Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency / 亚洲男科学杂志(英文版)

In this study, we investigated the genetics, clinical features, and therapeutic approach of 14 patients with 5α-reductase deficiency in China. Genotyping analysis was performed by direct sequencing of PCR products of the steroid 5α-reductase type 2 gene (SRD5A2). The 5α-reductase activities of three novel mutations were investigated by mutagenesis and an in vitro transfection assay. Most patients presented with a microphallus, variable degrees of hypospadias, and cryptorchidism. Eight of 14 patients (57.1%) were initially reared as females and changed their social gender from female to male after puberty. Nine mutations were identified in the 14 patients. p.G203S, p.Q6X, and p.R227Q were the most prevalent mutations. Three mutations (p.K35N, p.H162P, and p.Y136X) have not been reported previously. The nonsense mutation p.Y136X abolished enzymatic activity, whereas p.K35N and p.H162P retained partial enzymatic activity. Topical administration of dihydrotestosterone during infancy or early childhood combined with hypospadia repair surgery had good therapeutic results. In conclusion, we expand the mutation profile of SRD5A2 in the Chinese population. A rational clinical approach to this disorder requires early and accurate diagnosis, especially genetic diagnosis.

An experimental study on influence of concentration of fetal bovine serum on chondrogenesis of BMSCs / 中华整形外科杂志

<p><b>OBJECTIVE</b>To explore the chondrogenetic effect of induce media containing different concentrations of fetal bovine serum (FBS) on BMSCs differentiation in vitro and provide technical parameters for cartilage engineering in vitro.</p><p><b>METHODS</b>Passage 2 BMSCs of swine were seeded at the density of 5 x 10(7) cells/cm3 to disc-shaped PGA scaffolds with a diameter of 5mm and a thickness of 2mm. After 7days, the scaffolds were induced in media with TGF-beta1, IGF-I, dexamethasone, and different concentrations of FBS: 0% in A group, 5% in B group, and 10% in C group. Specimens were collected after 8 weeks for gross observation, size evaluation, wet weight, glycosaminoglycan (GAG) content, histology assessment, and immunohistology of type II collagen.</p><p><b>RESULTS</b>The compound of C group showed china-white color, hard and fine texture, no obvious change in size and shape, typical lacuna structures, cartilage specific ECM, and significantly higher wet weight and GAG content. The compound of B group showed reduced size, fewer lacuna structures and some cartilage specific ECM. And the compound of A group showed greatly reduced size, soft and loose texture, and no typical lacuna structure or cartilage specific ECM.</p><p><b>CONCLUSIONS</b>FBS was indispensable to chondrogenetic media for in-vitro tissue engineering of cartilage with BMSCs.</p>

Changes of psychological state and family relationship in process of treatment for depression and anxiety / 上海第二医科大学学报

Objective To investigate the changes of psychological state and family environment of the patients with neurosis (including depression and anxiety) in the process of treatment. Methods The Hamilton depression scale (HAMD), Hamilton anxiety scale(HAMA), self-rating depression scale(SDS), self-rating anxiety scale(SAS), family environment scale(FES), and family adaptability and cohesion scale(FACESⅡ-CV) were used to evaluate the changes of psychological state and family relationship in the process of treatment among patients with depression and anxiety hospitalized in general hospitals (n=45) and their family members (n=45). Results Before intervention, values of HAMD, HAMA, SDS and SAS in patients were higher than normal ones, and were in line with the corresponding diagnostic criteria. After psychological intervention and medication for 2 to 3 months, symptoms such as depression and anxiety were improved significantly, and values of the above scales were within normal ranges. Besides, there was also significant improvement in FES and FACESⅡ-CV after intervention among the patients. All the values of the family members were in the normal ranges before intervention, however, significantly positive changes were observed after intervention. Conclusion With the improvement in depression and anxiety after intervention among patients, the psychological pressure of family members is released, and family relationship is partially restored. The rehabilitation of patients plays an important role in the restoration of family function.

Effect of adeno-BMP7 transfection on osteogenesis of BMSCs / 中华整形外科杂志

<p><b>OBJECTIVE</b>To study the effect of adeno-BMP7 transfection on the biology of bone marrow stromal cells (BMSCs).</p><p><b>METHODS</b>Bone marrow was obtained from the goat. The BMSCs were isolated and cultured at the second passage. Once the cells attached and formed a monolayer with 70%-80% confluency, adeno-BMP7 (M.O.I. = 100) was added to the cells. After three days, calcium node was examined with staining; cell-coral compound was replanted subcutaneously.</p><p><b>RESULTS</b>With adeno-BMP7 transfection, BMP7 expression was detected with Western-blot; big calcium nodes were observed with staining. New bone formation was enhanced, which was evaluated by X-ray and histological examinations.</p><p><b>CONCLUSIONS</b>BMSCs transfected with adeno-BMP7 show much stronger osteogenic ability.</p>

Experimental study of porous TCP to generate tissue-engineered long bone / 生物工程学报

To study bone-forming of a new kind of porous beta-TCP as the scaffold for tissue-engineering, defects at the mid-portion of the left and right ulna were created in dog, the defects were repaired with beta-TCP cylinder coated with BMSCs, and beta-TCP cylinders alone as control. X-rays showed the defects were better bridged by the replant with obscure edge and new bone formed in the canal and at the interface in experimental group after three month of operation, whereas in control group, the replants were obviously deformed into dissociated granule with unequal density with only little new bone formed at the interface. After six month, the defects were bridged by new bone with osteodermatous cavum medullare ossium, but in control group, the defects were bridged by high density in radiography without osteodermatous cavum medullare ossium, the diameter of the ular was obviously less than experimental group. There were significant differences between both groups at month one and two in the development pattern through radionuclide observation. By gross, the diameter of ular was smaller in control group than in experimental at month three, and the replants in control group was difficult to detach from the fibroid tissue around it, but in experimental group, there was much more new bone formation, and the surface was rough for the compound of new bone and beta-TCP undegraded completely. The new bone in experiment had been obviously remodeled at month six, but at this moment, the new bone was of infirmity in volume and form. HE staining of three months demonstrated new bone adhered to the surface on the core of beta-TCP in experimental group, but in control group, at the same place, osteoid was observed with much megacayocytes and capillaries. At month six, beta-TCP disappeared completely with new bone formed in both groups, but the volume and structure of the bone was better in experimental group than in control group. From this study it is concluded that the porous beta-TCP can be combined with BMSCs, and the combination could generate new bone to repair long bone defect.