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.

Child, Preschool ; Fatal Outcome ; Female ; Humans ; Respiratory Tract Infections ; complications ; Shock, Septic ; etiology ; Streptococcal Infections ; complications

Objective To assess the continent diversion results of sigma rectum pouch after radical cystectomy. Methods The reconstruction of bladder with sigmoid was modified for treatment of 18 cases of bladder tumor.The intestine was incised over a length of 20～24 cm with the junction of sigmoid colon and rectum as the midpoint so as to create a low pressure reservoir for urine and side-to-side anastomosis was performed on the posterior borders of the rectosigmoid wall.Submucosal tunnel modified technique was em- ployed in antireflux urethral implantation,Urination has been controlled by anal sphincter.Results About 80 minutes was spent to finish a new low pressure pouch after radical cystectomy.Among 18 patients with this op- eration,the controlled emiction were good after pull out the anal duct and"J"stent in 1 week to 2 months.Af- ter 2 months,the times of urination is stable,4～5 times in daytime and 1～3 times during nighttime.Two pa- tients had nocturnal enuresis and the symptom vanished after 2 months. One patient had adhesive ileus, two patients had hyperchloremia acidosis and kaliopenia,one patient had urethral stump cancer.There is no com- plication as anastomotic block,renal function lesion and severe upper urinary tract infection. Conclusion This operative method was easy,emiction control was well,and with higher quality of life for patients.It is al- so a better alternative diversion procedure that would be easily accepted.

OBJECTIVETo investigate the mechanism and factors affecting mosaicism in human preimplantation embryos by using 2 sequential rounds of fluorescence in situ hybridization(FISH).

METHODSTotally 51 normal fertilized embryos, which were not suitable for embryo transfer and cryopreservation, were analyzed on day 3 after fertilization by using two sequential rounds of FISH. Chromosomes 13, 16, 18, 21, 22, X and Y were analyzed.

RESULTSAmong 51 embryos, 16 (31.4%) were mosaic, 12 (23.5%) were chaotic, and the remaining were either normal (27.5%) or non-mosaic abnormal (17.6%). The incidence of mosaic embryos was related to embryo developmental stage, for the incidence of mosaicism increased from 12.5% in embryos

CONCLUSIONMosaicism is common in human preimplantaion embryos, which may be one of the important factors affecting the success rates in IVF-ET. Most of the chromosomal abnormalities can be identified by two sequential rounds of FISH.

Aneuploidy ; Blastocyst ; Chromosomes, Human ; Embryo Transfer ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Mosaicism ; chemically induced ; embryology ; Preimplantation Diagnosis

OBJECTIVETo investigate drug resistance, genotype and serotype of hepatitis B virus (HBV) in nucleos(t)ide analogue (NA) naive patients with chronic hepatitis B (CHB).

METHODSFull-length reverse transcriptase region of HBV DNA was amplified by semi-nested polymerase chain reaction from 97 NA-naive CHB patients, and the PCR product was sequenced, and analyzed to screen 11 classical antiviral drug resistance mutation sites and to identify HBV genotypes, subgenotypes and serotypes.

RESULTSWild-type sequences were found at all of the 11 classical antiviral drug resistance mutation sites from all samples. The patients were infected with either genotype B (36.1%, 35/97) or C (63.9%, 62/97) HBV. The former were all belonged to subgenotype B2 strain; while the latter were divided further into subgenotype C2 (91.9%, 57/62), subgenotype C1 (6.5%, 4/62) and unknown subgenotype (1.6%, 1/62). The 71.9% (23/32) of HBV genotype B patients were born in southern China, while 81.6% (40/49) of HBV genotype C patients were from northern China, showing a clear geographic distribution (Chi-square test = 23.19, Probability value less than 0.01). Of 97 CHB patients, 59 (60.8%) were serotype adr associated with genotype C, while 37 (38.1%) were adw related to genotype B (subgenotype B2) (Chi-square test = 87.83, P less than 0.01).

CONCLUSIONThe wild-type HBV strains prevail in NA-naive CHB patients, whose HBV genotypes, subgenotypes and serotypes are associated with their places of birth.

Adult ; Antiviral Agents ; therapeutic use ; Base Sequence ; DNA, Viral ; blood ; genetics ; Drug Resistance, Viral ; genetics ; Female ; Genetic Variation ; Genotype ; Hepatitis B virus ; classification ; genetics ; Hepatitis B, Chronic ; drug therapy ; epidemiology ; virology ; Humans ; Male ; Middle Aged ; Nucleotides ; therapeutic use ; Polymerase Chain Reaction ; methods ; Sequence Analysis, DNA ; Serotyping ; Young Adult

To explore the method of displaying the bone and joint structures transfixed with stainless steel lag screws using magnetic resonance imaging (MRI), 2 patients whose knee joints (and ankle joint in one case) were transfixed with stainless steel underwent MRI with FSE-XL pulse sequence. The images clearly displayed the bones, ligaments and articular cartilage around the stainless steel materials, demonstrating the efficacy of FSE-XL pulse sequence in evaluation of the anatomical features of the bones and joints transfixed with stainless steel materials.
Bone Screws ; Female ; Femur ; surgery ; Humans ; Knee Joint ; surgery ; Magnetic Resonance Imaging ; methods ; Male ; Middle Aged ; Stainless Steel ; Tibia ; surgery ; Young Adult

OBJECTIVETo investigate the clinical manifestation, individualized surgical treatment, and prognosis of intraductal papillary mucinous neoplasms (IPMN) of pancreas.

METHODSThe clinical data of 56 IPMN cases treated between January 2007 and December 2011 was retrospectively analyzed. Among the 56 patients (38 male and 18 female, mean age (61 ± 7) years), 26 were main-duct type, 18 were branch-duct type, 12 were mixed type. Pancreatectomy was performed on 48 cases, including pancreaticoduodenectomy on 29 patients, distal pancreatectomy on 17 patients, and total pancreatectomy on 2 patients.

RESULTSThe overall postoperative morbidity rate was 27.1% (13/48), there was no perioperative mortality. Pathology showed 31 cases of noninvasive IPMN, 17 cases of invasive IPMN, and 7 cases of lymph node metastasis. The rate of invasive tumors was 46.2% (12/26) in main duct type, 3/12 in mixed type, and 2/18 in branch duct type IPMN, the difference was statistically significant (χ(2) = 6.385, P = 0.041). The five-year survival rate for patients with noninvasive and invasive neoplasms was 100% and 24.6%, respectively. The prognosis of invasive cases with lymph node metastasis was significantly worse than those without lymph node metastasis (P = 0.017). A regular follow-up without surgical treatment was performed on 8 cases with asymptomatic side branch IPMN less than 3 cm in diameter, and no progression was found during the follow-up.

CONCLUSIONSIPMN has a relative good prognosis. Main duct type and mixed type IPMN have a higher malignant potential, and should receive a surgical treatment. Patients of branch duct type IPMN with a <3 cm diameter lesion and no clinical manifestations can be managed with close follow-up only.

Aged ; Carcinoma, Pancreatic Ductal ; pathology ; surgery ; Female ; Humans ; Male ; Middle Aged ; Pancreatectomy ; Pancreatic Neoplasms ; pathology ; surgery ; Prognosis ; Retrospective Studies ; Survival Rate

OBJECTIVETo analyze the causes and clinical features of gastrointestinal hemorrhage following pancreaticoduodenectomy (PD), and to provide the management strategies for this complication.

METHODSThe clinic data of 412 patients who underwent PD from January 2000 to April 2010 was retrospectively reviewed. There were 232 male and 180 female patients, average age was (60 ± 12) years. The mode of procedure was standard PD and the Child's reconstruction of digestive tract, whose anastomosic steps encluded gastroenterostomy following chlangioenterostomy and pancreaticoenterostomy, was employed. Etiology of gastrointestinal haemorrhage, diagnostic methods and treatment strategy was recorded and analyzed.

RESULTSThe postoperative mobidity was 37.1% (153/412), the rate of haemorrhagic complications was 6.6% (27/412), and gastrointestinal hemorrhage was recorded in 11 patients (2.7%). The bleeding rate of pancreaticointestinal anastomosis and gastricointestinal anastomosis were 5/11 and 4/11, respectively. Among these 11 patients, early hemorrhage occurred in 6 patients, 7 patients were due to technical failure. In order to control this kind of complication, open abdominal operation alone was performed on 4 patients, endoscopic management was performed on 3 patients and succeeded in 2 patients, vascular interventional therapy was performed on 5 patients and succeeded in 2 patients, and Re-laparotomy following vascular interventional therapy was performed on 2 patients successfully.

CONCLUSIONSGastrointestinal hemorrhage following PD always occurred in early stage and reliable hemostasis during operation is the key points for prevention. Angiography is minimally invasive and holds the diagnostic value. Timely and decisive reoperation is an important method to management of postoperative gastrointestinal hemorrhage.

Aged ; Female ; Gastrointestinal Hemorrhage ; etiology ; therapy ; Humans ; Male ; Middle Aged ; Pancreaticoduodenectomy ; adverse effects ; Postoperative Hemorrhage ; therapy ; Retrospective Studies ; Treatment Outcome

This study was purposed to investigate the megakaryocytic dysplasia and leukemia-associated phenotypes (LAP) of acute myeloid leukemia (AML) in the elderly. The megakaryocytic dysplasia, lineage infidelity, asynchronous antigen expression, total WBC count, and karyotypes were observed in the 147 none M(3)-AML patients. Logistic regression were used to analyzed the difference between the elderly (age > or = 60) and the control. The results showed that out of the total 147 patients (66 elderly patients, and 81 younger patients) 124 patients accepted induction chemotherapy, in which 70 cases achieved complete remission (elderly 18, younger 52, p = 0.008); megakaryocytic dysplasia was found in 32 patients (21.8%); CD33 and CD19/CD7 (lineage infidelity) was co-expressed in 55 patients (37.4%), CD34 and CD11b (asynchronous antigen expression) was co-expressed in 65 patients (44.2%); white blood cell count > 25 x 10(9)/L was found in 52 patients (35.4%). By the Logistic regression, compared with the control, in the elderly patients there was difference in the megakaryocytic dysplasia, and the co-expression of CD33/CD19/CD7 and CD34/CD11b (OR = 4.315, 2.761, 0.397; p = 0.001, 0.006, 0.020), but there was no difference in the total WBC count and karyotypes (OR = 0.802, 1.096; p = 0.646, 0.813). It is concluded that the incidence of megakaryocytic dysplasia, such as lineage infidelity, and asynchronous antigen expression, in elderly patients is higher than that in younger patients.
Adolescent ; Adult ; Age Factors ; Aged ; Aged, 80 and over ; Female ; Humans ; Immunophenotyping ; Leukemia, Myeloid, Acute ; immunology ; pathology ; Logistic Models ; Male ; Megakaryocytes ; pathology ; Middle Aged ; Prognosis ; Young Adult

OBJECTIVETo investigate the genotypes and clinical features of children with HbH disease in Guangxi Zhuang Autonomous Region, China.

METHODSA total of 595 children from Guangxi were recruited. Single-tube multiplex polymerase chain reaction combined with agarose gel electrophoresis, as well as reverse dot blotting, were performed to detect the three α-globin gene deletion mutations (--(SEA), -α(3.7), and -α(4.2)) and three non-deletion mutations (Hb Westmead, Hb Constant Spring, and Hb Quong Sze) which are common in the Chinese population.

RESULTSAmong the 595 cases, five common genotypes were identified, which were --(SEA)/-α(3.7) (232 cases), --(SEA)/α(CS)α (174 cases), --(SEA)/-α(4.2) (122 cases), --(SEA)/α(WS)α (35 cases), and --(SEA)/α(QS)α (24 cases). The genotype of THAI deletion associated with α-thalassemia-2 was detected in eight cases. Six β-mutations including CD41-42, CD17-28, CD26, IVS-II-654, IVS-I-1, and CD27-28 were identified in 23 cases. All children with HbH disease had microcytic hypochromic anemia; children with HbH-CS disease had the most severe anemia, and those with HbH-WS disease had the mildest anemia.

CONCLUSIONSDeletional HbH disease is the main type in children with HbH disease in Guangxi, and some patients also have mild beta-thalassemia. Non-deletional HbH disease shows more severe phenotype than deletional HbH disease.

Adolescent ; Child ; Child, Preschool ; Female ; Genotype ; Hemoglobin H ; genetics ; Humans ; Infant ; Male ; Multiplex Polymerase Chain Reaction ; alpha-Thalassemia ; genetics