Relation of polymorphisms of the XPD and GSTM1 genes with susceptibility to hepatocellular carcinoma in Qinghai Tibetans / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To explore the relationship of polymorphisms in the xeroderma pigmentosum group D (XPD) gene and the glutathione-S transferees M1 (GSTM1) gene with susceptibility to primary hepatic carcinoma (PHC) in Tibetans from the Qinghai region.</p><p><b>METHODS</b>This case-control study compared equal groups (n=102 each) of patients with PHC and healthy individuals recruited from Qinghai, Tibet.PCR and denaturing high-performance liquid chromatography (DHPLC) was used to detect each participant's genotypes for the XPD and GSTM1 genes.Non-conditional logistic regression modeling was used in multivariate analysis to evaluate the predictive value for PHC, to compare the risk of different genotypes for PHC, and to assess the risk of gene polymorphisms and environmental factors for PHC.</p><p><b>RESULTS</b>Six factors, including smoking, carnivorous diet, alcohol consumption, hepatitis B virus (HBV) infection, immediate family members with HBV infection and immediate family members with history of PHC, were included in the logistic regression model (alpha =0.05).The XPD751C mutation genotype distribution frequencies were significantly higher in the cases than in the controls (21.6% vs. 10.8%, P=0.036). The risk of PHC increased 2.275 times (95% CI, 1.04-4.98). The frequencies of the GSTM1 genotype were remarkably higher in the cases than in the controls (60.4% vs. 39.6%, P=0.017), suggesting this as an exposure factor. Individuals with the GSTM1 genotype had 1.963 times higher risk of PHC than individuals without the GSTM1 genotype (95% CI, 1.124-3.428). With both the XPD751C mutation and the GSTM1 genotype as exposure factors, the risk incidence increased to 3.030 times (95% CI, 1.165-7.881), indicating that the combined genotypes have a synergistic effect.Application of unconditioned logistic stepwise regression analysis of the genotypes and environmental risk factors showed an interaction between the XPD751C mutation and HBV infection, alcohol consumption and immediate family members with history of PHC. In addition, an interaction between the GSTM1 genotype and HBV infection was found.</p><p><b>CONCLUSION</b>Alcohol consumption, HBV infection and the presence of immediate family members with HBV infection are the main environmental risk factors of PHC in Qinghai Tibetans.Qinghai Tibetans who carry the XPD751C gene mutation and the GSTM 1 genotype are at increased risk of PHC, compared to individuals carrying only one or the other.The XPD751C mutation may increase risk of PHC when combined with the environmental factors.</p>

Congenital symbrachydactyly: outcomes of surgical treatment in 120 webs / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Symbrachydactyly is defined as a combination of short fingers with syndactyly. There are few published reports estimating the incidence of symbrachydactyly. The aim of this study was to investigate the clinical features and the outcome of surgical treatment for congenital symbrachydactyly.</p><p><b>METHODS</b>One hundred and twenty webs of thirty-four patients of symbrachydactyly were involved in the study. The sex ratio was 21 males/13 females. The age ranged from 1 year to 8 years, average 2.6 years. Four cases had both hands involved and 30 patients had one hand involvement. Release of the syndactylous digits webs were completed by one surgical procedure in 14 cases and more than one surgical procedure in 20 cases; 3 to 6 months between the procedures. In the meantime, some of the associated hand deformities were treated.</p><p><b>RESULTS</b>Postoperative follow-up time was 10 to 18 months, average 12 months. All the fingers involved in this study were separated successfully. However, 6 fingers had scar tissue contracture and 8 had web scar adhesion. All complications needed further surgical treatment. Parents of 94.1% of the patients were satisfied with the overall function of the hand, and 76.5% were satisfied with the cosmetic appearance of hand.</p><p><b>CONCLUSIONS</b>The combination of syndactyly and brachydactyly is the main clinical feature in symbrachydactyly. Separation of the digital webs can greatly improve the function of the hand. However, more work needs to be done to improve the cosmetic appearance of the hand.</p>

Clinical analysis of 73 cases of macrodactyly / 中华外科杂志

<p><b>OBJECTIVE</b>To analyze the clinical characteristics of 73 cases of macrodactyly.</p><p><b>METHODS</b>Review the incidence, distribution, characteristic, X-rays, pathogenesis and treatment of involved digits on the base of the clinical documents of 73 macrodactyly which were treated from 1965 to 2006. Twenty-eight cases had been followed-up.</p><p><b>RESULTS</b>Unilateral involved 71 cases, bilateral involved 2 cases. In upper deformities, the most involved digit was the index finger, followed by thumb and middle finger enlargement. In lower deformities, the second toes were affected more. There were 12 cases of static macrodactyly, which were all presented at or soon after birth. Sixty-one cases were progressive macrodactyly: 39 cases presented at birth; 17 cases occurred at about 2 years old; 5 cases were found after age 2. Thirty-seven cases of progressive type presented digital deviation; 3 cases associated with syndactyly; 16 cases complicated with thenar eminence hypertrophy; 8 cases of multiple-digit involved combined with palm and forearm hyperplasia.</p><p><b>CONCLUSIONS</b>Macrodactyly in hand has a preference for the median nerve territory, mainly involving index, thumb and middle finger. Pedal macrodactyly prefers medial plantar nerve territory, the second toe is the most commonly affected. The progressive macrodactyly is more common than static. It may present at birth and combine with syndactyly, digital deviation, thenar eminence hypertrophy, palm and forearm hyperplasia.</p>

Digital gigantism of the foot: a clinical study of 12 cases / 中华外科杂志

<p><b>OBJECTIVE</b>To summarize the clinical characteristic and outcome of digital gigantism of the foot.</p><p><b>METHODS</b>Retrospectively analyze the clinical documents of cases of digital gigantism of the foot. Twelve 12 cases with 13 feet in this study included 8 male and 4 female with an average 4.6-years-old. All the deformities were found at birth. Multiple toes involved were more than single toe, and tibial toe involved more than fibular. Forefoot was enlarged. All the phalanges involved and partial metatarsal bones were enlarged. Marked increase in subcutaneous fat was found in all cases in the operation which infiltrated interossei and articular capsules. The appearance of the nerves and its branches in the foot were normal and fat infiltrating was not discovered. The operation types included debulking, epiphyseal arrest, amputation, nerve stripping and anastomosis.</p><p><b>RESULTS</b>Seven cases were followed up with mean periods 25.6 months. Functional evaluation according to a criterion formulated by author revealed a result of 2 excellent, 2 good and 3 fair.</p><p><b>CONCLUSIONS</b>Digital gigantism of the foot is an uncommon congenital deformity of the foot characterized by overgrowth of both the soft-tissue and the osseous elements of the enlarged toe and forefoot. Surgical treatment is the unique method, and the goal is to reduce the size of the foot to allow fitting regular shoes and walking readily. There are several types of operations which to be chosen. The indication, the timing of operative intervention and the selection of operation type should be paid more attention.</p>

Repair of postburn hand using scarred skin and an abdominal flap in patients with severe burns / 中华整形外科杂志

<p><b>OBJECTIVE</b>To introduce a method for repairing and restoring hand function of the patients suffering from large surface area burn with scarce normal skin for reconstruction.</p><p><b>METHODS</b>Seven patients (ten hands) were treated in our department from April 1994 to February 2001. The TBSA involved with second- or third-degree burns was 85%-96%. All the hands had severe scar contracture on the dorsum and lost most of their function. A scarred skin flap, based on the ulnar border of the hand was elevated integrally on the dorsum. A random-pattern abdominal flap at a less-scarred area was designed and elevated to cover the defect of the hand while the scarred skin flap of the hand was transferred to the donor site of the abdominal flap.</p><p><b>RESULTS</b>All patients were followed for 0.5 to 4 years postoperatively. The range of motion of the metacarpophalangeal joint and the space capacity of the first web were greatly improved. All patients regained self-care ability.</p><p><b>CONCLUSIONS</b>This method is simple and has satisfactory results. Under the circumstances where normal skin was not available for reconstruction, the function of the burned hand could be greatly improved by this method.</p>