Resumo A síndrome de quebras de Nijmegen (NBS) é uma doença genética rara que ocorre devido à presença de variantes patogénicas no gene NBN, herdado de forma autossómica recessiva. Esta condição leva à reparação inadequada do DNA e caracteriza-se por imunodeficiência com infeções pulmonares recorrentes, hipersensibilidade à radiação e predisposição para neoplasias, particularmente de origem linfoide. As características fenotípicas principais são a microcefalia grave, que influencia o fenótipo facial, com andar médio da face proeminente e retrognatismo. A perturbação ligeira a moderada do desenvolvimento é frequente e os doentes do sexo feminino geralmente desenvolvem insuficiência ovárica primária. O diagnóstico requer um elevado índice de suspeição e pode ser confirmado por análise genética. São apresentados dois casos de síndrome de quebras de Nijmegen seguidos num hospital terciário.

Abstract Nijmegen breakage syndrome (NBS) is a rare genetic disorder caused by mutations in the NBN gene, which is inherited in an autosomal recessive pattern. The condition results in inadequate DNA repair and is characterized by immunodeficiency with recurrent sinopulmonary infections, increased radiosensitivity, and predisposition to malignancy, particularly of lymphoid origin. The main clinical feature is progressive and severe microcephaly, which affects the facial phenotype, characterized by prominent midface, sloping forehead, and retrognathia. Mild to moderate intellectual impairment is often present and female patients usually develop primary ovarian failure. The diagnosis requires a high index of suspicion and is confirmed by molecular genetic testing. Herein are presented two cases of Nijmegen breakage syndrome followed in a tertiary center.

Abstract The pandemic state, declared by the World Health Organization, on March 11, 2020, has tested society's adaptability and response. A race against time to seek strategies to fight the disease of the new coronavirus contributes to the union of scientists from all over the world, including using nanotechnology Thus, the objective of the study was described the landscape of nanotechnology strategies against COVID-19,highlighting mainly the products and diagnostics, vaccines and treatments that are or can be used. A literature review was carried out in studies published from February to November2020 in PubMed, Scielo, and Google Scholar databases. According to the indexes of the various databases, search terms were used: “new coronavirus 2019”, “COVID-19”, “severe acute respiratory syndrome”Nanotechnology against COVID-19”, “COVID-19 Vaccines” without any language restrictions.The use of nano-based materials has indicated a great potential against dissemination of COVID-19, with the production of products, diagnostics, vaccines and treatments. Our results demonstrate that nanotechnology offers processes, materials and tools that contribute to increase the sensitivity, agility and reliability of the diagnosis, in addition to providing more effective options for prevention, diagnosis and therapies.

Resumen El estado de pandemia, declarado por la Organización Mundial de la Salud, el 11 de marzo de 2020, ha puesto a prueba la capacidad de adaptación y respuesta de la sociedad. Una carrera contra el tiempo para buscar estrategias para combatir la enfermedad del nuevo coronavirus contribuye a la unión de los científicos de todo el mundo, incluyendo el uso de la nanotecnología. Por lo tanto, el objetivo del estudio fue describir el panorama de las estrategias de la nanotecnología contra COVID-19, destacando principalmente los productos y diagnósticos, vacunas y tratamientos que son o pueden ser utilizados. Se realizó una revisión bibliográfica de los estudios publicados entre febrero y noviembre de 2020 en las bases de datos PubMed, Scielo y Google Scholar. Según los índices de las distintas bases de datos, se utilizaron los términos de búsqueda "new coronavirus 2019", "COVID-19", "severeacuterespiratorysyndrome" Nanotechnologyagainst COVID-19", "COVID-19 Vaccines" sin ninguna restricción de idioma. El uso de materiales de base nanométrica ha indicado un gran potencial contra la diseminación del COVID-19, con la producción de productos, diagnósticos, vacunas y tratamientos. Nuestros resultados demuestran que la nanotecnología ofrece procesos, materiales y herramientas que contribuyen a aumentar la sensibilidad, agilidad y fiabilidad del diagnóstico, además de proporcionar opciones más eficaces para la prevención, el diagnóstico y las terapias.

A pandemia pela COVID-19 é um problema grave de Saúde Publica mundial, para a qual não existe tratamento eficaz. Cerca de 20%-33% dos doentes são admitidos em Unidades de Cuidados Intensivos e nestes a taxa de mortalidade é superior a 25%. A morte causada diretamente pela COVID-19 resulta, na maioria dos casos, de uma resposta hiperinflamatória inapropriada à infeção, com libertação de citocinas. Pelo paralelismo com outras doenças inflamatórias imunomediadas, os autores fizeram uma revisão crítica dos mecanismos fisiopatológicos envolvidos e potenciais situações onde a utilização de imunomoduladores, numa estreita janela de oportunidade, pode vir a mudar o prognóstico de alguns doentes.

The COVID-19 pandemic is a serious public health problem worldwide, for which there is no effective therapies. About 20%-33% of patients are admitted to intensive care units and in these the mortality rate is higher than 25%. Death caused directly by the COVID-19 results, in most cases, from an inappropriate hyperinflammatory response to the infection, with the release of cytokines. Due to the parallelism with other immune-mediated inflammatory diseases, the authors made a critical review of the pathophysiological mechanisms involved and potential situations where the use of immunomodulators, in a narrow window of opportunity, may change the prognosis of some patients.

Introdução: A neurossarcoidose é uma manifestação rara da infeção por hepatite C, sobretudo associada a exposição prévia a esquemas com interferão. Apesar de estarmos numa nova era do tratamento da hepatite C, há ainda poucos dados em relação ao papel dos antivíricos de ação direta no tratamento das complicações extrahepáticas da doença, especialmente as raras, como a neurossarcoidose. Sumário: Apresentamos um caso raro de vasculite do Sistema nervoso central associada a elevação dos níveis de enzima conversora da angiotensina, documentação de RNA viral no líquido cefalo-raquidiano num doente com infeção crónica a hepatite C sem tratamentos prévios. O tratamento com antivíricos de ação direta melhorou todas as manifestações clínicas, incluindo redução dos níveis de ECA e de crioglobulinas. Mensagens: A neurossarcoidose é uma rara, mas bem reconhecida complicação da hepatite C, mesmo em doentes sem exposição prévia a interferão. Os agentes de ação direta podem ser úteis na gestão de ambas as doenças.

Background: Neurosarcoidosis is a rare manifestation of hepatitis C virus (HCV) infection, mainly in patients exposed to interferon-based therapies. Although we are living in a new era of HCV treatment, there is still little data concerning the treatment of extrahepatic complications of the disease with direct antiviral agents, especially rare ones such as neurosarcoidosis. Summary: We present a rare case of central nervous system vasculitic lesions in the context of chronic HCV infection associated with mixed cryoglobulinemia, elevated angiotensin-converting enzyme (ACE) levels, and documentation of viral RNA in the cerebrospinal fluid in a treatment-naïve chronic HCV patient. Successful treatment with an interferon-free regimen improved all clinical manifestations, reduced the levels of serum ACE, and reduced the cryoglobulin levels to undetectable. Messages: Neurosarcoidosis and cryoglobulinemia are rare but well-recognized complications of HCV infection, even in treatment-naïve patients. Direct antiviral agents can be useful in the management of this condition.

Abstract Anemia due to iron deficiency is the most common in the world being characterized as a significant public health issue. Therefore, its prevention and treatment are considered important before it becomes either chronic or grievous; the interventions with superior potential are the medical supplementation with iron salts as well as food mineral enhancement. The objectives of this study were to develop fermented dairy beverages supplemented with iron and added by Cerrado fruit pulps: cagaita (Eugenia dysenterica ), coquinho-azedo (Butia capitata), tamarindo (Tamarindus indica), and umbu ( Spondias tuberosa). In addition, the research intended to evaluate the acceptance of these beverages by children and adolescents from public schools in the city of Montes Claros (MG). The methodology consisted in the production of dairy beverages followed by the evaluation of their quality through physicochemical and microbiological analyses. Posteriorly, children and adolescents assessed the sensorial acceptance. The analyses performed presented satisfactory results for physicochemical and microbiological properties regarding the acceptance of the product. The cagaita and coquinho azedo based dairy beverages were the most accepted whether compared with tamarindo and umbu beverages. The fermented dairy beverage supplemented with iron and added by Cerrado fruits come up as a feasible alternative for dietary supplementation, and can promote beneficial effects in human health due to their sensorial acceptance.

OBJECTIVE: The objective of this study was to compare the antimicrobial effect of mouthwashes containing Calendula officinalis L., Camellia sinensis (L.) Kuntze and 0.12% chlorhexidine digluconate on the adherence of microorganisms to suture materials after extraction of unerupted third molars. MATERIAL AND METHODS: Eighteen patients with unerupted maxillary third molars indicated for extraction were selected (n=6 per mouthwash). First, the patients were subjected to extraction of the left tooth and instructed not to use any type of antiseptic solution at the site of surgery (control group). After 15 days, the right tooth was extracted and the patients were instructed to use the Calendula officinalis, Camellia sinensis or chlorhexidine mouthwash during 1 week (experimental group). For each surgery, the sutures were removed on postoperative day 7 and placed in sterile phosphate-buffered saline. Next, serial dilutions were prepared and seeded onto different culture media for the growth of the following microorganisms: blood agar for total microorganism growth; Mitis Salivarius bacitracin sucrose agar for mutans group streptococci; mannitol agar for Staphylococcus spp.; MacConkey agar for enterobacteria and Pseudomonas spp., and Sabouraud dextrose agar containing chloramphenicol for Candida spp. The plates were incubated during 24-48 h at 37ºC for microorganism count (CFU/mL). RESULTS: The three mouthwashes tested reduced the number of microorganisms adhered to the sutures compared to the control group. However, significant differences between the control and experimental groups were only observed for the mouthwash containing 0.12% chlorhexidine digluconate. CONCLUSIONS: Calendula officinalis L. and Camellia sinensis (L.) Kuntze presented antimicrobial activity against the adherence of microorganisms to sutures but were not as efficient as chlorhexidine digluconate.

Lipase from Candida rugosa was immobilized by covalent attachment on hybrid SiO2-chitosan obtained by sol-gel technique. A comparative study between free and immobilized lipase was provided in terms of pH, temperature, kinetic parameters and thermal stability on the olive oil hydrolysis. The pH and temperature for maximum activity shifted from 7.0 and 45 ºC for the free lipase to 7.5 and wide range of temperature (40-50 ºC) after immobilization. Kinetics parameters were found to obey Michaelis-Menten equation and K M values indicated that immobilization process reduced the affinity of enzyme-substrate; however Kd values revealed an increase of thermal stability of lipase.

Para analisar a associação entre fatores natais com a gravidade da lesão da substância branca (LSB) cerebral neonatal, controlando o peso de nascimento, identificaram os neonatos pela ultra-sonografia craniana, que foram divididos em: aqueles com evolução da LSC para resolução da imagem ao ultra-som (menor gravidade) e, aqueles que evoluiram com formação de cistos e/ou ventriculomegalia e/ou hemorragia (maior gravidade). Doze variáveis (hiponatremia, anemia, infecção, retinopatia, displasia broncopulmonar, hipoalbuminemia, persistência do canal arterial, audiometria alterada, desconforto respiratório precoce, peso de nascimento <2500g, peso por categoria e prematuridade) tiveram diferenças entre os dois grupos (p<0,05), sendo que 9 (hiponatremia, infecção, retinopatia, hipoalbuminemia, persistência do canal arterial, desconforto respiratório precoce, baixo peso, prematuridade e peso por categorias) se mantiveram estatisticamente diferentes (p<0,01) após análise por regressão logística. Quando analisadas por categoria de peso de nascimento, nenhuma variável demonstrou significância estatística. O estudo sugere que o peso de nascimento é o maior fator - provavelmente o único - associado com gravidade da LSB cerebral neonatal.

To analyze the association of natal factors with the severity of neonatal brain white matter lesion (WML) by controlling the birth weight, we identified newborns with WML who were divided into: those with WML evolution towards resolution of the ultrasound image (less severe), and those who evolved with cist formation and/or ventriculomegalia and/or hemorrhage (greater severity). There were differences among the twelve variables (hyponatremia, anemia, infection, retinopathy, broncopulmonary dysplasia, hypoalbuminemia, persistence of the arterial canal, altered audiometry, early respiratory distress, birth weigh below 2,500 g, weight per category, and prematurity) between the two groups (p<0.05), being that nine variables (hyponatremia, infection, retinopathy, hypoalbuminemia, persistence of the arterial canal, early respiratory distress, low weight, prematurity, and weight per category) remained statistically different (p<0.01) after the logistic regression analysis. When the variables were analyzed by birth weight category none of them presented statistical significance. This study suggests that birth weight is the major factor - likely the only one - associated to the severity of neonatal brain white matter lesion.

OBJETIVOS: descrever a taxa de letalidade hospitalar e fatores correlacionados com o óbito em crianças com lesão da substância branca cerebral (LSB). MÉTODOS: estudo retrospectivo realizado de janeiro de 1994 a dezembro de 2001. Os neonatos com LSB foram divididos em sobreviventes ou óbito, e seus prontuários revisados de forma cega para a evolução. Dos atestados de óbito, a causa de morte. Os grupos foram comparados por coeficientes de correlação. Calculada a taxa de letalidade hospitalar. RESULTADOS: foram encontrados 93 casos de LSB e sete óbitos. A taxa de letalidade hospitalar foi de 8,2%, (IC95%: 2,4-14,0), independentemente da época de instalação da lesão, e de 10,3% (IC95%: 3,3-17,3) para aqueles de ocorrência pré/perinatal. O óbito correlacionou-se com: escore de Apgar, apresentação não-cefálica, idade gestacional, hiperglicemia, hipercalcemia, convulsão, insuficiência respiratória e atelectasia. CONCLUSÕES: a letalidade hospitalar foi de 10,3% e as seguintes hipóteses foram geradas: a asfixia perinatal deve ser o principal fator etiológico, direto e indireto (agravando a expressão das doenças da prematuridade e da infecção), da mortalidade pré/perinatal entre neonatos com LSB; e o escore de Apgar do 5o minuto <7, associado à LSB, são marcadores para o diagnóstico de asfixia perinatal.

OBJECTIVES: to describe hospital lethality rates and factors correlated to death in neonates with brain white matter lesions. METHODS: a retrospective study was performed from January 1994 to December 2001. Neonates with white brain matter lesions were divided into survival and death groups and their medical files reviewed through the single blind method to determine evolution. Death certificates provided the cause of death. The groups were compared through correlation coefficients. Hospital lethality rate was calculated. RESULTS: ninety three cases of white brain matter lesions and seven deaths were determined. Hospital lethality rate was of 8.2.% (95%CI: 2.4-14.0) independently from lesion occurrence time, and of 10.3% (95%CI: 3.3-17.3) for deaths occurred during prenatal and perinatal periods. Death was correlated to: Apgar score, non-cephalic presentation, gestational age, hyperglicemia, hypercalcemia, convulsion, respiratory insufficiency and atelectasy. CONCLUSIONS: hospital lethality was of 10.3% generating the following hypothesis: perinatal asphyxia must be the principal direct and indirect etiologic factor (aggravating the expression of prematurity and infection diseases), of prenatal and perinatal mortality among newborns with white brain matter lesions; and <7 Apgar score in the 5th minute associated to brain white matter lesions, are markers for perinatal asphyxia diagnosis.