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1.
JOURNAL OF RARE DISEASES ; (4): 79-86, 2024.
Article in English | WPRIM | ID: wpr-1006921

ABSTRACT

Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.

2.
JOURNAL OF RARE DISEASES ; (4): 57-62, 2024.
Article in English | WPRIM | ID: wpr-1006918

ABSTRACT

ObjectiveTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease involving multiple organ system. Renal angiomyolipoma (RAML) is a leading cause of death for adult TSC patients. Our study aims at investigating the clinical manifestations of TSC-RAML to enable clinicians to have a better understanding of the disease in Chinese patients.MethodsWe reviewed retrospectively the data collected from patients with TSC-RAML in Peking Union Medical College Hospital from January 2014 to January 2023. We also collected information about the age, gender, imageological examination, RAML stage, and comorbidities.ResultsA total of 186 TSC-RAML patients were registered, 65 of whom were males and 121 were females(male-to-female ratio 1∶1.86). The median age of all patients was 31 years old. Totally, 117 cases (62.9%)of RAML were rated stage 6. Twenty-two cases (11.8%) had a history of tumor rupture and bleeding. Research shows statistical differences between high and low grade on RAML rupture bleeding(P=0.0475). Angiofibromas/fibrous cephalic plaque (155/186, 83.3%), subependymal nodules(103/146, 70.5%), lymphangioleiomyomatosis (102/157, 65.0%), hypomelanotic macules (114/186, 61.3%), and shagreen patch (83/186, 44.6%)were the most common clinical manifestations. All patients with lymphangioleiomyomatosis(LAM) were female(P < 0.0001).ConclusionsFemale patients predominated TSC-RAML patients. Most RAML were in stage 6. About 11.8% cases had a history of tumor rupture and hemorrhage. The higher grade meant the higher proportion of tumor rupture and hemorrhage. Dermatological and nervous lesions were the most common comorbidities. All patients with LAM in this study were female.

3.
JOURNAL OF RARE DISEASES ; (4): 36-41, 2024.
Article in English | WPRIM | ID: wpr-1006915

ABSTRACT

Tuberous sclerosis complex(TSC) is a rare autosomal dominant genetic disorder caused by mutations in the TSC1 or TSC2 genes. The disease can cause multiple organ lesions. The most common renal lesions are renal angiomyolipoma(RAML). In recent years, China has made progresss in the understanding of TSC-RAML, so that the standardization of the diagnosis and management of TSC-RAML have improved. Efforts have been taken in the studies of the pathogenesis and treatment of TSC-RAML. This article reviews the diagnosis, therapy, and research development of TSC-RAML in China.

4.
JOURNAL OF RARE DISEASES ; (4): 118-123, 2024.
Article in English | WPRIM | ID: wpr-1006907

ABSTRACT

Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disease that affects multiple organs and systems throughout the body. TSC-associated kidney disease is the leading cause of death in adult TSC patients. This article retrospectively analyzed the characteristics of one TSC-related renal giant angiomyolipoma(RAML)treated with surgery. The patient, 25 years old, was diagnosed with tuberous sclerosis complex in 2000 due to multiple maculopapular rashes on both cheeks. At a regular follow-up in July 2019, imaging examinations revealed a tumor in the left lower quadrant with a maximum cross-sectional area of 16 cm×7 cm. Genetic testing showed a loss of heterozygosity in the EX18_ 41 of TSC2. After the diagnosis was confirmed, open left partial nephrectomy was performed, during which multiple tumors were found on the kidney surface and the largest one was located on the ventral side with a diameter of approximately 20 cm. After the renal artery was occluded, kidney tumors were completely enucleate. Postoperative pathological confirmed the diagnosis of angiomyolipoma. This case provides a reference for the treatment of TSC-related renal giant hamartoma.

5.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 179-189, 2024.
Article in Chinese | WPRIM | ID: wpr-1003423

ABSTRACT

Psoraleae Fructus (PF) is a non-toxic Chinese herbal medicine, while the liver injury caused by PF has aroused wide concern in recent years. At present, animal experiments and in vitro studies have been carried out to explore the mechanism, targets, and toxic components of PF in inducing liver injury, which, however, have differences compared with the actual conditions in clinical practice, and there are still some potential hepatotoxic components and targets of PF that have not been discovered. With the continuous progress in systems biology, establishing the drug-induced liver injury model and the liver injury prediction model based on network toxicology can reduce the cost of animal experiments, improve the toxicity prediction efficiency, and provide new tools for predicting toxic components and targets. To systematically explain the characteristics of liver injury in the application of PF and explore the potential hepatotoxic components and targets of PF, we reviewed the related articles published by China National Knowledge Infrastructure (CNKI), Wanfang Data, VIP, and PubMed from 1962 to 2021 and analyzed the characteristics and influencing factors of liver injury caused by PF in the patients. Furthermore, we summarized the chemical components of PF and the components entering blood. By reviewing the mechanism, targets, and components of PF in inducing liver injury that were discovered by in vivo and in vitro experiments, we summarized the known compounds in PF that may cause liver injury. Finally, the current methods for building the prediction model of PF-induced liver injury were summarized, and the predicted toxic components and targets were introduced. The possible factors of PF in causing liver injury were explained from three aspects: clinical characteristics, preclinical studies, and computer-assisted network prediction, which provide a reference for predicting the risk of PF-induced liver injury.

6.
Chinese Journal of Internal Medicine ; (12): 267-271, 2023.
Article in Chinese | WPRIM | ID: wpr-994403

ABSTRACT

Objective:To evaluate the ability of 68Ga-Pentixafor (nuclide ligand imaging agents for chemokine receptor 4) PET/CT to differentiate between aldosterone-producing adenoma (APA) and adrenal nonfunctional adenoma (NFA), and to assess how well this imaging method correlates with clinical features and postoperative outcomes. Methods:This was a cross-sectional study involving 73 APA and 12 NFA patients who received 68Ga-Pentixafor PET/CT imaging at Peking Union Medical College Hospital from August 2018 to October 2021. The receiver operating characteristic (ROC) curve was used to evaluate the differential value of visual analysis and the maximum standard uptake value (SUV max) of the focus on APA and NFA. The related factors of SUV max, and its predictive effect on postoperative outcomes were analyzed using Pearson or Spearman analysis and χ2 text. Results:68Ga-Pentixafor PET/CT imaging was positive in 64 APA patients (sensitivity=87.7%) and negative in all 12 NFA patients (specificity=100%). The area under the ROC curve with SUV max differentiating APA and NFA was 0.932 ( P<0.001). When the SUV max cut-off point was 6.23, the sensitivity was 80.8% and the specificity was 100%. The SUV max correlated positively with lesion size ( r=0.598) and aldosterone/renin activity ratio ( r=0.313) and correlated negatively with potassium level ( r=-0.286), renin activity ( r=-0.240) and age of diagnosis ( r=-0.273) (all P<0.05). Of the patients who underwent adrenalectomy and received more than 6 months of post-surgical follow-up, the clinical complete remission rate was higher for 68Ga-Pentixafor PET/CT imaging-positive patients than imaging-negative patients (24/39 vs. 0/4, P=0.031). Conclusions:68Ga-Pentixafor PET/CT is effective at differentiating between APA and NFA. The SUV max of 68Ga-Pentixafor PET/CT correlates with age at onset, lesion size, and the severity of clinical manifestations, and is able to predict postoperative outcomes.

7.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 112-121, 2023.
Article in Chinese | WPRIM | ID: wpr-973752

ABSTRACT

ObjectiveBased on ultra performance liquid chromatography-quadrupole-time-of-flight mass spectrometry(UPLC-Q-TOF-MSE) technique, we identified qualitatively the metabolites of aristolochic acid(AAs) in rat in order to analyze the metabolic differences between water extract of Aristolochiae fructus(AFE) and Aristolochic acid Ⅰ(AAⅠ). MethodSD rats were selected and administered AFE(110 g·kg-1·d-1) or AAⅠ(5 mg·kg-1·d-1) by oral for 5 days, respectively. Serum, urine and feces were collected after administration. Through sample pretreatment, ACQUITY UPLC BEH C18 column(2.1 mm×100 mm, 1.7 μm) was used with the mobile phase of 0.01% formic acid methanol(A)-0.01% formic acid water(B, containing 5 mmol·L-1 ammonium acetate) for gradient elution(0-1 min, 10%B; 1-7 min, 10%-75%B; 7-7.2 min, 75%-95%B; 7.2-10.2 min, 95%B; 10.2-10.3 min, 95%-10%B; 10.3-12 min, 10%B) at a flow rate of 0.3 mL·min-1. Positive ion mode of electrospray ionization(ESI+) was performed in the scanning range of m/z 100-1 200. In combination with UNIFI 1.9.4.053 system, the Pathway-MSE was used to qualitatively analyze and identify the AAs prototype and related metabolites in biological samples(serum, urine and feces), and to compare the similarities and differences of metabolites in rats in the subacute toxicity test between AFE group and AAⅠ group. ResultCompared with AAⅠ group, 6, 10, 13 common metabolites and 14, 20, 30 unique metabolites were identified in biological samples(serum, urine and feces) of AFE group, respectively. Moreover, the main AAs components always followed the metabolic processes of demethylation, nitrate reduction and conjugation. Compared with common metabolites in AAⅠ group, prototype components of AAⅠ in serum and most metabolic derivatives of AAⅠ[AAⅠa, aristolochic lactam Ⅰ(ALⅠ)a, 7-OHALⅠ and its conjugated derivatives] in biological samples were significantly increased in AFE group(P<0.05, P<0.01), except that the metabolic amount of ALⅠ in feces of AFE group was remarkably lowed than that of AAⅠ group(P<0.01). In addition, a variety of special ALⅠ efflux derivatives were also identified in the urine and feces of the AFE group. ConclusionAlthough major AAs components in AFE all show similar metabolic rules as AAⅠ components in vivo, the coexistence of multiple AAs components in Aristolochiae Fructus may affect the metabolism of AAⅠ, and achieve the attenuating effect by increasing the metabolic effection of AAⅠ and ALⅠ.

8.
Chinese Journal of Urology ; (12): 818-824, 2022.
Article in Chinese | WPRIM | ID: wpr-993927

ABSTRACT

Objective:To investigate the etiological spectrum, clinical features, and surgical treatment of patients with Cushing's syndrome (CS) who underwent adrenal surgery.Methods:From August 2002 to August 2022, the clinical data of 985 patients with Cushing's syndrome who underwent surgical treatment in the department of urology, Peking Union Medical College Hospital were retrospectively analyzed. There were 210 males and 775 females. The average age was 43.33±13.49 years old. The age of males was older than that of females (45.53±14.39 vs. 42.68±13.16 years, P=0.016). The principle of preoperative surgical method selection for patients in this group was described as follow. For adrenocorticotropin (ACTH) independent CS, adrenal tumor resection was considered for unilateral solitary lesions and unilateral adrenalectomy was considered for unilateral multiple lesions. For bilateral lesions, the larger tumor was removed first, and the contralateral operation was decided according to the follow-up results. Patients with suspicion of cortical cancer are subjected to R0 resection, and open surgery was performed if the tumor diameter is≥6 cm. The clinical characteristics of CS patients were summarized. The clinical symptom characters, etiology spectrum and the corresponding selection principles of surgical methods were analyzed. Results:Among the 985 cases, ACTH-independent CS accounted for 92.8% (914/985), and ACTH-dependent CS accounted for 7.2% (71/985). According to the postoperative pathological results, ACTH-independent CS was the most common, among which adrenal adenoma was the most common 75.94% (748/985), PBMAH 11.37% (112/985), Cushing's disease 4.26% (42/985), PPNAD 3.25% (32/985), EAS 2.94 (29/985), cortical carcinoma 2.23% (22/985). In terms of clinical manifestations, full moon face, bloody face, buffalo back, central obesity and weight gain were more common. The incidence of the above single symptoms was >30%. In terms of hormone secretion, the cortisol level of ACTH-dependent CS patients was significantly higher than that of ACTH-independent CS ( P<0.001). Cortisol [(16.61±6.78) μg/dl] and 24h-UFC [103.65 (59.83, 175.70) μg/24h] in patients with subclinical cortical adenoma were lower than those in other types of patients ( P<0.001). Among the patients with bilateral adenomas, 4 patients underwent simultaneous resection of bilateral adrenal tumors due to severe CS symptoms, and the remaining 74 patients underwent two-stage simple tumor resection, total adrenalectomy or subtotal adrenalectomy according to the size and number of tumors. Of the 22 patients with cortical carcinoma, 2 patients underwent R0 resection after neoadjuvant therapy with mitotane after being diagnosed by needle biopsy due to local infiltration of the tumor. In patients with EAS and Cushing's disease, 62.07% (18/29) and 23.81% (10/42) were treated with simultaneous bilateral target gland resection due to severe CS symptoms, respectively. In 112 cases of PBMAH and 32 cases of PPNAD, the initial treatment was unilateral adrenalectomy or subtotal adrenalectomy, and the follow-up was continued to decide whether to perform contralateral adrenalectomy or subtotal adrenalectomy. Conclusions:The etiological spectrum of CS patients admitted to the urology department is different from that of the overall CS, and is dominated by adrenal disease, and Cushing's disease is rare. Due to the different etiological spectrum, the patient's symptom spectrum is different, and difficulty in squatting and fracture are rare. The main treatment for unilateral adrenal disease is tumor resection or unilateral adrenalectomy. For ACTH-dependent CS in bilateral lesions, bilateral adrenalectomy is recommended, and hormone supplementation is recommended after surgery. For ACTH-independent CS, unilateral adrenalectomy is recommended first, and individualized treatment plans are formulated based on the results of follow-up.

9.
Chinese Journal of Urology ; (12): 812-817, 2022.
Article in Chinese | WPRIM | ID: wpr-993926

ABSTRACT

Objective:To explore the clinical value of 68Ga-pentixafor PET/CT targeting for CXCR4 in the diagnosis and prognosis evaluation of primary aldosteronism (PA). Methods:Retrospective analysis was performed on information of 72 patients diagnosed with PA who received operations according to the results of 68Ga-pentixafor PET/CT in our hospital. There were 37 males and 35 females, with the average age of (48.3±9.5) years old. The average lesion diameter was (1.60 ± 0.54)cm. The preoperative systolic and diastolic blood pressure were (177.3 ± 23.9)mmHg and (107.6 ± 13.2)mmHg, respectively. The average preoperative potassium level was (2.62 ± 0.56)mmol/L. The average aldosterone concentration was (17.98 ± 4.66)ng/dl, and the median plasma renin activity was 0.01 (0.01, 0.09) ng/(ml·h). All patients underwent 68Ga-pentixafor PET/CT examination, which lead to the decision of surgical strategies. For those patients with single lesion, multiple lesions in one side or positive lesion in one side but negative in the opposite side, surgical resection of the positive side lesion or total adrenalectomy was considered. For those patients with bilateral positive lesions, surgical resection of the side with more significant positive lesions or total adrenalectomy was considered. For those with negative multiple lesions, the surgical strategy was designed according to the results of CT examination or AVS. The positive rate of 68Ga-pentixafor PET/CT and its relationship with the clinical characteristics and prognosis of patients were analyzed. Results:The results of 68Ga-pentixafor PET/CT were positive in 62 of 72 patients diagnosed with PA (86.1%), and the median SUVmax value was 11.1 (7.1, 16.2). The SUVmax value was positively correlated with the maximum diameter of adrenal lesion ( r=0.468) and negatively correlated with blood potassium levels ( r=-0.437), while not significantly correlated with other clinical characteristics. The positive rate of adenoma by 68Ga-pentixafor PET/CT was higher than that of nodular hyperplasia [90.5%(57/63) vs. 55.6%(5/9), P=0.018], and the SUVmax value in adenoma was also higher than that in nodular hyperplasia [11.9(7.8, 16.2) vs. 4.3(3.4, 11.3), P=0.022]. 32 cases were cured after operations, and 37 cases were improved. And 3 cases were not cured. The SUVmax value of lesions in the cured patients was higher than that in the improved patients [15.4(8.1, 22.7) vs. 10.1(6.8, 13.3), P=0.013]. Among 59 cases of PA patients with single adrenal lesions, 50 cases represented positive results of 68Ga-pentixafor PET/CT. 23 cases in 50 positive cases were cured and 27 cases were improved after resection of positive lesions. In the 13 PA patients with multiple adrenal lesions who underwent surgery according to the results of 68Ga-pentixafor PET/CT, 12 patients (92.3%) showed postoperative prognosis in line with preoperative expectations. Conclusions:68Ga-pentixafor PET/CT showed high positive rate in the diagnosis of PA, especially for adenoma.The SUVmax value of the adrenal lesion was correlated with the blood potassium level, the size of the lesion and the postoperative prognosis. In addition, 68Ga-pentixafor PET/CT could effectively guide the surgical decision of PA.

10.
Chinese Journal of Urology ; (12): 807-811, 2022.
Article in Chinese | WPRIM | ID: wpr-993925

ABSTRACT

WHO issued the fifth edition of classification of neuroendocrine neoplasms in 2022. The content of paragangliomas and pheochromocytomas (PPGL) was updated compared with the fourth edition in 2017. In the fifth edition of PPGL classification system, the author redefined the concepts that were vague and unclear in the past, and also put forward some new ideas. On this basis, this article introduces the relevant updates in combination with the current clinical situation in China. The content includes the concept evolution of paragangliomas and pheochromocytomas, accurate interpretation of the definitions of paraganglioid tumor, composite paraganglioma, adrenal medullary hyperplasia, and micro-pheochromocytoma. This article also help readers to understand molecular diagnostic and prognostic markers, the definition and clinical staging of benign and malignant PPGL. The domestic scholars can unify some concepts in PPGL to avoid confusion and facilitate academic exchanges through the discussion of these key concepts.

11.
Chinese Journal of Urology ; (12): 751-757, 2022.
Article in Chinese | WPRIM | ID: wpr-993915

ABSTRACT

Objective:To explore the feasibility of deep learning technology for renal artery recognition in retroperitoneal laparoscopic renal surgery videos.Methods:From January 2020 to July 2021, the video data of 87 cases of laparoscopic retroperitoneal nephrectomy, including radical nephrectomy, partial nephrectomy, and hemiurorectomy, were retrospectively analyzed. Two urological surgeons screened video clips containing renal arteries. After frame extraction, annotation, review, and proofreading, the labeled targets were divided into training set and test set by the random number table in a ratio of 4∶1. The training set was used to train the neural network model. The test set was used to test the ability of the neural network to identify the renal artery in scenes with different difficulties, which was uniformly transmitted to the YOLOv3 convolutional neural network model for training. According to the opinion of two senior doctors, the test set was divided into high, medium, and low discrimination of renal artery and surrounding tissue. High identification means a clean renal artery and a large exposed area. For middle recognition degree, the renal artery had a certain degree of blood immersion, and the exposed area was medium. Low identification means that the exposed area of the renal artery was small, often located at the edge of the lens, and the blood immersion was severe, which may lead to lens blurring. In the surgical video, the annotator annotated the renal artery truth box frame by frame. After normalization and preprocessing, all images were input into the neural network model for training. The neural network output the renal artery prediction box, and if the overlap ratio (IOU) with the true value box was higher than the set threshold, it was judged that the prediction was correct. The neural network test results of the test set were recorded, and the sensitivity and accuracy were calculated according to IOU.Results:In the training set, 1 149 targets of 13 videos had high recognition degree, 1 891 targets of 17 videos had medium recognition degree, and 349 targets of 18 videos had low recognition degree. In the test set, 267 targets in 9 videos had high recognition degree, 519 targets in 11 videos had medium recognition degree, and 349 targets in 18 videos had low recognition degree. When the IOU threshold was 0.1, the sensitivity and accuracy were 52.78% and 82.50%, respectively. When the IOU threshold was 0.5, the sensitivity and accuracy were 37.80% and 59.10%, respectively. When the IOU threshold was 0.1, the sensitivity and accuracy of high, medium and low recognition groups were 89.14% and 87.82%, 45.86% and 78.03%, 32.95%, and 76.67%, respectively. The frame rate of the YOLOv3 algorithm in real-time surgery video was ≥15 frames/second. The false detection rate and missed detection rate of neural network for renal artery identification in laparoscopic renal surgery video were 47.22% and 17.49%, respectively (IOU=0.1). The leading causes of false detection were similar tissue and reflective light. The main reasons for missed detection were image blurring, blood dipping, dark light, fascia interference, or instrument occlusion, etc.Conclusions:Deep learning-based renal artery recognition technology is feasible. It may assist the surgeon in quickly identifying and protecting the renal artery during the operation and improving the safety of surgery.

12.
Journal of Pharmaceutical Analysis ; (6): 733-742, 2022.
Article in Chinese | WPRIM | ID: wpr-991099

ABSTRACT

Pruni Semen,the seed of several unique Prunus plants,is a traditional purgative herbal material.To determine the authentic sources of Pruni Semen,46 samples from four species were collected and analyzed.Ten compounds including multiflorin A(Mul A),a notable purative compound,were isolated and identified by chemical separation and nuclear magnetic resonance spectroscopy.Seventy-six communal components were identified by ultra-high performance liquid chromatography with linear ion trap-quadrupole Orbitrap mass spectrometry,and acetyl flavonoid glycosides were recognized as characteristic constituents.The flavonoids were distributed in the seed coat and cyanogenic glycosides in the kernel.Based on this,methods for identifying Pruni Semen from different sources were established using chemical fingerprinting,quantitative analysis of the eight principal compounds,hierarchical cluster analysis,principal component analysis,and orthogonal partial least squares discriminant analysis.The results showed that the samples were divided into two categories:one is the small seeds from Prunus humilis(Ph)and Prunus japonica(Pj),and the other is the big seeds from Prunus pedunculata(Pp)and Prunus triloba(Pt).The average content of Mul A was 3.02.6.93,0.40,and 0.29 mg/g,while the average content of amygdalin was 18.5,17.7,31.5,and 30.9 mg/g in Ph,Pj,Pp,and Pt,respectively.All the above information suggests that small seeds might be superior sources of Pruni Semen.This is the first comprehensive report on the identification of chemical components in Pruni Semen from different species.

13.
Chinese Journal of Endocrine Surgery ; (6): 756-759, 2022.
Article in Chinese | WPRIM | ID: wpr-989882

ABSTRACT

Paraganglioma and pheochromocytoma (PPGL) is an uncommon neuroendocrine tumor with variable metastatic potential which is related to multiple factors, and has a clear genetic background. Metastatic PPGL requires systemic intervention after failure of surgical treatment, but the overall efficacy is poor. In this review, the related literatures were reviewed to describe PPGL from the histological origin and name evolution, genetic background and metastasis risk, metastasis risk prediction and prognosis assessment, challenges in the clinical staging and progress in the systemic treatment.

14.
Chinese Journal of Endocrine Surgery ; (6): 564-567, 2021.
Article in Chinese | WPRIM | ID: wpr-930260

ABSTRACT

Primary aldosteronism is a type of endocrine diseases caused by excessive secretion of aldosterone by adrenal glands. Refractory hypertension and hypokalemia are known as common clinical features. In addition to medical therapy, surgical treatment can achieve a better therapeutic effect. This article mainly describes the common clinical manifestations, screening test and confirming diagnosis of primary aldosteronism, and discusses the clinical strategy and postoperative prognosis of unilateral aldosteronism adenoma and unilateral adrenal hyperplasia via surgery.

15.
Chinese Journal of Urology ; (12): 925-931, 2021.
Article in Chinese | WPRIM | ID: wpr-911151

ABSTRACT

Objective:To comprehensively analyze the expression profile of circular RNA (circRNA) and construct competing endogenous RNA (ceRNA) regulatory networks in tuberous sclerosis complex related renal angiomyolipoma (TSC-RAML).Methods:According to the diagnostic criteria of TSC determined by the international consensus group on tuberous sclerosis in 2012, tumor tissues and paired normal renal tissues of 3 patients with TSC-RAML who were diagnosed in our hospital from January 2017 to January 2019 were collected. The circRNA, miRNA and mRNA of 3 paired samples were detected by circRNA, miRNA chip technology and next generation sequencing respectively, and the differential molecules were determined. Gene Ontology(GO) functional enrichment analysis and Kyoto Encyclopedia of genes and genomes(KEGG) pathway enrichment analysis were performed based on differential mRNA molecules and host genes of circRNA. Based on differential circRNA, miRNA and mRNA, up-regulated and down-regulated ceRNA regulatory networks were established.Results:A total of 330 up-regulated and 336 down-regulated differential circRNA, 8 up-regulated and 7 down-regulated miRNA, 800 up-regulated and 1130 down-regulated mRNA were screened. Through GO and KEGG enrichment analysis, many pathways including lipid metabolism, focal adhesion and mineral absorption were abnormally altered. Finally, the up-regualted ceRNA network led by hsa_circ_0092022, hsa_circ_0076859 and hsa_circ_0033388 and down-regulated network led by hsa_circ_0000374, hsa_circ_0000141, hsa_circ_0072665, hsa_circ_0009503 and hsa_circ_0000009 were constructed.Conclusions:There were many differentially expressed circRNA between TSC-RAML and paired normal renal tissues. ceRNA regulatory networks may be involved in the occurrence and development of TSC-RAML.

16.
Chinese Journal of Urology ; (12): 252-257, 2021.
Article in Chinese | WPRIM | ID: wpr-884999

ABSTRACT

Objective:Analysis of the clinical characteristics and genetic mutations of ten tuberous sclerosis complex(TSC) families to provide support for clinical diagnosis of TSC.Methods:Retrospective analysis of ten TSC family probands and their members were performed with detailed medical history collection and physical examination. The study consisted of 26 patients in 10 TSC families, including 12 males and 14 females, with male to female ratio of 1∶1.17, and aged 7-65 years. In terms of skin lesions, there were 24 cases of facial angiofibromas, 20 cases of hypomelanotic macules, 16 cases of ungual fibromas, and 9 cases of shagreen patch. There were 12 cases of renal angiomyolipoma, 4 cases of subependymal nodules based on craniocerebral CT, and 1 case of lymphangioleiomyomatosis. Four cases had a history of seizures. Peripheral blood was extracted for next generation DNA sequencing.Results:A total of 23 TSC patients were genetically tested, and a total of 14 patients in 6 families were TSC2 mutations(5 frameshift mutations, 5 heterozygous deletions, and 4 nonsense mutations), a total of 4 patients in 2 families were TSC1 nonsense mutations, and no mutations were seen in the 2 families.Conclusions:A total of 10 TSC families were summarized, and the patients mainly had skin manifestations and kidney lesions.There were 18/23 patients having TSC1/2 mutations, of which TSC2 mutations accounting for 14/18. In the two non-mutant families, patients mainly had facial angiofibroma and/or hypomelanotic macules.

17.
Chinese Journal of Urology ; (12): 267-271, 2019.
Article in Chinese | WPRIM | ID: wpr-745582

ABSTRACT

Objective To analyze the clinical characteristics for hypertensive attack during operation and clinical experience of preoperative evaluation and preparation in patients with pheochromocytoma and paraganglioma(PHEO/PGL).Methods A total 219 PHEO/PGL cases from September 2016 to September 2018 were retrospectively reviewed.It included 99 males and 120 females,aged 13 to 76 (average 47) years old.The mean diameter of tumor was 5.3 cm (1.5-18.0 cm).140 cases were unilateral PHEO,6 cases were bilateral PHEO,68 cases were PGL(jugular,mediaphragm,heart,retroperitoneum,pelvic and bladder) and 5 cases were PHEO combined with PGL.Preoperative highest systolic blood pressure (SBP)was 240 mmHg(1 mmHg-0.133 kPa) and highest diastolic blood pressure (DBP) was 160 mmHg.20 cases were occult PHEO without hypertension.217 cases accepted preoperative preparation of alpha-blocker [phenoxy-benzamine,dosage ranging from 5 mg Q12h to 40 mg Q8h,maximum dosage not exceeding 1 mg/(kg· 24 h)].2 cases did not accept preoperative preparation.All cases accepted open or endoscope surgery.The patients were divided into 2 groups depending on the presence or absence of hypertensive attack at the time of surgery.Patient demographic characteristics and preoperative evaluations were assessed for their prognostic relevance with respect to hypertensive attack.Results Histopathological results showed that all cases were PHEO or PGL,while 205 cases were benign,14 cases were malignant.Hypertensive attack were recorded in 112 cases(51%).The diameter of tumors in the hypertensive attack group were larger than that in the non-hypertensive attack group[(6.70 ± 2.95)cm vs.(3.95 ± 1.70) cm,P =0.005].There was no significant difference between the two groups among age [(51.0 ± 10.8) years vs.(38.5 ± 17.6) years,P =0.105],preoperative catecholamine level [norepinephrine (111.20 ± 41.49) μg/24 h vs.(419.15 ± 154.81) μg/24 h,P =0.075],time of use of alpha blockers [(53.0 ± 7.5) d vs.(38.0 ± 6.4) d,P =0.139],daily dosage of alpha blocker [(40.0 ±7.2)mg vs.(27.1 ± 1.8) mg,P =0.111] and blood pressure at diagnosis[(173.75 ± 26.69) mmHg vs.(155.0 ± 20.75) mmHg,P =0.139].Among 219 cases,2 case had emergency hemostasis after operation,1 case had catecholamine cardiomyopathy after operation for occult pheochromocytoma,and no perioperative death occurred.Conclusions Patients with large tumor tend to have hypertensive attack during operation so that should be better prepared.

18.
Chinese Journal of Urology ; (12): 333-337, 2018.
Article in Chinese | WPRIM | ID: wpr-709526

ABSTRACT

Objective To discuss the diagnosis,perioperative treatment,cardiac function changing of pheochromocytoma/paraganglioma (PHEO/PGL) patients with catecholamine cardiomyopathy.Methods Fifteen PHEO/PGL patients with catecholamine cardiomyopathy were included in our hospital from Jan 2008 to Mar 2018.There were 8 males and 7 females with an average age of 32.8 years,ranging 13-64 years old.4 cases were found left PHEO.4 cases were found right PHEO and 3 cases were bilateral PHEO,including 2 cases of VHL.One case was jugular PGL.2 cases were lift PGL and 1 case was right PGL.The tumors diameter ranged from 2.3 to 7.2 cm.14 patients were diagnosed as PHEO/PGL with catecholamine cardiomyopathy with typical clinical manifestations of PHEO/PGL,such as headache,palpitation and perspiration.Their 24 hours of urine catecholamines showed an average of 24.87 μg/24 h in epinephrine and 551.70 μg/24 h in norepinephrine.Their average value of dopamine was 395.41 μg/24 h.Among 7 cases,the octreotide scan and Iodine-131-meta-iodobenzylguanidine (131 I-MIBG) s scan were positive in 6 and 1 case,respectively.Enhanced CT showed significantly heterogeneous enhancement tumors in adrenal or retroperitoneal area.Ischemia and necrosis area were found inside tumors.The blood flow of some tumors were extremely rich and irregular vascular network with a racemose distribution around the tumors could be observed.Echocardiography showed that the left ventricular ejection fraction (LVEF) ranged from 32% to 54%,mean (42.0 ± 7.1) % during catecholamine cardiomyopathy.5 cases were mild abnormal,which the LVEF ranged from 45% to 54%.9 cases were moderate abnormal,which the LVEF ranged from 30% to 44%.Their catecholamine cardiomyopathy performance including left ventricular hypertrophy,myocardial echo enhancement and left ventricular enlargement.9 cases combined with acute left ventricular failure manifested as pulmonary edema and pink foamy phlegm.Sensitive antibiotics were given to suspected pulmonary infection patients.14 cases accepted regular alpha blockers,beta blockers and calcium antagonists treatment for 1 to 3 months and underwent surgery after a significant improvement in cardiac function.1 non-functional PHEO patient was lack of typical clinical and imaging changing.Both of her 24 hours of urine catecholamines and octreotide scan were negative.Echocardiography showed that LVEF was 73% before operation.She was misdiagnosed as an adrenal non-functional adenoma.All patients underwent surgical treatment,including 13 laparoscopic surgery.One case switched to open surgery.2 PGL patients all accepted open surgery.Rusults All cases accepted complete resection of the tumors.1 case of nonfunctional PHEO had severe fluctuations in blood pressure during operation.Her BP were 190/130 to 80/50 mmHg (1 mmHg =0.133 kPa) and heart rate raised to 150 bpm.Catecholamine cardiomyopathy appeared in ICU ward after operation.Echocardiography showed that LVEF was 37%.The left ventricular enlargement and myocardial systolic function decreased.Fibrous bronchoscopy showed pink foamy phlegm in both sides of lungs.Chest X ray showed bilateral pulmonary edema which predominant in left side.The diagnosis was catecholamine cardiomyopathy of this patient.The LVEF was (55.9 ± 7.6)% after treatment in 14 PHEO/ PGL patients with catecholamine cardiomyopathy,and there was statistically significant difference between before and after treatment (P =0.041).The LVEF was (66.1 ± 8.5) % postoperation,and there was statistically significant difference between postoperation and after treatment (P =0.013).The non-functional PHEO case occurred severe catecholamin cardiomyopathy after operation and cardiac function recovered after treatment.15 cases were followed up from 1 months to 10 years without recurrence.Conclusions PHEO/PGL patients with catecholamine cardiomyopathy should have adequate medication.The abnormal cardiac function of patients would be reversed after surgical treatment.Cardiac function failure would be recovered after active treatment.Non-functional pheochromocytoma patients were extremely dangerous.Adequate medication should be given to any suspected non-functional pheochromocytoma patients.

19.
Chinese Journal of Urology ; (12): 329-332, 2018.
Article in Chinese | WPRIM | ID: wpr-709525

ABSTRACT

Objective We aimed to investigate the overexpression of succinic dehydrogenase (SDH) B and MIB-1 in patients with pheochromocytoma/paraganglioma(PHEO/PGLs) and its significance for predicting the clinical malignant behavior.Methods From August 2008 to April 2016,the clinical characteristics of 93 patients with PHEO/PGLs were analyzed retrospectively.There were 57 males and 36 females,with an average of 34 years,ranging 8-73 years old.There were 68 cases of adrenal pheochromocytoma and 25 cases of paraganglioma.There were 79 cases with hypertension and 14 cases of adrenal accidental tumors.Sixty-six cases with typical hyper-catecholamine secretion symptoms and 27 cases with non-functional PHEO/PGL.Benign PHEO/PGLs were 77 cases and malignant 16 cases.The tumor was located on the left side in 39 cases,on the right side in 32 cases and multiple lesions in 22 cases.The diameter of the PHEO/PGL tumor was (6.8 ± 2.7) cm.The 24 h urine catecholamine was measured before operation,which showed epinephrine was (42.6 ± 5.1) μg/24 h,norepinephrine was (167.5 ± 13.5) μg/24h and dopamine was (246.4 ± 71.2)μg/24h.Six cases wihtout hereditary diseases of urinary system were selected as normal control group.SDHB,SDHAF2,SDHC,SDHD,VHL and RET gene mutations were detected in all patients.Immunohistochemical panel has been performed to detect the expression of SDHB,MIB-1,EPAS1,VEGF-1 receptor (VEGF-1 R),and chromain A (CgA) in 93 specimens of PHEO/PGL tissue.The positive granular cytoplasm staining > 50% was strongly positive (+ + +),11% to 50% was moderately positive (+ +),1% to 10% was weak positive (+) and the negative was compared with the known positive internal reference,that is,there was less than 1% or no stain completely.Results SDHB,SDHAF2,SDHC,SDHD,VHL and RET gene mutations in 27 cases (29.5%).Nine patients with SDHB gene mutation (9.7%).RET proto-oncogene mutations in 8 cases (8.6%).3 cases had VHL mutation (3.2%).Immunohistochemical staining showed that MIB-1 positive expression was found in 7 of 9 patients with SDHB gene mutation.Six cases in the control group were negative for gene detection and MIB-1,EPAS1,CgA and VEGF-1R immunohistochemical results.EPAS1 showed moderately positive in patients with PHEO/PGL and strong positive in patients with malignant PHEO/PGL.In 9 cases with SDHM mutation,EPAS1 was noticed positive in seven cases,which showed the relationship with CgA,MIB-1 and VEGF-1R.Conclusions The SDHB gene mutation is usually shown as a paraganglioma focus outside the adrenal gland.And 9.8% of the paragangliomas were associated with a mutation of the SDHB gene with an increase in malignant risk.The SDHB mutation caused over-expression of MIB-1 and the positive expression of EPAS1 and VEGF-1R in PHEO/PGL tissues,which was associated with invasion and metastasis of malignant PHEO/PGL.

20.
Chinese Journal of Endocrine Surgery ; (6): 184-187, 2017.
Article in Chinese | WPRIM | ID: wpr-617298

ABSTRACT

Objective To investigate the operative indication,therapeutic effects and feasibility of laparoscopic bilateral cortical-sparing adrenalectomy for pheochromocytoma.Methods The clinical data of 9 cases of bilateral pheochromocytoma from Jan.2011 to Dec.2016 were retrospectively analyzed.The cases included 7 males and 2 females with a mean age of 40 years old,ranging from 22 to 58.CT showed all the 9 cases had bilateral adrenal tumors.Results All patients accepted laparoscopic bilateral cortical-sparing adrenalectomy for pheochromocytoma.All survived and had been followed up for 4 months to 6 years (median 3.2 years).All cases kept normal adrenal function and avoid long-term corticosteroid dependence.Conclusions Bilateral pheochromocytoma is rare and difficult to treat.Adrenal function protection under laparoscopic bilateral cortical-sparing adrenalectomy for pheochromocytoma is safe and effective for patients.This opertation can both completely resect bilateral adrenal tumors and avoid long-term corticosteroid dependence.

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