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Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary cornification disorder presented with abnormal skin scaling. In this paper, we used next-generation sequencing to determine the variants in a Chinese ARCI patient. We used sanger sequencing to verify bidirectionally the DNA from the proband and her parents. Results showes that two compound heterozygous variants (c.235G > T and c.641delG) in CYP4F22 gene, and both of the mutations are novel. The parents were heterozygous carriers. The two variants are classified as pathogenic variants based on interpretation guidelines. The compound heterozygous mutations in CYP4F22 gene were the causative mutations responsible for ARCI in proband.
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Objective:To compare the clinical efficacy of robot-assisted percutaneous screw implantation and free-hand open screw implantation by Wiltse approach in the treatment of thoracolumbar fracture.Methods:A retrospective cohort study was performed to analyze the clinical data of 71 patients with thoracolumbar fracture admitted to Second Affiliated Hospital of Soochow University from May 2018 to May 2020. There were 52 males and 19 females, with age range of 22-54 years［(41.0±7.8)years］. Of all, 33 patients were treated with robot-assisted percutaneous screw implantation (Group A) and 38 patients were treated with free-hand open screw implantation by Wiltse approach (Group B). Following parameters were measured, including frequency of radiation exposure, operation time, intraoperative blood loss, length of hospital stay, incidence of complications, rate of fracture healing at 3 months and 6 months postoperatively, visual analogue scale (VAS) and Oswestry dysfunction index (ODI) at 3 days, 3 months, 6 months postoperatively and at the last follow-up, anterior vertebral body height ratio and sagittal Cobb angle preoperatively, at 3 days postoperatively and at the last follow-up, and rate of screw implantation of grade A and B and rate of facet joint violation at 3 days postoperatively.Results:All patients were followed up for 10-24 months［(15.2±4.4)months］. Frequency of radiation exposure and operation time showed no statistical differences between the two groups (both P>0.05). Intraoperative blood loss was 100(100, 135)ml in Group A, less than 160(120, 200)ml in Group B ( P<0.01). Length of hospital stay was 8(7, 11) days in Group A, shorter than 12(10, 16)days in Group B ( P<0.01). There were no complications such as infection, spinal nerve injury or cerebrospinal fluid leakage in both group. There were no significant differences between the two groups in the rate of fracture healing at 3 and 6 months postoperatively (all P>0.05). VAS and ODI in Group A was 3(2, 4)points and 21(18, 23)points at 3 days postoperatively, lower than 4 (3, 5)points and 27(20, 32)points in Group B ( P<0.05 or 0.01), and the two groups showed no significant differences in VAS and ODI at other time points (all P>0.05). There were no significant difference in the anterior vertebral body height ratio or sagittal Cobb angle between the two groups at 3 days postoperatively and at the last follow-up (all P>0.05). Rate of screw implantation of grade A and B was 96.5% (191/198) in Group A, higher than 90.4% (206/228) in Group B ( P<0.05). Rate of facet joint violation was 4.0%(8/198) in Group A, lower than 11.8% (27/228) in Group B ( P<0.01). Conclusion:For thoracolumbar fracture, robot-assisted percutaneous screw implantation is superior to free-hand open screw implantation by Wiltse approach in terms of less bleeding, shorter hospitalization, earlier pain alleviation, higher accuracy of screw implantation and lower risk of facet joint violation.
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Objective:To detect the expression of miR-378 in cervical cancer and investigate its effects on the proliferation and invasion of cancer cells as well as the underlying mechanism.Methods:A total of 185 cervical tissue samples of women who received gynecological examination in Qilu Hospital of Shandong University from January 2012 to January 2016 were included in this study. Reverse transcription-quantitative polymerase chain reaction was performed to determine the expression of miR-378 in cervical tissue and C-33A cells. Western blot assay was performed to detect the expression of different cancer genes ATG12, CCND1 and pRb in C-33A cells. BrdU cell proliferation and Transwell invasion assay were performed to determine cell proliferation and invasion. Target Scan was used to predict and screen miR-378 gene targets and verified by a dual-luciferase reporter assay system.Results:The expression of miR-378 in cervical intraepithelial neoplasia (CIN) III lesioned tissue and cervical cancer tissue was significantly higher than that in normal cervical tissues ( F = 103.091, t = 9.381, 8.936, both P < 0.05). The expression of miR-378 in cervical cancer tissues with positive lymph node metastasis was significantly higher than that in cervical cancer tissues with negative lymph node metastasis ( t = 1.007, P < 0.01). The overexpression of miR-378 in cervical cancer tissues significantly promoted the migration and invasion of C-33A cells ( t = 5.285, P < 0.05), while low expression of miR-378 in cervical cancer tissues significantly inhibited the migration and invasion of HeLa cells ( t = 2.941, P < 0.05). The overexpression of miR-378 in C-33A cells significantly decreased the expression of ATG12, CCND1and pRb ( t = 1.382, 1.431 and 2.086, all P < 0.05). The low expression of miR-378 in C-33A cells significantly increased the expression of ATG12, CCND1 and pRb ( t = 3.961, 3.062 and 2.894, all P < 0.05). Conclusion:miR-378 can greatly promote the metastasis of cervical cancer cells. ATG12, as a direct target of miR-378, provides new insights into the molecular mechanism underlying cervical cancer pathology and therapeutic target.
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Cervical cancer is one of the most common malignant tumors of the reproductive system in women.Despite a significant increase in early screening rates and a better preventive effect on the introduction of cervical cancer vaccine, the incidence is still the second highest in female malignant tumors, and gradually tends to young women.The major cause of disease is the persistent infection of the high-risk HPV virus, tumor invasion and metastasis is still a huge obstacle to effective treatment of cervical cancer.Studying the molecular mechanism of the metastasis and invasion of cervical cancer may provide a novel therapeutic target for the treatment of cervical cancer.This paper reviews the relationship between miR-378 and the invasion and metastasis of cervical cancer, in order to provide more effective methods for the prevention and treatment of cervical cancer.
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Due to the particularity of pelvic anatomical structure, intermuscular venous thrombosis of lower extremity is very easy to form after gynecologic surgery.After thrombosis, it can migrate and diffuse, leading to fatal pulmonary embolism or sequelae of thrombosis after organization.Seriously, it will threaten patients' health and quality of life.How to evaluate and diagnose early is especially vital.In this article, the early diagnosis of intermuscular venous thrombosis of lower extremity after gynecologic surgery was summarized.Mainly from the aspects of high risk factors, application of risk assessment scale, clinical manifestations, auxiliary examination and so on., it was briefly analyzed.
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Objective:To prepare compound Xiaoshangtong spray films and establish an HPLC method for quality control. Meth-ods:Chitosan hydrochloride and PVP as the main film-forming materials, and HPMC as the film-forming assitant agent, the com-pound Xiaoshangtong spray films were prepared. Lidocaine and mupirocin were simultaneously determined by HPLC. A Hypersil ODS2 column(250 mm × 4. 6 mm, 5 μm)was used. The mobile phase was composed of 0. 5% ammonium dihydrogen phosphate-methanol (40∶60, adjusting pH to 6. 0 ± 0. 5 with sodium hydroxide). The flow rate of mobile phase was 1. 0 ml·min-1 and the temperature of the column was 30 ℃. The detection wavelength was 222nm and the injection volume was 20 μl. Results: The linear range of lido-caine was 25. 0-400. 0 μg·ml-1(r=0. 999 7) and the average recovery was 100. 14% (RSD=1. 21%,n=9). The linear range of mupirocin was 25.0-400.0 μg·ml-1(r=0.999 9)and the average recovery was 101.13%(RSD=0.57%,n=9). Conclusion:The preparation process is reasonable. The established determination method is accurate and reliable, and suitable for the quality con-trol of the compound Xiaoshangtong spray films.
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Objective This study was designed to investigate the relationship between programmed cell death 5 (PDCD5) and endometrial carcinoma .Methods 60 tissue samples of endometrial carcinomas ,40 normal proliferative endometrium tissues and 28 endometrial atypical hyperplasia tissues were obtained from patients who underwent operation.The expression of PDCD5 was detected by Real-time PCR and immunohistochemical analysis . Results In normal proliferative endometrium , atypical hyperplasia tissues and endometrial carcinoma , the PDCD5 mRNA was gradually decreased[(1.21 ±0.16),(0.83 ±0.07),(0.42 ±0.02),F=5.637,P0.05). Conclusion PDCD5 might become a potential molecular marker of early diagnosis of endometrial carcinoma .
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Objective To explore the clinicopathology characteristics of endometrial adenocarcinoma and non-endometrial adenocarcinoma.Methods The clinical data of 306 patients with endometrioid cancer were analyzed retrospectively.Results The patients with endometrial adenocarcinoma accounted for 90％ of all patients,and the patients with non-endometrial adenocarcinoma accounted for 10％.Compared with the patients with endometrial adenocarcinoma,the average age of the patients with non-endometrial adenocarcinoma was older[(59.32 ± 7.77)years],the constitution ratio of postmenopausal patients was higher(90％),the clinicopathologic stage was later(P =0.000),the grade of histology was higher(P =0.000),the myometrial invasion was deeper(P =0.014).The patients with nonendometrial adenocarcinoma were prone to occur lymph metastasis(P =0.006),and the recurrence rate was higher(P =0.000).Conclusion There is significant defference between endometrial adenocarcinoma and non-endometrial adenocarcinoma,the patients with non-endometrial adenocarcinoma has poor pronosis,and we should pay more attention to it.
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Objective To investigate human papilloma virus(HPV) infection in normal endometrium, atypi-cal hyperplasia of endometrium and endometrial carcinoma. Methods By the nucleic acid hybridization,we detected 28 pairs of endometrial carcinomas, 21 pairs of atypical hyperplasia of endometrium. Normal endometrium from 16 pa-tients with uterine myomas were as control. Results HPV16/18 DNA was detected in 25 endometrial carcinoma and 2 atypical hyperplasia of endometrium and 1 normal endometrium. Conclusions Endometrial carcinoma HPV16/18 DNA were significantly higher than those infected with atypical endometrial hyperplasia and normal endometrium. Note the occurrence of endometrial cancer,the development may be associated with HPV infection.