ObjectiveTo analyze and identify the pathogenic mutation that caused a case of child’s renal coloboma syndrome (RCS).MethodsA child with congenital cataract in the right eye and optic disc defect in the left eye and his parents with normal phenotype were included in the study. The blood of the child and his parents were captured to extract DNA and make molecular test. The possible variants were screened through NGS sequencing using the ophthalmology gene panel on illumina NextSeq 500 platform, and proved the selected PAX2 mutation by Sanger sequencing. Pathogenicity report was retrieved through PubMed and related database. Pathogenicity analysis of the candidate mutated site has careful consideration of the patient’s clinical presentations and sequencing result base on Standards and Guidelines for the Interpretation of Sequence Variants revised by ACMG. According to the results of gene diagnosis, the child was executed related clinical examinations on kidney.ResultsThe sequence result showed that a heterozygous mutation in PAX2, c.70dupG (p.V26Gfs*28), which lead to truncated protein product that terminated after 28 amino acids of the mutated site. Both of his normal parents were not carriers of the heterozygous mutation. Sanger sequencing results of the child and his parents were consistent with the NGS sequencing. The autosomal dominant disease phenotype was inferred to be caused by the heterozygous mutation of c.70dupG (p.V26Gfs*28) of PAX2 gene. Renal color Doppler ultrasound results showed the child with small renal cysts on the left and mildly separated collecting system. Renal function tests showed the child with α1 microglobulin index increased.ConclusionThe heterozygous mutation c.70dupG (p.V26Gfs*28) in PAX2 is the genetic pathogenic cause for the patient with RCS.
ObjectiveTo investigate the anticoagulant drug treatment decision for patients with renal contusion and acute pulmonary embolism, and to enhance the level of treatment for this disease. MethodsA retrospective analysis of the clinical data of a patient with renal contusion and acute pulmonary embolism treated at the West China Hospital of Sichuan University, along with a relevant literature review. Databases including PubMed, Ovid Medline, Embase, VIP, Wanfang and Chinese National Knowledge infrastructure were searched using the keywords as “Pulmonary embolism” AND “Hemorrhage”from January 1983 to December 2023. ResultThe patient was a 21-year-old male who presented with right kidney contusion for 5 days and dyspnea for 1 day. The abdominal CT scan revealed a ruptured right kidney accompanied by hemorrhage and hematoma in the surrounding tissue. Abdomen ultrasound: a low echogenic area measuring approximately 10.6 cm×2.8 cm is noted around the right kidney. The CT pulmonary angiography (CTPA) demonstrated filling defects at the bifurcation of the pulmonary trunk, as well as within the upper and lower lobes of both lungs and their respective branches. The blood gas analysis of patient indicated (face mask oxygen therapy at 10 L/min, oxygenation index of 120): pH 7.456, PCO2 24.9 mm Hg, PO2 73.2 mm Hg. His myocardial markers were Myoglobin: 79.21 ng/ml, Troponin T: 58.7 ng/L, BNP: 2062 ng/L. The patient was diagnosed with renal contusion and pulmonary embolism, and was treated with subcutaneous heparin（initial dose is given as an 80 IU/kg intravenous bolus, followed by a continuous infusion of 12-18 IU/kg/h） and low-molecular-weight heparin at a dose of 0.8 ml every 12 hours one after another for anticoagulation, along with symptomatic treatment. Following the intervention, the patient's respiratory distress showed significant improvement, and subsequent arterial blood gas analysis indicated enhanced oxygenation. Then, the anticoagulant medication was adjusted to oral rivaroxaban anticoagulation for 6 months, follow-up CTPA scan revealed complete resolution of the pulmonary embolism and the abdominal CT scan indicated a reduction in the extent of patchy low-density shadows surrounding the right kidney, leading to the discontinuation of anticoagulation therapy. After searching the above-mentioned databases, total of 26 articles were identified that reported on 30 patients diagnosed with high-risk bleeding and acute pulmonary embolism; among these, 3 patients succumbed while 27 exhibited clinical improvement. ConclusionsPatients with renal contusion and acute pulmonary embolism can be safely and effectively treated with low-dose heparin anticoagulation under close monitoring. High-risk bleeding patients with acute pulmonary embolism present a significant challenge in clinical practice. After weighing the risks of bleeding disorders and the adverse outcomes of pulmonary embolism, it is necessary to find the optimal balance between anticoagulation and bleeding. Consequently, the formulation of personalized treatment strategies in accordance with established guidelines can enhance patient outcomes.
Rheumatoid arthritis (RA) is one of the most common chronic inflammatory diseases. It mainly involves joints, as well as extra-articular organs. The extra-articular manifestations (EAM) are more common in patients with severe active disease, and the mortality of RA patients with EAM is 2.5 times of RA patients without EAM. Renal damage is rare in EAM, which mainly includes renal damage associated with RA itself, renal amyloidosis, and drug-induced secondary renal damage. In recent years, researches on RA renal damage have gradually increased, and mainly focused on therapy and prognosis. The recent research progress of RA renal damage are summarized in this review.
Objective To explore the facilitative effects of different allogenic cells injected into the denervated muscles on the nerve regeneration, the protection of the myoceptor degeneration, and the promotion for rehabilitation of the muscular function. Methods Schwann cells, myoblast cells, and renal endothelial cells were prepared from 400 SD rats aged 7 days and weighing 20.0±2.3 g. Thirty-six adult female SD rats weighing 120-150 g were randomly divided into 4 groups(n=9). Under the asepsis condition, the left ischiadic nerves of all the SD rats were cut off, and the primary suture of the epineurium was performed. After operation, the different corresponding cells were injected into the triceps muscles of the rat calf in each group once per week for 4 times in all. One ml of Schwann cells (1×106/ml) was injected into the rats in Group A; 1 ml of the mixed cells of Schwann cells and myoblast cells (1×106/ml) was injected into the rats in Group B; 1 ml of the extract from the mixed cells of Schwann cells, myoblast cells, and renal endothelial cells (1×106/ml) was injected into the rats in Group C; 1 ml of the culture medium without any serum was injected into the rats in Group D as a control. After operation, observation was made for the general condition of the rats; 3 months after operation, enzymohistochemistry and the CJun expression were performedin the ventricornual motor neuron. At the proximal and the distal ends of the nerve suture, the density of neurilemma cells in the unit area and the area size of the regenerated nerve fibers were observed and measured. Results The affected limbs of the rats in Groups A, B and C improved 13 months after operation. The ulcers and swelling at the ankles gradually relieved and the rats could move normally 3 months after operation. However, the affected limbsof the rats in Group D still had ulcers and swelling, with an obvious contracture of the toes and a difficult movement. Three months after operation, the number of the target muscle myoceptor, the number of the Actin positive cells, the activity of the various enzymes in the denervated muscles, and the histological changes of the regenerated nerves were better in Group C than in Groups A and B (P＜0.01); and they were all better in Groups A, B and C than in Group D（Plt;0.01）. Conclusion Schwann cells, the mixture of Schwann cells and myoblast cells, and the extract from the mixture of Schwann cells, myoblast cells and renal endothelial cells can all promote neurotization and rehabilitation of the muscular function, and protect against the myoceptor degeneration. However, the effect of the extract is superior to that of Schwann cells or the mixed cells.
ObjectiveTo investigate the diagnostic value of serum cystatin-C (Cys-C) detection in hypertensive disorder complicating pregnancy patients. MethodsA hundred patients with pregnancy induced hypertension (PIH) were chosen as the research object from February 2012 to March 2013, and they were divided into mild group, moderate group and severe group according to the severity of the disease. The other 40 healthy pregnant women were selected as the controls (the control group). We compared the four groups in terms of Cys-C, serum urea nitrogen (BUN) and creatinine level, as well as the positive rate of Cys-C, BUN, and creatinine. ResultsCys-C, BUN, and creatinine in the PIH group were significantly higher than those in the control group (P<0.05). Cys-C and creatinine in preeclampsia mild group were significantly higher than those in the control group (P<0.05), but BUN level between the two was not statistically significant (P>0.05). Cys-C, BUN, and creatinine in the PIH moderate and severe groups were significantly higher than those in the control group (P<0.05). The abnormal rate of Cys-C in the PIH mild group was significantly higher than that of Cys-C and creatinine (P<0.05). ConclusionCys-C, BUN and creatinine can all show renal damage in PIH patients, but the Cys-C value in early diagnosis is better than that of BUN and creatinine. It can be used as a monitoring index of pregnancy-induced hypertension prevention and early treatment.
ObjectiveTo systematically review the value of contrast-enhanced ultrasound in diagnosis of benign and malignant renal tumors. MethodsSuch databases as PubMed, EMbase, The Cochrane Library (Issue 9, 2013), CBM, CNKI, WanFang Data and VIP were searched by Sep 31st, 2013. Two reviewers independently screened literature according to the inclusion and exclusion criteria, extracted data, and assessed the methodological quality of included studies. Then meta-analysis was performed using Meta-Disc 1.4 software. ResultsSeven studies involving 462 patients were finally included. ROC curve showed shoulder-arm shape. The results of Spearman suggested significance of the threshold effect. The results of meta-analysis showed that, the area under curve (AUC) was 0.98. ConclusionContrast-enhanced ultrasound can improve diagnostic accuracy, which is of important value in the diagnosis and differential diagnosis of benign and malignant renal tumors. Due to limited quality and quantity of the included studies, the abovementioned conclusion still needs to be verified by conducting more high quality studies.
Objective To systematically review the prognostic and clinicopathological value of plasma fibrinogen in renal cell carcinoma (RCC). Methods An electronic search of the PubMed, EMbase, The Cochrane Library (Issue 5, 2016), CNKI, CBM and WanFang Data databases was performed to collect cohort studies about the prognostic value of plasma fibrinogen in RCC from inception to May 2016. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then meta-analysis was performed by using RevMan 5.3 software. Results A total of 3 744 RCC patients from 7 cohort studies were included. The results of meta-analysis showed that the lower plasma fibrinogen expression group was superior to the higher expression group in overall survival (HR=2.13, 95%CI 1.74 to 2.61,P<0.00 001) and cancer-specific survival (HR=3.12, 95%CI 2.19 to 4.44,P<0.00 001). Subgroup analysis showed that plasma fibrinogen expression was higher in stage Ⅲ to Ⅳ than stage ⅠtoⅡ (OR=0.27, 95%CI 0.13 to 0.55,P=0.000 3) and was higher in Fuhrman grading G3+G4 than grading G1+G2 (OR=0.49, 95%CI 0.40 to 0.59,P<0.000 01). However, the level of plasma fibrinogen was not found to be associated with gender (OR=0.85, 95%CI 0.69 to 1.05,P=0.14). Conclusion Current evidence shows plasma fibrinogen expression is associated with the prognostic and clinicopathological value of RCC. Due to limited quantity and quality of included studies, the above conclusions are still needed to be verified by more high quality studies.
Objective?To evaluate the value of various CT features in differentiating renal angiomyolipoma (RAML) with minimal fat and renal cell carcinoma (RCC). Methods?The Cochrane Library, PubMed, MEDLINE (OVID), EMBase, and the Chinese Periodical Wed (CNKI, CBM, VIP) were searched. They were searched from Jan 2001 to Nov 2008. Trials screening, quality assessment, and data extraction was conducted according to the inclusion criteria recommended by the Cochrane Collaboration. The SROC curve and meta-analyses were performed by Meta-disc 1.4. Results?Seven trials, involving 482 patients and 513 tumors, were included. The studies were highly homogonous. It was considered that 8 features including single or multiple lesions, scanning density, calcification, angle with cortex, levering-cortex-up sign, lesions pro-trusion, homogeneous enhancement, and prolonged enhancement, played certain roles in differentiating RAML with minimal fat and RCC. Among these features, interface with the cortex was the most important, and the features of homogeneous enhancement and prolonged enhancement were the second most important. Conclusion?Besides measuring lipoid tissue in the tumor, there are another 8 features which are valuable to the differentiation of RAML with minimal fat and RCC.
Objective To investigate the effectiveness of percutaneous transluminal renal artery stenting (PTRAS) in treating atherosclerotic renal artery stenosis (ARAS). Methods A total of 69 patients with severe ARAS were treated with PTRAS between January 2002 and December 2008. There were 47 males and 22 females with an average age of 66.2 years(range, 42-88 years), including 66 cases of unilateral ARAS (single functional kidney, 1 case) and 3 cases of bilateral ARAS. Renal angiography revealed that the degree of renal artery stenosis was 70%-99%. Concomitant diseases included hypertension (67 cases), atherosclerosis obl iterans (69 cases), coronary heart disease (34 cases), diabetes (44 cases), and hyperl ipidemia (36 cases). Blood pressure, serum creatinine (sCr), and patency of the renal artery were measured to assess the effectiveness of PTRAS after 12 months. Results The renal artery stent was successfully implanted in 68 patients and the technical success rate was 98.6%. One patient was converted to il io-renal bypass because of intra-operative acute renal artery occlusion. One patient died of heart failure at 6 months after PTRAS, and 1 patient was lost at 3 months after PTRAS. The other 66 patients were followed up 32 months on average (range, 13-60 months). The blood pressure decreased significantly at 1 month and gained a further decrease at 12 months after PTRAS when compared with the preoperative ones [systol ic blood pressure: (132 ± 24) mm Hg vs (163 ± 34) mm Hg, P lt; 0.05; diastol ic blood pressure: (78 ± 11) mm Hg vs (89 ± 17) mm Hg, P lt; 0.05; 1 mm Hg=0.133 kPa]. Hypertension was cured in 4 cases (6.3%), improved in 52 cases (81.2%), failure in 8 cases (12.5%), and the overall benefit rate was87.5%. The sCr level was stable after 12 months of PTRAS, showing no significant difference when compared with preoperative basel ine [(107.8 ± 35.4) μmol/L vs (104.1 ± 33.8) μmol/L, P gt; 0.05]. Renal function was improved in 9 cases (13.6%), stable in 48 cases (72.8%), deterioration in 9 cases (13.6%), and the overall benefit rate was 86.4%. Instent restenosis found in 2 patients (3.0%) at 12 months after operation. Conclusion PTRAS is a safe and effective method to treat ARAS. It can control the blood pressure and stabil ize the renal function in most ARAS patients. Long-term efficacy needs further investigation.
ObjectiveTo systematically review the differential diagnostic value of contrast-enhanced ultrasound (CEUS) and contrast-enhanced CT (CECT) for renal solid space-occupying lesions. MethodsDatabases including EMbase, PubMed, The Cochrane Library (Issue 11, 2014), CNKI, CBM, VIP and WanFang Data were searched for diagnostic tests about CEUS and CECT for renal solid space-occupying lesions from inception to September, 2014. Two reviewers independently screened literature, extracted data and assessed the methodological quality of included studies. Then meta-analysis was performed using Meta-Disc 1.4 software. ResultsA total of 13 studies involving 754 specimens were included. The results of meta-analysis showed that:the sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, diagnostic odds ratio (combined effect and its 95%CI) in the CEUS group were 0.96 (95%CI 0.94 to 0.97), 0.77 (95%CI 0.70 to 0.83), 3.82 (95%CI 2.93 to 4.97), 0.06 (95%CI 0.04 to 0.10), 64.33 (95%CI 36.79 to 112.51), and in the CECT group were 0.84 (95%CI 0.81 to 0.87), 0.73 (95%CI 0.65 to 0.79), 2.81 (95%CI 2.22 to 3.56), 0.23 (95%CI 0.16 to 0.34), 13.85 (95%CI 6.79 to 28.26). There were significant differences between the CEUS group (0.960 8, 95%CI 0.927 3 to 0.994 3) and the CECT group (0.866 8, 95%CI 0.788 8 to 0.944 8) in the area under the summary receiver operating characteristic (SROC) curve (P<0.05). The similar results were observed in cases with small renal tumors≤4 cm (AUC:0.973 7 vs. 0.861 3, P<0.05). ConclusionCEUS has higher differential diagnostic value than CECT for renal solid space-occupying lesions.