conducted to decide the positions for implantation of percutaneous Herbert screws to fixate the fractures. The bone healing was followed up by regular X-ray and CT examinations. The functional recovery was evaluated by Mayo wrist score, grip strength, pinch strength and wrist range of motion, and the wrist pain was evaluated by visual analogue scale (VAS).Results:All the 8 patients were followed up for a mean time of 12.8 months (from 6 to 19 months). All the wounds healed by the first intention without any inflammation or infection. CT examination at 3 months postoperation found that all the fracture ends got united. At the final follow-up, the average active motions of the injured wrist were: 67.9° in flexion, 64.1° in extension, 21.2° in radial deviation and 52.2° in unlar deviation, respectively. The average grip strength was recovered to 31.3 kg, reaching up to 85.2% (from 66.7% to 100.0%) of the contralateral wrist; the average pinch force was recovered to 19.5 kg, reaching up to 89.3% (from 77.8% to 100.0%) of the contralateral wrist. At the last follow-up, the Mayo wrist function scores averaged 97.5 (from 95 to 100) and all the 8 cases were excellent. The VAS pain score of the wrist averaged 0.88 (from 0 to 2).Conclusion:In the treatment of fresh undisplaced scaphoid lumbar fractures, navigation with a Tianji orthopedic robot can be used to visualize percutaneous minimally invasive screw fixation so that accurate positioning and precise screw placement are ensured, leading to rapid rehabilitation.

8.
Article in Chinese | WPRIM | ID: wpr-905085

ABSTRACT

Mineral medicine is an indispensable part of traditional Chinese medicine and has a long history of application. Among them, mineral-based hemostatics have been widely applied for the treatment of various hemorrhagic diseases with extensive clinical experience and established efficacy. Gypsum Fibrosum (GF), a commonly used mineral medicine in clinical, can clear away heat, and relieve anxiety and thirst. Gypsum Ustum (GU) is the processed product of GF after calcining at high temperature. It is mainly composed of anhydrous calcium sulfate (CaSO4) with the functions of moisturizing, promoting muscle growth, astringent sores and hemostasis. GU is often used externally to treat ulcer, itching, eczema, water and fire scalds, trauma bleeding, etc. Studies on the mechanism of hemostasis have shown that Ca2+ (coagulation factor Ⅳ) is involved in many key processes of the internal and external coagulation cascades and can prevent bleeding by regulating platelet activation and aggregation, and promoting the production of insoluble fibrin and the ultimate formation of a blood clot. GF and GU both contain Ca2+ which provide an important material basis of hemostatic effect for both compounds, but GU has a significant hemostatic effect, while GF has no hemostatic effect. After processing, the taste and efficacy of the GF have been obviously changed which reflects the characteristics of processing, but the processing mechanism of GU has not been fully clarified. Therefore, based on studies of GF before and after calcining, this paper focused on these aspects including calcining process, crystal form comparison, element content, efficacy comparison, and summarized various aspects of Ca2+ involved in hemostasis. In addition, the hemostatic properties of other calcium-containing mineral medicines and new calcium-containing hemostatic materials such as calcium alginate, mesoporous calcium silicate and nanogel hemostatic materials were also discussed. The paper aimed to provide a reference for elucidating processing mechanism and clinical dialectical use of GU, also to promote development of new calcium-containing hemostatic materials.

9.
Cancer Research and Clinic ; (6): 229-232, 2021.
Article in Chinese | WPRIM | ID: wpr-886039

ABSTRACT

Apocrine carcinoma of the breast is a special subtype of breast cancer. The accurate diagnosis of apocrine carcinoma of the breast is still controversial due to the subjectivity of histopathological criteria and the lack of sensitive and specific biomarkers for reliable classification of this subtype of breast cancer. This article reviews the research progress of apocrine carcinoma of the breast.

10.
Article in Chinese | WPRIM | ID: wpr-885603

ABSTRACT

Objective:To compare the effects of repetitive transcranial magnetic stimulation (TMS) at three different relatively high frequencies on neuropathic pain so as to find the best frequency.Methods:One hundred Sprague-Dawley rats were randomly divided into a sham operation group, a model group, a TMS group and a control stimulation group. The TMS group was further divided into a 5Hz group, a 10Hz group, and a 20Hz group. The rats in the model, control stimulation and TMS groups received constriction injury of the sciatic nerve, while the rats in the sham group were given a sham version of the operation. On the third day after the operation the rats in the TMS group and the control stimulation group began to receive TMS treatment. Neuropatic pain was evaluated on the day before the operation, and on the 3rd, 5th, 7th, 10th and 12th days after the operation. The evaluations included the paw withdrawal thermal latency (PWTL) and the paw withdrawal mechanical threshold (PWMT).Results:The average PWTLs and PWMTs in all of the TMS groups increased with the TMS treatment. Those of the 10Hz and 20Hz groups were significantly higher than the 5Hz group′s average, while there were no significant differences between the 10Hz group and 20Hz group.Conclusions:High-frequency TMS at different frequencies has different effects on neuropathic pain, at least in rats. The treatment efficacy at 10 and 20Hz is superior to that at 5Hz.

11.
Acta Pharmaceutica Sinica ; (12): 1571-1579, 2021.
Article in Chinese | WPRIM | ID: wpr-881553

ABSTRACT

Local focal adhesion kinase (FAK) is a non-receptor intracellular tyrosine kinase that plays an important role in tumor initiation, development, metastasis and invasion, and is considered to be an important target for the development of antineoplastic drugs. It has both kinase-dependent and non-kinase-dependent scaffolding functions. However, traditional small molecular inhibitors can only inhibit its kinase-dependent activity, so it is difficult to target the kinase-independent scaffolding function. Therefore, there is an urgent need for novel strategies to enhance FAK targeting to lay the foundation for determining the druggability and discovery of FAK inhibitors. Proteolysis targeting chimera (PROTAC) is a new drug development strategy that can recruit E3 ligase to specifically ubiquitinylate target proteins for degradation through the proteasome system. The unique mechanism of action of the PROTAC system could be used to target and degrade the FAK protein, thus eliminating the scaffolding function of FAK. In this review, FAK protein, the signaling pathway, and small molecule inhibitors are briefly described, and the latest research progress in targeting the degradation of FAK using PROTAC technology is summarized.

12.
Article in Chinese | WPRIM | ID: wpr-878963

ABSTRACT

This study aims to establish a method for the determination of the concentration of five main components of phthalide target areas of Chaxiong(CPTA) and its inclusion of β-CD in the plasma of rats, and determine the pharmacokinetic parameters, absolute bioavailability and relative bioavailability of CPTA/β-CD inclusion compound in vivo. The plasma concentrations of senkyunolide A, N-butylphthalide, new osthol lactone, Z-ligustilide and butenyl phthalide were determined with UPLC-MS/MS. The content determination was conducted at the chromatographic conditions as follows: Shim-pack GIST C_(18)-AQ HP column(2.1 mm×100 mm, 3 μm), mobile phase of 0.1% formic acid solution(A)-acetonitrile(B), gradient elution, flow rate of 0.3 mL·min~(-1), column temperature of 35 ℃ and injection volume of 2 μL. The mass spectra were obtained with electrospray ion source(ESI), positive ion mode and multi reaction monitoring. CPTA/β-CD inclusion compound was prepared by grinding method, DAS 2.0 software was used to model the data, and the absolute bioavailability of CPTA and relative bioavailability of inclusion compound were calculated. Finally, the methods for the determination of five components of senkyunolide A, N-butylphthalide, new osthol lactone, Z-ligustilide and butenyl phthalide in CPTA, were successfully established. The linear relationship among the five components was good within their respective ranges, r>0.99. The absolute bioavailability of the five components in rats was 22.30%, 16.32%, 21.90%, 10.16% and 12.43%, respectively. After CPTA/β-CD inclusion was prepared, the relative bioavailability of the five components was 138.69%, 198.39%, 218.01%, 224.54% and 363.55%, respectively, significantly improved. This method is rapid, accurate and sensitive, so it is suitable for the pharmacokinetic study of extracts in traditional Chinese medicine and their preparations.


Subject(s)
Animals , Benzofurans , Chromatography, High Pressure Liquid , Chromatography, Liquid , Rats , Rats, Sprague-Dawley , Reproducibility of Results , Tandem Mass Spectrometry
13.
Journal of Stroke ; : 1-11, 2021.
Article in English | WPRIM | ID: wpr-874960

ABSTRACT

Background@#and Purpose The present study aimed to compare the efficacy and tolerability of different blood pressure (BP)-lowering strategies. @*Methods@#Randomized controlled trials that compared various antihypertensive treatments and stroke outcomes were included. Eligible trials were categorized into three scenarios: single or combination antihypertensive agents against placebos; single or combination agents against other agents; and different BP-lowering targets. The primary efficacy outcome was the risk reduction pertaining to strokes. The tolerability outcome was the withdrawal of drugs, owing to drug-related side effects (PROSPERO registration number CRD42018118454 [20/12/2018]). @*Results@#The present study included 93 trials (average follow-up duration, 3.3 years). In the pairwise analysis, angiotensin-converting enzyme inhibitors (ACEis) and beta-blockers (BBs) were inferior to calcium channel blockers (CCBs) (odds ratio [OR], 1.123; 95% confidence interval [CI], 1.008 to 1.252) (OR, 1.261; 95% CI, 1.116 to 1.425) for stroke prevention, BB was inferior to angiotensin II receptor blockers (ARB) (OR, 1.361; 95% CI, 1.142 to 1.622), and diuretics were superior to ACEi (OR, 0.871; 95% CI, 0.771 to 0.984). The combination of ACEi+CCB was superior to ACEi+diuretic (OR, 0.892; 95% CI, 0.823 to 0.966). The network meta-analysis confirmed that diuretics were superior to BB (OR, 1.34; 95% CI, 1.11 to 1.58), ACEi+diuretic (OR, 1.47; 95% CI, 1.02 to 2.08), BB+CCB (OR, 2.05; 95% CI, 1.05 to 3.79), and renin inhibitors (OR, 1.87; 95% CI, 1.25 to 2.75) for stroke prevention. Regarding the tolerability profile, the pairwise analysis revealed that ACEi was inferior to CCB and less tolerable, compared to the other treatments. @*Conclusions@#Monotherapy using diuretics, CCB, or ARB, and their combinations could be employed as first-line treatments for stroke prevention in terms of efficacy and tolerability.

14.
Article in Chinese | WPRIM | ID: wpr-942557

ABSTRACT

Objective: To analyze the clinical manifestations of a patient with branchiootic syndrome(BOS) and her families and to carry out genetic testing in order to specify the biological pathogenesis. Methods: Clinical data of the patient and her families were collected. Genomic DNA in the peripheral blood of the proband and her family members was extracted. All exons of 406 deafness-related susceptible genes as well as their flanking regions were sequenced by high-throughput sequencing, and the mutation sites of the proband and her parents were validated by Sanger sequencing. Results: There were nine members in three generations, of whom four presented with hearing loss, preauricular fistula and branchial fistula which met the diagnostic criteria of BOS. Proband and her mother presented with auricle malformation and inner ear malformation. And no one had abnormalities in the kidneys of all the patients. Pedigree analysis revealed that the mode of inheritance in the family was consistent with the autosomal dominant pattern. Mutational analysis showed that all the affected patients detected a heterozygous frameshift variation c.1255delT in the EYA1 gene, which had not been reported. Genotype and phenotype were co-isolated in this family. Such a frameshift variation produced a premature termination codon, thereby causing premature termination of translation (p.C419VFS*12). ACMG identified that the mutation was pathogenic. This mutation was novel and not detected in controls. A heterozygous missense variation mutation c.403G>A(p.G135S) in EYA1 gene was also detected in three members of this family. ACMG identified that the mutation clinical significance was uncertain. However, two of whom were normal, which seemed the disease was not caused by this mutation in this family. Conclusions: A novel frameshift mutation in EYA1(c.1255delT) is the main molecular etiology of BOS in the Chinese family. This study expands the mutational spectrum of EYA1 gene. The clinical manifestations are heterogeneous among patients in this family. The diagnosis of BOS should combine gene tests with clinical phenotypes analysis.


Subject(s)
Branchio-Oto-Renal Syndrome/genetics , DNA Mutational Analysis , Female , Genetic Testing , Humans , Intracellular Signaling Peptides and Proteins/genetics , Mutation , Nuclear Proteins , Pedigree , Protein Tyrosine Phosphatases/genetics
15.
Article in Chinese | WPRIM | ID: wpr-942385

ABSTRACT

Objective: To screen and analyze the mutations of MITF gene in two children of type Ⅱ Waardenburg syndrome (WS2) from different families in Yunnan,China,and to explore the possible molecular pathogenesis. Methods: With informed consent, medical history collection, physical examinations, audiological evaluation, and high resolution computer tomography (HRCT) scan of temporal bone were performed on the two WS2 probands and their family members. Genomic DNA was extracted from peripheral blood of all individuals. The coding regions including all exons, part of introns and promoters of MITF, PAX3, SOX10, SNAI2, END3, ENDRB, and KITLG genes were sequenced by high-throughput sequencing. According to the results of high-throughput sequencing, pathogenic mutations detected in the probands and their parents were verified by Sanger sequencing. Results: The proband 1 carried c.641_643delGAA mutation in the 7th exon of MITF gene, which was a frame-shift mutation resulting in an amino acid change of p.214delR. It was a de novo mutation as the parents of proband 1 showed no variation on this site. The proband 2 carried heterozygous loss of the large fragment ranging from exon 1 to exon 9 of MITF gene, which defected the function of MITF protein. Conclusion: Genetic examinations provide important evidence for diagnosis of Waardenburg syndrome. Heterozygous mutation c.641_643delGAA and heterozygous loss of the large fragment ranging from exon 1 to exon 9 of MITF gene might be the molecular pathogenesis of the two WS2 probands in this study.


Subject(s)
Asians/genetics , Child , China , Humans , Mutation , Pedigree , SOXE Transcription Factors/genetics , Waardenburg Syndrome/genetics
16.
Chinese Journal of Pathology ; (12): 116-121, 2020.
Article in Chinese | WPRIM | ID: wpr-787659

ABSTRACT

To investigate the expression of H3.3 G34W mutant-specific antibody in giant cell tumors of bone (GCTB), and its value in the diagnosis of GCTB. Immunohistochemical (IHC) EnVision method was used to detect the expression of H3.3 G34W mutant-specific antibody and p63 in 83 GCTBs, 18 aneurysmal bone cysts, 23 chondroblastomas and 28 osteosarcomas diagnosed at Nanjing Jinling Hospital from June 2001 to April 2019. Among the 83 cases of GCTB, 69 cases (69/83, 83.1%) expressed H3.3 G34W. H3.3 G34W expression was found exclusively in the mononuclear cell population with strong and diffuse nuclear staining. H3.3 G34W was expressed in 55 of 57 (96.5%) cases of GCTB in long bones, but only 14 of 26 (53.8%) cases of non-long bone GCTB. All recurrent (9/9)/metastatic GCTB (2/2), post-denosumab GCTB (3/3), primary malignant GCTB (3/3) and secondary malignant GCTB (5/5) also expressed H3.3 G34W. H3.3 G34W was negative in all aneurysmal bone cysts and chondroblastomas. H3.3 G34W was positive in 3 of 28(10.7%) cases of osteosarcomas, and giant cell-rich osteosarcoma(GCRO) was the only histological subtype of osteosarcoma that expressed H3.3 G34W. p63 was expressed in 71.1%(59/83) of GCTB, while the positive rates of p63 in aneurysmal bone cysts,chondroblastomas and osteosarcomas were 3/18, 43.5% (10/23) and 21.4% (6/28) respectively. The sensitivity and specificity of H3.3 G34W mutant-specific antibody in the diagnosis of GCTB were 83.1% and 95.7%. H3.3 G34W mutant-specific antibody is a highly sensitive and specific marker for GCTB and helpful for the diagnosis of GCTB and its variants. The limitation of this antibody is that as a mall number of GCTB harbor G34 mutation other than G34W, and thus that cannot be detected. The incidental expression of H3.3 G34W mutant protein in osteosarcoma could be a potential diagnostic dilemma, and the results of H3.3 G34W IHC staining needs careful interpretation.

17.
Article in Chinese | WPRIM | ID: wpr-871152

ABSTRACT

Objective:To investigate the effect of paired associative stimulation (PAS) on the recovery of neurological function after cerebral infarction, and to explore whether any such effect is associated with autophagy in the ischemic penumbra.Methods:Sixty adult male Sprague-Dawley rats were randomly divided into a sham operation group ( n=20) and an experimental group ( n=40). The rats of the experimental group underwent 90 minutes of right middle cerebral artery occlusion (MCAO), while the sham group received a sham operation. The experimental group was subsequently divided into a model group ( n=20) and a PAS group ( n=20). The PAS group received 14 days of paired associative stimulation (PAS) beginning 24 hours after the operation. Neurological dysfunction was evaluated with a modified neurological severity scale (mNSS) and the elevated body swing test (EBST) on the 1st, 7th and 14th day after the MCAO. The rats were then euthanized and the expression of LC3Ⅰ, LC3Ⅱ, Beclin1, and Cathepsin B in the ischemic penumbra were detected using Western blotting, while the distribution of LC3 in neurons was detected using double immunofluorescent staining. Results:Compared with the sham group, the average mNSS scores and EBST values of the model and PAS groups were both higher on the 7th and 14th day after the MCAO, with those of the PAS group significantly lower than those of the model group on those days. The average mNSS score on the 14th day was significantly lower than on the 7th day. Compared with the sham group, the average LC3Ⅱ/Ⅰ values, Beclin 1 and Cathepsin B levels of both the model group and the PAS group were significantly higher on the 7th and 14th day after the MCAO, with the LC3Ⅱ/Ⅰ values of the PAS group significantly lower than those of the model group at both time points. The PAS group also had significantly lower Beclin1 and Cathepsin B levels on day 14. On the 7th and 14th days after the MCAO, the average number of LC3-positive cells and the ratio of LC3-positive neurons to total neurons in the model and PAS groups were significantly greater than the those of sham group, with the PAS group′s values significantly lower than those of the model group at each time point.Conclusion:PAS can significantly promote neurological recovery after stroke. The beneficial effects may involve inhibition of neuronal autophagy in the ischemic penumbra.

18.
Article in Chinese | WPRIM | ID: wpr-870412

ABSTRACT

Objective To compare the effect and safety of stenting versus directional atherectomy (DA) in the treatment of TASCⅡ A and B superficial femoral artery lesions.Methods 100 patients with TASC Ⅱ A and B lesions were divided into percutaneous transluminal stenting(PTS) group (n =50) and DA group (n =50).Patients were compared in terms of technical success rate,treatment success rate,first operation cost,postoperative ankle brachial index (ABI),limb salvage rate,survival,and patency.Results The technical success rate in both PTS and DA group was 100%.The treatment success rate was 98% vs.86%,P>0.05.Postoperative ABI:0.82 ±0.19 vs.0.80 ±0.27,P>0.05.First operation cost:(34 820 ± 1 051) yuan vs.(45 635 ± 1 358) yuan,P <0.001;All patients were followed-up for up to 2-year,the cumulative patency rate was 81.6% vs.72.9% (P>0.05).Limb salvage rate was 97.9% vs.93.8 %,P > 0.05.Conclusion There were no significant differences in the effect and safety of PTS versus DA in the treatment of TASCⅡ A and B superficial femoral artery lesions.

19.
Article in Chinese | WPRIM | ID: wpr-869994

ABSTRACT

Objective:To improve the understanding of thyrotropin-secreting adenoma in multiple endocrine neoplasia type 1(MEN1) through analyzing the clinical diagnosis and treatment process, as well as outcomes in one case of this disorder.Methods:The clinical manifestations, biochemical and hormone levels, imaging presentations, medical and surgical treatments, and post-operational pathologic findings in the process of diagnosis and treatment of a patient with thyrotropin-secreting adenoma in MEN1 were analyzed. The next generation sequencing followed by Sanger method was used for analyzing MEN1 and related genes. The results were evaluated with online PolyPhen2 and PROVEAN for variation hazard.Results:One 19-year old male patient was diagnosed with hyperthyroidism due to thyrotoxicosis and high level of thyroid hormones(THs) with measurable TSH(2.78 mIU/L) and negative thyrotropin receptor antibody(TRAb). Meanwhile, primary hyperparathyroidism was suggested by hypercalcemia, hypophosphatemia, and elevated intact parathyroid hormone(PTH) level, all the parameters were returned to normal after surgical resection of the mass which was below the left thyroid lobe indicated by ultrasound and 99mTc scan. Thyrotoxicosis remained in spite of one year treatment with antithyroid drug, thyrotropinoma was then suspected, and subsequent MRI scan found a macroadenoma at right pituitary. TSH and THs returned to normal 1 month after transsphenoidal removal of the adenoma. As expected, immunohistochemical staining revealed TSH positive. In addition, a pancreatic mass was found by both CT and MRI scan, which was considered as a silent neuroendocrine tumor. Gene analysis revealed a missense mutation of MEN1 as c. 415C>T and p. His139Tyr(H139Y), which was predicted highly hazard. Only five cases of thyrotropinoma in MEN1 were previously reported. Conclusion:Thyrotropinoma should be cautiously identified from hyperthyroidism to avoid misdiagnosis and mistreatment, and it should keep in mind that thyrotropinoma may be associated with MEN1 though it would be very rare.

20.
Article in Chinese | WPRIM | ID: wpr-905453

ABSTRACT

Objective:To investigate the effect of endogenous neurotrophic factor (ENTFs) on nerve regeneration after cryopreserved sciatic nerve allograft in rats. Methods:The 15-mm sciatic nerves from female Sprague-Dawley rats were placed in DMEM solution and pretreated in vitro for 1 day, 3 days, 7 days, 14 days, and 21 days at 37 ℃ with 5% CO2 (groups A, B, C, D and E) respectively. Fresh nerve group (group F) was set up. The protein expression of glial cell line-derived neurotrophic factor (GDNF), nerve growth factor (NGF), Bcl-2, Bax, Caspase-3, major histocompatibility complex (MHC)-I and MHC-II was detected by Western blotting. The above six groups were cryopreserved in liquid nitrogen for four weeks. The living cells and dead cells of the nerves after cryopreservation were observed by Calcein-AM/propidium iodide staining. In addition, the above six cryopreserved groups and another fresh nerve group (group G) were transplanted to the Wistar rats by allografting (groups A', B', C', D', E', F' and G'). Isograft group (group H') was set up. One week after transplantation, the expression of CD8+ T cells and macrophages of the graft were observed by immunofluorescence staining, and the plasma levels of interleukin (IL)-2, interferon (IFN)-γ, and tumor necrosis factor (TNF)-α were detected by ELISA. Twenty weeks after transplantation, the compound muscle action potential (CMAP) and nerve conduction velocity (NCV) were examined by electrophysiology. The wet weight ratio of gastrocnemius muscle was calculated by the operational side compared with the contralateral side. The expression of neurofilament protein (NF) 200 of the transplanted nerves was observed by immunofluorescence staining. The number of myelinated nerve fibers was analyzed by toluidine blue staining. The thickness of myelinated was analyzed by electron microscopy. Results:Compared with group F, the protein expression of GDNF and NGF increased in groups C, D and E (P < 0.05); the protein expression of Bcl-2 reduced and the protein expression of Bax and Caspase-3 increased in groups B, C, D, and E (P < 0.05); the protein expression of MHC-I and MHC-II decreased in all the pretreated groups (P < 0.05). Four weeks after cryopreservation, compared with groups F and G, the number of living cells decreased in groups C, D and E. One week after transplantation, compared with groups F' and G', the expression of CD8+ T cells and macrophages decreased, and the plasma concentration of IL-2 and TNF-α decreased in groups C', D' and E' (P<0.05). Twenty weeks after transplantation, CMAP, NCV, the wet weight ratio of gastrocnemius muscle, the number of axon and thickness of myelin sheath were better in groups C', D' and E' than in groups F' and G' (P<0.05), as well as the expression of NF200. Conclusion:ENTFs can be induced by pretreating the sciatic nerve in vitro. Cryopreserved sciatic nerve with high expression of ENTFs could promote nerve regeneration and functional recovery after allograft.

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