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1.
Sci Rep ; 13(1): 17303, 2023 10 12.
Artigo em Inglês | MEDLINE | ID: mdl-37828079

RESUMO

Renal vein thrombosis (RVT) is a rare vascular complication that occurs after renal transplantation and usually results in irreversible kidney damage and graft loss. We report the case of a patient who underwent right iliac fossa allogeneic kidney transplantation and developed RVT combined with ipsilateral thrombosis from the popliteal to the femoral veins, with extension to the common iliac veins, 4 months after transplantation. Under unfractionated heparin anticoagulation, an Aegisy (Life Tech Scientific Co., Ltd., Shenzhen, China) vena cava filter was placed to prevent pulmonary embolism. Percutaneous mechanical thrombectomy combined with balloon angioplasty was performed to aspirate the thrombus and successfully dilate the narrow venous lumen. The patient's renal function was restored postoperatively. Ultrasonography showed the allograft and ipsilateral lower extremity deep veins to be fluent and patent. To conclude, in patients with RVT after renal transplantation, percutaneous mechanical thrombectomy in conjunction with balloon angioplasty can be performed with desirable outcomes and no severe adverse effects. This method reduces the risk of bleeding from exposure to systemic intravenous thrombolysis and avoids surgery-associated trauma.


Assuntos
Angioplastia com Balão , Trombose , Trombose Venosa , Humanos , Heparina/uso terapêutico , Veias Renais , Terapia Trombolítica/efeitos adversos , Trombose Venosa/etiologia , Trombose Venosa/terapia , Trombectomia/métodos , Angioplastia com Balão/efeitos adversos , Trombose/etiologia , Veia Femoral , Resultado do Tratamento
2.
J Med Genet ; 60(12): 1210-1214, 2023 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-37468236

RESUMO

To date, over 200 families with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and over 600 families with Birt-Hogg-Dubé (BHD) syndrome have been reported, with low incidence. Here, we describe a patient with suspected rare HLRCC complicated by BHD syndrome. The proband (II1) had characteristic cutaneous leiomyoma-like protrusions on the neck and back, a left renal mass and multiple right renal, liver and bilateral lung cysts. Three family members (I1, II2, II3) had a history of renal cancer and several of the aforementioned clinical features. Two family members (II1, II3) diagnosed with fumarate hydratase (FH)-deficient papillary RCC via pathological biopsy carried two heterozygous variants: FH (NM_000143.3) missense mutation c.1189G>A (p.Gly397Arg) and FLCN (NM_144997.5) frameshift mutation c.1579_1580insA (p.Arg527Glnfs*75). No family member carrying a single variant had renal tumours. In HEK293T cells transfected with mutant vectors, mRNA and protein expression after FLCN p.Arg527Glnfs*75 and FH p.Gly397Arg mutations were significantly lower than those in wild-type (WT) cells. Cell immunofluorescence showed altered protein localisation and reduced protein expression after FLCN p.Arg527Glnfs*75 mutation. The FH WT was uniformly distributed in the cytoplasm, whereas FH protein expression was reduced after the p.Gly397Arg mutation and scattered sporadically with altered cell localisation. Patients with two variants may have a significantly increased penetrance of RCC.


Assuntos
Síndrome de Birt-Hogg-Dubé , Carcinoma de Células Renais , Neoplasias Renais , Leiomiomatose , Humanos , Síndrome de Birt-Hogg-Dubé/complicações , Síndrome de Birt-Hogg-Dubé/genética , Carcinoma de Células Renais/complicações , Carcinoma de Células Renais/genética , Células HEK293 , Neoplasias Renais/complicações , Neoplasias Renais/genética , Leiomiomatose/complicações , Leiomiomatose/genética , Fenótipo
3.
Am J Transl Res ; 14(9): 5982-6010, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36247256

RESUMO

OBJECTIVE: We conducted an in-depth study of the immune system and ferroptosis to identify prognostic biomarkers and therapeutic targets for renal clear cell carcinoma. METHODS: Immune ferroptosis-related differentially expressed genes (IFR-DEGs) were selected from The Cancer Genome Atlas (TCGA). A lasso-Cox risk scoring model was established; its prognostic value was determined using prognostic analysis and single multivariate Cox analysis. Model genes were subjected to subcellular fluorescence localization, mRNA and protein expression analyses, and single-cell RNA sequencing localization analysis. Risk score was analyzed using the immune score, immune infiltrating cell correlation, immune checkpoint, TIDE, and drug sensitivity. RESULTS: A total of 103 IFR-DEGs were identified; a risk model comprising ACADSB, CHAC1, LURAP1L, and PLA2G6 was established. The survival curve, single multivariate Cox regression, and receiver operating characteristic (ROC) curve analysis showed that the model had good predictive ability (p < 0.05). It was also validated using the validation set and total cohort. Subcellular fluorescence localization revealed that ACADSB, CHAC1, and PLA2G6 were distributed in the cytoplasm and LURAP1L in the nucleus. The mRNA and protein expression trends were consistent. Single-cell RNA sequencing mapping revealed that ACADSB was enriched in distal tubule cell clusters. In the Kidney renal clear cell carcinoma (KIRC) mutation correlation analysis, 1.56% of the patients were found to have genetic alterations; The Spearman correlation analysis of model gene mutations showed that ACADSB was positively correlated with LURAP1L, which may have a synergistic effect; it was negatively correlated with CHAC1 and PLA2G6, and CHAC1 was negatively correlated with LURAP1L, which may have an antagonistic effect. Model and immune correlation analyses found that high-risk patients had significantly higher levels of CD8+ T cells, regulatory T cells (Tregs), immune checkpoints, immune scores, and immune escape than those in low-risk patients. High-risk patients had a higher susceptibility to small-molecule drugs. CONCLUSION: A novel prognostic model of immune ferroptosis-related genes (ACADSB, CHAC1, LURAP1L, and PLA2G6), which plays an important role in immune infiltration, microenvironment, and immune escape, was constructed. It effectively predicts the survival of patients with KIRC.

4.
World J Clin Cases ; 10(16): 5400-5405, 2022 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-35812662

RESUMO

BACKGROUND: Renal papillary necrosis (RPN) is a rare disease. It is difficult to distinguish RPN with urinary tract obstruction from upper urinary tract occupying lesions. We reported a case of RPN and made a definite diagnosis largely based upon its endoscopic characteristics. CASE SUMMARY: A 75-year-old woman presented with right flank pain, visible hematuria and a body temperature greater than 39 ℃. Laboratory investigations revealed leukocytosis with 12.7 × 10/L white blood cells and 93.6% neutrophils. Blood creatinine was 333 umol/L. Ultrasonography showed hydronephrosis of the right kidney and a right distal ureteric lesion. After urgent placement of right ureteral double J stent and treatment with antibiotics, the patient's symptoms and the blood abnormalities improved rapidly. Computed tomography urography showed the presence of multiple occupying lesions in the right pelvis. The endoscopic ureteroscopy revealed that renal papillary necrosis and the subsequent migration of sloughed papillae into the upper ureter and calyces. The sloughed papillae appeared like "cottons", which were whitish, soft, and irregularly-shaped without blood supply. In addition, the necrotic and sloughed renal papillae were removed by flexible ureteroscopy to prevent further obstruction. Pathological examination found that infarcted renal papillae were associated with inflammatory exudation. Three months after discharge, follow-up computed tomography urography showed no obvious lesions in the renal pelvis. CONCLUSION: This case revealed the endoscopic features of RPN. In addition, flexible ureteroscopy proves to be vital in diagnosis and treatment of RPN.

5.
Pharmgenomics Pers Med ; 13: 181-188, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32581567

RESUMO

PURPOSE: The purpose of this study was to investigate the association between single nucleotide polymorphisms (SNPs) of CYP17A1, CYB5A and the efficacy of abiraterone acetate treatment in patients with castration-resistant prostate cancer (CRPC). PATIENTS AND METHODS: Data were collected from 58 CRPC patients who had been treated with abiraterone acetate/prednisone (AA/P). The SNPs rs743572 and rs10883783 on CYP17A1 and SNPs rs1790834 and rs1790858 on CYB5A were assayed, and their relationship with prostate-specific antigen (PSA) response in patients after AA/P treatment, overall survival (OS) and progression-free survival (PFS) were analyzed by logistic regression, Cox regression, Kaplan-Meier and Log rank analyses. RESULTS: The SNP rs1790834 on CYB5A showed significant association with PSA response in CRPC patients treated with AA/P (P < 0.05), but rs743572, rs10883783 and rs1790858 did not. The rs1790834 variant significantly decreased both PFS and OS (P < 0.05). CONCLUSION: The CYB5A rs790834 genotype is a novel SNP related to CRPC and may be used as a biomarker for CRPC treatment.

6.
Prostate Cancer ; 2020: 3964615, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32099679

RESUMO

Although prostate biopsy is the gold standard for the diagnosis of prostate cancer, it also leads to high incidence of negative biopsies and the diagnosis of clinically low-risk prostate cancer and the subsequent overtreatment. It remains an unmet need to discover new biomarkers in order to defer the unnecessary biopsies in clinical practice. In this study, we described a new method, LBXexo score, to measure the urine exosomal PCA3/PRAC expression from non-DRE urine as a noninvasive diagnosis to improve the detection rate in Chinese population with a low serum PSA level. First-voided urine samples were collected to isolate exosomes, and exosomal RNAs of PCA3 and PRAC were measured by quantitative reverse transcription PCR. A significant increase in exoPCA3/PRAC was observed in both any-grade and high-grade prostate cancer groups when compared with the biopsy-negative group. Receiver-operating characteristic curve analyses showed that the LBXexo score significantly improved diagnostic performance in predicting biopsy results, with AUCs of 0.723 (p=0.017) and 0.736 (p=0.038) for any-grade and high-grade (GS ≥ 7) prostate cancer, respectively. For high-grade cancer, LBXexo had the negative and positive predictive values of 100% and 27.59%, respectively, and could potentially avoid unnecessary biopsy. This is the first report in Chinese population that demonstrates the predictive value of the exosomal expression of PCA3 and PRAC derived from non-DRE urine in predicting prostate biopsy outcomes. It could be used in clinical practice to make a better informed biopsy decision and avoid unnecessary biopsies in Chinese population.

7.
World J Clin Cases ; 7(6): 727-733, 2019 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-30968037

RESUMO

BACKGROUND: Hydrocelectomy is the gold standard for the treatment of hydrocele, but it often causes complications after surgery, including hematoma, infection, persistent swelling, hydrocele recurrence, and chronic pain. In recent years, several methods for minimally invasive treatment of hydrocele have been introduced, but they all have limitations. Herein, we introduce a new method of individualized minimally invasive treatment for hydrocele. AIM: To present a new method for the treatment of adult testicular hydrocele. METHODS: Fifty-two adult patients with idiopathic testicular hydrocele were included. The key point of this procedure was that the scope of the resection of the sheath of the tunica vaginalis was determined according to the maximum diameter (d) of the effusion measured by ultrasound and the maximum diameter of the portion of the sheath pulled out of the scrotum was approximately πd/2. The surgical procedure consisted of a 2-cm incision in the anterior wall of the scrotum, drainage of the effusion, and dissection of part of the sheath of the tunica vaginalis. After the sheath was peeled away to the predetermined target extent, the pulled-out sheath was removed. The intraoperative findings and postoperative complications were analyzed. RESULTS: All patients were successfully treated with a median operation time of 18 min. The median maximum diameter of the effusion on ultrasound was 3.5 cm, and the median maximum diameter of the resected sheath was 5.5 cm. Complications occurred in four (7.7%) patients: two (3.8%) cases of mild scrotal edema, one (1.9%) case of scrotal hematoma, and one (1.9%) case of wound infection. All of the complications were grade I-II. Recurrent hydrocele, chronic scrotal pain, and testicular atrophy were not observed during a median follow-up of 12 mo. CONCLUSION: We report a new technique for individualized treatment of testicular hydrocele, which is quantitative and minimally invasive and yields good outcomes. Further study is warranted to verify its potential value in clinical practice.

8.
Oncol Lett ; 13(6): 4818-4824, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28599483

RESUMO

The present study aimed to investigate the effect of the negative costimulatory molecule programmed death-ligand 1 (PD-L1) on immunotherapy with OK-432, following transurethral resection of bladder tumors in non-muscle invasive bladder cancer (NMIBC), and to elucidate the underlying mechanism. PD-L1 was detected by immunohistochemical staining in tumor specimens from 55 cases of NMIBC following postoperative immunotherapy with OK-432. The PD-L1 mRNA and protein expression levels were measured in the bladder cancer T24 cell line and the human uroepithelial SV-HUC-1 cell line, following treatment with interleukin (IL)-2, interferon (IFN)-α and IFN-γ, by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and western blot analysis, respectively. PD-L1 was widely expressed in the NMIBC tumors, with 56.4% (31/55) of specimens exhibiting positive staining. When compared with PD-L1-negative patients, PD-L1-positive patients exhibited significantly increased recurrence [48.4% (15/31) vs. 16.7% (4/24)] and progression [16.1% (5/31) vs. 4.2% (1/24)] rates (P<0.05). RT-qPCR and western blotting demonstrated that cytokines IL-2, IFN-α and IFN-γ markedly upregulated PD-L1 mRNA expression rates and protein levels in bladder cancer T24 cells (P<0.05), but had no significant effect in non-tumor SV-HUC-1 cells. In conclusion, PD-L1 expression was negatively-associated with the efficacy of OK-432 intravesical immunotherapy in patients with NMIBC. The results indicated that the involved mechanism occurred via upregulation of PD-L1 by immune cytokines, which in turn suppressed the antitumor effectiveness of the immune system, thereby promoting tumor recurrence and progression.

9.
Zhonghua Yi Xue Za Zhi ; 83(15): 1296-9, 2003 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-12930680

RESUMO

OBJECTIVE: To study the expression levels and cell-specific expression patterns of steroid 5alpha-reductase type 1 and type 2 isoenzymes in human benign prostatic hyperplasia (BPH) tissues. METHODS: Immunohistochemistry and RT-PCR were used to investigate qualitatively and semi-quantitatively the expression of 5alpha-reductases type 1 and type 2 in 15 specimens of normal prostate tissues from dead kidney donor or patients undergoing cystectomy and 25 BPH tissues obtained from suprapubie enucleation. RESULTS: Both steroid 5alpha-reductase type 1 mRNA and protein and 5alpha-reductase type 2 mRNA and protein were present in the normal and BPH tissues, especially in the glandular epithelial cells and mainly in the cytoplasm. In the BPH group the expression of type 2 reductase in the periurethral tissues was significant higher than that in the subcapsular tissues (1.50 +/- 0.42 vs. 1.07 +/- 0.35, P < 0.01), however, there was no significant difference in the expression of type 1 reductase between these 2 zones (P > 0.05). The expression level of 5alpha-reductase type 2 mRNA in BPH tissues was significantly higher than that in the normal specimens (e.g. in periurethral zone 1.50 +/- 0.42 vs. 0.98 +/- 0.32, P < 0.01), but there was no statistically significant difference in the expression of 5alpha-reductase type 1 mRNA between these 2 groups (e.g. in periurethral zone 0.62 +/- 0.31 vs 0.51 +/- 0.24, P > 0.05). In BPH tissues, the expression of type 2 mRNA was significantly higher in the larger prostate tissues (>or= 40 g) than in the smaller ones (e.g. in periurethral zone 1.58 +/- 0.47 vs. 1.14 +/- 0.46, P < 0.05), however, there was no significant difference in the expression of 5alpha-reductase type 1 mRNA between the BPH tissues with different volumes. CONCLUSION: Type 2 5alpha-reductase plays an important role in the pathogenesis and maintenance of BPH. The role of type 1 expression in the pathogenesis of BPH needs further research.


Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/análise , Isoenzimas/análise , Hiperplasia Prostática/enzimologia , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Humanos , Imuno-Histoquímica , Isoenzimas/genética , Masculino , RNA Mensageiro/análise , Reação em Cadeia da Polimerase Via Transcriptase Reversa
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