Objective To report a case of multiple endocrine neoplasia type 2B (MEN 2B) combined with analogous Marfan's syndrome with the related literature review,in order to improve the knowledge of this disease.Methods A case of MEN 2B combined with analogous Marfan's syndrome was admitted in Peking Union Medical College Hospital in Nov 2011.The patient was a 21-year-old male with the chief complaint of tongue thick for 13 years,found a tumor in right adrenal gland for 3 months.The patient underwent radical thyroidectomy and lymph node dissection in April 2011 because of thyroid tumor,and postoperative pathology confirmed the diagnosis of medullary thyroid carcinoma(T2N1bM0).The patient had normal blood pressure without fluctuation.Physical examination indicated that the patient had thin limbs,long fingers and long toes.Carpal syndrome and finger syndrome were positive.There were multiple tumor like nodules in the tip of the tongue,lips,inner canthus of eyelids,and laryngoscopy showed multiple nodulars in bilateral vocal cord and bilateral tip splitting.Enhanced CT showed a tumor of 2.9 cm×3.4 cm×3.8 cm in the right adrenal gland.Endocrine examination revealed high catecholamines:norepinephrine 159.3 nmol,epinephrine 13.3 nmol,and DA 918.2 nmol.131I-MIBG was positive for pheochromocytoma.The clinical manifestation was in stationary state.Preoperative diagnosis was MEN 2B,right adrenal pheochromocytoma,medullary thyroid carcinoma (T2N1bM0)after operation,multilple mucosa neurofibroma and analogous Marfan's syndrome.Results The pheochromocytoma in right adrenal gland was removed by laparoscopy under general anesthesia successfully on Dec 12,2011.The postoperative pathology confirmed the diagnosis of pheochromocytoma.And gene mutation was found in exon 16 of RET gene.MEN 2B with analogous Marfan's syndrome was diagnosed.During the follow-up period for 28 months,the patient had normal blood pressure and heart rate without tumor recurrence or metastasis.Conclusions MEN 2B combined with analogous Marfan's syndrome is extremely rare.For patients with medullary thyroid carcinoma,pheochromocytoma should be considered before operation.For patients with analogous Marfan's appearance,Marfan's syndrome should be differentially diagnosed.

Objective To study the clinical factors affecting the prognosis of adrenocortical car-cinoma (ACC) in order to guide the diagnosis and treatment of ACC. Methods The clinical data of 40 cases of ACC were retrospectively analyzed. The patients were diagnosed as ACC by histopatholo-gical examination after operation or biopsy, including 19 cases of nonfunctional ACC and 21 cases of functional ACC. The functional ACC included 14 cases of Cushing's syndrome, 4 cases of sexual ab-normality (3 cases of androphany and one case of male sexual precosity) and 3 cases of primary aldo-steronism. The clinical stage included 3 cases in stage Ⅰ , 10 cases in stage Ⅱ , 7 cases in stage Ⅲ, and 21 cases in stage Ⅳ. Eighteen cases underwent complete excision, 10 cases underwent palliative excision, 12 cases underwent expectant treatment (2 cases underwent arterial embolism). All patients were followed up for 2 to 121 months. The total life span and survival rate were calculated, and the dependability between life span and certain indices (tumor size, function, clinical stage and surgical treatment, etc) was compared. The results were statistically analyzed by utilizing the SPSS 11.5 soft-ware. Rank-sum test was used for the two independent samples, one-factor analysis of variance was used for multiple samples and Pearson correlation analysis was used for the correlation of two vari-ances. Results There were no statistical correlations between gender, age, sides and survival time (P>0.05). The survival time of nonfunctional ACC patients was 37.0 months, of which 11 dead ca-ses survived 11.0 months and 8 survival cases survived 73.5 months. The survival time of functional ACC patients was 11.5 months, of which 19 dead cases survived 12.2 months and 2 survival cases survived 4.8 months. The survival time of nonfunctional ACC was significantly longer than that of functional ACC (P<0. 05). The actual survival time was 66 months and 120 months in stage Ⅰ , of which both survived. The actual survival time was (44.9±40. 2) months in stage Ⅱ, of which 4 sur-vival cases survived 59.0 months. The actual survival time was(34. 5±29.8) months in stage Ⅲ, ofwhich 2 survival cases survived 42.0 months. The actual survival time was (7.1±6.7) months instage Ⅳ, of which 2 survival cases survived 8. 0 months. There was significant difference of the sur-vival time among different clinical stages(F=11. 078, P<0. 05). There was no significant difference of survival time between treatment methods[(10.04±0.0) vs (4.5±1.5) months, P>0. 05]. Con-clusions The most important influencing prognostic factors of ACC are function and clinical stage. For ACC in stage Ⅰ and Ⅱ , tumor resection is the most effective treatment, and second surgical oper-ation is recommended for local recurrence. For ACC in stage Ⅲ, radical or extensive surgical operation is recommended, and for ACC in stage Ⅳ, surgical operation has no effect on the prognosis.

Objective To evaluate the safety and efficacy of adrenal autotransplantation for the treatment of persistent Cushing's disease after transsphenoidal pituitary tumor resection. Methods Four patients were treated by adrenal autotransplantation with attached blood vessels after bilateral adrenalectomy for persistent Cushing's disease from April 1991 to March 2008 in our institute. The four patients were 3 females and 1 male. Their ages ranged from 14 to 36 years, with an average of 30 years. Right adrenalectomy was performed 1 to 3 months before the left adrenalectomy. 30 % ?50 % of the left hyperplastic adrenal was placed in the left inguinal region with the anastomosis of the inferior epigastric artery and the central adrenal vein, and between the left saphenous vein and the incised adrenal envelope with the adrenal middle artery inside. The hormone replacement dosage decreased gradually after operation. They were followed up for 1.0, 1. 5, 8. 0 and 10. 0 years. The patient's symptoms, adrenal hormone (serum cortisol, urinary free cortisol and adrenocorticotroph) levels and the steroid replacement dosages were recorded and analyzed. Results The symptom of the Cushing's disease disappeared completely after operation and there was no Nelson's syndrome except one patient with slight darken skin. Through 4 ways of imaging examination, operation, clinical presentation and endocrine examination, the 4 transplanted adrenals functioned well with less steroid replacement dosage needed after operation. The 4 transplanted adrenal glands functioned steadily 1 year after the auto-transplantation, and no hyperplasia was detected in the transplanted adrenals with the stimulus of high dosage adrenocorticotroph. Conclusions The long-term effects of adrenal autotransplantation with attached blood vessels after bilateral adrenalectomy is effective and safe. Adrenal autotransplantation can be a feasible option for the treatment of persistent Cushing's disease.

Erythropoietin (EPO) is an active glycoprotein synthesized by kidney. The physiological function of regulat?ing the synthesis of erythrocytes by EPO makes it as a clinical drug for treatment of anemia resulted from chronic kidney fail?ure. However, its short biological half-life makes frequent administration, which limits its wide clinical utility since the tough burden and pain on patients. Therefore, the development of EPO derivatives with good efficacy, less adverse reaction and long duration has been a hot spot in the field during several decades. There are currently many different variants of EPO derivatives including erythropoiesis stimulating agents (ESAs) on the market. This article aims to summarize the recent re?search progress in the development of erythropoietin derivatives, specially focusing on EPO mimetic peptides (EMP).

Objective To study the classification and treatment of juxtaglomerular cell tumor of the kidney. Methods Five cases of juxtaglomerular cell tumors of the kidney were diagnosed and treated surgically in our hospital during the last 4 years. Seven large series of cases report of juxtaglomerular cell tumors have been published in the Pubmed. These series of cases report plus 1 case report of static juxtaglomerular cell tumor were incorporated into a review of 71 cases previously published in English literature. The clinical presentation, laboratory examination and imaging study were summarized. The clinical presentation including blood pressure, the laboratory examinations including kalium, plasma renin activity and aldosterone, and renal venous sampling for renin assay, and the imaging study including ultrasonography, CT, excretory urography, and selective renal angiography were studied retrospectively. Results The 71 cases juxtaglomerular cell tumors could be classified into 3 types, that is, typical type, atypical type and static type. The 57 typical cases had the typical characteristics of hypertension, hyperaldosteronism, and hypokalemia secondary to tumor renin secretion.The 12 atypical cases had hypertension with normal kalium, and the 2 static cases had normal blood pressure and kalium. Typical juxtaglomerular cell tumor of the kidney should be considered in hypertensive patients with secondary aldosteronism. Atypical juxtaglomerular cell tumor of the kidney should be considered in patients with hypertension and renal tumor. Static juxtaglomerular cell tumor of the kidney should be considered in patients with benign renal tumor. Conclusions The classification of typical, atypical and static juxtaglomerular cell tumors depends on blood pressure and serum kalium. As a surgically corrected disease, juxtaglomerular cell tumor of the kidney should be considered in patients with benign renal tumor, and nephron-sparing surgery is the first choice.

Objective To study a modified method of laparoscopic partial nephrectomy with hypothermic renal artery perfusion in situ.Methods Laparoscopic partial nephrectomy with hypothermic renal artery perfusion in situ was performed in 5 patients from March 2009 to May 2009.There were 3 males and 2 females,with an average age of 49 years (39 to 63 years).There were 3 tumors in the left kidney and 2 in the right kidney,with an average diameter of 5.6 cm (range,3.8 to 7.0 cm).There were 2 cases of chronic renal insufficiency,1 case of solitary kidney,1 case of contralateral renal atrophy and 1 case of larger benign tumor.The procedure of laparoscopic partial nephrectomy with hypothermic renal artery perfusion in situ was as follows:A catheter with balloon was placed in the renal artery with percutaneous approach through the femoral artery preoperatively.During the operation the balloon of the catheter was inflated with water in order to block the renal artery,and renal artery perfusion of about 200ml saline of 4 ℃ was conducted through the catheter under high pressure in order to achieve low temperature in situ kidney.The water of the balloon was extracted after the accomplishment of the laparoscopic partial nephrectomy.Results Laparoscopic partial nephrectomies with hypothermic renal artery perfusion in situ were carried out successfully in 5 cases.The average operative time was 102 min (80 to 120 min),the average renal artery occlusion time was 35 min (range,29 to 39 min),and the average amount of bleeding was 190 ml(50 to 300 ml).The temperature of skin,kidneys,and tumor after hypothermic perfusion dropped by an average of 0.6℃,10.0 ℃,and 9.8℃,respectively.The endogenous creatinine clearance rate was(84.7±16.9),(48.9±14.5),(52.1±12.4),(54.5±13.8),and(54.6±11.7)ml/min before and 1 day,3 days,5 days and 10 days after operation.There was significant difference among the 5 groups in endogenous creatinine clearance rate(P=0.001).There was significant difference between each 2 groups except that between the group at 5 days and 10 days after operaton,The endogenous creatinine clearance rate kept steady in 5 days after operation.Conclusions Laparoscopic partial nephrectomy with hypothermic renal artery perfusion in situ is feasible and safe in favor of the extension of renal ischemic time and the protection of renal function.And it has resolved 2 problems in laparoscopic partial nephrectomy,that is,the laparoscopic artery occlusion and the hypothermic perfusion.

Objective To study the diagnosis and surgical treatment of adrenal cavernous hemangi -oma. Methods The data of one case with adrenal cavernous hemangioma was retrospectively reviewed .A 62-year-old female patient admitted in out hospital on 18th June, 2013 due to the paroxysmal hypertension for 10 years and finding the left adrenal mass for 2 months.Her highest blood pressure was 175/55 mmHg and the response for the drug treatment was poor .In recent 6 months, her blood pressure was unstable .Ab-dominal ultrasound showed a hypoechoic mass in left adrenal .Enhanced CT examination showed an irregular mass in the left adrenal gland , with the size of 4.5 cm ×2.5 cm ×3.9 cm,peripherally enhanced in arterial phase , contrast agent filling in portal venous phase , and high density in delay phase .Abdominal MR exami-nation showed a mass before abdominal aortic , with clear and smooth edge .The mass showed low signal in T1WI phase and high signal in T 2WI phase, which was considered as pheochromocytoma .24h urinary cate-cholamines showed that norepinephrine was 103.0 nmol, epinephrine was 9.8 nmol and dopamine was 18.9 nmol.Octreotide (99Tcm-TOC) showed slight high expression of somatostatin receptor .Preoperative diagnosis was left pheochromocytoma . Results After the preoperative medical preparation of phenoxybenzamine for 3 weeks, her blood pressure was maintained at 120-132/50-70 mmHg, with stuffy nose, warm hand and foot, and the weight gain of about 1 kg.The patient was undergone laparoscopic resection of left adrenal tumor under general anesthesia on June 24, 2013.The postoperative blood pressure returned to normal .And the left adrenal pathology was cavernous hemangioma .Following up for 5 months, the patient had normal blood pressure without the tumor recurrence . Conclusions The adrenal cavernous hemangioma is extreme-ly rare with high rate of misdiagnosis .For adrenal tumor with typical hemangioma imaging , the diagnosis of cavernous hemangioma should be considered .For tumors larger than 6 cm, surgery is recommended .The first choice of operative approach is laparoscopic resection of adrenal tumor , and normal adrenal tissue should be retained as far as possible.

Objective To study the application of proteomics in detecting differentially expressed proteins in renal clear cell carcinoma (RCCC) patient's urine in order to improve the diagnosis rate of RCCC.Methods From Mar.2010 to May.2010,the urine samples of 11 RCCC cases were collected,including 10 males and 1 female with average age of 63 (46-78) years.All patients were finally diagnosed as RCCC by post-operative or biopsy pathology.The normal control urine samples were collected from 10 males with average age of 29 (25-32) years.WCX beads combined with matrix assisted laser desorption ionization time of flighl mass spectrometry (MALDI-TOF MS) technique was applied in detecting differentially expressed proteins in RCCC patient's urine to find out differentially expressed proteins.And genetic algorithm was utilized to establish a diagnosis model.Results 160 differentially expressed proteins in RCCC patient 's urine were detected,and 1 was in significant difference,P=0.0304.ClinProTools 2.2 software was utilized with genetic algorithm to find out 13 differentially expressed proteins to establish a diagnosis model,and the sensitivity and specificity rate was 100％ after cross validation.Conclusions The diagnosis model established by genetic algorithms has high sensitivity and specificity rate,and can improve the diagnosis of RCCC.

Objective To propose SHA.LIN nephrolithometry scoring system for assessing and predicting the stone-free rate of percutaneous nephrolithotomy ( PCNL) and to investigate the clinical value of SHA.LIN scoring system for nephrolithiasis in patients undergoing PCNL .Methods A literature review from 1976 to 2014 was performed to identify clinically relevant and reproducible variables that could affect the outcomes of PCNL. Six reproducible variables available from preoperative noncontrast-enhanced computed tomography were measured , including stone size ( S) , hydronephrosis ( H) , anatomic distribution (A), length of tract(L), indicator of CT(I), number of involved calices(N) and was named as SHA.LIN nephrolithometry scoring system .A retrospective analysis was conducted of clinical data of 116 patients with nephrolithiasis undergoing PCNL from June 2011 to March 2015. The general conditions , preoperative information , stone characteristics and perioperative variables were collected . The correlation of nephrolithometry scores based on SHA.LIN scoring system with stone-free status, operation time, blood loss, length of hospital stay and postoperative complications were analyzed . Receiver operating characteristic ( ROC) curves was drawn to detect sensitivity and specificity of SHA .LIN score in predicting the stone-free rates of PCNL.Results The SHA.LIN score was 9.13 ±2.24 in this cohort.The stone free rate was 75.9%(88/116).Postoperative complications occurred in 32 (27.6%) cases.In those patients with stone
free, the SHA.LIN score was 8.27 ±1.62, significantly lower than that in those patients with residual stones 11.86 ±1.72 ( t =-10.069, P=0.000) .The SHA.LIN score showed significant correlation with the postoperative stone free status, operation time, estimated blood loss (P<0.01).But, it did not correlate with postoperative complications and length of hospital stay (P>0.05).The area under curve of ROC curves for the SHA.LIN scoring system was 0.923 ( 95%CI 0.870 -0.975 ) . Conclusions The SHA.LIN nephrolithometry scoring system can predict postoperative stone-free status of PCNL and can be used for disease related assessment.Further research is required to evaluate its performance in predicting peri-operative variables and postoperative complications .

Objective To investigate the imaging manifestations of os odontoideum and to improve the level of diagnosis and treatment of this disease.Methods Imaging data of 22 patients with os odontoideum were analyzed retrospectively.Results Os odontoideum was divided into round,oval,conical and irregular shapes,with intact cortex and hypertrophy of anterior arch of atlas.Two cases of orthotopic and 20 cases of dystopic os odontoideum were included.There was no displacement of the base of the odontoid process in 7 cases,with anterior displacement in 6 cases and posterior displacement in 9 cases.A widening of anterior atlanto-axial joint space with varying degrees was observed in 14 cases.Thickening of the soft tissue posterior to the odontoid process was showed in 18 cases,spinal canal stenosis in 21 cases,spinal cord degeneration in 11 cases and craniocervical junction malformation in 9 cases.Conclusion Os odontoideum is a well-corticated bone mass,with other related changes,such as hypertrophy of anterior arch of atlas,small posterior arch of atlas,atlantoaxial instablity, spinal stenosis and so on.The imaging features can provide important reference for clinical diagnosis and treatment.