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Abstract Background Malignant pheochromocytoma and paraganglioma (MPP) are characterized by prognostic heterogeneity. Our objective was to look for prognostic parameters of overall survival (OS) in MPP patients. Patients and Methods Retrospective multicenter study of MPP characterized by a neck-thoraco-abdomino-pelvic CT or MRI at the time of malignancy diagnosis in European centers between 1998 and 2010. Results One hundred sixty-nine patients from 18 European centers were included. Main characteristics of patients with MPP were: primary pheochromocytoma in 53% of patients; tumor- or hormone-related symptoms in 57% or 58% of cases; positive plasma or urine hormones in 81% of patients; identification of a mutation in SDHB in 42% of cases. Metastatic sites included bone (64%), lymph node (40%), lung (29%), and liver (26%); mean time between initial and malignancy diagnosis was 43 months (range, 0 to 614). Median follow-up was 68 months and median survival 6.7 years. Using univariate analysis, better survival was associated with head and neck paraganglioma, age <40 years, metanephrines less than fivefold the upper limits of the normal range, and low proliferative index. In multivariate analysis, hypersecretion [hazard ratio 3.02 (1.65 to 5.55); P = 0.0004] was identified as an independent significant prognostic factor of worst OS. Conclusions Our results do not confirm SDHB mutations as a major prognostic parameter in MPP and suggest additional key molecular events involved in MPP tumor progression. Aside from SDHB mutation, the biology of aggressive MPP remains to be understood. Retrospective study that identifies hormonal hypersecretion as an independent significant prognostic factor of worst overall survival, whereas SDHB mutations have no prognostic impact.

Background Group A Streptococcus is responsible for severe and potentially lethal invasive conditions requiring intensive care unit (ICU) admission, such as streptococcal toxic shock-like syndrome (STSS). A rebound of invasive group A streptococcal (iGAS) infection after COVID-19-associated barrier measures has been observed in children. Several intensivists of French adult ICUs have reported similar bedside impressions without objective data. We aimed to compare the incidence of iGAS infection before and after the COVID-19 pandemic, describe iGAS patients’ characteristics, and determine ICU mortality associated factors. Methods We performed a retrospective multicenter cohort study in 37 French ICUs, including all patients admitted for iGAS infections for two periods: two years before period (October 2018 to March 2019 and October 2019 to March 2020) and a one-year after period (October 2022 to March 2023) COVID-19 pandemic. iGAS infection was defined by Group A Streptococcus isolation from a normally sterile site. iGAS infections were identified using the International Classification of Diseases and confirmed with each center's microbiology laboratory databases. The incidence of iGAS infections was expressed in case rate. Results Two hundred and twenty-two patients were admitted to ICU for iGAS infections: 73 before and 149 after COVID-19 pandemic. Their case rate during the period before and after COVID-19 pandemic was 205 and 949/100,000 ICU admissions, respectively ( p  < 0.001), with more frequent STSS after the COVID-19 pandemic (61% vs. 45%, p  = 0.015). iGAS patients ( n  = 222) had a median SOFA score of 8 (5–13), invasive mechanical ventilation and norepinephrine in 61% and 74% of patients. ICU mortality in iGAS patients was 19% (14% before and 22% after COVID-19 pandemic; p  = 0.135). In multivariate analysis, invasive mechanical ventilation (OR = 6.08 (1.71–21.60), p  = 0.005), STSS (OR = 5.75 (1.71–19.22), p  = 0.005), acute kidney injury (OR = 4.85 (1.05–22.42), p  = 0.043), immunosuppression (OR = 4.02 (1.03–15.59), p  = 0.044), and diabetes (OR = 3.92 (1.42–10.79), p  = 0.008) were significantly associated with ICU mortality. Conclusion The incidence of iGAS infections requiring ICU admission increased by 4 to 5 after the COVID-19 pandemic. After the COVID-19 pandemic, the rate of STSS was higher, with no significant increase in ICU mortality rate.

Rare diseases include 6,000–8,000 different conditions, over 70% of them having a genetic cause. Most cases have early manifestations (in childhood and adolescence), and just a small fraction (around 5%) has specific therapies available. Nevertheless, appropriate management measures contribute to improve the quality of life of patients and families. They affect up to 3.5–5.9% of the world’s population and are recently attracting attention from international agencies such as the United Nations and the World Health Organization. In Brazil, a condition is considered rare when there are no more than 65 people affected in each 100,000 inhabitants and it is estimated that around 12 million people in the country may present one of these conditions, which represents a significant burden to the family and to the health care system. Despite concrete advances observed in the last decades, there are still significant unmet needs for persons living with rare diseases in Brazil. With the main aim of shortening the journey of patients with rare diseases in Brazil, we envisioned a model that involves comprehensive clinical and laboratorial multiprofessional evaluations, with intensive use of telemedicine and genomics. The model includes a strong activity in education, training and research, and has several parallel initiatives (biobank, registry, undiagnosed disease program, information services, extramural diagnostic support), in addition to strategic partnerships, that make the overall project stronger. This report describes the system in place at the pilot unit of Casa dos Raros (that started activities in 2023, in Porto Alegre, Brazil) and the stimulating preliminary results, which indicate a significant reduction in the diagnostic journey. This model, that operates as a charity and does not charge any fees to patients and families, will be replicated in other regions of Brazil, with the opening of a second unit planned to occur in the near future in Sao Paulo.

New variants of SARS-CoV-2 are a major source of concern, especially for pregnant women and in the perinatal context. The primary aim of this study was to compare the severity of COVID-19 infection in pregnant women depending on strain predominance between wild-type Alpha and Gamma variants. The secondary aim was to study the impact of these strains on obstetrical and neonatal outcomes. We conducted a two-center international retrospective cohort study, which included two type III maternity hospitals, one in France and one in Brazil, comparing the first period corresponding to the wild-type strain and the second period corresponding to the predominance of the Alpha variant in France and the Gamma variant in Brazil. We included 151 pregnant women with symptomatic SARS-CoV-2 infection confirmed by RT-PCR. The rate of severe-to-critical infection, according to the WHO definition, was seven-fold higher in patients infected during the “variant period” than in patients infected during the “wild-type period” (aOR = 7.07, 95CI [2.50–21.6], p < 0.001). There were no statistical differences concerning composite obstetrical and neonatal outcomes between the different periods. While analyzing each variant separately, it was found that, in France, the risk of developing a severe-to-critical infection was three times greater during the Alpha period than during the wild-type period (OR = 3.25, 95CI [0.70–15.6], p = 0.13) and, in Brazil, the risk was twelve times greater during the Gamma period than during the wild-type period (OR = 11.8, 95CI [2.46–72.3], p = 0.003). The Alpha and Gamma variants of SARS-CoV-2 seem to be more dangerous in the obstetrical context. With the rapid emergence of new variants, it is necessary to accelerate vaccination to protect women and newborn children.

MDH2 (malate dehydrogenase 2) has recently been proposed as a novel potential pheochromocytoma/paraganglioma (PPGL) susceptibility gene, but its role in the disease has not been addressed. This study aimed to determine the prevalence of MDH2 pathogenic variants among PPGL patients and determine the associated phenotype. Eight hundred thirty patients with PPGLs, negative for the main PPGL driver genes, were included in the study. Interpretation of variants of unknown significance (VUS) was performed using an algorithm based on 20 computational predictions, by implementing cell-based enzymatic and immunofluorescence assays, and/or by using a molecular dynamics simulation approach. Five variants with potential involvement in pathogenicity were identified: three missense (p.Arg104Gly, p.Val160Met and p.Ala256Thr), one in-frame deletion (p.Lys314del), and a splice-site variant (c.429+1G>T). All were germline and those with available biochemical data, corresponded to noradrenergic PPGL. This study suggests that MDH2 pathogenic variants may play a role in PPGL susceptibility and that they might be responsible for less than 1% of PPGLs in patients without pathogenic variants in other major PPGL driver genes, a prevalence similar to the one recently described for other PPGL genes. However, more epidemiological data are needed to recommend MDH2 testing in patients negative for other major PPGL genes.

The 134.68 ha campus of the Federal University of Juiz de Fora (UFJF) is in urban area impacted by new developments. The population of 27,600 consumers causes the loss of green areas and generates increasing waste and sewage water. This study evaluated the impact of UFJF Campus activities on water quality, emphasizing the Manacás Lake Basin (MLB). The evaluation was based on five monitoring points: a spring (P1) and the four mouths of the streams that flow into Manacás Lake (P2 to P5). Water samples were collected monthly between November 2013 and October 2014, and pH, DO, COD, Conductivity and Turbidity were analyzed. The results showed that the DO increases from the spring (P1) to the mouth (P2), with low values at the other points, and a median of 1.3 mg L-1 at P5. COD does not follow a pattern, registering medians higher than 6 mgO2 L-1 at all points, highlighting P4 with 25.5 mgO2 L-1, the sub-basin which contains most of the Labs. Worse turbidity was found at P5, with 39.42 UNT, coinciding with the sub-basin most affected by construction. Conductivity gradually increased from P1 to P2, and medians were not statically different for P3, P4, and P5. Manacá Lake is Class 2 according to CONAMA resolution Nº 357/2005, but the results showed that the DO at P4 and P5 has values of Class 4 water, with frequent anaerobiosis.

The 134.68 ha campus of the Federal University of Juiz de Fora (UFJF) is in urban area impacted by new developments. The population of 27,600 consumers causes the loss of green areas and generates increasing waste and sewage water. This study evaluated the impact of UFJF Campus activities on water quality, emphasizing the Manacas Lake Basin (MLB). The evaluation was based on five monitoring points: a spring (P1) and the four mouths of the streams that flow into Manacas Lake (P2 to P5). Water samples were collected monthly between November 2013 and October 2014, and pH, DO, COD, Conductivity and Turbidity were analyzed. The results showed that the DO increases from the spring (P1) to the mouth (P2), with low values at the other points, and a median of 1.3 mg L super( -1) at P5. COD does not follow a pattern, registering medians higher than 6 mgO sub( 2) L super( -1) at all points, highlighting P4 with 25.5 mgO sub( 2) L super( -1), the sub-basin which contains most of the Labs. Worse turbidity was found at P5, with 39.42 UNT, coinciding with the sub-basin most affected by construction. Conductivity gradually increased from P1 to P2, and medians were not statically different for P3, P4, and P5. Manaca Lake is Class 2 according to CONAMA resolution N degree 357/2005, but the results showed that the DO at P4 and P5 has values of Class 4 water, with frequent anaerobiosis.

O Campus da Universidade Federal de Juiz de Fora, com 134,68 ha, está inserido em área urbana com grande crescimento imobiliário e com uma população de 27.600 usuários, acarretando a perda de áreas verdes, aumentando a geração de resíduos e efluentes. O objetivo desse artigo foi avaliar os impactos das atividades do Campus da UFJF na qualidade da água da Bacia de Contribuição do Lago dos Manacás (BCLM). Foram escolhidos cinco pontos para o monitoramento, considerando uma nascente (P1) e as fozes dos quatro córregos que deságuam no Lago dos Manacás (P2 a P5). As amostras foram coletadas mensalmente, durante o período de novembro de 2013 a outubro de 2014. Foram medidos pH, Oxigênio Dissolvido (OD), Demanda Química de Oxigênio (DQO), Condutividade Específica e Turbidez. Os resultados mostraram que o OD aumenta da nascente de um córrego (P1) para sua foz (P2) com valores baixos nas demais fozes, destacando uma mediana de 1,3 mg L-1 no P5; a DQO não segue um padrão, ficando com as medianas maiores que 6 mg O2 L-1 em todos os pontos, com destaque para o P4 com 25,5 mg O2 L-1, sub-bacia na qual estão localizados a maioria dos laboratórios da universidade; a Turbidez ficou pior no P5 com 39,42 UNT, coincidindo com a sub-bacia mais afetada por obras e movimentação de terra; a Condutividade Específica aumentou gradativamente de P1 até P2, não diferenciando estatisticamente as medianas entre P3, P4 e P5. O Lago dos Manacás enquadra-se na Classe 2 e, de acordo com a Resolução CONAMA nº 357/2005, há uma desconformidade entre os padrões estabelecidos e os resultados encontrados, com destaque para o OD nas seções 4 e 5, com valores atuais compatíveis com a Classe 4 de frequente anaerobiose.