OBJECTIVETo characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients.

METHODSClinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene.

RESULTSPCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient.

CONCLUSIONCombined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.

46, XX Disorders of Sex Development ; genetics ; Adolescent ; Adult ; Child, Preschool ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Genetic Association Studies ; methods ; Humans ; Karyotyping ; methods ; Male ; Sex Chromosome Aberrations ; Translocation, Genetic ; Young Adult

Twelve cases of Bartter's syndrome were reported and reviewed retrospectively.Usually vomiting was the first sympton in children,while fatigue was common in adults.Bartter's syndrome was characteristic of hypokalemia,metabolic alkalosis,elevations of plasma renin activity,serum angiotersinⅡand aldosterone and juxtaglomerular apperatus hyperplasia.Supplementation of potassium choloride was the main manner of therapy.

OBJECTIVETo analyze the role of step-test on large sample surveillance in students' physical fitness and health.

METHODSTotally, 36 237 students aged 12-, 14- and 17-year-old from fifteen Chinese provinces taking part in the 2004th National Surveillance on Students' Physical Fitness and Health were enrolled in this study. All of them passed through the step-test, of which the indices were calculated in combining with the performance time and pulse rates in resuming period. The means of step-test index were analyzed among various youth groups, and compared with the obesity, overweight and the normal-weight subjects.

RESULTSAs compared with the general level of physical growth, the means of step-test index were found higher in rural groups than in urban ones, and higher in southern groups than in northern ones. The highest means of index was found in the rural groups in having the lowest socioeconomic status, and also the lowest means found in metropolis groups having the highest socioeconomic status. These gaps were due to the change of life style, absence of physical exercise and relatively to the high body weight of the high socioeconomic-level groups. Among the obesity, overweight and normal-weight youths, the means of step-test index was shown in a gradient decrease tendency, and those significant gaps might be found between the obesity and the overweight, and the overweight and the normal-weight groups, showing that there should be harmful influences of overweight and obesity on the youth's cardiovascular function.

CONCLUSIONAs a safe and easily-taken measure for cardiovascular function, the step-test should be useful in regularly measuring the national students' physical fitness and health status.

Adolescent ; Body Mass Index ; Child ; Exercise ; Exercise Test ; Female ; Humans ; Male ; Obesity ; prevention & control ; Physical Fitness ; Rural Population ; statistics & numerical data ; Students ; statistics & numerical data ; Urban Population ; statistics & numerical data ; Young Adult

OBJECTIVETo determine the origin of chromosomal aberrants in a mentally retarded children, and to correlate the karyotype with phenotype.

METHODSRoutine G-banding were performed to analyze the karyotype of the patient and her parents, and array comparative genomic hybridization (array CGH) were used for finely mapping the aberrant regions.

RESULTSThe mother had a normal karyotype. The father had an apparently balanced translocation involving chromosome 7q and 14q, the karyotype was 46, XX, t(7;14) (q34;q32), the karyotype of the child was then ascertained as 46, XX, der(14) t(7;14) (q34;q32.33) pat. Array CGH finely mapped the duplication to 7q34-qter, a 17.09 Mb region, and a very small associated deletion of distal chromosome 14 to 14q32.33-qter, a 2.27 Mb region. The patient presented some frequently seen features in partial trisomy 7q cases such as mental retardation, low birth weight, small nose, cleft palate, low-set ears and short neck.

CONCLUSIONThis result suggested that partial trisomy 7q exert mainly phenotypic effect on the patient. Parental karyotype analysis could help define the aberrant type.

Abnormalities, Multiple ; genetics ; Adult ; Child, Preschool ; Chromosome Banding ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 7 ; genetics ; Comparative Genomic Hybridization ; Female ; Humans ; Intellectual Disability ; genetics ; Karyotyping ; Male ; Translocation, Genetic ; Trisomy ; genetics

AIMTo study the pharmacokinetics of genistein in Beagle dogs.

METHODSGenistein, suspended in 0.5% CMC-Na solution, was orally administered to Beagle dogs at the dose of 5.34 mg.kg-1. At various time intervals, 1.5 mL of blood was drawn from the vein of dogs in their front legs. At the same time, urine and feces were collected. After the collection, the feces were homogenized with physiological saline (to 1 g feces, 10 mL physiological saline were added). The genistein in plasma, urine and homogenized feces was extracted twice by vortexing with 2.0 mL mixture of methyl tert-butyl ether and pentane (8:2). The organic phase was transferred into tubes and evaporated in ventilation cabinet. The residue was dissolved in 50 microL of methanol and 20 microL of the solution was drawn and detected by high-performance liquid chromatography. The pharmacokinetic parameter was calculated by 3P97 software.

RESULTSThe plasma concentration-time curve was fitted to a one-open-compartment model. The peak time was 0.29 h, and the elimination half-life was 0.52 h. After genistein was administered, 10.79% of genistein were excreted from urine and 21.55% from feces within 24 h. It was also found that 13.00% genistein were excreted from urine and 52.46% from feces within 60 h.

CONCLUSIONIt showed that the speed of absorption and elimination of genistein was high in Beagle dog, and genistein was mainly excreted in the form of parent compound in urine and feces.

Animals ; Anticarcinogenic Agents ; blood ; pharmacokinetics ; urine ; Area Under Curve ; Chromatography, High Pressure Liquid ; Dogs ; Feces ; chemistry ; Genistein ; blood ; pharmacokinetics ; urine

OBJECTIVETo discuss the etiology, diagnostic criteria and treatment of Nelson's syndrome.

METHODSTwenty-three patients with Nelson's syndrome who were treated in our department over the last 19 years were analyzed retrospectively. Removal of adenoma by the transsphenoidal approach was done in 21 patients and by transfrontal craniotomy in 2. The follow-up period ranged from six months to nine years.

RESULTSThe incidence of Nelson's syndrome was 7.7% in a series of 300 patients with Cushing's disease treated by microsurgery in the same period. Hyperpigmentation was relieved and adrenocorticotropic hormone (ACTH) levels decreased in all patients after tumor excision. Eight patients with visual disturbance improved after surgery. The curative and remission rates were 56.5% and 26.1%, respectively.

CONCLUSIONSTranssphenoidal microsurgical removal of pituitary ACTH adenoma is the first choice in the prevention and treatment of Nelson's syndrome. Regular follow-up examinations should be performed over a long time.

Adolescent ; Adult ; Female ; Follow-Up Studies ; Humans ; Incidence ; Male ; Microsurgery ; methods ; Middle Aged ; Nelson Syndrome ; epidemiology ; etiology ; surgery

Objective To investigate the long-term follow-up results of patients treated with radical nephrectomy for small renal carcinoma.Methods Between January 1992 and June 2004,a total of 56 pa- tients(41 men and 15 women;mean age,54 years;age range,19-71 years)underwent radical nephrectomy for small renal carcinoma.The clinical data and long-term follow-up results of the 56 cases were analyzed ret- rospectively.All the patients were followed by questionnaire;and the 5-and 10-year survival rates were calcu- lated by Kaplan-Meier method.Results None of the patients was found to have metastasis preoperatively. Postoperative pathology showed renal clear cell carcinoma in 44 cases,granular cell carcinoma in 7,and mixed cell carcinoma in 5.Among these cases,ipsilateral adrenal metastasis was found in 1 case,local lymph- aden metastasis in 2,and perirenal fat metastasis in 4.Postoperatively,49 of the 56 patients(87.5%)were followed for 11-155 months with a mean of 71 months.The 5-and 10-year survival rates were 81.7% and 66.9%,respectively.Five patients died of metastasis from renal carcinoma.Conclusions Radical ne- phrectomy for small renal carcinoma has favorable long-term effects,therefore it is an optimal surgical proce- dure for small renal carcinoma.

Objective To study the effect and prognosis of percutaneous coronary intervention(PCI) for pa- tients with coronary artery disease(CAD).Methods Selected coronary angiography was performed in 31 patients with CAD.PTCA and stent implantation were performed in the patients of coronary stenosis(≥75 % in diameter). The effect and prngnosis of coronary interventionary therapy in patients were observed.Results The results of coro- nary angiongraphy suggested there were 18 patiens of coronary stenosis(≥75 % in diameter),PTCA and stent im- plantation were performed in 13 patients.Symptom was relieved greatly after the operation.There were 2 patients of coronary stenosis again,and 5 patients died.Conclusion Selected coronary angiography was an effective way to di- agnose CHD.The coronery interventioned therapy was not only effective in relieving symptom,but also in improving the quality of life of patients with CAD.

OBJECTIVETo evaluate the feasibility of reconstruction of rabbit urethra using urethral extracellular matrix.

METHODSExtracellular matrix was obtained from the urethra of 20 donor New Zealand rabbits. In experimental group, 20 rabbits underwent segmental urethral resection (about 1.0 to 1.5 cm in length) and the defects were replaced by a tube of extracellular matrix. The serum TNFalpha was detected by ELISA to assess the immunity response preoperatively and 12, 24, 48 h postoperatively. The regenerated urethral segments were taken for histologic and pathologic study 10 days, 3 weeks, 6 weeks and 24 weeks after operation. The urodynamics, urethroscopy and urethrography were also performed.

RESULTSThe serum TNFalpha in experiment group slightly rised, with no significant difference when compared with that in control group. 10 days after operation, epithelial cell migrated into the extracellular matrix from two ends, and small vessels were also found. 3 weeks later, several layers of urothelium covered the whole surface of the matrix tube. 6 weeks later, the irregularly arranged smooth muscle fibers were fist observed by Van Gieson staining. 24 weeks after operation, the smooth muscle cells increased, the appearance of the regenerated urethra segments were very similar to normal urethral wall components. The urethrography and urodynamic evaluation revealed no difference between the normal and the regenerated urethral tube.

CONCLUSIONSThe urethral extracellular matrix might be an ideal replacement material for urethral defect.

Absorbable Implants ; Animals ; Biocompatible Materials ; Extracellular Matrix ; transplantation ; Male ; Rabbits ; Reconstructive Surgical Procedures ; methods ; Regeneration ; Tumor Necrosis Factor-alpha ; metabolism ; Urethra ; surgery

OBJECTIVETo assess the clinical effects and safety of modified ultrafiltration during pediatric cardiac surgery.

METHODSThe clinical trials were located through electronic searches of the Cochrane Library (Issue 2, 2009), PubMed (1991 to April 2009), EMBASE (1991 to April 2009), China National Knowledge Infrastructure (CNKI, 1994 to April 2009), VIP (1991 to April 2009) and China Biomedicine Database (CBM, 1991 to April 2009), with the languages limited in English and Chinese. In strict accordance with the inclusion and exclusion criteria of the studies, two authors independently evaluated the quality of the included studies. Meta analysis of the studies was conducted using RevMan5.0 software, and the studies that could not be combined was analyzed descriptively.

RESULTSA total of 9 trials involving 587 patients were included. The results showed that compared with the group without ultrafiltration, the modified ultrafiltration group was superior in duration of postoperative mechanical ventilation [MD=-3.66, 95%CI (-6.02, -1.29), P=0.002] and showed no significant differences from the conventional ultrafiltration group [MD=-3.21, 95%CI (-6.90, 0.49), P=0.09]. Compared with balanced ultrafiltration group, the mechanical ventilation time, intensive care unit (ICU) monitoring time and the results of chest drainage in children were similar. Compared with the group receiving conventional or balanced ultrafiltration alone, the combined group of modified ultrafiltration had similar ventilation time [MD=-2.34, 95%CI (-6.74, 2.07), P=0.30] and ICU time [MD=-0.12, 95%CI (-0.31, 0.06), P=0.19]. The included studies reported no ultrafiltration-related complications.

CONCLUSIONModified ultrafiltration improves the clinical outcomes of patients undergoing cardiopulmonary bypass during pediatric cardiac surgery, but the current evidence has not been sufficient to support the notion that the modified ultrafiltration achieves better clinical results than conventional or balanced ultrafiltration.

Cardiac Surgical Procedures ; Cardiopulmonary Bypass ; Child ; Heart Defects, Congenital ; surgery ; Humans ; Information Storage and Retrieval ; Pediatrics ; Randomized Controlled Trials as Topic ; Treatment Outcome ; Ultrafiltration