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.

Repair and functional reconstruction of the penis (a report of 62 cases) / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the effects of surgery treatment on serious penile lesions and malformation.</p><p><b>METHODS</b>Sixty-two patients, aged from 19 to 63 years old (mean 35 ys), were included in the study. Among them, 4 patients suffered from penis partial defection were respectively treated with restoring defective penis, penis lengthening and urethroplasty; three patients with penis completely missing were treated with penis reconstruction surgery; 22 cases with serious penile curvature were treated with the 16-dot plication technique (Lue's procedure); 15 cases with penile fracture were treated with conservative treatment for 1 case and with patch penis, corpus spongiosum, and deep penile dorsal vein ligation for 14 cases; 5 cases with post-operative complications of 3-pieces of penile prosthesis, including the prosthesis perforating to the urethra, water pump failure, broken connection tube, erection angle < 60 degrees and failure to expansion the corpus cavernosum, were treated by taking out prostheses, urethral repair cracks, replacement of the prostheses, excision of fibrosis scar and re-implantation prostheses respectively. Four cases with penis complete amputation were treated with the penis replantation; three cases of avulsion injury were treated with the replantation and free flap skin; 6 with Paget's disease of penises were treated with the lesion free skin buried in the scrotum and penis.</p><p><b>RESULTS</b>All these patients were followed up for 3 months to 4 years, with the average of 9 months. Among the 4 cases of penis partial defection, 2 patients were satisfied with the penile appearance and sexual function; 1 got some satisfactory and 1 was unsatisfied. Three cases with the loss of the penis completely were satisfied with both the postoperative appearance and urination, and 1 was not satisfied. Twenty-two cases of penile curvature deformities were corrected, and one case was recurrence. Fourteen of the 15 patients with penile fracture were followed, and all got the restoration of sexual function. Among them, 5 cases with post-operative complications, including mild bending, algopareunia, subcutaneous induration, poor hardness and poor sexual pleasure, were not further treated, and another case lost; Five cases with post-operative complications of three-pieces penile prosthesis were treated successfully, and 4 of their spouses were satisfied with their sexual function after operation, only 1 of their spouse not satisfied. Among four cases with complete amputation of penis, two cases of penis were replanted successfully while two necrosis. Three cases with avulsion were treated with skin grafting successfully. All 6 cases with penile Paget's disease were followed for 2 -4 years, and free skin grafts were all survival. One patient died of brain metastases 18 months after operation and five cases were disease-free survival.</p><p><b>CONCLUSION</b>The patients should be treated based on the procedure of andrological and urological surgery, together with microsurgical, flap or skin graft technique. The urologist should design personalized surgical procedure. Most of the patient's penis shape and erectile dysfunction can be reconstructed by our procedures, but some patients can not achieve the desired appearance or function of penis. New approaches of the treatment ought to be developed to restore both of the shape and function for those severe injury of the penis.</p>

Experimental study of gene therapy with human vascular endothelial growth factor-c in lymphedema / 中华整形外科杂志

<p><b>OBJECTIVE</b>To study the efficacy of gene therapy with human vascular endothelial growth factor-c (VEGF-C) on obstructive lymphedema.</p><p><b>METHODS</b>Two animal models of lymphedema were created: one in the right hind limb of adult New Zealand white rabbits and the other in SD mouse tail. Each model was randomly divided into two groups to receive intradermal injection of either VEGF-C gene (experimental group), or saline(control group). In rabbit model, the volume change of affected limb was measured. In mouse model, biopsy was performed after 3 weeks treatment to detect the expression of VEGF-C mRNA and proteins. The lymphagenesis was evaluated by immunohistochemical examination with lymphatic endothelium hyaluronan receptor antibody.</p><p><b>RESULTS</b>The volume of the affect rabbit limb decreased by (24.40 +/- 1.08) ml in experimental group, compared with (5.80 +/- 1.92) ml in control group (P = 0.0001). The expression of VEGF-C mRNA and protein increased markedly in experiment group, but not in controls. More lymphatic vessels with large caliber were seen in experiment group (P = 0.0004).</p><p><b>CONCLUSIONS</b>VEGF-C gene therapy may alleviate or treat lymphedema by inducing lyphmangiogenesis.</p>

Reconstruction of extended skin defect after the radical resection procedure for penile scrotum skin cancer / 中华外科杂志

<p><b>OBJECTIVES</b>To investigate the reconstruction of skin defect after extended resection of malignant skin tumor in or adjacent to the genitals, and to investigate the recovery of the function of urinary system and sexual intercourse after the operation.</p><p><b>METHODS</b>From February 1998 to August 2006, 17 patients with carcinoma of sweat gland or Paget's disease in or adjacent to the genitals were given standard radical resections including groin lymph node dissections. The deformation of penis were corrected with the split-thickness skin grafts.</p><p><b>RESULTS</b>A large split-thickness skin to cover the wound gave a good result. More than 95% of the skin survived, and the shape and function were perfect.</p><p><b>CONCLUSIONS</b>It is a simple and easy way to repair the skin defect. And the patients have a normal shape and function of genitals. The erectile function and the ability of sexual intercourse is good.</p>

Reconstruction of nasal defects using a reverse preauricular flap by microsurgical technique / 中华整形外科杂志

<p><b>OBJECTIVE</b>This article reports the design and application of a free reverse preauricular flap for one-stage reconstruction of nasal defects.</p><p><b>METHODS</b>A preauricular flap was designed according to the nasal defect, which was harvested with the reverse superficial temporal vessels as its vascular pedicle. The flap size ranged from 3.0 cm x 2.5 cm to 6 cm x 2 cm without any hair-bearing skin. In flap transferring, its pedicle of the superficial temporal vessels was anastomosed with the facial vessels in the nasolabial fold.</p><p><b>RESULTS</b>The flap survived uneventfully in these three patients. The defects in the distal nose were reconstructed with satisfactory results. The donor site scar was similar to that of face-lift incision.</p><p><b>CONCLUSIONS</b>This is the first report of clinical applications of the free reverse preauricular flap by microsurgical technique. Microsurgical technique allows successful transfer of this flap in a one-stage procedure. Because of its similar color and texture to the facial skin, this flap provides excellent tissues for coverage of the nasal defect. This technique may have even wider applications for other facial cutaneous defects.</p>

Treatment of primary lower limb lymphedema with ultrasonic assisted liposuction / 中华整形外科杂志

<p><b>OBJECTIVE</b>To observe treatment effects of primary lower limb lymphedema using ultrasonic assisted liposuction.</p><p><b>METHODS</b>Internal ultrasonic liposculpture system combined postoperative continual elastic stockings or bandages were used for reducing lymphatic burdens of the affected limbs by partly removal of lymphedematous tissues.</p><p><b>RESULTS</b>Edema regression in the affected limbs were obvious at 2 weeks postoperative and kept to stable without recurrence during 1 year follow-up.</p><p><b>CONCLUSIONS</b>Ultrasonic assisted liposuction combined with elastic compression is safe and effective for the treatment of primary limb lymphedema.</p>

Microvascular nasal repair using a reversed superficial temporal artery auricular flap / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>A reversed superficial temporal artery auricular flap was presented to explore a new method for reconstructing the defects of the distal nose by microsurgical techniques.</p><p><b>METHODS</b>A reversed superficial temporal artery auricular flap had been used on fifteen patients with nasal defects, including thirteen patients with alar defects and two patients with nasal tip defects. The reversed superficial temporal vessels of the flap were anastomosed with the recipient facial vessels. The size of the flap was 2.5 cm x 2. 0 cm - 4.0 cm x 2.5 cm, the length of the vascular pedicle was 5 - 8 cm, average 6.5 cm</p><p><b>RESULTS</b>The flap survived uneventfully in all fifteen patients.</p><p><b>RESULTS</b>demonstrated satisfactory symmetry between the reconstructed ala and the contralateral side as well as an excellent tip projection. The donor-site defect was minimal.</p><p><b>CONCLUSIONS</b>The reversed superficial temporal artery auricular flap offers an adequate length of vascular pedicle of the flap, it delivers a good solution to the problem of the vascular pedicle shortage of the proximal superficial artery auricular flap. This technique may become the top choice in the microvascular auricular transfer.</p>

The surgical treatment of severely injured vagina / 中华整形外科杂志

<p><b>OBJECTIVE</b>To investigate the surgical methods of treating severely injured vagina.</p><p><b>METHODS</b>A retrospective study was carried out on the clinical materials and results of 7 patients suffered from severe vaginal injury.</p><p><b>RESULTS</b>Different surgical approaches such as trans-suprapubic, transperineal or both approaches were applied according to the position of the atresia, meanwhile, different surgical methods such as skin graft, free flap transplantation, vaginal mucous flap advancement, direct anastomosis of the two ends, "Z" plasty was used to repair the vagina according to the different defect of the vagina, except for 1 case complicated with vaginorectus fistula, all the other cases were achieved satisfactory results.</p><p><b>CONCLUSIONS</b>The accurate judgment of the severity of the vaginal injury and the understanding of the changed anatomy around the injured vagina was the key points to the success of the surgical treatment of traumatic vaginal atresia.</p>

Repair and functional reconstruction for compound defects of proximal phalanx and dorsal skin at multiple digits / 中华创伤骨科杂志

Objective To summarize our surgical experience in repair and functional reconstruction for compound defects of proximal phalanx and dorsal skin at multiple digits,Methods Six patients with multiple digital defects were treated in our department between June 1996 and March 2005.At the first stage,free iliac bone grafts were used to repair defects of proximal phalanges and temporary syndactyly between adjacent affected fingers was created through digital palmar skin sutures.The defects were covered with free flap transfer finally.Dorsalis pedis flaps were used in four patients,a lateral arm flap in one and a lateral thoracic flap in one respectively.At the second stage,a partial debulking procedure and division of syndaetyty followed three to six months later.Additional procedures were performed in three eases to reconstruct the digital extensor function through tendon transfer.The follow-ups ranged from six months to nine years.Results The flaps survived uneventfully in the six patients postoperatively.The dorsal aspects of reconstructed fingers demonstrated an aesthetically pleasing effect after the flap debulking procedures and division of syndactyly.Follow-up X-Ray examinations showed good lilac bone union and nearly normal structure of digital bone.The distal interphalangeal extension restored to normal in the three cases after extensor reconstruction.Conclusions Iliac bone graft to repair phalangeal defects and free flap transplantation to cover skin defects can be a good treatment for compound defects of proximal phalanx and dorsal skin at multiple digits.Secondary plastic procedure may greatly improve the appearance of a reconstructed digit,and extensor re- construction the function of distal interphalangeal extension too.