Purpose To investigate the positive rate and concordance rate of BRAF mutation in papillary thyroid carcinoma detected by real-time PCR method and Sanger sequencing. Methods 312 papillary thyroid carcinomas patients were enrolled in this study. Real-time PCR method and Sanger sequencing were performed to detect BRAF gene mutations. The frequency of BRAF mutation and the concordance of two methods were analyzed. Results BRAF mutation was detected in 65. 4% (204/312) and 63. 8% (199/312) of 312 papillary thyroid carcinoma samples by using real-time PCR method and Sanger sequencing, respectively. There was no significant correlation between BRAF gene mutations and patients’ gender. There was significant correlation between BRAF gene mutations and patients’ age. The overall concordance between real-time PCR method and Sanger sequencing for BRAF mutation detection was 98. 4%. Conclusion Real-time PCR method provides an effective method in BRAF gene mutation detection.

The chemical constituents of Taxus chinensis var. mairei cell cultures were investigated by chromatographic methods, including silica gel column chromatography, Sephadex LH-20 and preparative HPLC. Thirteen compounds were isolated from the 80% ethanol extract of cultured cells and their structures were elucidated by spectral data and physicochemical properties, which were identified as 2α,4α,7β,9α,10β-pentaacetoxy-14β-hydroxytax-11-ene (1), 2α,4α,7β,9α,10β-pentaacetoxytax-11-ene (2), 1β-deoxybaccatin VI (3), 2α-acetoxytaxusin (4), taxuyunnanine C (5), yunnanxane (6), 2α,5α,10β-triacetoxy-14β-propionyloxy-4 (20), 11-taxadiene (7), 2α,5α,10β-triacetoxy-14β-isobutyryloxy-4 (20), 11-taxadiene (8), 2α,5α,10β-triacetoxy-14β-(2'-methyl)butyryloxy-4 (20), 11-taxadiene (9), 13-dehydroxylbaccatin III (10), 13-dehydroxy-10-deacetylbaccatin III (11), paclitaxel (12) and (13) β-sitosterol. Among them, compound 1 is a new compound, and compounds 2, 4, 10 and 11 are isolated from the cell culture of Taxus chinensis var. mairei for the first time.

A retrospective analysis was conducted for male Han patients aged 46 years or above undergoing serum test of total prostate specific antigen (tPSA) at our hospital from 2007 to 2009.Among them,there were 109 patients with complete clinical data (including a history of hypertension and dyslipidemia),including 36 type 2 diabetics and 73 non-diabetics.For type 2 diabetes and non-diabetes groups,the median values (lower quartile,upper quartile) of serum tPSA test results were 1.01 (0.44,3.43) μg/L and 2.26 (1.04,5.48) μg/L (t =-2.65,P ＜0.01) respectively.The serum level of tPSA in type 2 diabetics was significantly lower than that in non-diabetics.

Objective To analyze the clinical characteristics and prognosis of patients with insulin autoimmune syndrome (IAS) and to get better understanding of IAS by literatures reviewing.Methods Nine cases of IAS who were diagnosed in the General Hospital of the People's Liberation Army from 2001 to 2011 were analyzed.Results All patients had hypoglycemic syndrome and episodes of hypoglycemia during both postprandial and fasting states.Most cases (8/9) were accompanied with autoimmune diseases,including 6 cases of Graves' disease treated with methimazole.The biochemical data showed extremely elevated serum insulin level (9/9) during hypoglycemic episode.For most patients,the tests of insulin autoantibodies were positive (7/9) while results of imaging examinations were negative(8/9).After removal of possible offending medications and with diet treatment,hypoglycemic episodes were ameliorated in 5 of 9 cases.For severe patients,acarbose (1/9) and prednisone (3/9)therapy were useful.During the period of follow-up,four cases experienced no episode of hypoglycemia and 3 cases with markedly reduced episodes.Conclusions IAS is characterized by hypoglycemic episodes,elevated blood insulin levels,and positive insulin autoantibodies.It is strongly related with autoimmune disease and is able to be induced by methimazole.Most patients undergo remission after diet treatment,drug withdrawal,and oral prednisone.

Objective To study gender-related differences of clinical characteristics and vascular complications in patients with aldosterone-producing adenoma(APA).Method Consecutive 315 patients with APA confirmed by pathological diagnosis were included and the clinical features and vascular complications were compared based on gender.Results (1) Of the 315 patients with APA,female accounted for 52.7％ (166/315).Male patients with APA presented a higher BMI,compared with females [(25.4± 2.9) vs (24.1 ± 3.2) kg/m2,P＜0.01],and the history of smoking and drinking was more common in male patients.No significant difference was found in regard to the age,duration,hypokalemia,tumor size,and family history of hypertension between two groups (P＞0.05).(2) No significant difference was found in the prevalence of hypertension,duration of hypertension,blood pressure,and antihypertensive medieation between two groups.However,the patients with grade 3 hypertension tended to be more prevalent in males(P =0.08).(3) Serum aldosterone concentrations were similar in two groups,but 24 h urinary aldosterone showed an increased trend in male group (P =0.07).(4) The overall prevalences of cardiovascular (51.0％ vs 36.1％) and cerebrovascular (9.4％ vs 3.0％) complications were significantly higher in male group (P ＜ 0.05).Further analysis of cardiac events revealed significantly higher rates of left ventricular hypertrophy (23.5％ vs 13.9％) and arrhythmia (21.5％ vs 10.8％) in males (P＜0.05).However,no significant difference in the prevalence between two groups was found in regard to cerebral hemorrhage,infarction,and chronic renal insufficiency.(5) The fall of blood pressure and recovery from hypokalemia were comparable between males and females in two weeks after sugery.However,in the patients with persistent hypertension,the number of antihypertensive drugs used in males was greater than that in females and more male patients needed ≥ 2 types of antihypertensive drugs.Conclusion There were significant gender-related differences with regard to clinical features and vascular complications in patients with APA.

A 31-year-old male normotensive patient with aldosterone-producmg adenoma complained of thirst,polydipsia,polyuria,and periodical paraplegia.The diagnosis is raised by signs of hypokalemia.Despite the lack of hypertension,primary aldosteronism was confirmed by persistent hypokalemia,increased urinary potassium,increased urinary and plasma aldosterone levels and suppressed plasma rennin activity (PRA).The blood pressure profile was studied by ambulatory monitoring,and the mean blood pressure of 24h was normal and the circadian rhythm remained normal. Surgical removal of the histologically typical aldosterone-producing adenomas normalized the kalemia.The patient had a marked fall in blood pressure with mean values of 21/17 mm Hg ( diurnal and nocturnal blood pressure were 19/17 and 22/17 mm Hg respectively)and recovery of normal urinary and plasma aldosterone levels and PRA 6 weeks after surgery.This suggests that excess serum aldosterone induced relative hypertension in those patients whose blood pressure was spontaneously very low.Our observations call for primary hyperaldosteronism assay in patients with hypokalemia and renal potassium leakage.

Objective To assess the pituitary function in patients with pituitary adenoma after transsphenoidal ectomy of hypophysoma.Methods Data of 106 patients with pituitary adenoma who were admitted in endocrine department and underwent the operation in PLA General Hospital from January 1993 to January 2010 were collected.Assessments of pituitary function were made before and after surgery.Results Total 23.6％ and 16.0％ of 106 patients underwent pituitary function evaluation by 1 week and 3 months after surgery,respectively.23.5％ and 5.9％ of patients with hyopituitarism before surgery underwent pituitary function evaluation by 1 week and 3 months after surgery respectively,and the respective figures in those without hypopituitarism were 23.6％ and 20.8％.The incidences of new onset of hypopituitarism among 106 patients that underwent surgical procedure were 48.0％ within 1 week after surgery and 35.3％ by 3 months after surgery.Conclusion The rate of re-evaluation of pituitary function by 1 week and 3 months after pituitary surgery was low.Probably,many patients were missed the diagnosis of hypopituitarism after pituitary surgery.

Clinical characteristics,including primary and secondary sexual characteristics,basal endocrine profiles,and imaging results were reviewed.Follow-up data were recorded.16 patients had normal karyotypes,manifest amastia,infantile genitalia,amenorrhea,and delayed epiphyseal fusion at the knee and wrist joints.Serum gonadotropic hormone levels were significantly below normal values.15 patients underwent a gonadotropin-releasing hormone (GnRH) stimulation test and 6 patients had a prolonged GnRH stimulation test.16 patients underwent pituitary or brain magnetic resonance imaging (MRI),which showed small pituitaries in three patients,wing tips of suspicious nodules in 2 patients,an empty sella turcica in 1 patient,and a missing right olfactory bulb and tract in 1 patient.1 patient had no detectable uterus or accessory organs,while the other patients had primordial uteri.1 patient was diagnosed as a case of severe osteoporosis.1 patient suffered from pituitary stalk interruption syndrome.An artificial menstrual cycle due to hormone replacement therapy was not sustained after discontinuation of hormone therapy.As disease severity and the date of initiating hormone replacement varied,the results of treatment were quite different.For patients of reproductive age,it was rare to see a reversal of idiopathic hypogonadotropic hypogonadism after discontinuation of hormone therapy.

Objective To evaluate the efficiency of BIOMED-2 system in detecting IGH gene clonal rearrangement and application in diagnosis of extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT) lymphoma. Methods Forty-five cases were collected, including 36 MALT lymphomas from different organs, 3 extranodal lymphoid tissue proliferative lesions and 6 severe gastritis associated with H pylori. DNA was extracted from the formalin fixed paraffin embedded blocks of these cases and the quality of DNA was assessed using the BIOMED-2 specimen mixed control primers. IGH gene clonal rearrangement was detected using IGH VH-JH primers. The sensitivity and specificity of BIOMED-2 PCR were analyzed.Results Adequate DNA (≥ 300 bp) was obtained in 31 of 45 samples (including 22 MALT lymphomas, 3 lymphoid tissue proliferative lesions and 6 severe gastritis), and the DNA from the other 14 samples was degraded seriously. 16 of 22 MALT lymphomas were positive of IGH clonal rearrangement with the sensitivity of 72.7 ％.In contrast,none of 6 severe gastritis was positive with the specificity of 100 ％ IGH and clonal rearrangement were detected in one of 3 lymphoid tissue proliferative lesions. Conclusion BIOMED-2 assay is an effient and reliable method for diagnosis and differential diagnosis of MALT lymphoma which is important for clinical practical value.

Objective To better understand the clinical management of tumor-induced osteomalacia (TIO) by analyzing the clinical features, diagnosis, treatment, postoperative biochemical changes, and clinical status in 12 cases of TIO. Methods Twelve cases of TIO hospitalized from 2004 to April 2010 were reviewed retrospectively. All cases were diagnosed based on their clinical manifestation, hypophosphatemia, and image study including technetium-99m octreotide scintigraphy (99mTc-Oct). Resuits There were 7 males and 5 females with mean age of (41.8±9.6) years (20 to 56 years). The course of disease was from 2 to 14 years ( median course 4.0 years). They all presented with bone pain, gait disturbance, muscle pain, and muscle weakness. Serum phosphate( Pi)levels were low in 12 cases with a range from 0.30 to 0.56 mmol/L. 99mTc-Oct was performed in 9 cases and it showed that the lesions were located in head of femur, fibula, retrocalcaneal area, foot, humerus,metacarpal, posterior chest wall or near nasal bone (apex partis petrosae ossis temporalis). Subcutaneous soft tissue mass was found in another 3 cases at loin, thigh, and foot by physical examination. The tumors were confirmed by CT, MRI or ultrasonography. Twelve patients underwent operation to remove the tumors and histopathology showed hemangioendothelioma or fibrous angioma (6 cases), giant cell tumor or fibroma of tendon sheath(4 cases), liposarcoma(1case), and phosphaturic mesenchymal tumor(1case). Serum Pi levels returned to normal in 10 patients after resection of tumor. During 2 to 64 months follow up, symptoms of bone pain and muscle weakness were improved obviously. Conclusions Patients with hypophosphatemic osteomalacia should be thoroughly investigated for TIO. 99mTc-Oct and other imaging examinations can effectively locate the tumors. Once the hidden tumor is found and excised, the patient will recover and enjoy normal life with normalized Pi concentrations and marked improvement of symptoms.