Preimplantation genetic diagnosis is the integration of both assisted reproductive technologiesand molecular genetic technologies.Since the birth of the first healthy females after PGD in 1990,re-markable advances have been achieved in this field.Most research in PGD is focused on new methods toimprove the sensitivity and accuracy of single cell analysis.The principal problems in single cell PCR in-clude amplification failure,ADO and contamination.Fluorescent PCR with multiplex amplifications ofhighly polymorphic markers is a highly effective strategy to avoid contamination and detect ADO.The ad-vantages and disadvantages of fluorescence in situ hybridization to detect age-related aneuploidy are stillunder debate.We summarize the most recent developments in this review,and also introduce our own ex-periences in PGD.

Objective To evaluate the right heart function with echocardiography after right ventricle-pulmonary artery (RV-PA) anastomasis for right ventricle outflow (RVOT) reconstruction in patients with different types of pulmonary atresia and ventricle septal defect(PA/VSD).Methods From Nov 2002 to Aug 2013,31 patients with PA/VSD had undergone right ventricle-pulmonary anastomasis to reconstruct RVOT for radical or palliative repair.Related echocardiography indexs including strain/rate etc.were used to evaluate the right heart function and the progress of the right heart valves regurgitation.Results There were 3 early hospital deaths.No later death during follow-up.The echocardiography suggested the pulmonary artery and tricuspid regurgitation were more serious,however,the right heart function was relatively fine.The regurgitation of tricuspid valve was positive correlation with duration of follow-up (P =0.016).Conclusion The right heart function in follow-up keeps relatively well,and tricuspid valve regurgitation needs a long-term follow-up.

Objective To investigate the relationship between the ADAM gene expression and unknown reason infertile patients. Methods With RT-PCR mehtod, we checked from normal group semen 30 cases and infertile group semen 30 cases in order to know the ADAM1,2,3,32 mRNA expression. Results there are the ADAM1,2,3,32 gene expression in all 30 cases of normal group whereas in 30 cases infertile patients there exists 1 case ADAM1,2,32 lacking expression, 1 case ADAM2,32 lacking expression, 1 case ADAM1 and 1 case ADAM3 lacking expression. Conclusions The lacking of ADAM1,2,3,32 may be one of the most reasons which cause the infertility.

Objective To compare the two different ways of right ventricular outflow tract(RVOT) reconstruction at repair of pulmonary atresia with ventricular septal defect,the direct RV-PA anastomosis and pericardial conduit to find the better way.Methods From Jun.2002 to Oct.2012,66 patients underwent pulmonary atresia with ventricular septal defect repair in our hospital,age at operation from 14 days to 272 months.Patients were divided into 2 groups according to the way of RVOT reconstruction.Group 1:31 of them,using direct RV-PA anastomasis,Group 2:35 of them,using pericardial conduit.Paired t test was used to evaluate the growth of pulmonary arteries.Chi-square test and Kaplan-Meier were used to calculate the postoperative mortality,reopemtion situation and survival time.Results There are 3 early hospital death in group 1 (9.7 ％),and 5 in group 2(14.3％),P =0.71.There is a significant difference between the two groups in restenosis rate of the RV-PA anastomasis and autologous pericardial conduit with pulmonary branch artery(Group 1:22.2％,Group 2:55.6％,P =0.01).The diameters of RV-PA anastomasis and the pulmonary artery branches in follow-up were significantly lager than the earlier diameters(P ＜ 0.05) in group 1.There is no growth on diameters of the pericardial conduit and pulmonary branches except the right pulmonary artery in follow-up in group 2.There is no significant difference between the two groups in later survival(P =0.30).Conclusion Both the direct anastomasis of RV-PA and pericardial conduit are available for RVOT reconstruction in pulmonary atresia with ventricular setal defect repair.There is lower incidence of RVOT and pulmonary stenosis and anastomosis absolutely has the ability for later growth in the former.

Objective We reported the rehabilitative nursing points of patients with pectoralis minor muscle transplantation for recovery of thumb oppositional function. Methods We selected 10 patients who underwent pectoralis minor muscle transplantation for recovery of thumb oppositional function and gave them perfect preoperative examination and psychological nursing. We also implemented rigorous monitoring postoperation and auxiliary electric stimulation and functional exercises. The emphasis was put on the exercise of thumb oppositional function. Results The thumb oppositional function of all the ten patients recovered. The myodynamia reached level 4 and the shape of thenar was satisfying after 6 to 12 months of follow-up visit. Conclusions Sufficient preoperative psychological nursing and effective postoperative rehabilitative treatment had pivotal significance for the success of operation and the recovery of thumb oppositional function.

Objective:To sum up the experience of surgical repair for infants with absence of right pulmonary artery(ARPA) in our hospital to improve the treatment of ARPA.Methods:From February 2019 to April 2019, 3 infants with ARPA underwent surgical repair in our hospital, aged from 33-day to 20-month. We took enhanced CT scan with three-dimensional reconstruction and pulmonary vein wedge angiography(PVWA) to confirm the diagnosis and to assess the surgical indications. We explored to mobilize the atresia patent ductus arteriosus(PDA) and adopted "two-segment" technique to reconstruct the absent pulmonary artery. The blood flow in the "neo" pulmonary artery, the improvement of the pulmonary hypertension and anticoagulant therapy were followed up closely after the operation.Results:There were particular traces on CT reconstruction images which were very important cues for cardiac surgeons inferring potential approaches during the operation, such as the aberrant "diverticulum" or "bud" in the position of the base of the innominate artery in all 3 infants which were confirmed as one end of the atresia PDA connecting the right pulmonary hilum; PVWA which can clearly show the development and distribution of the pulmonary vessels within the lung was taken in one patient. Significant alleviation of pulmonary hypertension happened immediately after the RPA reconstruction; 3 patients recovered smoothly. During early follow-up, RPA thrombosis happened in one patient was cured by continuous pumping anticoagulation with heparin. Now warfarin or aspirin was used with close follow-up.Conclusion:ARPA is not "no-fly zone" for surgical correction. Earlier diagnosis and pulmonary reconstruction in infant could get excellent early result. Some particular aberrant "diverticulum" on CT reconstruction images are important cues with PVWA still being the golden standard for diagnosis and assessment.

Objective To explore the diagnostic value of two-dimensional speckle tracking technology in the evaluation of right ventricular systolic function in patients with pulmonary disease .Methods Thirty patients with pulmonary heart disease were divided into two groups:group of compensated pulmonary heart disease(compensated group ) (n =15),group of decompensated pulmonary heart disease (decompensated group)( n =15).30 healthy subjects were enrolled in control group .The displacement of the tricuspid annulus at the midpoint(TADmid),the displacement of the tricuspid annulus at the free wall (TADfre) and the displacement of the tricuspid annulus at the septum (TADsep) were acquired,and simultaneous real-time three-dimensional ultrasound detection of right ventricular ejection fraction (RVEF) were taken.The correlation of TADmid with RVEF and pulmonary artery systolic pressure ( PASP) were analyzed.Results TADmid of the healthy control group,the compensated group and the decompensated group were(17.1 ±3.9)mm, (13.6 ±2.6)mm,and(9.5 ±3.2)mm respectively.TADfre were(21.1 ±3.0)mm,(17.6 ±4.2)mm,and (11.5 ±3.8) mm respectively.TADsep were(12.0 ±2.5) mm,(9.7 ±3.3) mm,and(7.4 ±2.7) mm respectively.RVEF were(56.3 ±8.2)%,(39.6 ±6.4)%,and(28.1 ±5.9)% respectively.PASP were (20.6 ±2.6) mm Hg (1 mm Hg =0.133 kPa), (63.3 ±5.6) mm Hg, and (82.5 ±11.2)mm Hg respectively.There were significant differences of TADmid , RVEF, and PASP among the 3 groups ( F =8.581,7.816,9.300,6.507,10.235, all P <0.05).TADfre, TADmid, TADsep and RVEF were all decreased in the compensated group comparing to the healthy control group ,while PASP was increased.The decrease of TADmid was the most significant ,while that of TADfre was the slightest .There were significant differences of TADfre,TADmid,TADsep,RVEF and PASP between the 2 groups(t=2.703,2.536,2.379, 2.817,3.026,all P<0.05).TADfre,TADmid,TADsep and RVEF of decompensated group reduced more significantly than the compensated group , while PASP was increased significantly .There were significant differences of TADfre,TADmid,TADsep,RVEF and PASP between the 2 groups(t=2.519,2.493,2.236, 2.621,2.985,all P<0.05);TADfre and TADmid were decreased more apparently in decompensated group than that in compensated group ,and so were TADsep and RVEF,while PASP were increased.There were significant differences of TADfre,TADmid,TADsep,RVEF and PASP between the 2 groups (t =1.947, 2.680,2.016,2.653,2.893,all P<0.05).There was significant positive correlation between TADmid and RVEF measured by real-time three-dimensional ultrasound (r =0.904,P <0.01 ).There was significant negative correlation between TADmid and PASP (r=-0.686,P<0.01).The cut-off point value of TADmid measured by speckle tracking technology for evaluation of RVEF <45% and<30% were 13.65 mm and 9.80 mm,respectively.The sensitivity were 94.4%and 90.0%respectively,and the specificity were 78.6%and 90.0%respectively.Conclusions TADmid is hardly affected by the external factors ,and it can better reflect the changes of right ventricular systolic function for patients with pulmonary heart disease .TADmid is positively correlated with RVEF measured by real-time three-dimensional ultrasound and negatively correlated with PASP.Further more,the correlations is significant.The three parameters can authenticate mutually ,and the combination of them can evaluate the right ventricular systolic function in patients with pulmonary heart disease precisely.

Objective To study the magnetic resonance imaging (MRI) features of primary central nervous system lymphoma in immunocompetent patients and assess the value of MRI in the diagnosis of the tumor. Methods Plain and enhanced MRI data of 15 immunocompetent patients with primary CNS lymphoma were analyzed retrospectively. Results A total of 18 lesions were detected in the 15 patients, including 14 (77.8%) supratentorial and 4 (22.2%) infratentorial ones. Seven lesions (38.9%) had obvious necrosis or hemorrhage, and leptomeninges metastasis was found in 2 patients. Fifteen lesions displayed isointensity on T2WI and TI WI. All the lesions showed markedly homogeneous enhancement. Seventeen of the lesions presented with mild or moderate mass effect. Conclusion Primary CNS lymphomas in immunocompetent patients are commonly seen in the supratentorial region. The MRI features of the lesions include isointensity on T2WI and TIWI, homogeneous enhancement, and mild or moderate mass effect.

OBJECTIVETo evaluate the development of the chest wall after costal cartilage harvesting in children.

METHODSThirty-nine patients, who underwent microtia reconstruction with costal cartilage grafts, were examined in the donor-site with physical examination and radiography. Forty normal children were selected as control.

RESULTSThere were no significant differences in size between the bilateral chests, and compared to the control. The rib deformity in each donor site was not observed on the radiography.

CONCLUSIONSThe costal cartilage harvesting in children has no significant evidence to influence the development of the chest wall.

Adolescent ; Adult ; Cartilage ; surgery ; transplantation ; Child ; Female ; Humans ; Male ; Postoperative Care ; Postoperative Period ; Radiography, Thoracic ; Reconstructive Surgical Procedures ; Thorax ; metabolism ; physiopathology

OBJECTIVETo study the expression of carbonic anhydrase IX (CAIX), PAX2 and PAX8 in different types of renal epithelial tumor and their association with clinicopathologic characteristics.

METHODSImmunohistochemical study by EnVision method was performed in order to assess the expression of CAIX, PAX2 and PAX8 in 155 cases of renal cell carcinoma and 4 cases of metastatic clear cell renal cell carcinoma (CCRCC). Ninety-six cases of non-neoplastic renal parenchymal tissue adjacent to CCRCC, 8 cases of clear cell hepatocellular carcinoma and 2 cases of clear cell hidradenoma were used as controls.

RESULTSCAIX was commonly expressed in CCRCC (94.0%, 63/67), of which 77.8% (49/63) showed strong positivity. CAIX was focally positive in papillary renal cell carcinoma, collecting duct carcinoma and urothelial carcinoma of renal pelvis. It was negative in chromophobe renal cell carcinoma, oncocytoma and adjacent non-neoplastic renal tissue. CAIX was also strongly expressed in the 4 cases of metastatic CCRCC. Focal expression of CAIX was demonstrated in the 8 cases of clear cell hepatocellular carcinoma and 2 cases of clear cell hidradenoma. The expression of CAIX in CCRCC did not correlate with tumor grading, clinical staging and presence of distal metastasis. On the other hand, PAX2 showed positive expression in different types of renal epithelial tumor, clear cell hepatocellular carcinoma and clear cell hidradenoma in various degrees. In contrast, PAX8 was commonly expressed in all types of renal epithelial tumor, with the exception of urothelial carcinoma of renal pelvis. PAX8 was not expressed in clear cell hepatocellular carcinoma and clear cell hidradenoma. Regarding diagnosis of CCRCC, CAIX demonstrated high sensitivity and specificity. PAX2 showed high specificity but low sensitivity. PAX8 was sensitive and specific in the diagnosis of renal epithelial tumor.

CONCLUSIONSCAIX is a useful immunohistochemical marker with high specificity and sensitivity in distinguishing CCRCC from other types of renal epithelial tumor and clear cell tumors of non-renal origin. PAX2 is a marker with high sensitivity and low specificity for diagnosis of renal epithelial tumors. PAX8 is typically expressed in renal epithelial tumors. The combined detection of CAIX, PAX2 and PAX8 is useful in the diagnosis and differential diagnosis of renal epithelial tumors.

Adenoma, Oxyphilic ; metabolism ; pathology ; Antigens, Neoplasm ; metabolism ; Carbonic Anhydrase IX ; Carbonic Anhydrases ; metabolism ; Carcinoma, Renal Cell ; metabolism ; pathology ; Diagnosis, Differential ; Humans ; Kidney Neoplasms ; metabolism ; pathology ; Male ; PAX2 Transcription Factor ; metabolism ; PAX8 Transcription Factor ; Paired Box Transcription Factors ; metabolism