Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report.

BACKGROUND: Porokeratosis is a rare, acquired, or inherited disorder of keratinization. There are numerous clinical types of porokeratosis and they can coexist in one patient and multiple members of an affected family. However, coexistence of disseminated superficial actinic porokeratosis (DSAP) and porokeratosis ptychotropica (Ppt) is rare. CASE SUMMARY: A 45-year-old man presented with long-standing skin lesions. Physical examination identified numerous small, brown 2-mm to 4-mm patches on his face and several hyperkeratotic, verrucous plaques on his trunk and extremities. His father and one of his brothers also had similar lesions for years. Skin biopsies indicated a cornoid lamella in the epidermis. We identified c.155G>A mutation in the mevalonate kinase (MVK) gene, which converted a serine residue to asparagine (p.Ser52Asn) and was causative for porokeratosis in this family. A clinicopathologic diagnosis of DSAP and Ppt with a novel MVK gene mutation was made. The hyperkeratotic plaques on the patient's scrotum were completely removed more than 10 times using a microwave knife. CONCLUSION: An unusual case of DSAP coexisting with Ppt harbored a novel MVK gene mutation also present in the patient's family.

LncRNA UCA1 negatively regulates NF-kB activity in psoriatic keratinocytes through the miR125a-A20 axis.

Psoriasis is one of the most common chronic inflammatory skin diseases that affects approximately 3% of the world's population. Hyper proliferation, infiltration of inflammatory cells and aberrant differentiation of keratinocytes are the three most important characteristics of psoriasis. Previous reports showed that NF-κBis the crucial mediator linking psoriatic keratinocytes and immune cell states through its effects on chemokine and cytokine production. To identify the role of NF-κB in psoriasis, we conducted ELISA assay to detect the activity of NF-κB in lesional skin and nonlesional skin of patients with psoriasis. Mounting evidence suggests that the interaction between long noncoding RNAs (lncRNAs) and microRNAs plays important role in the regulation of the initiation and development of various diseases. In this article, we identified that lncRNA UCA1 was down-regulated in lesional skin of patients with psoriasis. Further studies showed that lncRNA UCA1 could promote the expression of A20 by inhibitingmiR125a, and up-regulated A20 decreased the activity of NF-κB through its ubiquitin editing function. Taken together, we identified and demonstrated that lncRNA UCA1 negatively regulated NF-κB activity in psoriasis through the miR125a-A20 axis.

Atopic Dermatitis-like Graft-versus-host Disease and Lichen Planus-like Graft-versus-host Disease: Alterations in Skin Barrier Function and Related Molecules.

BACKGROUND: Graft-versus-host disease (GVHD) is a common complication of hematopoietic stem cell transplantation. Skin barrier disruption could induce thymic stromal lymphopoietin (TSLP) expression, and the expression of TSLP was increased in lesions of atopic dermatitis (AD)-like GVHD and lichen planus (LP)-like GVHD. This study attempted to investigate the skin barrier function of AD-like GVHD and LP-like GVHD and possible mechanisms. METHODS: Eighteen AD-like GVHD patients, 12 LP-like GVHD patients, and 14 healthy volunteers were enrolled in this study. Skin biopsy was done in five AD-like GVHD patients, eight LP-like GVHD patients, and eight healthy volunteers. The intensity of pruritus was assessed by visual analog scale itch score and detailed pruritus score. Transepidermal water loss (TEWL) was measured using Tewameter® TM 300. Immunohistochemistry was used to observe the expression of loricrin, involucrin, LL37, and human ß-defensins 2 (hBD2) in skin lesions. Western blot analysis was used for analyzing the protein levels of loricrin and involucrin in skin lesions. Real-time polymerase chain reaction was performed to assess the mRNA levels of LL37 and hBD2 in skin lesions. RESULTS: Pruritus score was higher in patients with AD-like GVHD (11.33 ± 5.35) than that of patients with LP-like GVHD (2.58 ± 3.09, P< 0.001). Compared with healthy controls (HCs, 4.52 ± 1.24 g·m-2·h-1), TEWL was increased in AD-like GVHD (26.72 ± 9.02 g·m-2·h-1, P < 0.001) and LP-like GVHD patients (18.78 ± 4.57 g·m-2·h-1, P< 0.001), and expressions of loricrin and involucrin were also increased in skin lesions of AD-like GVHD and LP-like GVHD patients (all P< 0.05). LL37 mRNA expression was decreased in lesions of AD-like GVHD and LP-like GVHD patients (P = 0.005 and P = 0.008, vs. HCs, respectively). hBD2 mRNA expression was increased in skin lesions of AD-like GVHD and LP-like GVHD patients (P = 0.002 and P< 0.001, vs. HCs, respectively). CONCLUSIONS: Skin barrier dysfunction is present in AD-like GVHD and LP-like GVHD. The immunoreactions, but not the congenital defect, are considered to be the primary cause of skin barrier impairment in AD-like GVHD and LP-like GVHD.

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.

BACKGROUND: Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI. METHODS: In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with multiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs. Reticulate pigmentation in the flexures areas resembled Dowling-Degos disease clinically and pathologically. In addition, one of the affected individuals developed anal canal squamous cell carcinoma. Molecular mutation analysis of γ-secretase genes including PSENEN, PSEN1, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing. RESULTS: Two novel mutations of PSENEN gene were identified, including a heterozygous missense mutation c.194T>G (p.L65R) and a splice site mutation c.167-2A>G. CONCLUSIONS: The identification of the two mutations could expand the spectrum of mutations in the γ-secretase genes underlying AI and provide valuable information for further study of genotype-phenotype correlations.

A novel mutation of the KIT gene in a Chinese family with piebaldism.

BACKGROUND: Human piebaldism is a rare autosomal dominant condition characterized by congenital white forelock and depigmented patches of skin, typically on the forehead, anterior trunk and extremities. Mutations in the KIT gene have been proposed to be responsible for the underlying changes in this disorder. The aim of this study was to identify gene mutation in a Chinese family with piebaldism. METHODS: A Chinese family with piebaldism presenting with white forelock and large depigmented skin macules on the abdomen, arms and legs was collected. DNA was isolated from peripheral blood of the family members. The encoding exons with flanking intron regions of the KIT gene were analyzed by polymerase chain reactions (PCR) and direct DNA sequencing. Besides, DNA extracted from 100 ethnically matched population individuals was as controls. RESULTS: A heterozygous missense mutation c.2590T > C was identified in the patients of the family. This mutation converted a serine residue to proline (p.Ser864Pro). The mutation was not found in their unaffected family members or normal controls. CONCLUSION: A novel missense mutation c.2590 T > C was found and it might play a significant role in the piebaldism phenotype in the family.

Clinical results of vagina vasorum lymph node dissection and non-vagina vasorum lymph node dissection in gastric cancer after radical operation / 中华外科杂志

<p><b>OBJECTIVE</b>To evaluate and compare the results of vagina vasorum lymph node dissection (VLND) and non-vagina vasorum lymph node dissection (NVLND) in patients with gastric cancer after radical operation.</p><p><b>METHODS</b>A total of 759 cases of evaluable patients with gastric cancer, operated from June 1994 to April 2005, were retrospectively analyzed. Of which, 627 cases underwent radical gastrectomy: 215 patients received VLND and 412 cases received NVLND. The operation time, intraoperative blood loss, operative complications and survival rate were recorded and compared between the two groups.</p><p><b>RESULTS</b>The 5- and 10-year overall accumulative survival rates of VLND group and NVLND group were 55.4% and 51.2%, 39.1%and 36.8%, respectively (all P < 0.05). No significant differences in intraoperative blood transfusion (loss), operation time, operative complication rate was found between the two groups. The 5- and 10-year accumulative survival in patients with a tumor of phase N0-N2, T2-T4, Ib-IV in VLND groups were all significant higher than those in NVLND group.</p><p><b>CONCLUSIONS</b>VLND is a safe technique in advanced gastric cancer, it dose not prolong operation time or increase operative complications but improves survival.</p>

Metastasis rates of lymph nodes and distribution in advanced gastric cancer and its clinical significance / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To investigate the characteristics of lymph node metastases in advanced gastric cancer and its clinical significance.</p><p><b>METHODS</b>From April 2002 to July 2003, we studied 91 patients with advanced gastric cancer who underwent radical gastrectomy and lymphadenectomy from which specimens were obtained during surgery. Then, collection of dissected lymph node, histopathological and immunohistological studies were performed to detect the lymph node metastasis rates and calculation. In addition, to analyze the relationship between lymph node metastasis rates and tumor diameters, TNM classification, Borrmann analysis, tumor localization and the extent of lymph node resection.</p><p><b>RESULTS</b>Among 91 patients with advanced gastric cancer, lymph node metastases were found in 63 patients (69.2%) with a total collection of 3149 lymph nodes and an average of 34.6 lymph nodes collected per patient. Lymph node metastasis rate was lower in tumor < 3 cm than that in tumor >3 cm. About TNM classification, lymph node metastases in advanced gastric cancer among patients in stage IIIa and stage IV was 100%, with the lymph node metastasis rates varying from 30.3% to 58.4%, which were significantly higher than that among patients in stage I and II (P<0.001). About Borrmann classification, lymph nodes metastasis in advanced gastric cancer among patients in Borrmann type III (79.6%) was higher than other Borrmann types, while in Borrmann type IV with the highest lymph node metastasis rate of 35.3% (P<0.05). Patients undergone lymph node dissection D(3) had higher lymph node metastases among patients and higher lymph node metastasis rate (88.2%, 38.0%) than patients in the D(1) and D(2) (P<0.05). Among 91 patients, 17 patients was found with micrometastasis (18.7%) from which 183 lymph nodes was collected, but no statistically significant difference between tumor location and micrometastasis was found (P>0.05). For tumor localization, lymph node metastases in proximal gastric cancer were more shown in station 1, 2, 3, 5, 7, 8, 9, 12, 13 and 16, with the highest metastasis rate in station 8 (68.1%). Lymph node metastases in middle gastric cancer were more shown in station 1, 3, 7, 12, 13 and 16, with the highest metastasis rate in station 3 (47.6%). Lymph node metastases in distal gastric cancer were more shown in station 1, 2, 3, 5, 6, 12, 13, and 16, with the highest metastasis rate in station 16 (83.3%).</p><p><b>CONCLUSION</b>Metastasis among patients and lymph node metastasis rates are significantly correlated with the severity of gastric malignancy and they may be valuable guideline to evaluate the extension of lymph nodes dissection in gastric cancer.</p>

Risk factors of elderly patients with total gastrectomy for gastric cancer / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To analyze the relative risk factors of elderly patients with total gastrectomy for gastric cancer.</p><p><b>METHODS</b>The risk factors for hospital death and postoperative complications in 131 elderly patients undergoing total gastrectomy for gastric cancer from Aug. 1994 to Aug. 2004 were analyzed retrospectively.</p><p><b>RESULTS</b>The risk factors for hospital death and postoperative complications included coexistent diseases, hemoglobin level less than 80 g/L, albumin level less than 35 g/L, body mass index(BMI) less than 18.5 kg/m (2), intraoperative blood loss more than 1000 ml, operating time longer than 5 h, combined resection of the spleen or pancreas. The relative risks were 1.57, 1.74, 2.97, 4.23, 2.21, 2.28, 3.80 respectively for hospital death, and 1.50, 1.90, 2.38, 2.12, 2.45, 1.66, 3.41 for postoperative complications.</p><p><b>CONCLUSION</b>The risk factors of the elderly patients with total gastrectomy for gastric cancer should be considered carefully during the perioperative period. It can increase the security of the procedure to control these risk factors.</p>

Analysis of long-term results of radical gastrectomy combining splenectomy for gastric cancer / 中华外科杂志

<p><b>OBJECTIVE</b>To analyze the influence of radical excision combining splenectomy on prognosis of the patients with gastric cancer.</p><p><b>METHODS</b>Between June 1994 and March 2004, 692 patients were operated on for gastric cancer and registered into gastric cancer database. Radical excision (D2, D3 or D4) combining splenectomy for gastric cancer was performed in 45 cases. 343 cases were selected simultaneously for comparison according to the resembling rules in sex, age, tumor size, location, serosa invasion, Borrmann type and range of lymph node dissection. Clinicopathological factors affecting lymph node metastasis, patterns of lymph node metastasis, 5-year survival rate after radical excision combined with splenectomy for gastric cancer were compared.</p><p><b>RESULTS</b>Lymph node metastasis rate of splenic hilus was 15.6 percent. Among them, upper, middle and lower domain is 11.5 percent, 33.3 percent and zero respectively. It was significantly different between gastric adenocarcinoma in proximal and body of stomach and that in distal stomach, poor differentiation and adenocarcinoma anaplastic and well and moderately differentiation adenocarcinoma, Borrmann III and IV types and Borrmann I and II types, infiltrated depth in T(3) and T(4) and infiltrated depth in T(1) and T(2), clinical stages III and IV and clinical stages I and II. The average and median survival time between radical gastrectomy only and radical gastrectomy combining splenectomy for gastric cancer at stage I and II patients were significantly different, but at stage III and IV patients not significantly different.</p><p><b>CONCLUSIONS</b>Spleen should be reserved for patients with gastric cancer at stage I and II, and radical excision combining splenectomy could only be performed at stage III and IV patients with cancer infiltrating body and tail of the pancreas, or lymph nodes metastasis in the splenic hilus. Indication of radical excision combining splenectomy for gastric cancer must be further study to clarify its efficacy.</p>

Indications and prognostic analysis of sphincter preservation operation for rectal cancer / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To explore the indications of sphincter preservation operation (SPO) for rectal cancer, and factors influencing selective indications of SPO.</p><p><b>METHODS</b>From April 1994 to April 2004, clinical data of 708 cases with rectal cancer were analyzed retrospectively. The patients received either SPO (SPO group, n=481) or abdominoperineal resection (APR group, n=227). Clinical pathologic parameters and survival rate were compared between the two groups.</p><p><b>RESULTS</b>There were 66 patients with tumor located in sigmoid-rectum borderline, 138 in upper rectum, 195 in middle rectum, 309 in lower rectum. Dixon operation was performed in 449 patients, Bacon operation in 12, and "J" Poch anastomosis in 20 and Hartman operation in 13. There was no differences in sex, ages, liver metastasis, size, depth of invasion and Dukes stages between APR and SPO groups, but there was significant difference in lower bowel obstruction, tumor location, differentiation degree, infiltrated circumference of intestine, lymph node metastasis and radical approaches between the two groups. Radical excision was performed in 660 rectal cancer cases with radical excision rate of 91.5% . SPO was performed in 481 cases with preservation rate of 66.7%, including 135 lower rectal cancer with preservation rate of 43.7%. The operative mortality was 0.4% (3/708), regional recurrence rate was 5.51% (39/708) after operation. The median survival time was (65.0+/- 6.9) months in SPO group and (42.2+/- 5.6) months in APR group (P< 0.01), the 5-year survival rate was 59.3% and 42.3% in SPO and APR group (P< 0.001).</p><p><b>CONCLUSIONS</b>SPO should be considered as primary choice for rectal cancer patients, but it must be ensured that complete radical resection be performed. Indications for SPO in lower rectal cancer depend on tumor location,differentiation degree,and infiltrated circumference of intestine,lymph node metastasis.</p>

Preparation of natural alpha-tocopherol from non-alpha-tocopherols.

Non-alpha-tocopherols are hydroxymethylated and hydrogenated to produce alpha-tocopherol in one pot process by simultaneously reacting with paraformaldehyde and hydrogen in the presence of catalysts of benzenesulfonic acid and 5% Pd/C in an autoclave. Effects of various operation conditions have been studied. The preferable reaction conditions are: temperature 180 degrees C to 200 degrees C, pressure 5.0 MPa, acid concentration 0.5 g/100 ml ethanol, mass ratio of Pd/C to tocopherols 7.1 g/100 g, and reaction time 5.0 h. A product with alpha-tocopherol content of 80% was obtained by using a raw material with a total tocopherols content of 80.54%. The conversion of non-alpha-tocopherols is almost 100%, and the mole yield of alpha-tocopherol is more than 90%.

Clinical values of palliative gastrectomy for late-staged gastric cancer / 中华外科杂志

<p><b>OBJECTIVE</b>To investigate the clinical importance of palliative gastrectomy for late-staged gastric cancer.</p><p><b>METHODS</b>From June 1994 to October 2001, 95 patients with late-staged gastric cancer underwent palliative operation. Clinicopathological and prognostic parameters between 64 patients with palliative gastrectomy (PG group) and 31 patients with unresectable operation (UO group) was compared retrospectively.</p><p><b>RESULTS</b>The age and gender ratios were not different between the two groups. The incidence of large volume (diameter > or = 8 cm), serosal invasion (T(4)) and late TNM stage (IV stage) were significantly higher in the UO group than that in the PG group. There was no difference in peritoneal dissemination, distant lymph node and hepatic metastasis, and tumor location between the two groups. The one- and two-year survival of the patients in the PG group was 48.1% and 23.1%, and significantly better than 13.5% and 0 in the UO group.</p><p><b>CONCLUSIONS</b>Palliative gastrectomy, compared with unresectable operation, can improve the prognosis of the patients with late-staged gastric cancer even with peritoneal dissemination, distant lymph node and hepatic metastasis, and surrounding organ invasion.</p>

Multi-variate regression analysis of clinicopathological characteristics and prognosis of colorectal cancer / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To evaluate the relationship between clinicopathologic features and prognosis of colorectal cancer after surgical treatment.</p><p><b>METHODS</b>The clinical characteristics, pathologic features and survival rate of 761 patients with colorectal cancer after surgical treatment were univariately and multivariately analyzed.</p><p><b>RESULTS</b>The overall 3- and 5-year survival rates of patients with colorectal cancer after surgical treatment were 62.9% and 60.7% with a median survival of 1,825 days. The factors of gross findings, degree of differentiation, infiltration, nodal and distant metastasis and neoplastic intestinal obstruction influenced the survival rate by univariate analysis. The factors of Dukes stage, gross tumor configuration, intramural spread and differentiation degree were available independent prognostic factors through multivariate analysis.</p><p><b>CONCLUSION</b>Dukes stage, as the most important available independent prognostic factor (P < 0.0005), is able to assess the postoperative survival.</p>