ABSTRACT
OBJECTIVE@#To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with hereditary spherocytosis.@*METHODS@#The proband with jaundice and anemia was referred to Yidu Central Hospital of Weifang in May 2021. Peripheral blood samples were collected from six members of the family. Second-generation sequencing was used to screen the pathological mutations, and the clinically significant variant sites were selected. Then the relevant databases were used to analyze the variant sites, and RT-qPCR was used to detect the relative mRNA levels of candidate gene. The structure and function of SPTB protein were analyzed by UniProt and SMART databases.@*RESULTS@#We infer that the SPTB gene copy number variation (CNV) deletion was co-segregated with the phenotype of the patients in this family based on the results of second-generation sequencing (about 700 target genes). The UCSC Genome Browser demonstrated that the deleted region was mainly located in exon2-3 of SPTB gene. The results of RT-qPCR showed that the relative SPTB mRNA levels of all patients were lower than the healthy control. UniProt and SMART databases analysis showed that SPTB protein without CH1 and CH2 domains could not bind to erythrocyte membrane actin.@*CONCLUSION@#The CNV deletion of SPTB gene may be the reason for the hereditary spherocytosis in this family.
Subject(s)
Humans , DNA Copy Number Variations , East Asian People , Mutation , Pedigree , Spectrin/genetics , Spherocytosis, Hereditary/diagnosisABSTRACT
·Chronic dacryocystitis is often seen in middle-aged and old women,especially in menopause. The opening of the obstruction of the nasolacrimal duct is the key to the treatment of chronic dacryocystitis. At present, surgical treatment is the main type of operation. The commonly used methods include the transnasal canthus skin dacryocystorhinostomyandtheendoscopic dacryocystorhinostomy. With the development of technology, the application of laser technology and new lacrimal duct silicon rubber tube makes the clinical treatment of chronic dacryocystitis more perfect. Lacrimal endoscope technology can obtain more intuitive image of lacrimal duct data, to determine the nature, location and degree of obstruction of lacrimal passage and treatment plan is particularly important, is a major breakthrough in the field of diagnosis and treatment of lacrimal duct obstruction,diagnosis and treatment method is currently the most advanced in the field.
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the value of B-cell differentiation markers in prognosis evaluation of 119 patients with primary CNS lymphoma(PCNSL).</p><p><b>METHODS</b>The expressions of BCL-2, BCL-6, CD10 and MUM1/IRF4 protein were determined by immunohistochemistry, and their relationship with the prognosis of primary central nervous system lymphoma was analyzed.</p><p><b>RESULTS</b>Univariate analysis showed that BCL-6 positive means shorter PFS (P=0.047) and OS (P=0.035). Multivariate analysis showed that BCL-6 positive expression was related with shorter PFS (hazard ratio:1.95, 95% CI: 1.22- 3.12, P=0.005), but did not relate with OS (hazard ratio: 1.85, 95% CI: 0.71- 4.80, P=0.21). Classification based on Hans algorithm and expression status of the single B-cell markers BCL-2, CD10 and MUM1/IRF4 did not correlate with prognosis.</p><p><b>CONCLUSION</b>BCL-6 may be an unfavorable prognostic biomarker for PCNSL.</p>