Study on pathogenic genes of dwarfism disease by next-generation sequencing

paythelady.612 shared this article with you from Inoreader Study on pathogenic genes of dwarfism disease by next-generation sequencing Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Mar 6;9(7):1600-1609. doi: 10.12998/wjcc.v9.i7.1600. ABSTRACT BACKGROUND: There are many factors that lead to dwarfism, and the mechanism has not yet been elucidated. Next-generation sequencing may identify candidate-related gene mutations, which may clarify the molecular cause. AIM: To analyze genetic variation by using a constructed panel related to dwarfism by utilizing next-generation sequencing platform sequencing analysis to screen candidate-related gene mutations. METHODS: Physical and laboratory characteristics, including clinical examination, growth hormone drug challenge test, serum insulin-like growth factor-1 (IGF-1), IGF binding protein 3, other related tests, imaging examination, and chromosome karyotyping, were analyzed. Next-generation sequencing was performed to analyze pathogenicity variability. RESULTS: In the 39 dwarfism patients, 10 had pathogenicity variability. Gene vari ation was found in the OBSL1, SLC26A2, PTPN11, COL27AI, HDAC6, CUL7, FGFR3, DYNC2H1, GH1, and ATP7B genes. Of the 10 patients with pathogenicity variability, the related physical characteristics included double breast development and growth hormone deficiency, enuresis and indirect inguinal hernia on the left, two finger distance of 70.2 cm, head circumference of 49.2 cm, ischium/lower body length of 1.8 cm, weak limb muscles, and partial growth hormone deficiency. After 6 mo of growth hormone therapy, the concentrations of IGF-1 and IGF binding protein 3 increased from 215.2 ± 170.3 to 285.0 ± 166.0 and 3.9 ± 1.4 to 4.2 ± 1.1, respectively. CONCLUSION: OBSL1, SLC26A2, PTPN11, COL27AI, HDAC6, CUL7, FGFR3, DYNC2H1, GH1, and ATP7B genes may be related to the incidence of dwarfism, and more research needs to be performed to elucidate the mechanism. PMID:33728303 | PMC:PMC7942040 | DOI:10.12998/wjcc.v9.i7.1600 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Solid pseudopapillary neoplasm-diagnostic approach and post-surgical follow up: Three case reports and review of literature

paythelady.612 shared this article with you from Inoreader Solid pseudopapillary neoplasm-diagnostic approach and post-surgical follow up: Three case reports and review of literature Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Mar 6;9(7):1682-1695. doi: 10.12998/wjcc.v9.i7.1682. ABSTRACT BACKGROUND: Solid pseudopapillary neoplasm (SPN) is a rare tumor that was first described by Frantz in 1959. Although this tumor is benign, some may have malignant potential that can be predicted based on demographics, imaging characteristics, and pathologic evaluation. This case series presents 3 SPN cases with discussion on gender differences, preoperative predictors of malignancy, and a suggested algorithm for diagnostic approach as well as post-surgical follow up. CASE SUMMARY: Three adult patients in a tertiary hospital found to have SPN, one elderly male and two young females. Each of the cases presented with abdominal pain and were discovered incidentally. Two cases underwent endoscopic ultrasound with fine needle aspiration and biopsy to assess tumor markers and immuno-histochemical staining (which were consistent with SPN before underg oing surgery), and one case underwent surgery directly after imaging. The average tumor size was 5 cm. Diagnosis was confirmed by histology. Two patients had post-surgical complications requiring intervention. CONCLUSION: Demographic and imaging characteristics can be sufficient to establish diagnosis for SPN, while malignant cases require pre-operative evaluation with endoscopic ultrasound fine needle aspiration/fine needle biopsy. PMID:33728313 | PMC:PMC7942041 | DOI:10.12998/wjcc.v9.i7.1682 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Elevated soluble 4-1BB is associated with serum markers of hepatitis B virus in patients with chronic hepatitis B

paythelady.612 shared this article with you from Inoreader Elevated soluble 4-1BB is associated with serum markers of hepatitis B virus in patients with chronic hepatitis B Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Mar 6;9(7):1619-1630. doi: 10.12998/wjcc.v9.i7.1619. ABSTRACT BACKGROUND: Previous studies have suggested that the costimulatory molecule 4-1BB plays pivotal roles in regulating immunity during chronic viral infection. However, up to now, there are few studies about 4-1BB in chronic hepatitis B (CHB). AIM: To clarify this issue, we report our comprehensive study results on the expression levels of 4-1BB in patients with CHB. METHODS: From September 2018 to June 2019, a total of 64 patients with CHB were recruited from the Department of Hepatology, The First Hospital of Jilin University. Peripheral blood samples were collected from 52 treatment-naïve and 12 entecavir-treated patients with CHB as well as 37 healthy donors (including 24 healthy adults and 13 healthy children). The levels of soluble 4-1BB (s4-1BB) in plasma were measured by ELISA. 4-1BB mRNA expression in peripheral blood mononuclear c ells was detected by real-time quantitative PCR. RESULTS: The s4-1BB levels in the plasma of patients with CHB were significantly higher than those in healthy adults (94.390 ± 7.393 ng/mL vs 8.875 ± 0.914 ng/mL, P < 0.001). In addition, the s4-1BB level in plasma was significantly increased in patients with a higher viral load and a disease flare up. However, there were no significant differences between treatment-naïve and entecavir-treated patients. Interestingly, among treatment-naïve patients with CHB, the levels of s4-1BB in plasma had a significant positive correlation with hepatitis B surface antigen, hepatitis B virus DNA, hepatitis B e antigen, and triglyceride levels (r = 0.748, P < 0.001; r = 0.406, P = 0.004; r = 0.356, P = 0.019 and r = -0.469, P = 0.007, respectively). The 4-1BB mRNA expression was higher in the peripheral blood mononuclear cells of patients with CHB than in the perip heral blood mononuclear cells of healthy adults, but the difference was not statistically significant. CONCLUSION: These results suggest that the levels of s4-1BB may be associated with pathogenesis of hepatitis B virus and therefore may be a promising biomarker for disease progression. PMID:33728305 | PMC:PMC7942032 | DOI:10.12998/wjcc.v9.i7.1619 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Vancomycin-induced thrombocytopenia in endocarditis: A case report and review of literature

paythelady.612 shared this article with you from Inoreader Vancomycin-induced thrombocytopenia in endocarditis: A case report and review of literature Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Mar 6;9(7):1696-1704. doi: 10.12998/wjcc.v9.i7.1696. ABSTRACT BACKGROUND: Thrombocytopenia is a serious complication in the medical practice of numerous drugs. Vancomycin is frequently used for the prophylaxis and treatment of suspected or identified methicillin-resistant positive infections. Several cases with vancomycin-induced thrombocytopenia (VIT) have been reported. However, these have rarely been extensively reviewed. The present report describes a case of VIT in endocarditis, and reviews all VIT cases reported in the literature. CASE SUMMARY: A 26-year-old male diagnosed with infective endocarditis was admitted. The patient was treated with multiple drugs, including vancomycin, which was initially intravenously given at 1000 mg every 12 h and subsequently at 500 mg every 8 h on day 3. On day 11, the platelet count decreased to 51 × 109/L, vancomycin was switched to 500 mg every 12 h, a nd platelet transfusion was given. On day 17, the platelet count dropped to 27 × 109/L, and platelet transfusion was administered again. On day 23, vancomycin was adjusted to 500 mg every 8 h as the trough concentration dropped to the minimum effective concentration. On day 33, the platelet count declined to approximately 40 × 109/L. After platelet transfusion, the platelet count rebounded to 90 × 109/L on day 35 but dropped again to 42 × 109/L on day 43. Based on the time-to-platelet count curve and Naranjo's Adverse Drug Reaction Probability Scale score, VIT was suspected. After vancomycin discontinuation and platelet transfusion, the platelet count gradually normalized. CONCLUSION: The diagnosis of VIT can be achieved through the time-to-platelet count curve and Naranjo's Adverse Drug Reaction Probability Scale score. The platelet count cannot be normalized simply by platelet transfusion alone, and vancomycin discontinuation i s essential. PMID:33728314 | PMC:PMC7942037 | DOI:10.12998/wjcc.v9.i7.1696 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Dysphagia in a patient with ankylosing spondylitis: A case report

paythelady.612 shared this article with you from Inoreader Dysphagia in a patient with ankylosing spondylitis: A case report Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Mar 6;9(7):1639-1645. doi: 10.12998/wjcc.v9.i7.1639. ABSTRACT BACKGROUND: Ankylosing spondylitis (AS) is a systematic and rheumatic disease, which causes multiple symptoms. However, dysphagia due to the formation of a giant anterior cervical osteophyte is rare in patients with AS. CASE SUMMARY: We present the case of a 65-year-old male patient who was diagnosed with AS and visited the hospital with a complaint of progressive dysphagia. The appropriate imaging examinations indicated that a giant anterior cervical osteo-phyte at C3-4 caused esophageal compression, which led to dysphagia. An operation for resection was performed without complications. CONCLUSION: This case demonstrates that a large cervical osteophyte may be the cause of dysphagia in patients with AS, and early accurate diagnosis and surgical treat-ment are very important for the improvement of symptoms. Anterior cervical discectomy an d fusion are extremely effective and should be taken into consideration. PMID:33728307 | PMC:PMC7942043 | DOI:10.12998/wjcc.v9.i7.1639 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Human menstrual blood-derived stem cells as immunoregulatory therapy in COVID-19: A case report and review of the literature

paythelady.612 shared this article with you from Inoreader Human menstrual blood-derived stem cells as immunoregulatory therapy in COVID-19: A case report and review of the literature Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Mar 6;9(7):1705-1713. doi: 10.12998/wjcc.v9.i7.1705. ABSTRACT BACKGROUND: The coronavirus disease 2019 (COVID-19) caused by novel coronavirus 2019 in December 2019 has spread all around the globe and has caused a pandemic. There is still no current effective guidance on the clinical management of COVID-19. Mesenchymal stem cell therapy has been shown to be one of the therapeutic approaches to alleviate pneumonia and symptoms through their immunomo-dulatory effect in COVID-19 patients. CASE SUMMARY: We describe the first confirmed case of COVID-19 in Hangzhou to explore the role of human menstrual blood-derived stem cells (MenSCs) in the treatment of COVID-19. Moreover, we review the immunomodulation effect including non-specific and specific immune functions of MenSCs for the therapy of COVID-19. CONCLUSION: MenSCs can be helpful to find a promising therapeutic approach for COVID-19. PMID:33728315 | PMC:PMC7942055 | DOI:10.12998/wjcc.v9.i7.1705 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Review of the risk factors for SARS-CoV-2 transmission

paythelady.612 shared this article with you from Inoreader Review of the risk factors for SARS-CoV-2 transmission Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Mar 6;9(7):1499-1512. doi: 10.12998/wjcc.v9.i7.1499. ABSTRACT The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, which has lasted for nearly a year, has made people deeply aware of the strong transmissibility and pathogenicity of SARS-CoV-2 since its outbreak in December 2019. By December 2020, SARS-CoV-2 had infected over 65 million people globally, resulting in more than 1 million deaths. At present, the exact animal origin of SARS-CoV-2 remains unclear and antiviral vaccines are now undergoing clinical trials. Although the social order of human life is gradually returning to normal, new confirmed cases continue to appear worldwide, and the majority of cases are sporadic due to environmental factors and lax self-protective consciousness. This article provides the latest understanding of the epidemiology and risk factors of nosocomial and community transmission of SARS-CoV-2, as well as strategies to diminish the risk of transmission. We believe that our review will help the public correctly understand and cope with SARS-CoV-2. PMID:33728294 | PMC:PMC7942044 | DOI:10.12998/wjcc.v9.i7.1499 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.