Objective To review the diagnosis and surgical therapeutic methods of adrenocorti-cal hyperplasia disease. Methods One hundred and eighty adrenocortical hyperplasia patients (74 males and 106 females with a mean age of 40 years) were retrospectively analyzed. The patients were divided into hypereortisolism (n=152) and aldosteronism (n=28) according to secretion. Data of clinical characteristic, endocrine and image examination were collected. All patients were treated by operation. Results Of these patients, 107 had Cushing disease (CD), 28 had adrenocorticotropin independent macronodular adrenal hyperplasia (AIMAH), 19 had ectopic adrenocorticotropin adrenal hyperplasia (EAAH), 4 had primary pigmented nodular adrenocortical hyperplasia (PPNAH), 28 had DOI: 10.3760/cma.j.issn. 1000-6702.2009.05.002idiopathic hyperaldosteronism (IHA). 24 h urinay free cortisol (24hUFC) excretion of CD, AIMAH, EAAH and PPNAH were 95.2-535.7 μg (mean, 287.6 μg), 24.8-808.2 μg (mean, 307.9 μg), 102.5-3127.0 μg (mean, 852.5 μg), 243.8-1124.6 μg (mean. 564.3 μg). The proportion loss of the serum cortisol circadian rhythm were 99% (102/103), 92% (11/12), 100% (17/17), 100% (4/ 4), respectively. Low- and high-dose dexamethasone suppression tests (DDST) failed to suppress cor-tisol secretion in AIMAH, PPNAH and EAAH groups, but HDDST was suppressed in CD group. Of the 28 IHA cases, 17 had hypokalemia and 15 had high urine kalium (>30 mmol/24 h). The results of plasma renin activity and serum aldosterone accorded with the diagnosis. Unilateral adrenalectomy were operated in 102 hypercortisolism cases, and 24hUFC of CD, AIMAH, EAAH and PPNAH were 56.2-233.5 μg (mean, 157.4 μg), 22.5-418.5 μg (mean, 117.9 μg), 116.5-1137.0 μg (mean, 756.7 μg), 124.6-422.6 μg (mean, 164.3 μg) 1 week after operation. The blood pressure was nor-mal in 8 paitents and droped in 13 patients for IHA after unilateral adrenalectomy. 24hUFC were nor-mal in 55 patients after bilateral adrenalectomy for hypercortisolism. One hundred and six patients were followed up for 4-158 months, the Cushing syndrome ameliorated and blood pressure dropped. Conclusions Unilateral adrenalectomy is the first choice for adrenocortical hyperplasia disease which needs operation. The operation mode of the contralateral adrenal gland is based on the hyperplasia types and clinical observation.

Cushing syndrome (CS) is a series of clinical symptoms and signs caused by long-term exposure to abnormally high levels of glucocorticoids.It is divided into two types of adrenocorticotropic hormone(ACTH) dependent and ACTH-independent CS.There are great differences in the target gland treatment of different causes of the disease, but the basic principle is to make a clear diagnosis.It is very important to treat primary lesions for ACTH-dependent CS.The adrenal gland will be resected when the treatment of primary lesions is not satisfied or the diagnosis is not clear.Adrenal sparing surgery is recommended for the definitive diagnosis adenomas of CS or subclinical CS.There is a lot of controversy about the treatment of ACTH-independent adrenal gland hyperplasia and primary pigmented nodular adrenal gland, and the individualized treatment scheme has been recognized.

Objective: To investigate the clinical effects of perforating branch flaps of medial vastus muscle in repairing secondary wounds in donor sites of free anterolateral femoral perforator flaps. Methods: From August 2014 to December 2016, 12 patients (8 males and 4 females, aged 35-72 years) with skin and soft tissue defects of extremities associated with tendon and bone exposure were treated in Hanzhong Central Hospital. The sizes of the primary wounds after debridement were 10 cm×8 cm-22 cm×14 cm, and the wounds were repaired with 12 cm×10 cm-24 cm×16 cm free anterolateral femoral perforator flaps. The anterolateral femoral donor sites, which were 8.0 cm×4.0 cm-14.0 cm×7.5 cm in the secondary wounds after skin extensional suture, were repaired with perforating branch flaps of medial vastus muscle in the size of 9.0 cm×5.0 cm-15.0 cm×8.5 cm. The medial femoral donor sites were sutured directly. Results: All the perforating branch flaps of medial vastus muscle and free anterolateral femoral perforator flaps survived in 12 patients. Following up for 6 to 12 months, the medial femoral perforator flaps had good local shape and texture. The flaps of 8 patients without cutaneous nerve transection were sensitive. The sensation of the flaps of the other 4 patients gradually recovered, and the functions of the ipsilateral knee joints were normal. Conclusions The medial femoral perforator flap has a stable anatomy and abundant blood supply, which can be used to repair the secondary wound in the donor site of the free anterolateral femoral perforator flap conveniently. It is safe and easy to be popularized. Moreover, it has a good shape and function after operation.

Objective To study the expression of growth inhibitor gene p33ING1 in bladder transitional cell carcinoma(TCC) and its clinical significance.Methods The expression of p33ING1 was examined in 68 cases(58 men and 10 women) of TCC and 12 cases of normal bladder tissues(controls) by immunohistochemistry method.The mean age of the 68 cases at diagnosis was 65 years.The pathological grading showed grade Ⅰ in 16 cases,Grade Ⅱ in 22 and Grade Ⅲ in 30.The clinical staging showed T_1 in 25 cases,T_2 in 17,T_3 in 14 and T_4 in 12.Of the 68 cases,47 developed relapse.Results The p33ING1 was strongly expressed in all the 12 cases of normal bladder tissues with a positive rate of 100%;whereas the overall positive rate of p33ING1 in the 68 cases of bladder carcinoma was 33.8%(23/68).The positive rates of p33ING1 in grade Ⅰ,Ⅱ and Ⅲ cases of bladder carcinoma were 75.0%(12/16),31.8%(7/22) and 13.3%(4/30),respectively;the differences of positive rates between grade Ⅰ and grade Ⅱ,grade Ⅰ and grade Ⅲ cases was significant(P

Objective To evaluate the application value of elastic index difference (EID) in identifying benign or malignancy masses of breast imaging reporting and data system (BI-RADS) 3-5.Methods Data of 193 lesions in 164 patients with ultrasonic diagnosed as BI-RADS 3-5 breast masses were retrospectively analyzed.All the cases were confirmed pathologically.The EID of masses and normal glands were measured with elastography quantitative analysis software.BIRADS 3-5 breast masses were diagnosed as malignant when EID≥2.5,which was the criteria for BI-RADS reclassification.ROC curve was drawn,and the area under the curve (AUC) was calculated.The diagnostic accuracy and AUC of malignant breast tumors with the methods of BI-RADS and BI-RADS combined with EID were compared.Results Taking pathological results as gold standard,the sensitivity,specificity,accuracy of BI-RADS in detecting malignant tumors were 96.00％ (72/75),67.80％ (80/118),78.76％ (152/193),and those of BI-RADS combined with EID were 97.33％ (73/ 75),83.05％ (98/118),88.60％ (171/193),respectively.The AUC of BI-RADS combined with EID (0.931) was higher than that of BI-RADS (0.875;Z=2.06,P＜0.05).The statistical difference of accuracy was found between BI-RADS and BI-RADS combined with EID methods (x2 =15.21,P＜0.05).Conclusion The combination of BI-RADS and EID is better than simple using BI-RADS in identifying benign or malignancy of breast tumors.

Objective To study the correlation of genotype and phenotype in patients of tuberous sclerosis complex-associated renal angiomyolipomas (TSC-RAML).Methods The clinical and gene mutation data from 39 patients with TSC-RAML diagnosed in Peking Union Medical College Hospital were collected from January 2014 to December 2015.The clinical phenotype and genotype correlation associated with TSC-RAML was analyzed.A total of 39 patients (15 male,24 female) were enrolled,with mean age of 28.4 years (range,13 ～48).Results Five cases showed TSC1 gene mutation,thirty-two patients presented with TSC2 gene mutation and two cases didn't find any mutations.The mutations ratio of TSC1:TSC2 was 1∶6.4.Comparing to those with TSC1 gene mutation and no mutation identified,patients with TSC2 gene mutation had significantly higher frequency with hypomelanotic macules and dental enamel pits.The maximum diameter and clinical stage of patients with TSC2 gene mutation was significantly larger than patients with non-TSC2 gene mutations,along with higher frequency of AML bleeding risk and accepted invasive treatment.Conclusions The patients with TSC2 gene mutations presented higher frequency with hypomelanotic macules and dental enamel pits than those with non-TSC2 gene mutations.Comparing to those with TSC1 gene mutation and no mutation identified,the frequency of AML bleeding risk and loss of renal function was higher in patients with TSC2 gene mutations.Therefore,more active surveillance and treatment should be given to the patients of TSC-RAML with TSC2 gene mutations.

Objective To evaluate the value of targeted second-generation sequencing (NGS) in the genetic diagnosis of tuberous sclerosis complex (TSC) associated with renal complications.Methods The clinical data of 43 patients (with 33 patients of definite diagnosis and 10 patients of possible diagnosis)with tuberous sclerosis complex associated with renal complications were analyzed.There were 26 females and 17 males with a mean age of 28 (10 ～ 48) years ranging from 10 to 48 years old.All patients had renal complications,including 39 renal angiomyolipomas,3 renal cysts and 1 renal cell carcinoma.Written informed consents were signed,and 5ml peripheral blood was drawn for DNA extraction.Mutations of TSC1 and TSC2 genes were detected by the NGS technology,and then confirmed by Sanger sequencing.Results TSC1 or TSC2 pathogenetic mutants were identified in 39 patients (90.7％),which were consistent with clinical phenotypes and two non-significant mutations were identified in two individuals,while no mutation was detected in the other two cases.Fourteen novel mutations were reported for the first time,including 8 frameshift mutation,3 deletion mutation,2 nonsense mutation and 1 splicing mutation.Conclusion NGS is an accurate and less time-consuming technology in detecting TSC1 or TSC2 gene mutation,which has great value in genetic diagnosis of tuberous sclerosis complex associated with renal complications.

Objective To investigate the effect of has-miR-663 on proliferation and apoptosis of human adrenal cortical cell line SW-13.Methods Based on the first stage study,in adrenocorticotropinindependent macronodular adrenal hyperplasia (AIMAH),hsa-miR-663 was up-regulated.The synthetic hsa-miR-663 mimics and inhibitors were transfected the SW-13 cell line.Real-time quantitative PCR (RT-PCR) tested the effect of the transfection.According to the results of RT-PCR,cell line was divided into five groups,including blank group,mimics NC group,inhibitor NC group,mimics group,inhibitor group.Then proliferating of the cell was tested by MTT and the apoptosis by Annexin V-FITC/PI.Result By RT-PCR,mimics group showed that has-miR-663 was over-expressed,and inhibitor group were knocked down.MTTshowed that,compared with NC group and Blank group,SW-13 cell line proliferated faster in mimics group and slower in inhibitor group.Annexin V-FITC/PI showed that apoptosis of SW-13 cell line was not different in all the five groups.Conclusion Up-regulating has-miR-663 could accelerate proliferation of adrenal cortical cells.The microRNA might play some role in the pathogenesis of AIMAH.

Objective To discuss adrenalectomy effects on biochemical and metabolic impairment for patients with subclinical Cushing syndrome (SCS) due to an adrenal incidentaloma (AI) compared with conservative management.Methods Data from 87 patients with SCS due to AI in Peking Union Medical College Hospital between September 2011 and January 2016 were reviewed.Forty-eight patients underwent laparoscopic adrenalectomy (operative group), whereas 39 were managed conservatively (control group).No significant differences were found at baseline between the two groups concerning all the examined parameters, including age [(51.8 ± 10.2) years vs.(53.2 ± 12.1)years], male/female ratio (18/30 vs.20/19), size of adrenal mass [(3.01 ± 0.84) cm vs.(2.99 ± 1.01) cm], body mass index [(27.34 ±3.84) kg/m2 vs.(26.98 ± 3.99) kg/m2], adrenocorticotropic hormone (ACTH) [(2.01 ± 0.40) pmol/L vs.(1.96 ±0.42) pmol/L] and daily urinary free cortisol levels[(75.80 ± 39.71) mg vs.(71.06 ±31.35) mg], responsiveness to 1 mg of dexamethasone, arterial blood pressure, hypertensive patients (77.08％ vs.79.49％), glucometabolic control parameters, diabetic or impaired glucose tolerance patients (35.42％ vs.33.33％), lipid profile, dyslipidemia patients (70.83％ vs.71.79％).Results The duration of follow-up was 9-54 months in operative group, and 5-57 months in control group,respectively.In the operative group, laboratory corticosteroid parameters normalized in all patients but not in the control group.In the operative group, blood pressure of hypertensive patients improved or normalized (22 of 48).On the contrary, in the control group, cure or improvement was not achieved among the patients with hypertension, whereas worse condition was observed in 5 patients (P =0.004).No significant difference was found in glycemic control and blood lipid change between the two groups.However, a decrease in triglyceridaemia and HbA1c was found in operative group compared with the control group (P =0.011 and P =0.017, respectively).Substitutive corticosteroid treatment was administered in 3 patients due to postoperative adrenal insufficiency during hospital stay, and the duration of treatment was 9 weeks, 10 weeks and 12 weeks, respectively.Conclusion Laparoscopic adrenalectomy could be performed for patients with SCS due to AI.

Objective To investigate the clinical characteristics of tuberous sclerosis-associated huge renal angiomyolipoma,and to summarize the experiences of diagnosis and treatment.Methods The clinical data of 9 patients with tuberous sclerosis-associated huge renal angiomyolipoma treated in Peking Union Medical College Hospital from January 2009 to June 2014 was analyzed retrospectively,including 4 males and 5 females.The age at onset and diagnosis of tuberous sclerosis was 0 to 7 years (mean 2.3 years) and 2 to 30 years (mean 19.6 years),respectively,and the diagnosis age of renal angiomyolipoma was 14 to 35 years (mean 25.2 years).In the 9 patients,8 cases had facial angiofibromas,7 cases had hypomelanotic macules,6 cases had ungual fibromas and epilepsy,and 5 cases had family history.All the patients underwent abdominal ultrasound examination,CT scan and serum creatinine testing,and 3 cases received renal dynamic imaging to assess renal lesions and functional status.Results Imaging examinations showed typical renal angiomyolipomas,which were bilateral and multiple lesions with the maximum diameter greater than 10 cm in every patient,and with 2 patients had a history of acute retroperitoneal hemorrhage.The levels of serum creatinine were normal in all patients,and 3 patients had unilateral glomerular filtration rate of 44.4-99.1 ml/min (mean 62.9 ml/min).One patient underwent unilateral partial nephrectomy,2 patients underwent selective renal artery embolization,1 received blood transfusion due to acute bleeding,1 received rapamycin treatment,and 4 patients underwent close follow-up.Conclusions Tuberous sclerosis-associated renal angiomyolipomas are often bilateral and multiple.Increase of the lesion diameter may only enhance the risk of bleeding with small effect on renal function.Therapeutically,close follow-up and mTOR inhibitor are the preferred treatment options,surgery or selective renal arterial embolization is used only for the possible malignancy,acute bleeding or patients with high risk of bleeding.