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OBJECTIVE@#To explore the genetic basis of two fetuses with an osteogenesis imperfecta (OI) phenotype.@*METHODS@#Two fetuses diagnosed at the Affiliated Hospital of Weifang Medical College respectively on June 11, 2021 and October 16, 2021 were selected as the study subjects. Clinical data of the fetuses were collected. Amniotic fluid samples of the fetuses and peripheral blood samples of their pedigree members were collected for the extraction of genomic DNA. Whole exome sequencing (WES) and Sanger sequencing were carried out to identify the candidate variants. Minigene splicing reporter analysis was used to validate the variant which may affect the pre-mRNA splicing.@*RESULTS@#For fetus 1, ultrasonography at 17+6 weeks of gestation had revealed shortening of bilateral humerus and femurs by more than two weeks, in addition with multiple fractures and angular deformities of long bones. WES revealed that fetus 1 had harbored a heterozygous c.3949_3950insGGCATGT (p.N1317Rfs*114) variant in exon 49 of the COL1A1 gene (NM_000088.4). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was classified as a pathogenic variant (PVS1+PS2+PM2_Supporting) for disrupting the downstream open reading frame resulting in premature translational termination, being de novo in origin, and lacking records in the population and disease databases.For fetus 2, ultrasonography at 23 weeks of gestation also revealed shortening of bilateral humerus and femurs by one and four weeks, respectively, in addition with bending of bilateral femurs, tibias and fibulas. Fetus 2 had harbored a heterozygous c.1557+3A>G variant in intron 26 of the COL1A2 gene (NM_000089.4). Minigene experiment showed that it has induced skipping of exon 26 from the COL1A2 mRNA transcript, resulting in an in-frame deletion (c.1504_1557del) of the COL1A2 mRNA transcript. The variant was inherited from its father and had been previously reported in a family with OI type 4. It was therefore classified as a pathogenic variant (PS3+PM1+PM2_Supporting+PP3+PP5).@*CONCLUSION@#The c.3949_3950insGGCATGT (p.N1317Rfs*114) variant in the COL1A1 gene and c.1557+3A>G variant in the COL1A2 gene probably underlay the disease in the two fetuses. Above findings not only have enriched the mutational spectrum of OI, but also shed light on the correlation between its genotype and phenotype and provided a basis for genetic counseling and prenatal diagnosis for the affected pedigrees.
Subject(s)
Pregnancy , Female , Humans , Osteogenesis Imperfecta/genetics , Collagen Type I, alpha 1 Chain , Collagen Type I/genetics , Mutation , FetusABSTRACT
Ommaya reservoir implantation is generally used in the treatment of hydrocephalus and intraventricular drug administration. Ommaya reservoir implantation in the subarachnoid space of the spinal cord for the intrathecal drug administration has not been carried out in China, and only several reports can be retrieved from PubMed. About 60%-90% of untreated patients with spinal muscular atrophy type 2 (SMA2) who survive to adulthood often have complex scoliosis and joint deformities. Nusinersen is an effective drug for the treatment of SMA2. And the route of administration is intrathecal injection, which is difficult for patients with severe scoliosis. This article summarizes the process of Ommaya reservoir implantation and postoperative drug administration in a patient with complex scoliosis type SMA2, which provides a new method for clinical treatment of this disease.
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Objective To analyze the trend of death level and the probability of premature death caused by gastric cancer in Jinshan District, Shanghai from 1980 to 2019, and to provide a basis for formulating prevention and control measures of gastric cancer. Methods The death cases of gastric cancer were collected through the death cause registration system in Jinshan District, and the crude gastric cancer death rate, standardized death rate, age group death rate, premature death probability and annual change percentage were calculated. Results From 1980 to 2019, the crude mortality of gastric cancer in Jinshan District was 22.38/100 000, and the standardized mortality was 13.85/100 000. Over these 40 years, the standardized mortality of gastric cancer showed a downward trend in both males and females (APC=-3.69%, -3.39%, P<0.001). In different periods, the mortality of gastric cancer in all age groups decreased. Over the past 40 years, the probability of premature death caused by gastric cancer showed a downward trend in both males and females (APC=-4.32%, -4.24%, P<0.001), but there was no significant downward trend in the probability of premature death caused by gastric cancer in males and females in the past 10 years. Conclusion Over the past 40 years, the mortality rate and the probability of premature death of gastric cancer in Jinshan District have shown a downward trend. However, gastric cancer is still one of the major malignant tumors that seriously threaten the health of residents in Jinshan District. Comprehensive prevention and treatment measures should be taken to reduce the mortality and the probability of premature death of gastric cancer.
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Objective To understand the awareness status of knowledge on malaria control among residents and students,so as to evaluate the effectiveness of health education during the elimination phase of malaria in Jinshan District ,Shanghai City. Methods In 2010 and 2014,the stratified sampling and cluster sampling methods were taken to select the investigation sites, including 3 villages,1 middle schools,1 primary school,then the residents above 15 years old and the students in the above se?lected sites were investigated by questionnaires to understand their awareness status on malaria control. Results In 2010,the general awareness rates of malaria control knowledge of the study objects were 74.22%,and those of the residents,middle school students,and primary school students were 75.68%,61.86%and 72.20%,respectively. There was no significant differ?ence between the awareness rates of objects with different gender(χ2=1.755,P>0.05). The rate of the residents was higher than that of the students(χ2=59.838,P<0.01). From 2010 to 2014,a series of health education on malaria control was car?ried out. In 2014,the general awareness rate of knowledge on malaria control was 96.03%,and those of the residents,middle school student,and primary school students were 92.28%,98.59%and 99.49%,respectively. The awareness rate of the stu?dents was higher than that of the residents(χ2=275.794,P<0.01). Conclusion Through the health education and communi?ty advocacy,the awareness rates of knowledge on malaria control among residents and students have improved and met the quali?fication of malaria elimination in Jinshan District.
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[ABSTRACT]OBJECTIVETo explore the occurrence and development of nasal polyps by studying the interleukin 17 and vascular endothelial growth factor expression level in nasal polyp tissues.METHODSNasal polyps in 30 patients with chronic sinusitis (with polyps), ethmoid sinus mucosa in 30 patients with chronic sinusitis (without polyps), inferior turbinate mucosa in 10 patients with nasal septum deviation were collected intraoperatively. IL-17 and VEGF expression were detected using immunohistochemistry SP testing, and correlation between them was analysed. RESULTS1. The expression of IL-17 and VEGF in nasal polyps group is significantly higher than that of the other two groups.There was significant difference between each two groups statistically (P<0.01). 2. The expression of IL-17 was positively correlated with VEGF expression in nasal polyps.CONCLUSION1. The expression of IL-17 and VEGF increased in nasal polyp tissues. 2. The expression of IL-17 and VEGFwas positively correlated in nasal polyps , and both of them take part in the occurrence and development of nasal polyps.