blood of patients.

Objective To explore the clinical value of two-dimensional speckle tracking imaging (2DE-STI) by measuring global longitudinal strain (GLS) in normal children.Methods Totally 176 normal children underwent cardiac ultrasound examination,the left ventricular GLS were measured,and the difference of GLS between gender was analyzed.And the changes of GLS with body surface area (BSA) and age were discussed.Results GLS had no significant difference between male and female ([-24.90 ± 2.06]％ vs [-24.93 ± 2.01]％,t =0.83,P =0.934).GLS had significant differences among different BSA groups (F=3.84,P =0.003),and the differences of GLS in BSA＞ 1.0 group and the other five groups were statistically significant (all P＜0.05).GLS had statistically significant differences among different age groups (F=4.81,P=0.001),and the differences of GLS in ＞9 years old group and the other four groups were statistically significant (all P＜0.05).Conclusion Left ventricular GLS presents certain regularity with children's growth.

OBJECTIVETo discuss the genetic diagnosis of congenital adrenal hyperplasia (CAH) and investigate the resource of gene mutations in CAH.

METHODEnzymatic methods with restriction endonucleases that specifically recognized the mutation sites were used to detect the gene mutations in patients with CAH and their relatives. Polymerase chain reaction and direct sequencing were used to identify the mutations in 21-hydroxylase gene, and short tandem repeat (STR) typing was used to determine the sources of the mutations.

RESULTSOne CAH patient had two known mutations in 21-hydroxylase gene, namely the I2g and I172N mutations. The former mutation was inherited from the biological mother and the latter was not inherited.

CONCLUSIONThe 9 common mutations of CAH are also the hotspots for new mutations.

Adrenal Hyperplasia, Congenital ; diagnosis ; genetics ; Gene Deletion ; Genotype ; Humans ; Mutation ; Point Mutation ; Polymerase Chain Reaction ; Steroid 21-Hydroxylase ; genetics

Objective:To investigate the feasibility and efficacy of retroperitoneal laparoscopy combined with lower abdominal incisions in the surgical treatment of upper urinary tract urothelial cell carcinoma.Methods:The clinical data of 52 patients with renal pelvic and ureteral cancer, who received radical nephrectomy using the retroperitoneal laparoscopy combined with a lower abdomen incision approach in Hubei Provincial General Hospital of Armed Police Force from April 2005 to December 2016, were retrospectively analyzed. All 52 patients had unilateral renal pelvic and ureteral cancer but with no lymph nodes or distant metastasis. During general anesthesia in a healthy side-lying position, patients underwent retroperitoneal laparoscopic radical nephrectomy. The affected ureter was clamped but not disconnected. Renal blood vessels were clamped with Hem-o-lock clips. Renal arteries and veins were cut off. Then the kidney was completely isolated. Three laparoscopic incisions were sutured. After taking the patients to be in the supine position, a 5-6 cm-long incision was made in the lower abdomen on the affected side. The lower ureter was dissociated from the bladder. A 1.5 cm-long bladder wall was dissected in the sleeve manner. The affected kidney and ureter were completely removed from the lower abdomen through the made small incision. A rubber drainage tube was inserted in another incision made at the lower end of the prior incision.Results:Operations were successful in all 52 cases. No cases were converted to open surgery, had blood transfused, or needed secondary surgery. There were no complications such as urinary leakage, incision infection, or massive bleeding. Postoperative pathology reported 41 cases of renal urothelial carcinoma and 11 cases of ureteral urothelial carcinoma. Forty-eight patients provided follow-up data, and four did not because of being lost. One patient died of a cardiovascular accident 13 months after surgery. Cystoscopy revealed that 47 cases had no bladder tumor, local or distant metastasis.Conclusion:The retroperitoneal laparoscopy combined with lower abdominal incisions approach is suitable for radical resection of renal pelvic or ureteral cancer owing to ease in operation, few requirements for surgical instruments, minimal invasion, and rapid recovery.

OBJECTIVETo identify the value of lymphography in the location and treatment decision of chyle leakage.

METHODSThe clinic data of 177 patients suffered from chyle leakage admitted in 6 medical centers in Shanghai from February 1998 to December 2014 was analyzed retrospectively. There were 94 male and 83 female patients aging from 9 to 84 years with a mean of 49 years, including 128 cases of chyluria, 34 cases of primary chylothorax and 15 cases of other chyle leakage. All patients had failed to conservative treatment more than 2 weeks. Pedal lymphography was performed in every patient to investigate the site and range of chyle leakage. Effect of surgical or conservative management was compared according to the different results of lymphography.

RESULTSNo serious complication was noticed. For all 177 patients, lymphography showed localized lymphatic diseases in 148 cases (83.6%), including 125 cases of lymphatic renal pelvic leaks, 14 cases of unilateral identified leak within thorax and 9 cases of chyle leakage in neck, heart, abdomen or scrotum. Among these patients, surgical treatment cured 129 and improved 3 patients but failed in 2 patients, while the remaining 14 cases had their leaks decreased after lymphography and cured by conservative management. For those 15 patients having disseminated lymphatic diseases or 14 with no abnormality under lymphography, surgery only cured 2 and improved 1 patient but failed in 8 patients (with 3 death), whereas continuous conservative treatment cured 11 patients, improved 5 patients but only failed in 2 patients (with one death). For localized leakage, surgical treatment showed better efficacy (98.5% vs. 3/11), whereas conservative treatment had significantly higher successful rate than surgical interventions in patients with disseminated lymphatic diseases or no abnormality under lymphography (16/18 vs. 3/11).

CONCLUSIONSLymphography could identify the location and range of complicate chyle leakage failed to primary conservative management. Patients with disseminated lymphatic diseases or no abnormality under lymphography would be better managed by continuous non-operative treatment partly due to therapeutic effect of lymphography, while surgical intervention could be a good option for patients having localized lymphatic etiology.

Abdominal Cavity ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Chyle ; Chylothorax ; diagnosis ; surgery ; Female ; Heart ; Humans ; Kidney Pelvis ; Lymphatic Diseases ; Lymphography ; Male ; Middle Aged ; Neck ; Retrospective Studies ; Scrotum ; Young Adult

OBJECTIVE: To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation. METHODS: For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase RESULTS: For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele. CONCLUSION FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.
Female ; Fragile X Mental Retardation Protein/genetics* ; Fragile X Syndrome/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Pregnancy ; Prenatal Diagnosis