Objective To explore the early diagnosis and treatment of Van Wyk-Grumbach syndrome (VWGS). Methods The clinical data of a child with VWGS were retrospectively analyzed. The related literatures were reviewed. Results Nine-year-old female presented with growth retardation and obesity for 3 years, combined with breast development for 6 months and vaginal bleeding for 3 month. The level of free thyroxine (FT4) was 0.46 ng/dL and thyrotropin (TSH)>150 mIU/L. The GnRH stimulation test showed that the gonad axis was not activated. The serum prolactin and estradiol were significantly increased. Bone age was delayed. Color Doppler ultrasound showed enlarged uterus and enlarged ovary, and ovarian cyst was seen. Pituitary MRI showed hyperplasia of the pituitary gland. The patient received the treatment of Euthyrox, and 2 months later, thyroid function was back to normal, ovaries were significantly reduced by reexamine of color doppler ultrasound, body weight was reduced by 6 kg, and there was no vaginal bleeding. Three months later, both ovaries returned to normal size, and pituitary MRI showed hyperplasia of adenohypophysis was improved. After 6 months, both of uterus and ovary were turn to normal size, ovarian cyst disappeared, and pituitary MRI showed normal. Conclusions VWGS is a rare complication of severe primary hypothyroidism untreated for long time and it mainly occurs in adolescent girls. Thyroid replacement therapy is effective.

Objective To estimate the effect of glycoprotein (transmembrane) nonmetastatic melanoma protein B (GPNMB) on the proliferation and migration of as well as melanogenesis in melanoma cells.Methods The expression of GPNMB was detected by immunofluorescence assay in two melanoma cell lines M14 and G-361,as well as in primary human melanocytes.Then,the three kinds of cells each were classified into three groups:experimental group treated with small interfering RNA targeting GPNMB (GPNMB-siRNA),negative control group treated with the negative control siRNA,blank control group remaining untreated.Methyl thiazolyl tetrazolium (MTT) assay,transwell invasion assay and spectrophotometry were performed to evaluate cell proliferation activity,invasion potential and melanin levels,respectively.Statistical analysis was done using Student's t test.Results GPNMB was expressed in both melanoma cells and melanocytes.The transfection with GPNMB-siRNA down-regulated the mRNA and protein expressions of GPNMB in,and markedly suppressed the proliferation and migration of,melanoma cells.In detail,the proliferative activity (expressed as the absorbence value at 570 nm) of M14 and G361 cells was reduced by 35％ and 40％ respectively,the migration activity of M14 and G361 cells by 49％ and 51％ respectively,and the melanin levels in melanocytes,M14 cells and G361 cells by 73％,82％ and 69％ respectively,in the experiment group compared with those in the blank control group.Conclusions The siRNA-mediated silencing of GPNMB could effectively inhibit the proliferation of,invasion of and melanogenesis in melanoma cells,which suggests that GPNMB plays critical roles in the initiation and progression of melanoma.

Objective: To investigate changes in species and amounts of intestinal flora after reconstruction of upper digestive tract, and the relationship with the infective complications.Methods: 52 patients with advanced malignancy being performed reconstruction of upper gastrointestinal tract was prospectively observed .The species of bacteria and counts of the colony forming units(CFU) were measured from juice taking from the upper jejunum through nasointestinal tube during operation, the second day and the fifth day after operation. Meanwhile, the plasma endotoxin concentration was determined with the modified chromogenic limulus assay.Results: There weren't significant changes of intestinal flora in species and amounts between groups (P＞0.05.) No any signs of bacterial translocation were seen. There was no significant difference for the level of plasma endotoxin between groups.Conclusion: There is no disorder of intestinal flora and bacterial translocation during the perioperative period after upper digestive tract reconstruction successfully.

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Objective To reconstruct skin defects with local flaps after resection of tumors. Methods From October 2006 to December 2009, medial canthal defects in 15 patients were repaired with local flaps in the hospital. The size of the defects varied from 1 cm × 1 cm to 1.8 cm × 2.0 cm. According to the size and location of the defects, different local flaps such as glabellar flaps ,rotation flaps, advancement flaps, nasolabial flaps and combination of these local flaps were selected and designed to repair the skin defects. Results Of the 15 patients, 12 received the reconstruction of skin defects with single flap, the other 3 with two flaps; totally,18 local flaps were designed and applied. All the flaps survived with primary healing postoperatively. A followup in 11 patients for 6 to 12 months showed that the color and texture of flaps were similar to those of surrounding tissues and incision line scar was inconspicuous. Medial canthal contours were restored without distortion of surrounding structures. Satisfactory function and aesthetic outcomes were achieved. Conclusions In the repair of inner canthus skin defects, to maintain and restore the "cosmetic unit" integrity of inner canthus by using suitable local flaps would lead to a satisfying restoration of function and appearance.

Coenzyme Q10 (CoQ10) is a lipophilic antioxidant that improves human immunity, delays senility and enhances the vitality of the human body and has wide applications in pharmaceutical and cosmetic industries. Microbial fermentation is a sustainable way to produce CoQ10, and attracts increased interest. In this work, the native CoQ8 synthetic pathway of Escherichia coli was replaced by the CoQ10 synthetic pathway through integrating decaprenyl diphosphate synthase gene (dps) from Rhodobacter sphaeroides into chromosome of E. coli ATCC 8739, followed by deletion of the native octaprenyl diphosphate synthase gene (ispB). The resulting strain GD-14 produced 0.68 mg/L CoQ10 with a yield of 0.54 mg/g DCW. Modulation of dxs and idi genes of the MEP pathway and ubiCA genes in combination led to 2.46-fold increase of CoQ10 production (from 0.54 to 1.87 mg/g DCW). Recruiting glucose facilitator protein of Zymomonas mobilis to replace the native phosphoenolpyruvate: carbohydrate phosphotransferase systems (PTS) further led to a 16% increase of CoQ10 yield. Finally, fed-batch fermentation of the best strain GD-51 was performed, which produced 433 mg/L CoQ10 with a yield of 11.7 mg/g DCW. To the best of our knowledge, this was the highest CoQ10 titer and yield obtained for engineered E. coli.
Alkyl and Aryl Transferases ; genetics ; Bacterial Proteins ; genetics ; Batch Cell Culture Techniques ; Escherichia coli ; genetics ; metabolism ; Fermentation ; Gene Deletion ; Industrial Microbiology ; Metabolic Engineering ; Rhodobacter sphaeroides ; enzymology ; genetics ; Ubiquinone ; analogs & derivatives ; biosynthesis ; Zymomonas ; genetics

β-carotene belongs to carotenoids family, widely applied in pharmaceuticals, neutraceuticals, cosmetics and food industries. In this study, three key genes (dxs, idi, and crt operon) within β-carotene synthetic pathway in recombinant Escherichia coli strain CAR005 were modulated with RBS Library to improve β-carotene production. There were 7%, 11% and 17% increase of β-carotene yield respectively after modulating dxs, idi and crt operon genes with RBS Library, demonstrating that modulating gene expression with regulatory parts libraries would have more opportunities to obtain optimal production of target compound. Combined modulation of crt operon, dxs and idi genes led to 35% increase of β-carotene yield compared to parent strain CAR005. The optimal gene expression strength identified in single gene modulation would not be the optimal strength when used in combined modulation. Our study provides a new strategy for improving production of target compound through modulation of gene expression.
Escherichia coli ; metabolism ; Gene Expression ; Gene Library ; Operon ; beta Carotene ; biosynthesis

Aiming at building research disciplines,Xijing hospital has initially achieved a strategic transformation into a hospital with research disciplines,with such measures as scientific layout of disciplines,making of advantageous disciplines with overseas benchmarks,encouragement of potential disciplines with advantageous disciplines,promotion of medical innovation with innovative ideas,and upgrading clinical service quality with technical innovation.

OBJECTIVENeonatal asphyxia is the third leading cause of neonatal death and main cause of long-term neurodevelopmental handicap throughout the world. Prevention is more important than treatment. Most previous reports are limited to retrospective investigations of the relationships between some prenatal risk factors and low Apgar scores. This study was designed to prospectively investigate the relationship between prenatal risk factors and neonatal asphyxia and the influence of single or multiple risk factors on the incidence of neonatal asphyxia, and examine significant risk factors for neonatal asphyxia.

METHODSFrom April 2002 through October 2004, a total of 10 376 live-born newborns were enrolled. Forty-six prenatal risk factors were investigated. Neonatal asphyxia was diagnosed based on the following four items: 1. 1-min Apgar score or=0.10 and p<0.05 as significant. The OR and 95%CI were calculated for each significant risk factor.

RESULTSOf the 10 376 newborns, 8 530 cases (82.21%) had 1-9 risk factors, and asphyxia occurred in 117 cases (1.13%) out of the 8 530 cases. In the 1 846 cases without risk factors, none had asphyxia (x2=25.6, p<0.01). The incidence of asphyxia increased with increasing numbers of risk factors, from 0.23% in newborns with one risk factor to 14.29% in newborns who had nine risk factors (r=0.96, p<0.01). Twelve significant risk factors identified were as follows: ominous fetal heart rate patterns (OR=17.1,95%CI:11.2-25.9), placenta abruption (OR=15.2, 95% CI: 4.5-51.8), maternal lung diseases (OR=11.5, 95% CI:1.4-91.3), fetal acidosis (OR=6.1, 95% CI:1.5-24.1), placenta previa (OR=5.0,95% CI:1.5-16.9), breech delivery (OR=4.5, 95% CI: 2.1-9.9), meconium stained amniotic fluid (OR=3.2, 95% CI:2.2-4.8), forcepsjassisted delivery (OR=3.2, 95%CI: 1.1-9.9), prolonged labor (OR=2.94, 95%CI:1.5-5.8), abnormal utero contraction (OR=2.8, 95% CI:1.7-4.6), and premature delivery (OR=2.5,95%CI:1.4-4.8). Cesarean section had a protective effect (OR=0.6, 95% CI:0.4-0.9) (all p<0.05).

CONCLUSIONSIt is very important to prevent perinatal asphyxia by systematically examining prenatal risk factors and giving interventions for the newborns with risk factors, especially those with the above significant risk factors or with multiple risk factors. Proper cesareon section according to indications might be helpful to decrease the incidence of birth asphyxia.

Adult ; Clavicle ; injuries ; surgery ; Fractures, Bone ; diagnostic imaging ; surgery ; Humans ; Male ; Radiography