Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

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.

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.

Tuberous 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.

Objective:Analyze the impact of smoking on the mortality and life expectancy of residents in Tianjin in 2019.Methods:Use mortality case-control study method to collect all cause of death cases of residents in Tianjin in 2019 for analysis. After adjusting for the 5-years-old age group, education level, and marital status, the smoking attributed deaths from different diseases of different genders, smoking attributed deaths in different age groups, and their impact on life expectancy were analyzed.Results:The total number of deaths in 2019 was 75 254, with 42 201 males (56.1%). Among male deaths, 3 215 (9.9%) were attributed to smoking, of which 2 157 (50.2%) lung cancer deaths were attributed to smoking; The risk of lung cancer death among smokers was 3.075 times higher than that of non-smokers (95% CI: 2.812-3.364); Among the 33 053 female deaths (43.9%), 1 396 (5.8%) were caused by smoking, with 744 (29.1%) lung cancer deaths attributed to smoking. The age group with the highest number of deaths attributed to smoking for women was the 75-<80 years old age group, followed by the 70-<75 and 80-<85 years old age groups. The age group with the highest proportion of deaths attributed to smoking for men was the 55-<60 years old age group. In addition, smoking accounts for more than 60% of deaths in the 60-<65, 45-<50, 55-<60, and 65-<70 years old age groups. In 2019, the loss of life expectancy attributed to smoking deaths among all residents in Tianjin was 1.13 years, with a loss of 1.15 years for males and 0.57 years for females. The expected life expectancy excluding deaths caused by smoking was 82.92 years, 80.77 years for males and 84.61 years for females. Conclusions:Smoking remains one of the important risk factors for death among residents. Promoting effective measures to reduce smoking rates is an effective way to increase life expectancy.

Objective:Investigating the efficacy of unilateral adrenalectomy in treatment for primary pigmented nodular adrenocortical disease (PPNAD).Methods:Clinical data of 26 patients with PPNAD treated in our hospital from January 2013 to June 2023 was retrospectively analyzed.There were 11 males and 15 females, with an average age of (19.4±4.7) years. 25 cases presented with typical Cushing's syndrome, and 16 cases were diagnosed with Carney's syndrome. PRKAR1A gene mutation detected in 8 out of 10 cases. CT showed multiple small nodules on bilateral adrenal glands in 14 cases, unilateral small nodules or mild thickening with normal contralateral glands in 8 cases, and no obvious abnormalities in 4 cases. All patients showed autonomous oversecretion of cortisol by endocrine laboratory tests, with a median 24 h-UFC of 408.35 (334.28, 800.78) μg/24 h and decreased level of adrenocorticotropic hormone. All 26 patients underwent laparoscopic unilateral adrenalectomy, with left side adrenalectomy in 8 cases and right side adrenalectomy in 18 cases.Results:The average surgical duration was (85.2±28.7) minutes, with intraoperative blood loss <50 ml in all cases. The median time to drainage tube removal post-operation was 3 (2, 3) days. One patient developed a postoperative pulmonary infection, and 3 patients required postoperative hormone replacement therapy. The median follow-up duration was 64 (31.5, 103.8) months, and all patients showed alleviation of Cushing syndrome clinical manifestations after operations. 19 patients (73.1%) had their 24 h-UFC levels normalized to a median of 42.0 (22.4, 58.3) μg/24 h within 8.5 (5, 46) days post-surgery. 7 patients (26.9%) did not achieve normal 24 h-UFC levels, yet experienced an average reduction of (73.2±10.4)%. 13 patients (50.0%) did not experience recurrence, with a median follow-up of 51 (7, 89.5) months, including two cases without recurrence at 10 years post-surgery. 13 patients showed recurrent increase in postoperative cortisol levels, with a median of 225.6 (188.9, 397.2) μg/24 h. The median time to increased 24 h-UFC post-surgery was 27 (13.5, 50.5) months, with the longest duration reaching 104 months. Among these, 9 cases exhibited clinical signs and symptoms of recurrence, while 4 cases did not. Of the 13 patients with recurrence, 9 underwent contralateral adrenalectomy or subtotal resection, while 4 were observed with follow-up.Conclusions:Unilateral adrenalectomy could be a surgical treatment option for PPNAD. Despite the recurrence in some patients postoperatively, unilateral adrenalectomy could effectively and rapidly reduce cortisol levels in PPNAD patients and alleviate the clinical manifestations of Cushing syndrome.

Objective To assess the application effect of Peyton's four-step teaching method in clinical internship training of urology.Methods Ten clinical interns rotated in urology department of Peking Union Medical College Hospital from April 2023 to February 2024 were randomly divided into a study group and a control group with seven in each.The study group used Peyton's four-step teaching method while the control group used classical method.After one month of rotating training,two groups of interns were evaluated by theoretical test and clinical skill assessments,and a survey by questionnaire was performed to evaluate the effectiveness of the training.Results The theoretical scores of the study group and the control group were 93.60±3.05 vs 91.80±2.39 and the clinical skills assessment scores were 92.00±1.87 vs 86.80±3.27,the difference was statistically significant(P＜0.05).In terms of clinical skills,there was a significant improvement in clinical performance.The results of questionnaire survey showed that the Peyton's teaching group is more comfortable by both trainees and trainers,as compared to that of control group.Conclusions The application of the Peyton's four-step teaching method significantly improves operational skills of the trainees.Both the faculty staff and students are satisfied with the Peyton's four-step teaching method,which is suit-able for clinical application in urology internship training.

Objective To evaluate the application effect of the three-dimensions(3D)technology in teaching lapa-roscopic surgical skills in urology.Methods Eighteen clinical interns who rotated in the urology department of Pe-king Union Medical College Hospital from July 2023 to March 2024 were randomly divided into a test group and a control group with 9 in each.The test group received laparoscopic operation skill training using 3D reconstruction and 3D printing technology,while the control group received laparoscopic operation skill training using conventional methods.After one month of rotating training,two groups of interns underwent laparoscopic operation skill assess-ment,and the training outcomes were evaluated using a survey questionnaire.Results The laparoscopic operation skill assessment scores of the test group and the control group were(94.33±2.12)and(88.11±2.39)points,re-spectively(P＜0.01).In terms of clinical skills,the test group showed a significant improvement in skill of clinical performance.According to the feedback from the survey questionnaire,the test group showed satisfaction from trai-nees and trainers as compared to the control group.Conclusions The 3D digital technology in laparoscopic opera-tion skill training can significantly improve the outcomes of laparoscopic operation skill of interns.The satisfaction of the teaching mode is high among both trainers and trainees,so it is a potential and effective teaching method for the training of interns in department of urology.

Objective To evaluate the application of a standardized multi-scenario comprehensive training system for graduate students majoring in urology.Methods A total of 11 professional graduate students majoring in urology at Peking Union Medical College Hospital from January 2023 to December 2023 were selected,and a multi-scenario comprehensive training system was adopted for their clinical training of urology.After the training was completed,graduate students were assessed and teaching outcomes were evaluated using a survey questionnaire.Results The ex-cellent rate of assessment reached 100%.The standardized multi-scenario comprehensive training system had signifi-cantly improved the theoretical and practical performance of graduate students.The feedback from the survey ques-tionnaire showed that the satisfaction from both graduates and teachers was extremely high.Conclusions Applying a standardized multi scenario comprehensive training system to clinical teaching practice in urology can significantly improve the clinical comprehensive capacity of urology professional graduate students.Both the trainers and trainees have high satisfaction with that training system,which is suitable for application and promotion.

Objective:To investigate the predictive effect of adjusted Utrecht staging criteria on efficacy of mammalian target of rapamycin (mTOR) inhibitors in patients with tuberous sclerosis-associated renal angiomyolipoma (TSC-AML).Methods:In this study, 39 adult patients with TSC-AML who attended the Peking Union Medical College Hospital from December, 2014 to December, 2020 were retrospectively analyzed, and were divided into 4 groups based on Utrecht staging criteria: Group 1, Utrecht staging ≤ stage 5, all AMLs <5 cm( n=6); Group 2, stage 6 with at least one AML ≥5 cm and normal renal anatomy( n=14); Group 3, stage 6 with at least one AML ≥5 cm and recognizable renal anatomy( n=10); Group 4, stage with at least one AML ≥5 cm and unrecognizable renal anatomy ( n=9). The mean age of patients in the 4 groups were 27.33±7.84, 28.64±12.36, 31.10±5.88 and 29.11±7.15 ( P=0.869). No statistic difference in gender was found among the different groups ( P=0.233). The mean maximum diameters of AML in the four groups were (3.54±0.52)cm, (8.11±2.08)cm, (11.58±4.60)cm and (17.08±3.61)cm, respectively( P<0.01). The mean levels of creatinine were (80.17±16.01)μmol/L, (76.36±18.72)μmol/L, (76.10±27.61)μmol/L and (71.89±18.66)μmol/L in the four groups( P=0.900). The numbers of patients with positive urine protein were 2, 3, 8 and 2 ( P=0.023). All the patients took Everolimus 10mg orally per day for at least 3 months. Differences in maximum AML shrinkage rate, creatinine level, severity of urine protein and microscopic hematuria were compared between the groups. Results:As AML severity increased, the shrinkage rates decreased significantly in turn [Group 1: (76.06±13.16)%, Group 2: (64.92±16.33)%, Group 3: (55.30±20.49)%, Group 4: (43.73±20.61)%, P=0.009]. After treatment, creatinine levels increased in all groups[Group 1: (8.50±7.61)μmol/L, Group 2: (5.71±8.54)μmol/L, Group 3: (7.70±7.18)μmol/L, Group 4: (6.11±7.04)μmol/L], but there was no significant difference among groups (P=0.856). Moreover the increase in urine protein worsened with the degree of severity (Group 1∶3, Group 2∶4, Group 3∶6, Group 4∶9, P=0.014). Conclusions:The adjusted Utrecht staging criteria could predict the maximum AML shrinkage rate and urine protein increase in TSC-AML patients with treatment of mTOR inhibitors.