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OBJECTIVE@#To analyze variants of TSC1 and TSC2 genes in a Chinese patient with tuberous sclerosis complex (TSC).@*METHODS@#Peripheral blood samples were collected from the patient and her parents with informed consent. Following extraction of genomic DNA, potential variants of the TSC1 and TSC2 genes was detected by using targeted capture next-generation sequencing (NGS) and Sanger sequencing.@*RESULTS@#The patient was found to harbor a de novo mosaicism variant c.3295_3298delG (Val1100CysfsTer3) of the TSC2 gene, with the proportion of the mutant allele determined as 13.4%, which was confirmed by Sanger sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.3295_3298delG (Val1100CysfsTer3) variant was predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The mosaicism heterozygous variant of c.3295_3298delG of the TSC2 gene, as detected by both NGS and Sanger sequencing, probably underlay the TSC2 in this patient.
Subject(s)
Female , Humans , Mosaicism , Mutation , Tuberous Sclerosis/genetics , Tuberous Sclerosis Complex 1 Protein/genetics , Tuberous Sclerosis Complex 2 Protein/geneticsABSTRACT
Objective:To investigate the value of prostate biopsy guided by transrectal real-time ultrasonic elastography (TRTE) combined with peak strain index (PSI) in the diagnosis of prostate cancer and the correlation with TRTE score and pathological Gleason score.Methods:A total of 80 patients with suspected prostate cancer who underwent TRTE in the First Affiliated Hospital of Hebei North University from January 2019 to December 2019 were selected. The PSI for suspicious lesions was measured, and targeted puncture biopsy guided by TRTE combined with PSI was performed on the patients, and then followed by systematic puncture biopsy. The outcomes of targeted biopsy and systematic biopsy were analyzed. Taking pathological biopsy results as the gold standard, the detection rates of prostate cancer and benign prostate lesions detected by both biopsies methods were compared; the prostate volume, serum prostate specific antigen (PSA) level and PSI were compared between patients with prostate cancer and benign prostatic lesions. The receiver operating characteristic (ROC) curve and the area under the curve (AUC) were used to determine the best cut-off value of PSI in the diagnosis of prostate cancer. The values of conventional ultrasound versus TRTE combined with PSI in the diagnosis of prostate cancer were assessed. The positive rate of biopsy puncture points under the guidance of TRTE combined with PSI was compared with that of systematic biopsy. The correlation between TRTE score and pathological Gleason score of prostate malignant lesions was analyzed.Results:Among 80 patients, 45 patients (56.25%) were diagnosed as prostate cancer by prostate puncture biopsy, and 35 patients (43.75%) were benign prostate lesions. Among 45 patients with prostate cancer, 42 cases (93.33%) of prostate cancer were detected by using TRTE combined with PSI-guided targeted puncture biopsy, and 38 cases (84.44%) of prostate cancer were detected by using systematic puncture biopsy; there was no significant difference in the detection rate of prostate cancer by both biopsies methods ( χ2 = 1.80, P = 0.180). The level of serum PSA and PSI value in the prostate cancer group were higher than those in the benign prostate lesion group, and the difference was statistically significant ( t value was 65.28 and 14.93, all P < 0.05). The clinical value of PSI value in the diagnosis of prostate cancer was analyzed by using ROC curve. The results showed that the AUC was 0.857 (95% CI 0.772-0.941), and the optimal cut-off value of PSI was 5.68; PSI ≥ 5.68 was treated as the malignant cancer and PSI < 5.68 was treated as the benign cancer. The sensitivity, specificity and accuracy of TRTE combined with PSI in the diagnosis of prostate cancer were 91.11%, 94.29%, and 92.50%, respectively, which were higher than those of conventional ultrasound (73.33%, 68.57% and 71.25%), and the differences were statistically significant (all P < 0.05). A total of 89 suspected lesions were detected in 80 patients through TRTE combined with PSI, and each suspected lesion was detected by using 2-needle targeted puncture biopsy. There were 178 needles in total including 88 needles of prostate cancer and the positive rate of puncture points was 49.44% (88/178); there were 800 needles in total detected by using 10-needle systematic puncture biopsy including 203 needles of prostate cancer and the positive rate of puncture points was 25.38% (203/800); the positive rate of puncture points guided by TRTE combined with PSI puncture biopsy was higher than that by systematic puncture biopsy, and the difference was statistically significant ( χ2 = 40.337, P < 0.05). For prostate malignant lesions, the Spearman correlation analysis showed that TRTE score was positively correlated with pathological Gleason score ( r = 0.618, P < 0.05). Conclusion:TRTE combined with PSI-guided targeted puncture biopsy plays an important role in the diagnosis of prostate cancer, and it can effectively improve the positive rate of puncture points.
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Objective To investigate the effects of sevoflurane post treatment on cerebral ischemia-reperfusion injury in diabetic rats and non-diabetic rats.Methods Thirty-two male SD rats,aged 3.0-3.5 months,weighing 280-320 g,were divided into four groups by random number method (n =8):non diabetic ischemia reperfusion group (group NDC);diabetic ischemia reperfusion group (group DC2);non diabetic ischemia reperfusion group with the sevoflurane post-treatment (group NDS);diabetic ischemia reperfusion group with the sevoflurane post-treatment (group DS).The middle cerebral artery occlusion method and streptozotocin were used to establish the ischemiareperfusion injury model and diabetic model.2 h after ischemia and 24 h after reperfusion,the rats nerve defect scale was detected,the cerebral infarction volume was evaluated by TTC method,and Western blot method was used to detect angiogenin-1 (Ang 1) expression.Results Between the four groups of rats,nerve deficit score and infarct volume were significantly higher,Ang-1 protein relative expression was significantly lower in group DC than those in group NDC (P＜0.05);neural deficit score and infarct volume were significantly lower,Ang-1 protein relative expression was significantly higher in group NDS than those in group NDC (P＜0.05);nerve deficit score and infarct volume were significantly lower,Ang-1 protein relative expression was significantly higher in group DS than those in group DC (P＜0.05).Conclusion In the rats after cerebral ischemia reperfusion,diabetes could aggravate the nerve defect,increase the volume of cerebral infarction,reduce the expression of Ang-1;sevoflurane could reduce nerve defects,reduce infarct volume,increase the expression of Ang-1.The expression of Ang-1 and degree of injury after cerebral ischemia reperfusion in rats have relationship.
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Objective To explore the clinical and genetic characteristics of 17 cases with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Guizhou,China.Methods The clinical features of 17 patients with G6PD deficiency were analyzed,DNA samples were obtained from the patients and some mothers,and the exons and flanking intronic sequences of the G6PD gene were analyzed by the polymerase chain reaction and sequencing.Results The cases had diverse phenotypes,these patients had acute haemolytic anaemia triggered by eating broad beans,infections,ingestion of specific drugs or the neonatal period and chronic nonspherocytic haemolytic anaemia.Three cases of the patients had concomitant diseases for α Mediterranean anemia,acute myeloid leukemia M2 type and neonatal anal membrane stenosis,respectively.G1376T,G1388A and A95G were the commonest G6PD variants in patients in Guizhou,China.G1376T,G1388A and A95G mutations were observed in 82.4％ cases.Two patients had only compound variants(c.1311 C ＞ T,IVS11 nt 93 T ＞ C).One case in the Rongjiang County,Guizhou Province had novel compound variants (c.G1388A,IVS10-10 T ＞ G) in the world.A patient's mother in the Guiyang City,Guizhou Province,China had compound variants (c.1376 G ＞ T,1311 C ＞ T,IVS11 nt 93 T ＞ C) as a carrier.Conclusions G6PD deficiency has a wide range of clinical heterogeneity.A novel G6PD compound variant haplotype c.G1388A,IVS10-10 T ＞ G was first found in the world,and the SNP spectrum of G6PD was enlarged.There may be a G6PD compound variant haplotype c.1376 G ＞ T,1311 C ＞ T,IVS11 nt 93 T ＞ C in Guizhou.
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Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance. The main pathogenesis is homozygous loss and small intragenic mutations of the SMN1. SMN2 ,as a very identical copy of SMN1, modulates the disease severity. The functional difference between both genes is a variance of single nucleotide within the coding region, causing silent mutation obviously to decrease SMN2 transcripts. Histone deacetylase inhibitors have been shown better perspective in clinical trials.
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A total of 154 sera from patients with nasopharyngeal carcinoma(NPC), patients with other head and neck tumors(OHNT) and healthy individuals (HI) from Shaanxi province were tested for IgA antibody to EB viral capsid antigen (VCA-IgA) by immunoenzyrnie method. 75.93% of 54 pretreated NPC patients had VCA-IgA antibody with a GMT of 1: 38. 00,whereas less than 12. 00%of 50 OHNT and 50 HI with a GMT of 1: 2. 5 ～ 1: 3. 35.The results showed that the detection of VCA-IgA was of great value in diagnosis of NPC from low risk areas. The elevated level of VCA-IgA was seen in well-differentiated squamous cell carcinoma which gave a pattern similar to that noted in vacuolar nuclear cell carcinoma or less-differentiated carcinoma, but not in undifferentiated carcinoma. The VCA-IgA positive ratio in NPC patients below 30-year-old was similar to that in OHNT, however the GMT was elevated markedly. The results above showed that VCA-IgA antibody was of little value in diagnosis of NPC below 30-year-old and undifferentiated carcinoma.
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This paper presents 73 cases of primary extranodal lymphomas admitted during 1965～1975, accounting for 14.4% of 507 cases of Iymphomas in this department at the same period. The primary tumors occurring in the extranodal sites or organs were fully proved by histories and physical examinations. There were 11 sites or organs. 70 cases have been treated by various methods, 23 by irradiation alone, 47 cases by the combined therapeupics. The 3-year and 5-year survivas rates were 49.2% and 45.1% respectively The prognosis was poor in those who was younger than 20 years of age. The survival rate in stage Ⅰ and Ⅱ was higher than in stage Ⅲ and Ⅳ. The factors causing fatal outcome were the late stage, and incomplete treatment, inadquate radiation dose and inappropriate chemotherapy.