RT-LAMP Multicenter Study for SARS-CoV-2 Genome Molecular Detection in Brazilian Swab and Saliva Samples.

Reverse transcription loop-mediated isothermal amplification (RT-LAMP) is a rapid method that can replace RT-qPCR. A simple molecular assay for SARS-CoV-2 RNA detection in gold-standard diagnosis through swabs and alternative specimens such as saliva could be helpful in promoting genomic surveillance. A multicenter study was conducted to evaluate the RT-LAMP assay method as an alternative for the molecular detection of SARS-CoV-2 lineages in swab and saliva samples. A total of 350 swabs from individuals with (n = 276) or without (n = 74) COVID-19 tested by RT-qPCR were collected. Paired saliva was also collected from 90 individuals who had SARS-CoV-2 RNA that was detectable (n = 30) or undetectable (n = 60) via RT-qPCR. For the RT-LAMP methodology, six primers were used for ORF1 gene amplification. As for SARS-CoV-2 genotyping, 39 swabs had the whole genome sequenced by MinION. The sensitivity of RT-LAMP to the swab was 90.2%. For the swab samples with Ct ≤ 30, the sensitivity improved by 96%. Considering saliva with Ct ≤ 30 in RT-qPCR testing, the RT-LAMP sensitivity was 100%. The RT-LAMP specificity was 100% for both the swab and saliva samples. This RT-LAMP assay was capable of detecting all the SARS-CoV-2 lineages circulating in the Brazilian swab samples. The RT-LAMP method has significant potential for use in clinical routines since it was capable of detecting SARS-CoV-2 RNA in swab and saliva samples.

EpViX: A cloud-based tool for epitope reactivity analysis and epitope virtual crossmatching to identify low immunologic risk donors for sensitized recipients.

One of the challenges facing solid organ transplantation programs globally is the identification of low immunological risk donors for sensitized recipients by HLA allele genotype. Because recognition of donor HLA alleles by host antibodies is at the core of organ rejection, the objective of this work was to develop a new version of the EpHLA software, named EpViX, which uses an HLAMatchmaker algorithm and performs automated epitope virtual crossmatching at the initiation of the organ donation process. EpViX is a free, web-based application developed for use over the internet on a tablet, smartphone or computer. This program was developed using the Ruby programming language and the Ruby-on-Rails framework. To improve the user experience, the EpViX software interface was developed based on the best human­computer interface practices. To simplify epitope analysis and virtual crossmatching, the program was integrated with important available web-based resources, such as OPTN, IMGT/HLA and the International HLA Epitope Registry. We successfully developed a program that allows people to work collaboratively and effectively during the donation process by accurately predicting negative crossmatches, saving time and other resources.

[Tuberous sclerosis in childhood]. / Esclerose tuberosa na infância.

Tuberous sclerosis is an autosomal dominant disease that results from mutations in one of two tumor suppressor genes, TSC1 and TSC2. We are reporting a two-year-old girl who presented with hypopigmented macules (ash leaf) in the skin and small erythematous facial papules (angiofibromas). Her mother was known to have tuberous sclerosis that was diagnosed at age seven. Although the signs of tuberous sclerosis were specifically looked for in this patient because of her mother, subtle angiofibromas in a young child can be easily missed.

[Vitiligo in a patient with pachydermoperiostosis: a fortuitous association?]. / Vitiligo em paciente com paquidermoperiostose: uma associação fortuita?

Pachydermoperiostosis (PDP) is a rare hereditary disorder characterized by pachydermia, digital clubbing, arthritis and periosteal hypertrophy. We report the case of a patient with PDP who developed vitiligo. While the association of autoimmune diseases and some dermatological disorders with PDP has been reported before, this appears to be the first described case of vitiligo in association with PDP. The main clinical features of PDP are reviewed and the differential diagnosis is discussed.

Prevalence of true hypertensive crises and appropriateness of the medical management in patients with high blood pressure seen in a general emergency room.

BACKGROUND: High blood pressure is a common reason for patients to seek an emergency room, and many of them may possibly be wrongly diagnosed with hypertensive crisis and, consequently, be inappropriately treated. OBJECTIVE: To analyze the cases of patients seen in a general emergency room because of high blood pressure as for meeting the criteria for the diagnosis of hypertensive crisis and the appropriateness of medical management. METHODS: Of the 1012 patients consecutively seen in a private referral general emergency room in the city of São Luís, State of Maranhão, between August and November 2003, 198 (19.56%) had a main diagnosis of high blood pressure in that visit. Of these, proper information could only be obtained from the patient charts of 169 patients; 54.4% of them were females with a mean age of 53.3 +/- 15.2 years. Data regarding patients and the attendant physicians were collected, and each case was classified as an urgency, emergency or pseudohypertensive crisis; the medical management was classified as appropriate or inappropriate. We also sought to identify the factors associated with the medical management and with the use of antihypertensive medication. RESULTS: Criteria for the characterization of a hypertensive crisis were present in only 27 patients (16%), and all were classified as urgencies. Medical management was considered appropriate in 72 cases (42.6%), and was neither influenced by specialty (p=0.5) nor by the physician's experience (p=0.9). Blood pressure levels, but not the presence or absence of symptoms, were predictive of the use of antihypertensive medication (p<0.001). CONCLUSION: In the population analyzed, less than one fifth of the patients seen in an emergency room with a presumed hypertensive crisis met defined criteria for this diagnosis. Medical management was considered appropriate in less than half of the occurrences.

Prevalência de verdadeiras crises hipertensivas e adequação da conduta médica em pacientes atendidos em um pronto-socorro geral com pressão arterial elevada / Prevalence of true hypertensive crises and appropriateness of the medical management in patients with high blood pressure seen in a general emergency room

FUNDAMENTO: Pressão arterial elevada é motivo freqüente de procura por pronto-socorro, sendo possível que muitos pacientes recebam erroneamente um diagnóstico de crise hipertensiva e, conseqüentemente, um tratamento inapropriado. OBJETIVO: Analisar os casos de pacientes com pressão arterial elevada atendidos em um pronto-socorro geral, quanto ao preenchimento de critérios para o diagnóstico de crise hipertensiva e a adequação da conduta médica. MÉTODOS: Dos 1.012 pacientes atendidos consecutivamente em um pronto-socorro geral privado de referência, em São Luís, Maranhão, entre agosto e novembro de 2003, 198 (19,56 por cento) tiveram como diagnóstico principal do atendimento pressão arterial elevada. Destes, de apenas 169 pacientes foi possível obter informação adequada nos boletins de atendimento, sendo 54,4 por cento do sexo feminino, com média de idade de 53,3 ± 15,2 anos. Coletaram-se dados referentes aos pacientes e aos médicos atendentes, a fim de classificar cada caso como urgência, emergência ou pseudocrise hipertensiva, e a conduta médica como adequada ou inadequada. Procurou-se ainda identificar os fatores associados à conduta e ao uso de medicação anti-hipertensiva. RESULTADOS: Em apenas 27 pacientes (16 por cento) houve critérios para caracterização de uma crise hipertensiva, sendo todos estes classificados como urgências. A conduta médica foi considerada adequada em 72 casos (42,6 por cento), não sofrendo influência da especialidade (p = 0,5) nem da experiência do médico (p = 0,9). Níveis tensionais, e não a presença ou ausência de sintomas, foram preditivos do uso de medicação anti-hipertensiva (p < 0,001). CONCLUSÃO: Na população analisada, menos de 1/5 dos pacientes atendidos em um pronto-socorro com suposta crise hipertensiva apresentou critérios definidos para tal diagnóstico. A conduta médica foi considerada adequada em menos da metade dos atendimentos.

BACKGROUND: High blood pressure is a common reason for patients to seek an emergency room, and many of them may possibly be wrongly diagnosed with hypertensive crisis and, consequently, be inappropriately treated. OBJECTIVE: To analyze the cases of patients seen in a general emergency room because of high blood pressure as for meeting the criteria for the diagnosis of hypertensive crisis and the appropriateness of medical management. METHODS: Of the 1012 patients consecutively seen in a private referral general emergency room in the city of São Luís, State of Maranhão, between August and November 2003, 198 (19.56 percent) had a main diagnosis of high blood pressure in that visit. Of these, proper information could only be obtained from the patient charts of 169 patients; 54.4 percent of them were females with a mean age of 53.3 ± 15.2 years. Data regarding patients and the attendant physicians were collected, and each case was classified as an urgency, emergency or pseudohypertensive crisis; the medical management was classified as appropriate or inappropriate. We also sought to identify the factors associated with the medical management and with the use of antihypertensive medication. RESULTS: Criteria for the characterization of a hypertensive crisis were present in only 27 patients (16 percent), and all were classified as urgencies. Medical management was considered appropriate in 72 cases (42.6 percent), and was neither influenced by specialty (p=0.5) nor by the physician's experience (p=0.9). Blood pressure levels, but not the presence or absence of symptoms, were predictive of the use of antihypertensive medication (p<0.001). CONCLUSION: In the population analyzed, less than one fifth of the patients seen in an emergency room with a presumed hypertensive crisis met defined criteria for this diagnosis. Medical management was considered appropriate in less than half of the occurrences.

[Hemophagocytic Syndrome: a clinical presentation of systemic lupus erythematosus]. / Síndrome hemofagocítica uma apresentação inicial do lúpus eritematoso sistêmico.

Hemophagocytic Syndrome is a clinical condition characterized by the activation of either macrophages or histiocytes with a prominent hemophagocytosis feature in the bone marrow and other reticuloendothelial systems. It leads to the phagocytosis of erythrocytes, leukocytes, platelets, and their precursors. The presence of hemophagocytosis can be associated to infections, malignancies, autoimmune diseases, drugs and a variety of other medical conditions. We report a case of a previously healthy 23 year-old woman that developed hemophagocytosis at the same time that she fulfilled diagnostic criteria for systemic lupus erythematosus. Lupus-related hemophagocytic syndrome is a rare and potentially fatal entity. It offers significant differential diagnosis challenges and requires urgent therapeutic intervention. There are only few cases reported in the literature. In this article, we briefly reviewed what is currently known about this syndrome. However, much is still needed in order to better understand its causes, all the immunopathogenic mechanisms, as well as its clinical aspects.