Estudio refractométrico y conoscópico de las gemas facetadas transparentes birrefringentes de la colección del Museu de Geologia de Barcelona

This work is a revision of faceted transparent birrefringent gems detailed in the catalogue of the collection of the Museu de Geologia published in 2000. The process use figures of interference as especially convincing method for a correct identification of these kind of gems. The Conoscope Figueras 93 is especially suitable for a clear and correct observation of figures of interference. The gemmological refractometer has been used for refractometric readings. Key words: Faceted gems, Figures of interference, Conoscope, Birrefringence, Refractometry, Catalogue, Museu de Geologia, Barcelona, Spain.Este trabajo recoge una revisión de las gemas facetadas birrefringentes del Museo de Geología de Barcelona, detalladas en un catálogo publicado en el año 2000. En el proceso de revisión se utilizan las figuras de interferencia como método más convincente para la correcta identificación de este tipo de gemas, estando el conoscopio Figueras 93 especialmente indicado para la mejor observación de estas figuras. Para las lecturas refractométricas se ha usado el refractómetro gemológico. Palabras clave: Gemas facetadas, Figuras de interferencia, Conoscopio, Birrefringencia, Refractometría, Catálogo, Museu de Geologia, Barcelona, España

Investigating the prevalence of reactive online searching in the COVID-19 pandemic

Background: The ongoing coronavirus disease (COVID-19) pandemic has placed an unprecedented strain on global society, healthcare, governments and mass media. Public dissemination of government policies, medical interventions and misinformation has been remarkably rapid and largely unregulated during the COVID-19 pandemic, resulting in increased misinterpretations, miscommunication, and public panic. Being the first full-scale global pandemic of the digital age, COVID-19 has presented novel challenges pertinent to government advice, the spread of news and misinformation, and the trade-off between the accessibility of science and the premature public use of unproven medical interventions. Objective: This study aims to assess the use of internet search terms relating to COVID-19 information and misinformation during the global pandemic, identify which were most used in six affected countries, investigate any temporal trends and the likely propagators of key search terms, and determine any correlation between the per capita cases and deaths with the adoption of these search terms in each of the six countries. Methods: This study uses relative search volume data extracted from Google Trends for search terms linked to the COVID-19 pandemic alongside per capita case and mortality data extracted from the European Open Data Portal, to identify the temporal dynamics of the spread of news and misinformation during the global pandemic in six affected countries (Australia, Germany, Italy, Spain, United Kingdom, United States of America). A correlation analysis was carried out to ascertain any correlation between the temporal trends of search term use and the rise of per capita mortality and disease cases. Results: Of the selected search terms, most were searched immediately following promotion by governments, public figures or viral circulation of unfounded claims, but also relating to the publication of scientific resources, which were sometimes misinterpreted before further dissemination. Strong correlations were identified between the volume of these COVID-19-related search terms, and per capita mortality and cases. Conclusions: These findings illustrate the increased rate and volume of public consumption of novel information during a global healthcare crisis. The strong positive correlation between mortality and online searching, particularly in countries with lower COVID-19 testing rates, may demonstrate the imperative to safeguard official communications and dispel misinformation in these countries. Online news, government briefings and social media provide a powerful tool for the dissemination of important information to the public during pandemics, but their misuse, and the presentation of misrepresented medical information, should be monitored, minimised and addressed to safeguard public safety. Ultimately, governments, public health authorities and scientists have a moral imperative to safeguard the truth and maintain an accessible discourse with the public to inhibit fear

Reproductive Healthcare Needs and Desires in a Cohort of HIV-Positive Women

Background. The aim of this study was to determine current contraceptive use, contraceptive desires and knowledge, future fertility desires, and sterilization regret in a cohort of HIV-positive women. Study Design. 127 HIV-positive women receiving care at an urban infectious disease clinic completed a survey addressing their contraceptive and reproductive histories as well as their future contraceptive and fertility desires. Results. The most common forms of contraception used were sterilization (44.4%) and condoms (41.3%). Less than 1% used a long-term reversible method of contraception (LARC) despite these being the methods that best fit their desired attributes of a contraceptive method. Overall, 29.4% desired future fertility. Only 50.6% of those sexually active had spoken with a provider within the last year regarding their contraceptive plans. There was a high degree of sterilization regret (36.4%), and 18.2% of sterilized women desired future fertility. Multivariate analysis found women in a monogamous relationship had a statistically increased rate of regret compared to women who were not sexually active (OR 13.8, 95% CI 1.6–119, P = 0.17). Conclusion. Given the diversity in contraceptive and fertility desires, coupled with a higher rate of sterilization regret than is seen in the general population, integration of comprehensive family planning services into HIV care via increased contraceptive education and access is imperative

What is the impact of local control in Ewing sarcoma : analysis of the first Brazilian collaborative study group – EWING1

Background: Relapse in localized Ewing sarcoma patients has been a matter of concern regarding poor prognosis. Therefore, we investigated the impact of local control modality (surgery, surgery plus radiotherapy, and radiotherapy) on clinical outcomes such as survival and recurrence in patients with non-metastatic Ewing sarcoma treated on the first Brazilian Collaborative Group Trial of the Ewing Family of Tumors (EWING1). Methods: Seventy-three patients with localized Ewing sarcoma of bone aged < 30 years were included. The treating physicians defined the modality of local control based on the recommendations of the coordinating center and the patient and tumor characteristics. Possible associations of local control modality with local failure (LF), disease-free survival (DFS), event-free survival (EFS), overall survival (OS), and clinical characteristics were analyzed. Results: Mean patient age was 12.8 years (range, 2 to 25 years) and median follow-up time was 4.5 years (range, 2. 3 to 6.7 years). Forty-seven patients underwent surgery, 13 received radiotherapy, and 13 received both. The 5-year EFS, OS, and DFS for all patients was 62.1%, 63.3%, and 73.1%, respectively. The 5-year cumulative incidence (CI) of LF was 7.6% for surgery, 11.1% for radiotherapy, and 0% for postoperative radiotherapy (PORT) (p = 0.61). The 5-year EFS was 71.7% for surgery, 30.8% for radiotherapy, and 64.1% for PORT (p = 0.009). Conclusions: There was a significant effect of local control modality on EFS and OS in the study. Surgery and PORT modalities yielded very close results. The group treated with radiotherapy alone had considerably worse outcomes. This may be confounded by greater risk factors in these patients. There was no significant effect of local control modality on the CI of LF and DFS

What is the impact of local control in Ewing sarcoma: analysis of the first Brazilian collaborative study group-EWING1

Background: Relapse in localized Ewing sarcoma patients has been a matter of concern regarding poor prognosis. Therefore, we investigated the impact of local control modality (surgery, surgery plus radiotherapy, and radiotherapy) on clinical outcomes such as survival and recurrence in patients with non-metastatic Ewing sarcoma treated on the first Brazilian Collaborative Group Trial of the Ewing Family of Tumors (EWING1). Methods: Seventy-three patients with localized Ewing sarcoma of bone aged < 30 years were included. The treating physicians defined the modality of local control based on the recommendations of the coordinating center and the patient and tumor characteristics. Possible associations of local control modality with local failure (LF), disease-free survival (DFS), event-free survival (EFS), overall survival (OS), and clinical characteristics were analyzed. Results: Mean patient age was 12.8 years (range, 2 to 25 years) and median follow-up time was 4.5 years (range, 2. 3 to 6.7 years). Forty-seven patients underwent surgery, 13 received radiotherapy, and 13 received both. The 5-year EFS, OS, and DFS for all patients was 62.1%, 63.3%, and 73.1%, respectively. The 5-year cumulative incidence (CI) of LF was 7.6% for surgery, 11.1% for radiotherapy, and 0% for postoperative radiotherapy (PORT) (p = 0.61). The 5-year EFS was 71.7% for surgery, 30.8% for radiotherapy, and 64.1% for PORT (p = 0.009). Conclusions: There was a significant effect of local control modality on EFS and OS in the study. Surgery and PORT modalities yielded very close results. The group treated with radiotherapy alone had considerably worse outcomes. This may be confounded by greater risk factors in these patients. There was no significant effect of local control modality on the CI of LF and DFS.Children's Cancer InstituteRafael Accordi Foundation, Porto Alegre, RS, BrazilHCPA, Serv Orthoped & Traumatol, Rua Ramiro Barcelos 2350, BR-90035903 Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, HCPA, Dept Pediat, Porto Alegre, RS, BrazilPontificia Univ Catolica Rio Grande Sul PUCRS, Dept Pediat, Hosp Sao Lucas, Porto Alegre, RS, BrazilHCPA, Serv Orthoped & Traumatol, Porto Alegre, RS, BrazilUniv Fed Sao Paulo UNIFESP, Support Grp Children & Adolescents Canc GRAACC, Sao Paulo, SP, BrazilHosp Canc Infantojuvenil, Fundacao Pio 12, Barretos, SP, BrazilCtr Hosp Pereira Rossell, Montevideo, UruguayHosp AC Camargo Canc Ctr, Orthoped Serv, Sao Paulo, SP, BrazilSanta Casa Misericordia Porto Alegre, Serv Orthoped & Traumatol, Porto Alegre, RS, BrazilUniv Sao Paulo, Orthoped Trauma Inst, Hosp Clin Sao Paulo, Sch Med, Sao Paulo, SP, BrazilSanta Casa Misericordia Sao Paulo HSCSP, Dept Orthoped & Traumatol, Sao Paulo, SP, BrazilPontificia Univ Catolica Rio Grande Sul PUCRS, Hosp Sao Lucas, Serv Orthoped & Traumatol, Porto Alegre, RS, BrazilUniv Estadual Paulista UNESP, Hosp Clin Botucatu, Sch Med, Botucatu, SP, BrazilInst Canc Infantil, Porto Alegre, RS, BrazilUniv Fed Sao Paulo UNIFESP, Support Grp Children & Adolescents Canc GRAACC, Sao Paulo, SP, BrazilChildren's Cancer InstituteRafael Accordi Foundation, Porto Alegre, RS, BrazilWeb of Scienc

Next-generation sequencing in bone marrow failure syndromes and isolated cytopenias: experience of the spanish network on bone marrow failure sundromes

© 2021 the Author(s).Inherited bone marrow failure syndromes (IBMFSs) are a group of congenital rare diseases characterized by bone marrow failure, congenital anomalies, high genetic heterogeneity, and predisposition to cancer. Appropriate treatment and cancer surveillance ideally depend on the identification of the mutated gene. A next-generation sequencing (NGS) panel of genes could be 1 initial genetic screening test to be carried out in a comprehensive study of IBMFSs, allowing molecular detection in affected patients. We designed 2 NGS panels of IBMFS genes: version 1 included 129 genes and version 2 involved 145 genes. The cohort included a total of 204 patients with suspected IBMFSs without molecular diagnosis. Capture-based targeted sequencing covered > 99% of the target regions of 145 genes, with more than 20 independent reads. No differences were seen between the 2 versions of the panel. The NGS tool allowed a total of 91 patients to be diagnosed, with an overall molecular diagnostic rate of 44%. Among the 167 patients with classified IBMFSs, 81 patients (48%) were diagnosed. Unclassified IBMFSs involved a total of 37 patients, of whom 9 patients (24%) were diagnosed. The preexisting diagnosis of 6 clinically classified patients (6%) was amended, implying a change of therapy for some of them. Our NGS IBMFS gene panel assay is a useful tool in the molecular diagnosis of IBMFSs and a reasonable option as the first tier genetic test in these disorders

Detrimental effect of zwitterionic buffers on lysosomal homeostasis in cell lines and iPSC-derived neurons

Good’s buffers are commonly used for cell culture and, although developed to have minimal to no biological impact, they cause alterations in cellular processes such as autophagy and lysosomal enzyme activity. Using Chinese hamster ovary cells and induced pluripotent stem cell-derived neurons, this study explores the effect of zwitterionic buffers, specifically HEPES, on lysosomal volume and Ca2+ levels. Certain zwitterionic buffers lead to lysosomal expansion and reduced lysosomal Ca2+. Care should be taken when selecting buffers for growth media to avoid detrimental impacts on lysosomal function

Correction: Long-term outcome after allogeneic hematopoietic stem cell transplantation for Shwachman–Diamond syndrome: a retrospective analysis and a review of the literature by the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation (SAAWP-EBMT)

An amendment to this paper has been published and can be accessed via a link at the top of the paper