Objective To study the expression of double-stranded RNA-dependent protein kinase (PKR) in malignant melanoma and ordinary nevi. Methods The expression of PKR and proliferating cell nuclear antigen was examined in 42 cases of malignant melanoma and 25 ordinary nevi by an immunohistochemical method. Results The positive rate of PKR expression was higher in the patients with malignant melanoma than that in the patients with ordinary nevi (P

Objective:To analyze clinicopathological characteristics of trauma-related melanoma and their relationship with the prognosis of patients.Methods:Clinical data were collected from 87 cases of trauma-related melanomas in Department of Dermatology, Xijing Hospital, the Fourth Military Medical University from 2009 to 2020, and their clinicopathological characteristics were retrospectively analyzed. Mann-Whitney test was used to analyze the difference in Breslow thickness of tumors between patients of different ages or genders; Spearman rank correlation analysis was used to analyze the correlation between the time from trauma to the notice of melanoma and Breslow thickness, Kaplan-Meier survival analysis and Log-Rank test were employed to analyze the relationship between clinicopathological characteristics of melanoma and the prognosis of patients; Cox regression model was used to analyze risk factors for survival duration of patients with trauma-related melanoma.Results:Among the 87 patients with trauma-related melanoma, 47 (54.02%) were males and 40 (45.98%) were females. Among them, melanoma occurred in 50 (57.47%) cases after sharp injuries, and in 37 (42.53%) after blunt injuries. In addition, 31 (35.63%) cases presented with primary lesions on the hands, and 48 (55.17%) on the feet. The Breslow thickness of the primary tumors was significantly higher in the group aged > 55 years than in the group aged ≤ 55 years ( U= 623.500, P= 0.010) , but there was no significant difference between patients of different genders ( P= 0.138) . The time from trauma to the notice of melanoma was negatively correlated with the Breslow thickness of tumors ( r=-0.203, P= 0.037) . The age of patients, Breslow thickness of tumors, Ki67 proliferation index and genetic background of tumor significantly affect the survival duration of patients with trauma-related melanoma ( P= 0.011, 0.031, 0.002 and 0.031, respectively) ; the gender, type of trauma and ulceration of tumor mass did not significantly affect the survival duration of patients ( P= 0.618, 0.114 and 0.379, respectively) . Cox regression model analysis showed that the Ki67 proliferation index and Breslow thickness were independent risk factors affecting the prognosis of trauma-related melanoma (risk ratio [ RR] and 95% confidence interval [ CI] were 1.946 (1.234, 4.217) and 1.839 (1.014, 3.332) , P= 0.039 and 0.045, respectively) . Conclusion:The Breslow thickness of trauma-related melanoma is related to the age of patients and time from trauma to the notice of melanoma; the age, Breslow thickness of tumors, Ki67 proliferation index and genetic background of tumor all affect the survival duration of patients with melanoma, and Ki67 proliferation index and Breslow thickness are independent risk factors affecting prognosis.

OBJECTIVETo detect potential mutation in a family affected with congenital dyserythropoietic anemia type II (CDA II).

METHODSTargeted sequence capture and next-generation sequencing (NGS) were used to analyze the exons and exon-intron boundaries of the SEC23B gene in a clinically suspected CDA II patient. Genotypes of the relatives were validated by Sanger sequencing. Potential impact of amino acid substitution on the structure and function of SEC23B protein was predicted with MutationTaster and PolyPhen-2. The protein structure was predicted with SWISS-MODEL software.

RESULTSThe proband was found to harbor double heterozygous mutations of the SEC23B gene, c.1727T>C (p.F576S) and c.1831C>T (p.R611W), which resulted in amino acid substitutions p.F576S and p.R611W. Both mutations were confirmed by Sanger sequencing. The sister of the proband was found to have carried c.1727T>C (p.F576S), while her father and son have carried c.1831C>T (p.R611W) mutation. In addition, the proband was detected to have carried c.211C>T (p.R71X) of the HFE gene, which resulted in substitution of arginine by a stop codon. The impact of above mutations on the structure or function of protein was predicted to be harmful. Splenectomy and iron chelation therapy have achieved effective improvement of anemia and iron overload. Computer simulation suggested that the mutations have altered the 3D structure of the SEC23B protein.

CONCLUSIONThe novel compound mutations of c.1727T>C and c.1831C>T of the SEC23B gene probably underlie the CDA II in the family, and there is a strong correlation between the genotype and phenotype.

Adult ; Anemia, Dyserythropoietic, Congenital ; genetics ; Computer Simulation ; Family ; Female ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Phenotype ; Vesicular Transport Proteins ; genetics

Objective To review the clinical-pathological features, the tendency of incidence over 20 years, the predisposing factors, and the differences between the cases of cutaneous malignant melanoma from two hospitals. Methods A collection of 305 cases diagnosed as cutaneous malignant melanoma, among which 185 cases had complete clinical-pathological data, during 1981-2000 was analyzed. Results Acral malignant melanoma accounted for 63.3%, and the cases associated with congenital small nevi at the primary site accounted for 15.8% of 305 patients. During the period 1981-1990 and 1991-2000, cutaneous malignant melanoma constituted 0.053% and 0.094%, respectively, of all diagnoses with pathological sections, with an growth rate of 3.9% yearly. There was a tendency of the increased lesions located on face and neck, and decreased lesions on acra, over 20 years. Conclusion A rise of diagnosis of cutaneous malignant melanoma has been noticed from two hospitals over 20 years. Acra, especially planta, is the predominant anatomical site of cutaneous malignant melanoma.

Objective:To explore surgical treatment strategies and prognosis of early-stage nail apparatus melanoma.Methods:A total of 115 patients with early-stage nail apparatus melanoma receiving surgical treatment were collected from Department of Dermatology, Xijing Hospital, the Fourth Military Medical University from July 2011 to December 2019, and surgical treatment strategies and outcomes were analyzed retrospectively.Results:According to the modified ABCDEF criteria and clinical manifestations (such as deformation of the nail plate, ulcers, nodules) , 73 patients with early-stage nail apparatus melanoma received extended surgical resection based on the resection principles of melanoma in situ, 22 based on the resection principles of stage I and II melanoma, 20 based on the resection principles of stage I and II melanoma with invasion risks. During the follow-up period of 6 months to 9 years, there was no recurrence of the primary tumors in any patients; no abnormalities were observed by the ultrasound examination of lymph nodes in 101 patients; metastases occurred in 2 patients receiving finger amputation, 1 of whom died; 12 patients were lost to follow-up. Conclusion:To select extended surgical resection strategies for early-stage nail apparatus melanoma based on clinical manifestations, can ensure adequate treatment and preserve the normal function of the extremities to the greatest extent without recurrence of the primary tumors.

Background: Xylazole (Xyl) is a veterinary anesthetic that is structurally and functionally similar to xylazine. However, the effects of Xyl in vitro remain unknown. Objectives: This study aimed to investigate the anesthetic mechanism of Xyl using fetal rat nerve cells treated with Xyl. Methods: Fetal rat nerve cells cultured for seven days were treated with 10, 20, 30, and 40 μg/ mL Xyl for 0, 5, 10, 15, 20, 25, 30, 45, 60, 90, and 120 min. Variations of amino acid neurotransmitters (AANTs), Nitric oxide-Cyclic GMP (NO-cGMP) signaling pathway, and ATPase were evaluated. Results: Xyl decreased the levels of cGMP and NO in nerve cells. Furthermore, Xyl affected the AANT content and Na+ -K+ -ATPase and Ca2+ -Mg2+ -ATPase activity in nerve cells. These findings suggested that Xyl inhibited the NO-cGMP signaling pathway in nerve cells in vitro. Conclusions This study provided new evidence that the anesthetic and analgesic effects of Xyl are related to the inhibition of the NO-cGMP signaling pathway.