Objective To analyze the clinical and genetic characteristics of 10 Chinese patients with 17? hydroxylase/17,20 lyase deficiency (17OHD). Methods Clinical features and laboratory data were collected from 7 kindreds with 17OHD. PCR products and subclone sequencing were performed to screen the mutation of CYP17A1 gene. Results All patients had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. The laboratory examinations indicated decreased plasma cortisol, 17-hydroxy progesterone, estradiol and testosterone, and elevated blood adrenocorticotrophic hormone(ACTH), follcie-stimulating hormone(FSH) and luteinizing hormone(LH). CT scan showed bilateral adrenal hyperplasia. 5 CYP17A1 mutations were identified, 4 of which are novel types D487_F489del, the most frequent mutation, was identified in 4 families and 45% alleles. Conclusion Our study indicates that 17OHD should be considered in the diagnosis of patients with sexual infantilism. D487_F489del is the most frequent mutation in Chinese 17OHD patients.

Objective To study the sero-epidemiological starus regarding Rickettsia (R.) typhi,Bartonella (B.) henselae and Orientia (O.) tsutsugamushi in farmers from rural areas of Tianjin.Methods Field epidemiological surveys were performed in 8 districts (county) of Tianjin city from 2007 to 2009.886 farmers were randomly recruited and their serum samples collected to detect the specific antibodies of R.typhi,B.henselae and O.tsutsugamushi by micro-indirect immunoflorescence (IFA).Results The total antibody positive rates of R.typhi increased from 5.0% to 58.2% while B.heaselae had an increase from 2.6% to 14.5% and O.tsutsugamushi increased from 1.8% to 39.8%.Geographic distribution showed that farmers living in the central and southeast areas were higher than that in other areas.Conclusion Infections of both R.typhi,B.henselae and O.tsutsugamushi in farmers from Tianjin areas were popular and the antibody positive rates ofR.typhi,B.henselae and O.tsutsugamushi had an annual increase.

OBJECTIVETo clarify three-grade criteria of curative resection for primary liver cancer (PLC) and evaluate their clinical significance.

METHODSCriteria of curative resection of PLC were summed up to three grades. Grade I: complete removal of all gross tumors with no residual tumor at the excision margin. Grade II: on the basis of Grade I, there was no extrahepatic metastasis, no hilar lymph node metastasis, no tumor thrombus in the main trunks and their primary tributaries of the portal vein, common hepatic duct, hepatic vein and vena cava inferior, and the tumor was not more than two in number. Grade III: in addition to the above criteria, AFP dropped to normal level (in patients with elevated AFP before surgery) within 2 months after operation, and no residual tumor upon diagnostic imaging. A total of 354 cases with PLC who had their liver resected was reviewed. Patients in each grade were divided into two portions depending on whether the treatment was curative or palliative.

RESULTSThe survival of patients receiving curative treatment was better than those receiving palliative treatment (P < 0.01). This was true for patients whose treatment belonged to anyone of the three-grade criteria. The survival was improved along with the promotion of curative criteria used. The 5-year survival rate of Grade I, II and III patients undergone curative resection was 43.2%, 51.2% and 64.4%, respectively (P < 0.01).

CONCLUSION1. The three-grade criteria may be used for judging the radicality of tumor resection for PLC. 2. The more stringent the criteria used, the better the survival would be. 3. Adopting high-grade criteria to select cases, to guide operation and postoperative follow-up would improve the results of liver resection for PLC.

Female ; Hepatectomy ; methods ; Humans ; Liver Neoplasms ; mortality ; surgery ; Male ; Middle Aged ; Survival Rate

OBJECTIVETo assess the metastatic frequency in different groups of lymph nodes and its influencing factors of the thoracic esophageal squamous cell carcinoma (ESCC) in order to determine the extent of lymphadenectomy during esophagectomy.

METHODSThe clinical data of 730 patients with ESCC who underwent esophagectomy and lymphadenectomy were analyzed retrospectively.

RESULTSOf 730 patients, 166 had metastasis to the para-esophageal lymph nodes (22.7%), 90 to the left gastric artery lymph nodes (12.3%), 67 to the lymph nodes around gastric cardia, and 15 to the subcrinal lymph nodes (2.1%). Univariate analysis showed that metastasis to the subcrinal lymph node was positively correlated with the length and differentiation of tumor (P < 0.05), but it was not correlated with any the above parameters when analyzed by multivariate analysis. The metastasis to the para-esophageal lymph node was positively correlated with the length, invasion depth and differentiation of tumor by univariate and multivariate analysis (P < 0.05). The metastasis to the lymph nodes around gastric cardia and metastasis to left gastric artery lymph nodes were positively correlated with the position and invasion depth of tumor by univariate and multivariate analysis (P < 0.05).

CONCLUSIONLymph nodes of the para-esophagus, gastric cardia and left gastric artery usually have high frequency to harber mestastasis, therefore, it was suggested that the lymph nodes in these groups should be dissected during esophagectormy with two-field lymphadenectomy for thoracic esophageal squamous cell carcinoma. Whereas for those patients with the lesion < 3 cm in length or with tumor invasion confined within the esophageal wall or with a lesion located at the upper or lower third of the thoracic esophagus, the subcrinal lymph nodes may not be necessarily dissected.

Adult ; Aged ; Carcinoma, Squamous Cell ; pathology ; surgery ; Cardia ; Esophageal Neoplasms ; pathology ; surgery ; Esophagectomy ; methods ; Esophagus ; Female ; Humans ; Lymph Node Excision ; methods ; Lymph Nodes ; pathology ; surgery ; Lymphatic Metastasis ; Male ; Middle Aged ; Multivariate Analysis ; Neoplasm Invasiveness ; Neoplasm Staging ; Retrospective Studies

OBJECTIVETo compare the treatment outcomes, complications and histopathologic features between conventional parotidectomy and functional regional parotidectomy in the treatment for pleomorphic adenoma of parotid gland and to provide clinical, and pathological evidence for determining the safe surgical margin.

METHODSOf 109 patients, 60 patients received conventional parotidectomy and 49 patients received functional regional parotidectomy. The rates of tumor recurrence and complications were compared between the groups of patients.

RESULTSThere was no significant difference in the incidence of tumor recurrence, the facial paralysis and sialosyrinx between two groups. The rates of Frey's syndrome, numbness of auricular region, and facial asymmetry were 30.0%, 61.7%, and 38.3% in the patients with conventional parotidectomy respectively, while the rates were 6.1%, 30.6%, and 8.2% in the patients with functional regional parotidectomy, with significant statistically difference, respectively (P < 0.05). Of 109 patients, 33 with incomplete capsule, 29 with capsule penetration, 25 with pseudopodia, and 13 with satellite nodules. There was no significant difference in the depth of tumor infiltration between two groups of patients. For the tumor smaller than 2 cm, the depth of infiltration in conventional group was from 0.061 to 1.122 mm, functional group was from 0.442 to 3.127 mm (Z = -1.093, P = 0.057); for the tumors between 2 - 4 cm, the depth in conventional group was from 0.081 to 7.908 mm, functional group was from 0.082 to 6.632 mm (Z = -0.214, P = 0.831); for the tumor larger than 4 cm, the depth of infiltration was from 0.340 to 8.476 mm.

CONCLUSIONSCompared with conventional parotidectomy, functional regional parotidectomy has good outcomes and less complications. The surgical margins of pleomorphic adenomas of the parotid gland should be determined by the size of tumor. The 1 cm-surgical margins are safe for the tumors less than 4 cm, and the tumors more than 4 cm should be treated with superficial parotidectomy.

Adenoma, Pleomorphic ; pathology ; surgery ; Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Parotid Neoplasms ; pathology ; surgery ; Retrospective Studies ; Treatment Outcome ; Young Adult

OBJECTIVETo introduce and evaluate the clinical effects of percutaneous reduction and Kirschner pin fixation for the treatment of intraarticular fractures of the calcaneus in children.

METHODSFrom March 2001 to February 2009,12 patients with intraarticular calcaneal fractures were treated by percutaneous reduction and Kirschner pin fixation (13 feet). There were 8 males and 4 females,ranging in age from 3 to 14,with an average of 8.7 years. According to Essex-Lopresti classification, among 5 feet were tongue fractures and 8 feet were compressed fractures. According to Sanders classification, 9 feet were type II and 4 feet were type III. The Biihler angle and Gissane angle of the calcaneus were obtained before and after operation. All patients were evaluated according to Maryland Foot Score.

RESULTSAll the patients were followed up for 16-71 months (means 35.9 months),and all the incisions were healed without complications and infection. The preoperative X-ray film showed that Böhler angle was (19.7+/-5.3) degrees, Gissane angle was (137.3+/-7.5) degrees. The postoperative X-ray film demonstrated that Böhler angle was (32.6+/-3.7) degrees, Gissane angle was (125.4+/-2.9) degrees. There was a significant difference between preoperative and postoperative (P<0.01). The average Maryland score was 96.3+/-2.4 (range, 92 to 100 points).

CONCLUSIONPercutaneous reduction and Kirschner pin fixation is an effective minimally invasive way to treat intraarticular fractures of the calcaneus in children, it has many advantages such as minimal invasion, reliable fixation and satisfactory effects.

Adolescent ; Bone Nails ; Calcaneus ; injuries ; surgery ; Child ; Child, Preschool ; Female ; Fracture Fixation, Internal ; methods ; Humans ; Intra-Articular Fractures ; surgery ; Male

OBJECTIVETo study the clinical effects of AO distal humerus plate (DHP) for the treatment of distal humeral fractures in elderly osteoporotic patients.

METHODSFrom September 2008 to January 2010, 18 elderly osteoporotic patients with distal humeral fractures were treated with open reduction and internal fixation with DHP. There were 3 males and 15 females, ranging in age from 62 to 83 years (averaged, 71.4 years). According to AO classification, 1 patient was Type A2, 3 patients were Type A3; 2 patients were Type B1, 2 patients were Type B2; 3 patients were Type C1, 4 patients were Type C2, 3 patients were Type C3. The surgical approaches were either bilateral or via olecranon process of ulna. Early mobilization was initiated after surgery. Functional results were evaluated according to the Mayo elbow performance score (MEPS).

RESULTSThe average duration of follow-up was 14.6 months (ranged from 11 to 24 months). All the patients had a complete healing of their fractures. There was no infection, hardware failure or loss of reduction after the operations. The average Mayo elbow performance score (MEPS) was (92.2 +/- 9.6) (65 to 100 points), among which the score of pain was (42.5 +/- 5.8) (30 to 45 points), the score of motion range was (19.2 +/- 1.9) (15 to 20 points), the score of stability was (9.2 +/- 1.9) (5 to 10 points), and the score of function was (21.4 +/- 2.9) (15 to 25 points). According to MEPS, 11 patients got excellent results, 5 good and 2 fair.

CONCLUSIONTreatment of distal humeral fractures in elderly osteoporotic patients with AO distal humeral plates can obtain immediate stabilization which facilitates early mobilization of the elbow.

Aged ; Aged, 80 and over ; Bone Plates ; Female ; Fracture Fixation, Internal ; methods ; Humans ; Humeral Fractures ; surgery ; Male ; Middle Aged ; Osteoporotic Fractures ; surgery

BACKGROUNDRecent studies indicate that bone marrow-derived cells may significantly contribute to atherosclerosis, post-angioplasty restenosis and transplantation-associated vasculopathy. The responsible bone marrow (BM) cells and mechanisms regulating the mobilization of these cells are currently unclear. The purpose of this study was to investigate the expression of granulocyte colony-stimulating factor (G-CSF) on injured arteries and its effects on mesenchymal stem cells (MSCs) differentiation into vascular smooth muscle cells (VSMCs) in the process of vascular remodeling.

METHODSBalloon-mediated vascular injury was established in female rats (n = 100) which received radioprotective whole female BM cells by tail vein injection and male MSCs through a tibial BM injection after lethal irradiation. The injured and contralateral carotid arteries were harvested at 3, 7, 14 and 28 days after treatment.

RESULTSMorphometric analysis indicated that intima to media area-ratio (I/M ratio) significantly increased at 28 days, 0.899 ± 0.057 (P < 0.01), compared with uninjured arteries. Combining fluorescence in situ hybridization (FISH) and immunohistochemical analysis showed that a significant number of the neointimal cells derived from MSCs, (45.2 ± 8.5)% at 28 days (P = 0.01), compared with (23.5 ± 6.3)% at 14 days. G-CSF was induced in carotid arteries subject to balloon angioplasty (fold mRNA change = 8.67 ± 0.63 at three days, relative G-CSF protein = 0.657 ± 0.011 at three days, P < 0.01, respectively, compared with uninjured arteries). G-CSF was chemotactic for MSCs but did not affect the differentiation of MSCs into smooth-muscle-like cells.

CONCLUSIONIncreased expression of G-CSF by injured arteries plays an essential role in contribution to recruitment and homing of MSCs to the site of the arterial lesion.

Angioplasty, Balloon ; Animals ; Blotting, Western ; Carotid Arteries ; surgery ; Cell Differentiation ; Cell Movement ; Cells, Cultured ; Enzyme-Linked Immunosorbent Assay ; Female ; Granulocyte Colony-Stimulating Factor ; metabolism ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Male ; Mesenchymal Stromal Cells ; cytology ; Myocytes, Smooth Muscle ; cytology ; Neointima ; surgery ; therapy ; Rats ; Rats, Sprague-Dawley ; Reverse Transcriptase Polymerase Chain Reaction ; Vascular System Injuries ; surgery ; therapy

Objective To explore the relationship between apoptosis promoting effector molecules caspase-3,caspase-9 and lubar intcrvertebral disc protrusion.Methods 99 of operation patients with lubar intervertebral disc protrusion in their mater nity ward were recruited.Among them,single segment of lubar intervertehral disc protrusion were 70 (Group A),more than one segments of lubar intervertebral disc protrusion were 29(Group B).In addition,40 unrelated healthy people from physi cal examination center were enrolled as controls.Enzyme linked immunosorbent assay (ELISA) was used to examine serum caspase-3 and caspase-9 levels in lubar intervertebral disc protrusion patients.Results The level of caspase-3 in control group,group A and group B,respectively were 11.24±0.41,14.31±0.67 and 17.43±1.86 pmol/L.The caspase-3 activity in each group was statistically significant difference (F=8.47,P＜0.01).The level of caspase-9 in control group,group A and group B respectively were 18.54±2.19,30.57±3.63 and 43.68±5.15 pmol/L.The caspase-9 activity in each group was statistically significant difference (F=7.85,P=0.001).Compared with control group,the caspasc 3 and caspase-9 ac tivity in group A (q=3.08.3.29,all P＜0.05),group B (q=5.78,4.50,all P=0.014) was statistically significant differ ence.The caspase-3 and caspase-9 activity in group A,group B was statistically significant difference (q=3.21,3.22,all P＜0.05).Conclusion The augment of caspase-3 and caspase-9 promoted apoptosis of lubar intervertebral disc protrusion.It was connected with quantity of protrusive segments.The more segments of protrusion,the higher caspase-3 and caspase-9 levels of examination would be.

OBJECTIVE: To explore the value of transthoracic echocardiography (TTE) in transcatheter closure of atrial septal aneurysm (ASA) combined with secoundum-type atrial septal defect (ASD). METHODS: Fourteen patients (3 males and 11 females) who had ASA combined with secoundum-type ASD were diagnosed by TTE or transesophageal echocardiography. The ASA projected to the right atrium in all patients. The width of basilar part was 13 approximately 24 (18.5+/-3.9) mm, and the vertical extent was 7 approximately 11(9.7+/-1.8) mm. Ten patients combined with single hole ASD and 4 patients with multiple hole ASD. Blood shifting from the left atrium to the right atrium was displayed in color Doppler in all patients. All patients were treated by transcatheter closure under the guiding of X fluoroscopy and TTE, and examined with TTE during the follow-up. RESULTS: Transcatheter closure was successfully performed by 14 occluders in all patients. No residual shunt was detected immediately by TTE after the procedure in all patients. During the 6 approximately 12 month follow-up, no residual shunt or occluder shifting was found, the dimensions of the heart became normal in 11 patients (79%) and were significantly decreased in 4. CONCLUSION Transcatheter closure is feasible in patients with ASA combined with secoundum-type ASD, and extra attention must be paid to the specialty. TTE is very important in case selection before transcatheter closure, and it may be used to monitor and guide the procedure during transcatheter closure.
Adult ; Atrial Septum ; Balloon Occlusion ; methods ; Cardiac Catheterization ; Echocardiography ; Female ; Heart Aneurysm ; complications ; therapy ; Heart Septal Defects, Atrial ; complications ; therapy ; Humans ; Male ; Middle Aged ; Ultrasonography, Interventional ; Young Adult