Hypospadias is the displacement of the urethral meatus from the tip of the glans to the ventral side of the phallus. During fetal development, SRY, SOX9, WT1, SRD5A2 and AR are important at different stages in the differentiation and development of the male genital system. Mutations in these genes impair masculinization and may be associated with hypospadias. In order to explore these possibilities, we employed polymerase chain reaction and direct sequencing to analyze the coding regions of these five genes in 90 Chinese hypospadias patients. We found a total of 16 different mutations in SRD5A2, AR and WT1 in 24 of these 90 patients. Seven mutations are novel. No mutation was found in SRY or SOX9. SNP V89L found in SRD5A2 was statistically significant between patients and controls. Our results indicated that mutations in SRD5A2, AR and WT1 were associated with hypospadias. In conclusion, mutations are frequently found in genes that control androgen action and metabolism, but are seldom found in genes active in the early phase of sex determination and differentiation. Mutations in AR, SRD5A2 or WT1 seem to be associated not only with hypospadias but also with micropenis.
The aesthetic surgeon may occasionally be consulted by a patient who wishes to discuss what can be done for the scars of self-inflicted wounds on the forearms. These scars are popularly referred to as "hesitation marks" or "suicide gestures." Unlike patients suffering from factitial ulcers or Münchhausen syndrome, these patients will admit to the physician that the scars are the result of self-inflicted wounds. These scars often consist of multiple, parallel, white lines extending up and down the forearms (usually volar surface), with more on the nondominant side. Although the pattern of these scars is apparently what drives these patients to the aesthetic surgeon for relief (because even lay people identify these scars as self-inflicted suicide marks), the authors propose a new and deeper motivation for surgery. Recent experiences with three of these patients resulted in an epiphany that prompted this report. Once the symbolic meaning of these scars was broached, a torrent of thoughts and theories followed. This article will recount these three cases and present a central thesis for this type of self-inflicted injury. A proposal for the proper surgical treatment of this condition will be offered. Uniquely, two of the patients will relate their own stories and propose guidelines and warnings for the aesthetic surgeon.
Hypospadias, one of the most common congenital abnormalities of the male external genitalia with elusive etiology, are caused by a defect in the normal development of the urethra, foreskin and ventral aspect of the penis. Evidences indicate that BMP4 and BMP7, two of those major factors in a signaling cascade involved in controlling the embryonic urethral development, play central roles in the normal development of the urethra, and that HOXA4 and HOXB6 play important roles in the development of skin in various tissues at the time course of the urethral development. We directly sequenced all these exons and exonintron boundaries of the four genes in 90 unrelated Chinese patients with hypospadias. Thirteen different heterozygous nucleotide variations were identified for the first time in the four genes in 14 of 90 cases. Of the 13 variations, eight are missense: c.619C4G (p.H207D), c.668G4A (p.R223H), c.751C4T (p.H251Y) in BMP4; c.907C4T (p.R303C) in BMP7; c.385G4T (p.G129C), c.869C4G (p.S290C) in HOXA4; c.124C4A (p.P42T), c.367T4C (p.C123R) in HOXB6. None of these variations were found in 380 control chromosomes. Amino-acid sequence alignments showed most of these changed amino acids are conserved across various vertebrate species. In a word, these findings, together with the indicated roles of the four genes, imply that it should not be random events for so many nucleotide variations found in the present study. Further functional studies are required to make the associations clear between these variants and hypospadias.
Breast reconstruction after traditional radical mastectomy is particularly challenging for the plastic surgeon. Not only the breast, but subclavian and anterior axillary-fold deformities need to be corrected. An entire TRAM flap (including zone IV) is required, and bipedicled deep inferior epigastric vessels are needed to insure that the entire flap will survive completely. However, on the chest, it is difficult to locate the two suitable sets of recipient vessels for the two pedicles. The thoracodorsal vessels have usually been damaged during axillary dissection or radiation therapy. In the past, the proximal ends of the internal mammary artery and vein (IMA, IMV) have been used as recipient vessels with free flaps, with ligation of the distal ends. These authors have used both the proximal and distal ends of the IMA and IMV as recipient vessels for end-to-end anastomoses to the bipedicled deep inferior epigastric vessels (DIEA, DIEV) in seven clinical cases, with very satisfactory results obtained. Anatomic studies of the IMA and IMV were done in 10 dogs and two active patients, including studying hemodynamic changes at the proximal and distal ends of the IMA, and evaluation of perfusion units in the free bilateral TRAM flap. In the animal experiments, the mean pressure at the distal ends was 86/77 mmHg (left sides) and 87/78 mmHg (right sides); pressure was 63 to 71 percent of the proximal ends (p<0.05). There was no statistically significant difference between the pressures on the left and right sides. In the two patients, and in 5 others, the pressure at the distal ends was 66 and 58 mmHg, which was 75 to 77% of the pressure at the proximal ends. The blood flow at the two anastomotic stomas was similar in a 5-year follow-up. The clinical and experimental studies showed that the distal IMA has reduced perfusion pressure, but that it provides excellent flow and flap perfusion, allowing reliable use of two pedicles for survival of the entire flap.
In Asia, especially in China, women think a dimple is an important part of a beautiful smiling face. The dimple can make them more confident. Unfortunately, not all women have dimples. Hence, with the development of the Chinese economy, there is an increasing demand among Chinese women for the creation of dimples. Most women hope the impairment of the operation will be slight and the period of recovery short so they can go to work as quickly as possible. Some of them want to have dimples only when they smile. The authors have used a new simple technique to form 56 dimples for 36 women. During the operation, they use a syringe needle to guide a monofilament nylon suture through the dermis and the active facial muscles (usually the buccinator). A sling is formed between the skin and the buccinator muscle. The knot is tied, and the dimple is created. After the operation, patients have been satisfied with the shape of the dimples. Furthermore, hematoma and infection never occurred. As a result, on the basis of their experience, the authors conclude that this technique is simple and easy to duplicate. Moreover, this technique has many benefits. For example, with this procedure, it is easy to adjust the bulk of dimples by adjusting the tension of the knot and the amount of dermis tissue the injection needle sutures. Because no tissue is resected, there is mild postoperative swelling. Consequently, patients can return to work or other activities 2 days after the operation.
: The scapular free flap is an ideal flap that achieves satisfactory function and esthetic appearance for penile reconstruction because of its adequate amount of tissue, reliable vascularity, acceptable donor-site morbidity, and reliable blood supply.
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