Kidney failure secondary to hereditary xanthinuria due to a homozygous deletion of the XDH gene, in the absence of overt kidney stone disease.

Hereditary xanthinuria (HXAN) is a rare metabolic disorder that results from mutations in either the xanthine dehydrogenase (XDH) or the molybdenum cofactor sulfurase genes (MOCOS), respectively defining HXAN type I and type II. Hypouricemia, hypouricosuria, and abnormally high plasma and urine levels of xanthine, causing susceptibility to xanthine nephrolithiasis and deposition of xanthine crystals in tissues, are the metabolic hallmarks of HXAN. Several pathogenic variants in the XDH gene have so far been identified in patients with HXAN type I, but the clinical phenotype associated with the whole deletion of the human XDH gene is unknown. Herein, we report the case of a woman diagnosed with HXAN, whose molecular genetic testing revealed a homozygous microdeletion involving the XDH gene. Distinctive features of her medical history were the diagnosis of arterial hypertension and microalbuminuria at 22 years of age; a single pregnancy, at the age of 25, complicated by proteinuria and transient kidney function deterioration in the third trimester; unexplained severe hypouricaemia incidentally discovered during pregnancy; inability to breastfeed her newborn daughter due to primary agalactia; chronic kidney disease (CKD) stage 3 diagnosed at age 35; and progression to end-stage kidney disease over the next 12 years. Protocol non-invasive laboratory and imaging investigation was not informative as to the cause of CKD. This is the first description of the clinical phenotype associated with a natural knockout of the human XDH gene. Despite the lack of kidney histopathology data, the striking similarities with the phenotypes exhibited by comparable murine models validates the latter as useful sources of mechanistic insights for the pathogenesis of the human disease, supporting the hypothesis that the absence of xanthine dehydrogenase activity might represent a susceptibility factor for chronic tubulointerstitial nephritis, even in patients without kidney stones.

Effects of Aspirin on Kidney Biopsy Bleeding Complications: A Systematic Review and Meta-Analysis (PROSPERO 2021 CRD42021261005).

Postprocedural bleeding is the main complication of percutaneous kidney biopsy (PKB). Therefore, aspirin is routinely withheld in patients undergoing PKB to reduce the bleeding risk. The authors aimed to examine the association between aspirin use and bleeding during PKB. This systematic review and meta-analysis was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The article search was performed on MEDLINE and Scopus using queries specific to each database. Article inclusion was limited to primary studies. The meta-analysis compared the risk of major bleeding events between the aspirin-exposed versus nonexposed group. Pooled effect estimate was examined using random effects presented as odds ratio with 95% confidence intervals. Heterogeneity was assessed through Cochrane I 2 test statistics. Sensitivity and subgroup analyses were also performed according to kidney type. Ten studies were included in the review and four studies were included in the meta-analysis, reviewing a total of 34,067 PKBs. Definitions for significant aspirin exposure were inconsistent between studies, limiting comparisons. Studies with broader definitions for aspirin exposure mostly showed no correlation between aspirin use and postbiopsy bleeding. Studies with strict definitions for aspirin exposure found an increased risk of hemorrhagic events in the aspirin-exposed group. No significant differences were found between the aspirin-exposed and comparison groups regarding major bleeding events (odds ratio 1.72; 95% confidence interval 0.50 to 5.89, I 2 =84%). High-quality evidence on the effect of aspirin on the bleeding risk is limited. Our meta-analysis did not show a significantly increased risk of major bleeding complications in aspirin-exposed patients. Further studies are needed to define a more comprehensive approach for clinical practice.

COVID-PA Bulletin: reports on artificial intelligence-based forecasting in coping with COVID-19 pandemic in the state of Pará, Brazil. / Boletim COVID-PA: relatos sobre projeções baseadas em inteligência artificial no enfrentamento da pandemia de COVID-19 no estado do Pará.

OBJECTIVE: To report the university extension research result entitled 'The COVID-PA Bulletin', which presented forecasts on the behavior of the pandemic in the state of Pará, Brazil. METHODS: The artificial intelligence technique also known as 'artificial neural networks' was used to generate 13 bulletins with short-term forecasts based on historical data from the State Department of Public Health information system. RESULTS: After eight months of predictions, the technique generated reliable results, with an average accuracy of 97% (observed for147 days) for confirmed cases, 96% (observed for 161 days) for deaths and 86% (observed for 72 days) for Intensive Care Unit bed occupancy. CONCLUSION: These bulletins have become a useful decision-making tool for public managers, assisting in the reallocation of hospital resources and optimization of COVID-19 control strategies in various regions of the state of Pará.

Tweet me: conferencing in the era of COVID-19 and 280 characters.

The European Renal Association - European Dialysis and Transplant Association (ERA-EDTA) Social Media (SoMe) Team provides Twitter coverage of the annual congress. During the coronavirus disease 2019 (COVID-19) pandemic, #ERAEDTA20 was the first major Nephrology congress to be delivered virtually. The effect of The SoMe Team and the consequences of the COVID-19 pandemic have not been explored previously. Tweets of the ERA-EDTA congresses 2016-20, using official hashtags, were evaluated. Metadata of each tweet were collected prospectively; original tweets, retweets and evidence-based tweets were identified. The gender of tweet author and location of Twitter activity were established. Network maps were created to ascertain the degree of polarization between the 2019 and 2020 Twitter activity, using Gephi 0.9.2. Between 2016 and 2019, the total number of tweets and the number of tweet authors increased, as did the proportion of female authors (20% versus 27%). In 2019, there were fewer multimedia and evidence-based tweets: 8% versus 20% in 2016. Globally, there were fewer Nephrology conferences in 2020 and the number of tweets per day reduced by 53% from 2019. In 2020, The ERA-EDTA congress saw an increase in authors of 9% and only an 8% reduction in tweets. It was easier to disseminate information in 2020, measured by increased correlation coefficient (0.14 versus 0.12 in 2019). A higher proportion of countries was represented (n = 55 versus n = 48 in 2019) and a higher proportion of tweets came from women. In conclusion, the introduction of SoMe Team was associated with increased usage of Twitter and ease of information dissemination. Compared with #nephtwitter activity as a whole in 2020, SoMe Team has mitigated some of the pandemic's deleterious effects in scientific dissemination, relevant to Nephrology.

Artificial neural networks for short-term forecasting of cases, deaths, and hospital beds occupancy in the COVID-19 pandemic at the Brazilian Amazon.

The first case of the novel coronavirus in Brazil was notified on February 26, 2020. After 21 days, the first case was reported in the second largest State of the Brazilian Amazon. The State of Pará presented difficulties in combating the pandemic, ranging from underreporting and a low number of tests to a large territorial distance between cities with installed hospital capacity. Due to these factors, mathematical data-driven short-term forecasting models can be a promising initiative to assist government officials in more agile and reliable actions. This study presents an approach based on artificial neural networks for the daily and cumulative forecasts of cases and deaths caused by COVID-19, and the forecast of demand for hospital beds. Six scenarios with different periods were used to identify the quality of the generated forecasting and the period in which they start to deteriorate. Results indicated that the computational model adapted capably to the training period and was able to make consistent short-term forecasts, especially for the cumulative variables and for demand hospital beds.

Boletim COVID-PA: relatos sobre projeções baseadas em inteligência artificial no enfrentamento da pandemia de COVID-19 no estado do Pará / Boletín COVID-PA: informes de proyecciones basadas en inteligencia artificial para enfrentar la pandemia COVID-19 en el estado de Pará, Brasil / COVID-PA Bulletin: reports on artificial intelligence-based forecasting in coping with COVID-19 pandemic in the state of Pará, Brazil

Objetivo: Relatar o produto de pesquisa e extensão universitária denominado Boletim COVID-PA, que apresentou projeções sobre o comportamento da pandemia no estado do Pará, Brasil. Métodos: Utilizou-se da técnica de inteligência artificial conhecida como 'redes neurais artificiais', para geração de 13 boletins com projeções de curto prazo baseadas nos dados históricos do sistema da Secretaria de Estado de Saúde Pública. Resultados: Após oito meses de projeções, a técnica gerou resultados confiáveis, com precisão média de 97% (147 dias observados) para casos confirmados, 96% (161 dias observados) para óbitos e 86% (72 dias observados) para ocupação de leitos de unidade de terapia intensiva. Conclusão: Esses boletins tornaram-se um instrumento útil para a tomada de decisão de gestores públicos, auxiliando na realocação de recursos hospitalares e otimização das estratégias de controle da COVID-19 nas diversas regiões do estado do Pará.

Objetivo: Reporte el resultado de la investigación y extensión universitaria denominada 'Boletim COVID-PA' que presentó proyecciones sobre el comportamiento de la pandemia en el estado de Pará, con un enfoque práctico y computacionalmente eficiente. Métodos: Fue utilizada una técnica de inteligencia artificial denominadas Redes Neurales para generar trece boletines con proyecciones basado en datos históricos del sistema de la Secretaría de Salud Pública. Resultados: Después de ocho meses de previsiones, la técnica genero resultados confiables con una precisión promedio de 97% (147 días observados) para casos confirmados, 96% (161 días observados) para los fallecimientos y 86% (72 días observados) para la ocupación de camas en las unidades de cuidados intensivos. Conclusión: Estos boletines se convirtieron en una herramienta para la toma de decisiones, auxiliando en la redistribución de recursos en los hospitales en el estado de Pará.

Objective: To report the university extension research result entitled 'The COVID-PA Bulletin', which presented forecasts on the behavior of the pandemic in the state of Pará, Brazil. Methods: The artificial intelligence technique also known as 'artificial neural networks' was used to generate 13 bulletins with short-term forecasts based on historical data from the State Department of Public Health information system. Results: After eight months of predictions, the technique generated reliable results, with an average accuracy of 97% (observed for147 days) for confirmed cases, 96% (observed for 161 days) for deaths and 86% (observed for 72 days) for Intensive Care Unit bed occupancy. Conclusion: These bulletins have become a useful decision-making tool for public managers, assisting in the reallocation of hospital resources and optimization of COVID-19 control strategies in various regions of the state of Pará.

The rise of #SocialMedia in the Nephrology world.

Social media (SoMe) use has increased exponentially in the last decade and is having a profound impact on the Nephrology world. The use of these platforms is contributing to continuous educational and professional development by exposing nephrologists to new research, allowing them to connect with experts, to exchange experiences, or to engage in scientific debates. Here, we introduce the basics of SoMe, focusing on Twitter because it is the most popular SoMe platform used by the medical community for professional purposes. We will review the main education platforms and tools available, such as visual abstracts, blogs, tweetorials, videos, and podcasts. We will also focus on their different applications for educational purposes such as online journal clubs, webinars, or online games. The role of SoMe in academic promotion, dissemination of research, expansion of nephrology societies and coverage of scientific events will also be discussed. In the end, we will reflect on SoMe risks and limitations, much-needed developments in SoMe platforms and the challenges ahead of us.

Anaplastic lymphoma mimicking breast carcinoma / Linfoma anaplásico mimetizando carcinoma mamário

This case describes an uncommon presentation of ALK-negative anaplastic large T-cell lymphoma with breast infiltration, mimicking triple-negative carcinoma. The incidence of ALK-negative anaplastic large T-cell lymphoma usually occurs in adults in their fifth and sixth decade of life and can affect lymph nodes and extranodal sites, including skin, soft tissue, and gastrointestinal tract. The non-Hodgkin's lymphoma of the breast is uncommon, accounting for 0.04 to 0.05% of all malignant breast tumors. Diagnosis of ALK-negative anaplastic large T-cell lymphoma is challenging both to physicians and pathologists. Based on the complete medical history, clinical and imaging exams and histopathological evaluation of the lesion site biopsy, it is possible to establish an adequate diagnosis. The case describes a woman aged 37 years with palpable nodules in the left breast as well as erythematous lesions on the right leg. The analysis of the breast nodules biopsy shows that they mimic triple-negative carcinoma. However, only with immunohistochemical examination was it possible to verify the expression of the CD30 antigen, and only after a complete systemic evaluation, the diagnosis of ALK-negative anaplastic large T-cell lymphoma was performed. Misdiagnosis can lead to inadequate therapy and result in disease progression or unnecessary damages to the patient.

Este caso descreve uma incomum apresentação de linfoma anaplásico de grandes células T ALK negativo com infiltrado mamário, mimetizando carcinoma triplo negativo. A incidência do linfoma anaplásico de grandes células T ALK negativo, ocorre comumente em adultos na quinta e sexta década de vida e pode acometer linfonodos e locais extranodais, incluindo pele, tecido mole e trato gastrointestinal. O linfoma não-Hodgkin da mama é incomum, compondo 0,04 a 0,05% de todos os tumores de mama malignos. O diagnóstico de linfoma anaplásico de grandes células T ALK negativo é desafiador tanto para clínicos como para patologistas. O estabelecimento de um diagnóstico adequado é possível com base em histórico médico completo, exames clínicos e de imagem e avaliação histopatológica da biópsia do local da lesão. O caso relata uma mulher de 37 anos com nódulos palpáveis na mama esquerda em conjunto com lesões eritematosas na perna direita. Ao se analisar a biópsia dos nódulos da mama, esses mimetizavam carcinoma triplo negativo, no entanto, somente com exame imunohistoquímico foi possível verificar a expressão do antígeno CD30, e, apenas após uma avaliação sistêmica completa, foi realizado o diagnóstico de linfoma anaplásico de grandes células T ALK negativo. O diagnóstico equivocado pode acarretar terapia inadequada e resultar em progressão da doença ou em danos desnecessários ao paciente.

Early Versus Late Conversion From Immediate to Prolonged-Release Tacrolimus After Renal Transplantation: Clinical Effects and Treatment Costs.

INTRODUCTION: Prolonged-release tacrolimus (PR-TAC) was associated with improved renal function after transplantation when compared to immediate-release tacrolimus (IR-TAC) although evidence is still scarce. This study aimed to compare clinical outcomes and treatment costs in patients who converted from IR-TAC to PR-TAC during the first year after renal transplantation (RT) (early converters [EC]) or after that period (late converters [LC]). METHODS: We performed a retrospective study including 79 patients (EC, 39; LC, 41) which were followed up over 60 months. A mixed-effects approach was used to investigate the differences between both groups regarding renal and metabolic outcomes as well as treatment costs. RESULTS: The median time from RT to conversion was 3 months for EC and 25 months for LC. For both EC and LC, a significant increase in estimated glomerular filtration rate was observed after conversion (5.2 and 4.9 mL/min per 1.73 m2, respectively). During the first year after RT, EC presented a higher estimated glomerular filtration rate and inferior tacrolimus trough levels when compared to LC, with higher mean treatment costs associated. However, thereafter, these outcomes were similar between groups over the remaining time. At the end of follow-up, no significant differences were found regarding allograft acute rejection (2.6% and 2.4%), new-onset diabetes (15.7% vs 12.2%) or cardiovascular events (5.2% vs 7.3%). CONCLUSIONS: There was a significant benefit on renal function after conversion from IR-TAC to PR-TAC. During the first year after RT, EC presented improved renal function, but higher treatment costs. None of these differences persisted at the end of follow-up.

The role of fibroblast growth factor 23 in chronic kidney disease-mineral and bone disorder.

Fibroblast Growth Factor 23 (FGF-23) is a bone-derived hormone involved in the regulation of phosphate homeostasis. FGF-23 levels are extremely elevated in Chronic Kidney Disease (CKD) and there is evidence supporting the role of this hormone in the pathogenesis of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD). Furthermore, recent data associates FGF-23 with the pathogenesis of systemic complications of CKD-MBD. The increasing evidence that the consequences of abnormal mineral metabolism are not restricted to bone disease changed the approach to the pathophysiology and treatment of disturbed bone and mineral metabolism in CKD patients. FGF-23 has been proposed to be the initial adaptive response in early CKD to protect the organism from the adverse effects of phosphate retention. Increased levels of FGF-23 observed in CKD patients are associated with cardiovascular mortality risk and was shown to mediate direct, "off-target" toxicity to the heart. This report aims to review the relevant aspects of the physiology of FGF-23 in bone biology and mineral homeostasis and the role of FGF-23 in the pathophysiology of CKD-BMD and its clinical implications.