In order to assess whether there is any abnormality in oncogene expression in hypoxia induced pulmonary hypertension, the expression of oncogene erbB in the lung tissue of rats with and without hypoxia was detected by in situ hybridization with digoxingenin as a prob label. The results showed that there was a slight expression of erbB mRNA in control normoxic rats. After hypoxia for 7 to 21 days, its expression increased significantly as compared with that in control (P

Abstract: Objective　To explore the diagnostic value and advantage of metagenomic next-generation sequencing (mNGS) in the diagnosis of Strongyloidiasis co-infected with other pathogens. Methods　According to the inclusion and exclusion criteria, the clinical data of 5 patients diagnosed with Strongyloides stercoralis in Sun Yat-sen Memorial Hospital, Sun Yat-sen University from November 2020 to October 2022 were retrospectively collected. The clinical characteristics of the patients were analyzed, and the positive rates of Strongyloides stercoralis in 6 samples from 5 patients were compared by using mNGS and liquid-based cytology microscopy, and the detection rates of Strongyloides stercoralis eggs in the feces of 5 patients were compared by using the fecal direct smear method. The consistency between mNGS and bacterial and fungal culture results of the 6 samples was analyzed and compared. Results　Three of the 5 patients were farmers. All 5 patients had underlying diseases, with fever and cough as the main clinical manifestations, and the imaging features were mostly glass shadow and density shadow. Blood routine examination showed an increase in the percentage of neutrophils in 4 of the 5 patients, and none of the 5 patients had an increase in eosinophils. Procalcitonin levels were elevated in all five patients. Among the 6 samples from the 5 patients, the detection rate of Strongyloides stercoralis detection by mNGS was 100%, and the detection rate of liquid-based cytology was 50%. The detection rate of Strongyloides stercoralis eggs using the direct fecal smear method was 20% in 5 patients. Among the 6 samples, Human betaherpesvirus 5 was detected by mNGS, and Pneumocystis jirovecii was detected in 3 samples, Aspergillus fumigates was detected in 3 samples, and Pseudomonas aeruginosa was detected in 2 samples. Except for Strongyloides stercoralis and viruses detected by mNGS, the results of routine culture were completely consistent with those of bacteria and fungi detected by mNGS in 1 sample, inconsistent in 2 samples, and partially consistent in 3 samples. Conclusions　The detection rate of Strongyloides stercoralis by mNGS may be higher than that by fecal direct smear and liquid-based cytology. Compared to conventional bacterial and fungal cultures, mNGS has a wide detection range and may be more suitable for the detection of Strongyloides stercoralis infection co-infected with other pathogens. It presents significant diagnostic advantages for mixed infections and may be used as an early diagnosis method for Strongyloides stercoralis infection.

OBJECTIVE: To detect pathogenic variant in a juvenile with severe type Cornelia de Lange syndrome (CdLS). METHODS: A 12-year-old female presented with comprehensive developmental retardation and deformity of lower limbs. Genomic DNA was extracted from peripheral blood sample of the patient. Whole exome sequencing was performed to identify pathogenic variants. Putative variant was verified by Sanger sequencing. The impact of variants was predicted and validated by bioinformatic analysis. RESULTS: A de novo missense variant, c.1507A>G (p. Lys503Glu), was found in the NIPBL gene of the proband. The variant was unreported previously and predicted to be pathogenic by PolyPhen-2, MutationTaster and SIFT. Using HomoloGene system, the 503 loci in the NIPBL protein are highly conserved. The change of amino acid (Glu), locating in 503 locus, was found to cause the Neuromodulin_N superfamily domain destroyed, resulting in severe damage to the function of NIPBL protein. CONCLUSION The de novo missense variant c.1507A>G (p. Lys503Glu) of the NIPBL gene probably underlies the disease in this patient.
Cell Cycle Proteins ; genetics ; Child ; De Lange Syndrome ; genetics ; Developmental Disabilities ; genetics ; Female ; Humans ; Mutation, Missense ; Phenotype

The high-throughput sequencing (NGS) method has been widely used in clinical diagnosis and treatment due to its ability to simultaneously analyze multiple samples, genes and variation types with a single test when compared to some traditional methods. In addition to providing important information for clinical diagnosis and treatment, a large amount of information with clinical research value can be digged. On the other hand, further basic research and targeted therapy promoted a new way of treating cancer patients, which is currently named as precision medicine (PM). In cancer care, this means custom treatments to each patient′s features and each cancer genomic alterations. With this conception, the use of NGS and the consequent availability of large-scale human genome databases have created an opportunity for significant onward movement of cancer diagnosis and therapy. We here discuss the applications of NGS in cancer care, under a"personalized tailored therapy"perspective.

OBJECTIVE: To analyze pathogenic variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome (OCNS). METHODS: The 8-year-old boy presented with growth retardation, intellectual disability and spells of breath holding. With genomic DNA extracted from peripheral blood samples of the patient and his parents, whole exome sequencing was carried out. Putative pathogenic variants were verified with Sanger sequencing. The nature and impact of detected variants were predicted through bioinformatic analysis. RESULTS: A novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene was identified, which was unreported previously. The variant was predicted to be pathogenic by PolyPhen-2, Mutation Taster and SIFT software. Based on a HomoloGene system, 50 loci within the CK2alpha protein are highly conserved. The change of amino acid (Cys) at position 50 has destroyed the ATP binding loop domain, causing serious damage to its function. As predicted by a Swiss PDB viewer, the variant can significantly alter the spatial structure of CK2alpha, resulting in loss of protein function. CONCLUSION The patient's condition may be attributed to the novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene.

Purpose To analyze the morphological charac-teristics of papillary thyroid carcinoma(PTC)patients with NTRK gene fusion in order to provide more important morpholog-ic evidences for molecular detection.Methods A retrospective collection of 790 cases PTC was conducted.Then the patients with NTRK gene fusion were selected.The histopathological fea-tures of PTC patients with NTRK gene fusion were compared with those of classical PTC.Results Nine cases(1.1%)of NTRK fusion positive PTC were detected,including 2 cases of NTRK1 and 7 cases of NTRK3 gene fusion.The main his-topathological features were follicular subtypes,with tumors ex-hibiting multinodular infiltration or"jumping"infiltration.The cytoplasm was associated with hyaline change.The cell morphol-ogy was slight irregularity.Conclusion The incidence of NTRK fusion is low in PTC and it tends to occur in the young group.Follicular subtype is the main characteristic histopatholo-gy,with mild tumor cells.But the ability of the invasion and metastasis is strong.Therefore,NGS detection should be per-formed for early intervention and prolonging the survival of PTC patients.