ABSTRACT
Hypospadias, a malformation of male external genitalia, is characterized by an aberrant opening of the urethra on the ventral side of the penis. It is considered a complex disorder with both environmental and genetic factors involved in its pathogenesis. To identify the genetic abnormality involved in the pathogenesis of hypospadias, we performed whole exome sequencing (WES) analysis in 42 hypospadias patients with karyotype 46, XY in the Nanhai Meternity&Child Health Hospital of Foshan. All the likely pathogenic variants were confirmed by Sanger sequencing and assessed by Sorting Intolerant from Tolerant (SIFT), PROVEAN, PolyPhen2, ClinPred, LRT, Mutation Assessor, FATHMM, and GERP software. We discovered 27 gene mutations in 20 patients, including eight cases of the SRD5A2 gene, 4 cases of the AR gene, 3 cases of the CYP17A1 gene, 1 case of the WT1 gene, 1 case of the ANOS1 gene, 1 case of the NR5A1 gene, 1 case of the FGFR1 gene, and one case of the DHX37 gene. Our study is the first to describe six novel missense mutations, AR(c.302G > A, c.2593G > T, and c.1705G > T), CYP17A1(c.1298 T > C), FGFR1 (c.995C > T) and DHX37(c.923G > A). In summary, genetic defect detection was useful for early diagnosis of severe hypospadias in the Han Chinese population. Nevertheless, most cases remain unexplained, and the exact pathogenesis of hypospadias still needs further study.
Subject(s)
Exome Sequencing , Hypospadias , Asian People/genetics , Child , China , Humans , Hypospadias/genetics , Male , MutationABSTRACT
BACKGROUND: Senile hip fracture is a common disease, and its high disability and lethality severely affect the lifetime and quality of life of the elderly.OBJECTIVE: To summarize the research progress of senile osteoporotic hip fractures.METHODS: A computer-based search of CNKI, CqVip, WanFang and PubMed databases was performed for relevant basic research published from January 1995 to September 2016 using the keywords of osteoporosis,hip fracture, epidemiology in Chinese and English, respectively. Meanwhile, references in the searched articles were retrieved, finally 27 eligible articles were enrolled for analysis.RESULTS AND CONCLUSION: (1) The occurrence of senile osteoporotic hip fractures is closely related to the bone mineral density, proximal femur geometry, and fall-strain. (2) The preventions of osteoporotic fractures include primary prevention aiming at risk factors for osteoporosis and secondary prevention for osteoporotic patients. (3) The surgical treatment of femoral neck fracture is divided into open/closed reduction and internal fixation, femoral head arthroplasty and total hip arthroplasty. (4) Sliding hip screw fixation, proximal femoral intramedullary nail, external fixator and femoral head arthroplasty are used to treat intertrochanteric fracture. (5) There are various drugs used for hip fracture, such as calcium, vitamin D, estrogens, calcitonin and bisphosphonates. Indeed, individual treatment contributes to postoperative rehabilitation.
ABSTRACT
Objective To evaluate the feasibilty of modified osteogenic culturing of goat adipose derived stromal cells(ADSCs).Methods From March,2013 to September,2014,platelet-rich plasma(PRP) was made from goat autogenous vein blood,and abodimoneal fat was aspirated,following aspetic procedure,primary and series passage of ADSCs was established.Osteoinduced ADSCs was carried out according to following group:combinative osteoinduction group(PRP+rhBMP-2 +ADSCs),growth factor group(rhBMP-2+ADSCs),conventional inductive group(dexamathasone+ascorbic acid + ADSCs) and noninductive group(blank group).Converted microscope was used to observe cellular pattern,cell activity,osteocalcin and collagen type Ⅰ level were detected at 1,3,5,7,9,13,17,21 days.Red Alazarin and Von Kossa staining were also assayed at different interval.Results Under observation of converted microscopy,remarkable cell proliferation with abundant ECM was noticed in combinative osteoinduction group,compared with other groups,level of cell activity,osteocalcin,collagen type Ⅰ [(0.82 ± 2.19)AU,(79.82 ± 1.36)U/L at,(78.51 ± 4.32)μ g/ml at]were significantly higher than other groups (P ＜0.05),and remarkable ALP expression and calcifed nodules were also seen.Conclusion PRP can enhance the inductive effect of rhBMP-2,and combinative osteoinduction procedure acts as a satisfactory culturing method.
