Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group

xlomafota.13 shared this article with you from Inoreader Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group Via Latest Results for Familial Cancer Abstract The rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver and the central nervous system (Atypical Teratoid Rhabdoid Tumors, ATRT). Both, RTPS1&2 are due to pathogenic variants (PV) in genes encoding constituents of the BAF chromatin remodeling complex, i.e. SMARCB1 (RTPS1) and SMARCA4 (RTPS2). In contrast to other genetic disorders related to PVs in SMARCB1 and SMARCA4 such as Coffin-Siris Syndrome, RTPS1&2 are characterized by a predominance of truncating PVs, terminating transcription thus explaining a specific cancer risk. The penetrance of RTPS1 early in life is high and associated with a poor survival. However, few unaffected carriers may be encountered. Beyond RT, the tumor spectrum may be larger than initially suspected, and cancer surveillance offered to unaffected carriers (siblings or parents) and long-term survivors of RT is still a matter of discussion. RTPS2 exposes female carriers to an ill-defined risk of small cell carcinoma of the ovaries, hypercalcemic type (SCCOHT), which may appear in prepubertal females. RT surveillance protocols for these rare families have not been established. To address unresolved issues in the care of individuals with RTPS and to propose appropriate surveillance guidelines in childhood, the SIOPe Host Genome working group invited pediatric oncologists and geneticists to contribute to an expert meeting. The current manuscript summarizes conclusions of the panel discussion, including consented statements as well as non-evidence-based proposals for validation in the future. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Pelvic incidence correlates to sagittal spinal morphology in lenke 5 adolescent idiopathic scoliosis and influences the proximal junctional kyphosis rate after correction surgery

xlomafota.13 shared this article with you from Inoreader Pelvic incidence correlates to sagittal spinal morphology in lenke 5 adolescent idiopathic scoliosis and influences the proximal junctional kyphosis rate after correction surgery Via Latest Results for European Spine Journal Abstract Purpose This study aimed to investigate the relationship between pelvic incidence and sagittal spinal morphology in Lenke 5 adolescent idiopathic scoliosis (AIS) and its impact on the proximal junctional kyphosis rate after surgery. Methods The study enrolled a total of 52 cases of Lenke 5 AIS between September 2009 and December 2018. Sagittal spinal morphological parameters, pelvic incidence (PI) and the proximal junctional angle were measured on full-length spinal standing lateral x-ray films preoperatively, postoperatively and at the final follow-up. Pearson correlation analysis was performed to reveal the relationship between sagittal spinal morphology and PI. Multivariable regression analysis and receiver operating characteristic (ROC) curve analysis were performed to identify the risk factors for proximal junctional kyphosis (PJK). Results A correlation was found between PI and sagittal spinal morphological parameters, but not between PI and lumbar lordosis. The PJK rate after surgery was 23% (12/52). PI was revealed as an independent risk factor for proximal junctional kyphosis according to multivariable regression analysis (OR = 0.902, p = 0.049). Both multivariable regression analysis and ROC curve analysis verified that restoring a rational postoperative PI-LL/PLL relationship reduced the rate of PJK, including PI-LL mismatch (OR = 0.743, p = 0.046; cutoff value = − 15.5°), the LL-PI ratio (OR = 5.756, p = 0.021; cutoff value = 1.09), and the PLL-PI ratio (OR = 2.116, p = 0.016; cutoff value = 0.40). Conclusions PI influences sagittal spinal morphology in Lenke 5 AIS, although it does not show an inherent relationship with lumbar lordosis. PI also correlates to the PJK rate after surgery. Restoring an ideal postoperative PI-LL relationship could decrease the PJK rate. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Study of emission and optical interaction in the UO 2 –Nd system doped in zinc phosphate glass

xlomafota.13 shared this article with you from Inoreader Study of emission and optical interaction in the UO 2 –Nd system doped in zinc phosphate glass Via Latest Results for Indian Journal of Physics Abstract The study of the interaction between optically excited ions that enhances emission from fluorescence cations can be useful in industrial application and scientific research. The sensitization of active rare earth ions by uranyl ion can be particularly useful for improving the pumping efficiency of solid-state lasers. Keeping the above facts in mind, non-radiative energy transfer from optically excited UO2++ to Nd3+ has been studied in zinc phosphate glass by keeping donor concentration fixed and varying acceptor concentration at room temperature. From the experimental investigation, it has been observed that the emission intensity of the donor (UO2++) decreases with increasing acceptor (Nd3+) concentration resulting in a non-radiative energy transfer from UO2++ to Nd3+. According to Fong–Diestler's and Forster and Dexter's theories, the dipole–dipole transfe r mechanism is found to be dominant in the present system and phonon-assisted energy transfer is also suggested. At different acceptor concentrations, various parameters necessary for the quantitative study, e.g., donor–acceptor distances (DD→A), transfer efficiencies (η), energy transfer probabilities (Pda) and critical transfer distances (R0), have been calculated. In the present study, we report that uranyl ion is particularly useful as an indirect pumping source for Nd3+. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Association of computed tomography-derived myocardial mass with fractional flow reserve-verified ischemia or subsequent therapeutic strategy

xlomafota.13 shared this article with you from Inoreader Association of computed tomography-derived myocardial mass with fractional flow reserve-verified ischemia or subsequent therapeutic strategy Via Latest Results for Heart and Vessels Abstract The aim of the present study was to examine the association of myocardial mass verified by computed tomography (CT) and invasive fractional flow reserve (FFR)—verified myocardial ischemia, or subsequent therapeutic strategy for the targeted vessels after FFR examination. We examined 333 vessels with intermediate stenoses in 297 patients (mean age 69.0 ± 9.5, 228 men) undergoing both coronary CT angiography and invasive FFR, and reviewed the therapeutic strategy after FFR. Of 333 vessels, FFR ≤ 0.80 was documented in 130 (39.0%). Myocardial volume supplied by the target vessel (MVT) was larger in those with FFR-verified ischemia than those without (53.4 ± 19.5 vs. 42.9 ± 22.2 cm3, P < 0.001). Addition of MVT to a model including patient characteristics (age, gender), visual assessment (≥ 70% stenosis, high-risk appearance), and quantitative CT vessel parameters [minimal lumen area (MLA), plaque burden at M LA, percent aggregate plaque volume] improved C-index (from 0.745 to 0.778, P = 0.020). Furthermore, of 130 vessels with FFR ≤ 0.80, myocardial volume exposed to ischemia (MVI) was larger in the vessels with early revascularization after FFR examination than those without (37.2 ± 20.0 vs. 26.8 ± 15.0 cm3, P = 0.003), and was independently associated with early revascularization [OR = 1.03, 95% confidence interval (1.02–1.11), P < 0.001]. Using an on-site CT workstation, MVT identified coronary arteries with FFR-verified ischemia easily and non-invasively, and MVI was associated with subsequent therapeutic strategy after FFR examinations. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Multiple omicsAnalysis Reveals the Role of Prostaglandin E2 in Hirschsprungs Disease

xlomafota.13 shared this article with you from Inoreader Multiple omicsAnalysis Reveals the Role of Prostaglandin E2 in Hirschsprungs Disease Via OMICS International Yankai Xia View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Continuity of cancer care in the era of COVID-19 pandemic: Role of social media in low- and middle-income countries.

paythelady.612 shared this article with you from Inoreader Continuity of cancer care in the era of COVID-19 pandemic: Role of social media in low- and middle-income countries. Μέσω pubmed: "world j clin cases"... Related Articles Continuity of cancer care in the era of COVID-19 pandemic: Role of social media in low- and middle-income countries. World J Clin Cases. 2021 Jan 16;9(2):291-295 Authors: Yadav SK, Yadav N Abstract A novel coronavirus (severe acute respiratory syndrome coronavirus 2) first detected in Wuhan, China, has spread rapidly since December 2019, causing more than 1.4 million confirmed infections and 15000 fatalities (as of April 9, 2020). The outbreak was declared a pandemic by the World Health Organization on March 11, 2020. Isolation, quarantine, social distancing, and community containment measures were rapidly implemented in China, which helped in containing the disease. However, other low- and middle-income countries lack such extensive infrastructural capacities and resources. Cancer patients are particularly at high risk of infection and mortality due to immunosuppression. Hence self-quarantine is recommended for them. Additionally, it is becoming impossible to maintain the continuity of care when cancer patients have to avoid physical visits. Social media applications, e.g., Facebook and WhatsApp, can provide educational group program and psychosocial support to these p atients while maintain social distancing. We have analyzed their use in this review article and how it could change the follow-up of cancer patients during this pandemic. PMID: 33521097 [PubMed] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Effect of a fever in viral infections - the 'Goldilocks' phenomenon?

paythelady.612 shared this article with you from Inoreader Effect of a fever in viral infections - the 'Goldilocks' phenomenon? Μέσω pubmed: "world j clin cases"... Related Articles Effect of a fever in viral infections - the 'Goldilocks' phenomenon? World J Clin Cases. 2021 Jan 16;9(2):296-307 Authors: Belon L, Skidmore P, Mehra R, Walter E Abstract Acute infections, including those due to Coronaviridae and other viruses, often stimulate a febrile response. A mild fever appears to improve outcome; it appears to diminish viral replication by several mechanisms, including virion entry into host cells and genome transcription, and improving host defence mechanisms against the pathogen. However, a fever may also damage host cellular and tissue function and increase metabolic demands. At temperatures at the lower end of the febrile range, the benefit of the fever appears to outweigh the detrimental effects. However, at higher temperatures, the outcome worsens, suggesting that the disadvantages of fever on the host predominate. A non-infective fever is associated with a worse outcome at lower temperatures, suggesting that hyperthermia carries less benefit in the absence of infection. This review discusses the risks and benefits of a fever on the host response, focusing on the effects of a fever on viral replication and host re sponse, and the detrimental effect on the host. PMID: 33521098 [PubMed] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Overview of bile acid signaling in the cardiovascular system.

paythelady.612 shared this article with you from Inoreader Overview of bile acid signaling in the cardiovascular system. Μέσω pubmed: "world j clin cases"... Related Articles Overview of bile acid signaling in the cardiovascular system. World J Clin Cases. 2021 Jan 16;9(2):308-320 Authors: Zhang R, Ma WQ, Fu MJ, Li J, Hu CH, Chen Y, Zhou MM, Gao ZJ, He YL Abstract Bile acids (BAs) are classically known to play a vital role in the metabolism of lipids and in absorption. It is now well established that BAs act as signaling molecules, activating different receptors (such as farnesoid X receptor, vitamin D receptor, Takeda G-protein-coupled receptor 5, sphingosine-1-phosphate, muscarinic receptors, and big potassium channels) and participating in the regulation of energy homeostasis and lipid and glucose metabolism. In addition, increased BAs can impair cardiovascular function in liver cirrhosis. Approximately 50% of patients with cirrhosis develop cirrhotic cardiomyopathy. Exposure to high concentrations of hydrophobic BAs has been shown to be related to adverse effects with respect to vascular tension, endothelial function, arrhythmias, coronary atherosclerotic heart disease, and heart failure. The BAs in the serum BA pool have relevant through their hydrophobicity, and the lipophilic BAs are more harmful to the heart. Interestingly, urs odeoxycholic acid is a hydrophilic BA, and it is used as a therapeutic drug to reverse and protect the harmful cardiac effects caused by hydrophobic elevated BAs. In order to elucidate the mechanism of BAs and cardiovascular function, abundant experiments have been conducted in vitro and in vivo. The aim of this review was to explore the mechanism of BAs in the cardiovascular system. PMID: 33521099 [PubMed] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Gut microbiota and inflammatory bowel disease: The current status and perspectives.

paythelady.612 shared this article with you from Inoreader Gut microbiota and inflammatory bowel disease: The current status and perspectives. Μέσω pubmed: "world j clin cases"... Related Articles Gut microbiota and inflammatory bowel disease: The current status and perspectives. World J Clin Cases. 2021 Jan 16;9(2):321-333 Authors: Zheng L, Wen XL Abstract Inflammatory bowel disease (IBD) is a chronic immune-mediated disease that affects the gastrointestinal tract. It is argued that environment, microbiome, and immune-mediated factors interact in a genetically susceptible host to trigger IBD. Recently, there has been increased interest in the development, progression, and treatment of IBD because of our understanding of the microbiome. Researchers have proved that some factors can alter the microbiome and the pathogenesis of IBD. As a result, there has been increasing interest in the application of probiotics, prebiotics, antibiotics, fecal microbiota transplantation, and gene manipulation in treating IBD because of the possible curative effect of microbiome-modulating interventions. In this review, we summarize the findings from human and animal studies and discuss the effect of the gut microbiome in treating patients with IBD. PMID: 33521100 [PubMed] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Effective immune-inflammation index for ulcerative colitis and activity assessments.

paythelady.612 shared this article with you from Inoreader Effective immune-inflammation index for ulcerative colitis and activity assessments. Μέσω pubmed: "world j clin cases"... Related Articles Effective immune-inflammation index for ulcerative colitis and activity assessments. World J Clin Cases. 2021 Jan 16;9(2):334-343 Authors: Zhang MH, Wang H, Wang HG, Wen X, Yang XZ Abstract BACKGROUND: The inverse association between systemic immune-inflammation index (SII) and overall survival in tumors has been studied. AIM: To evaluate the hematological indexes for assessing the activity of ulcerative colitis (UC). METHODS: In this case-control study, 172 UC patients and healthy participants were included. Comparisons were made among groups of white blood cells, hemoglobin, platelets, neutrophils, lymphocytes, monocytes, SII, neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PLR). The relationship with hematological inflammation was verified by Spearman correlation analyses. The efficiency of SII, NLR, and PLR for distinguishing between UC and severe disease status was assessed by the receiver operator curve and logistic regression analyses. RESULTS: The values of SII, NLR, and PLR were higher in UC patients than in controls (P < 0.001) and were positively correlated with the Mayo endoscopic score, extent, Degree of Ulcerative Colitis Burden of Luminal Inflammation (DUBLIN) score, and Ulcerative Colitis Endoscopic Index of Severity (UCEIS). The cut-off NLR value of 562.22 predicted UC with a sensitivity of 79.65% and a specificity of 76.16%. Logistic regression analysis revealed that patients with SII and NLR levels above the median had a significantly higher risk of UC (P < 0.05). Risk factors independently associated with DUBLIN ≥ 3 included SII ≥ 1776.80 [odds ratio (OR) = 11.53, P = 0.027] and NLR value of 2.67-4.23 (OR = 2.96, P = 0.047) on multivariate analysis. Compared with the first quartile, SII ≥ 1776.80 was an independent predictor of UCEIS ≥ 5 (OR = 18.46, P = 0.012). CONCLUSION: SII has a certain value in confirming UC and identifying its activity. PMID: 33521101 [PubMed] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Risk factors associated with acute respiratory distress syndrome in COVID-19 patients outside Wuhan: A double-center retrospective cohort study of 197 cases in Hunan, China.

paythelady.612 shared this article with you from Inoreader Risk factors associated with acute respiratory distress syndrome in COVID-19 patients outside Wuhan: A double-center retrospective cohort study of 197 cases in Hunan, China. Μέσω pubmed: "world j clin cases"... Related Articles Risk factors associated with acute respiratory distress syndrome in COVID-19 patients outside Wuhan: A double-center retrospective cohort study of 197 cases in Hunan, China. World J Clin Cases. 2021 Jan 16;9(2):344-356 Authors: Hu XS, Hu CH, Zhong P, Wen YJ, Chen XY Abstract BACKGROUND: There have been few reports on the risk factors for acute respiratory distress syndrome (ARDS) in coronavirus disease 2019 (COVID-19), and there were obvious differences regarding the incidence of ADRS between Wuhan and outside Wuhan in China. AIM: To investigate the risk factors associated with ARDS in COVID-19, and compare the characteristics of ARDS between Wuhan and outside Wuhan in China. METHODS: Patients were enrolled from two medical centers in Hunan Province. A total of 197 patients with confirmed COVID-19, who had either been discharged or had died by March 15, 2020, were included in this study. We retrospectively collected the patients' clinical data, and the factors associated with ARDS were compared by the χ² test, Fisher's exact test, and Mann-Whitney U test. Significant variables were chosen for the univariate and multivariate logistic regression analyses. In addition, literature in the PubMed database was reviewed, and the characteristics of ARDS, mortality, and biomarkers of COVID-19 severity were compared between Wuhan and outside Wuhan in China. RESULTS: Compared with the non-ARDS group, patients in the ARDS group were significantly older, had more coexisting diseases, dyspnea, higher D-dimer, lactate dehydrogenase (LDH), and C-reactive protein. In univariate logistic analysis, risk factors associated with the development of ARDS included older age [odds ratio (OR) = 1.04), coexisting diseases (OR = 3.94), dyspnea (OR = 17.82), dry/moist rales (OR = 9.06), consolidative/mixed opacities (OR = 2.93), lymphocytes (OR = 0.68 for high lymphocytes compared to low lymphocytes), D-dimer (OR = 1.41), albumin (OR = 0.69 for high albumin compared to low albumin), alanine aminotransferase (OR = 1.03), aspartate aminotransferase (OR = 1.02), LDH (OR = 1.02), C-reactive protein (OR = 1.04) and procalcitonin (OR = 17.01). In logistic multivariate analysis, dyspnea (adjusted OR = 27.10), dry/moist rales (adjusted OR = 9.46), and higher LDH (adjusted OR = 1.02) were independent risk factors. The literature review showed that patients in Wuhan had a higher incidence of ARDS, higher mortality rate, and higher levels of biomarkers associated with COVID-19 severity than those outside Wuhan in China. CONCLUSION: Dyspnea, dry/moist rales and higher LDH are independent risk factors for ARDS in COVID-19. The incidence of ARDS in Wuhan seems to be overestimated compared with outside Wuhan in China. PMID: 33521102 [PubMed] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.