Disqueratose Congénita com Telómeros Curtos numa Doente do Sexo Feminino

Dyskeratosis Congenita (DC) is a hereditary and multisystemic syndrome, with heterogeneous clinical and genetic manifestations, characterized as a disease associated with maintenance of defects and early telomere shortening. It is a rare condition, with an estimated annual incidence of 1 in 1 million individuals, and is more common in males than females, with an approximate ratio of 10:1. The main initial clinical manifestations are disorders of cutaneous pigmentation, nail dystrophy and abnormalities in the oropharynx, usually occurring between five and twelve years of age. Bone marrow failure (BMF) is the leading cause of death related to this disease. We present a case report of a child, female, two years old, who presented the cardinal signs and symptoms of DC at an early age, and we emphasize the importance of multidisciplinary monitoring of the patient.A Disceratose Congênita (DC) é uma síndrome hereditária e multissistêmica, com manifestações clínicas e genéticas heterogêneas, caracterizada como uma doença associada à manutenção de defeitos e encurtamento precoce dos telômeros. É uma condição rara, com incidência anual estimada de 1 em 1 milhão de indivíduos, e é mais comum em homens que em mulheres, com uma proporção aproximada de 10: 1. As principais manifestações clínicas iniciais são distúrbios da pigmentação cutânea, distrofia ungueal e anormalidades na orofaringe, ocorrendo geralmente entre cinco e doze anos de idade. A falência da medula óssea (BMF) é a principal causa de morte relacionada a esta doença. Apresentamos um relato de caso de uma criança do sexo feminino, com dois anos de idade, que apresentou sinais e sintomas cardinais de DC em tenra idade, e enfatizamos a importância do monitoramento multidisciplinar do paciente

COVID-19 e Manifestações Cutâneas: O que foi Reportado? Uma Metanálise de Estudos Observacionais e Casos Clínicos

Background: Coronavirus disease (COVID-19) is related to several extrapulmonary disorders; however, little is known about the skin disorders characteristics and prevalence. Objetive: Summarize and evaluate the skin disorders’ characteristics and prevalence reported in the literature. Methods: We conducted a search on PubMed, SciELO and ScienceDirect between 01/01/2020 to 09/28/2020. The target population was patients with skin disorder and a positive diagnosis for COVID-19. All observational studies, research letters, case series and case reports were selected. We evaluated observational studies using Random- effects models to calculate the weighted mean prevalence and 95% confidence interval (CI). We evaluated the case studies using the chi-square test for dichotomous variables and the Mann-Whitney test for continuous variables. Results: Eighty-seven patients from case reports and six observational studies with 363 patients were selected. Eleven types of skin disorders in COVID-19 confirmed patients are described. Skin disorder weighted mean prevalence was 9.9% (95% CI: 3.7-24.1). Maculopapular rash was the most prevalent disorder (37.5%; 95% CI: 21-57%). Latency was significantly lower in patients over 60 years old (p=0.041). Conclusion: Each cutaneous manifestation has its particularities and may or may not accompany other signs and symptoms. It is possible for the elderly to have COVID-19- related skin disorders early.Introdução: A doença por coronavírus (COVID-19) está relacionada a vários distúrbios extrapulmonares; entretanto, pouco se sabe sobre as características e prevalência das doenças cutâneas. Objetivo: Resumir e avaliar as características e prevalência das doenças cutâneas relatadas na literatura em doentes com COVID-19. Métodos: Foi realizada uma busca no PubMed, SciELO e ScienceDirect entre 01/01/2020 a 28/09/2020. A população-alvo inclui pacientes com doenças de pele e diagnóstico positivo para COVID-19. Todos os estudos observacionais, cartas de pesquisa, relatos de casos/séries foram selecionados. Avaliamos estudos observacionais usando modelos de efeitos aleatórios para calcular a prevalência média ponderada e intervalo de confiança (IC) de 95%. Avaliamos os estudos de caso usando o teste do qui-quadrado para variáveis dicotômicas e o teste de Mann-Whitney para variáveis contínuas. Resultados: Oitenta e sete pacientes de relatos de casos e seis estudos observacionais com 363 pacientes foram selecionados. São descritos onze tipos de doenças de pele em pacientes confirmados por COVID-19. A prevalência média ponderada de distúrbios cutâneos foi de 9,9% (IC 95%: 3,7-24,1). O exantema maculopapular foi o distúrbio mais prevalente (37,5%; IC 95%: 21-57%). A latência foi significativamente menor em pacientes com mais de 60 anos (p=0,041). Conclusão: Cada manifestação cutânea tem suas particularidades e pode ou não acompanhar outros sinais e sintomas. É possível que os idosos tenham doença cutânea relacionada ao COVID-19 precocemente

Expression of estrogen and progesterone receptors, clinical and histopathological analysis in feline injection site sarcomas

O sarcoma de aplicação em felino (SAF) é uma neoplasia de origem mesenquimal que surge após a aplicação de vacinas ou medicamentos. Tem caráter agressivo, altas taxas de recorrência podendo gerar metástases. Reações inflamatórias crônicas são consideradas o gatilho para o início da fase maligna. Pacientes com tumores inoperáveis, doença residual, recidivante ou metastática tem poucas opções de tratamento. Isto mostra a importância de pesquisas para avaliar perfis da tumorogênese destas neoplasias e reconhecer alvos para a manipulação terapêutica. A expressão de receptores para estrógeno (RE) e progesterona (RP), no câncer de mama, são conhecidos e consolidados como preditores de bom prognóstico na medicina humana e veterinária. A expressão e o impacto desses receptores no prognóstico dos sarcomas de partes moles vem sendo estudada, principalmente em sarcomas uterinos em humanos, mas a expressividade dos mesmos, nos sarcomas cutâneos em gatos não é conhecida. O objetivo deste trabalho foi avaliar, por imuno-histoquímica, a expressão de RE e RP em 53 casos de sarcomas de aplicação em felinos, correlacionando-os com aspectos clínicos, histopatológicos e expressão de Ki67. Trata-se de estudo retrospectivo, com blocos de parafina. Características clínicas, histopatológicas e imuno-histoquímicas foram variáveis preditoras e a expressão de RE, RP e tamanho tumoral variáveis dependentes. Mais da metade dos casos, 38 (81%), estavam localizados no tronco. O grau histopatológico III foi observado em 56,6% dos casos. A expressão de RE foi observado na maioria dos casos (64%) tendo associação significativa com número de mitoses (P=0,046) e intensidade de pleomorfismo (P=0,019). Não houve associação significativa entre RP e as variáveis estudadas e, 62% dos casos foram negativos para esse receptor. Houve correlação positiva entre Ki67, pleomorfismo e número de mitoses. Tamanho tumoral se associou com presença de células gigantes (P=0,049). Desta forma, o estrógeno e tamanho tumoral, aparentemente, tem efeito na patogênese desses tumores. Estudos futuros poderão analisar e comparar a expressão de RE com características clínicas prognósticas como recidiva, metástases e sobrevida e explorar uma possível ação dos moduladores dos RE e inibidores de aromatase na patogênese dessa doença, como terapêutica alternativa de baixo custo e com poucos efeitos colaterais. Palavras-chave: Cirurgia veterinária. Estrógeno. Gatos. Imuno-histoquímica. Progesterona. Sarcomas. Vacinas.Feline injection site sarcoma (FISS) is a neoplasm of mesenchymal origin, with an aggressive character, with high recurrence and can lead to metastases. This appears after the application of vaccines or medications. Chronic inflammatory reactions are considered the trigger for the onset of the malignant phase of this disease. Patients with inoperable tumors, residual, recurrent or metastatic disease have few treatment options. This shows the importance of research to evaluate the tumorogenesis profiles of these neoplasms and to recognize targets for therapeutic manipulation. The expression of estrogen (ER) and progesterone receptors (RP), in breast cancer, are known and consolidated as predictors of good prognosis in human and veterinary medicine. The expression and impact of these receptors on the prognosis of soft tissue sarcomas has been studied, mainly in uterine sarcomas in humans, but their expressiveness, in cutaneous sarcomas in cats, needs further studies. The objective of this work was to evaluate, by immunohistochemistry, the expression of ER and PR in 53 cases of FISS and correlating them with clinical, histopathological aspects and Ki67 expression. This is a retrospective study with paraffin blocks. Clinical, histopathological and immunohistochemical characteristics were the predictive variables and the expression of ER, RP and tumor size were the dependent variables. The trunk was the most affected site, with 38 cases (81%). Histopathological grade III was observed in 56.6% of the cases. The expression of ER was observed in most cases (64%) with a significant association with the mitotic index (P=0.046) and pleomorphism (P=0.019). Differences between PR and the clinical, histopathological and other immunohistochemical variables studied were not significant and 62% of cases were negative for this receptor. The Ki-67 antigen was positively correlated with the number of mitoses and pleomorphism. Tumor size was associated with the presence of giant cells (P=0.049). Thus, estrogen and tumor size apparently have an effect on the pathogenesis of these tumors. Future studies will be able to analyze and compare the ER expression with prognostic clinical characteristics such as recurrence, metastasis and survival and explore a possible action of ER modulators and aromatase inhibitors in the pathogenesis of this disease. Keywords: Cats. Estrogen. Immunohistochemistry. Progesterone. Sarcomas. Vaccines. Veterinary surgery

Nek perimeter, adiposity and cardiometabolic risk in adults in Viçosa: population- based studies

As doenças cardiovasculares representam a maior causa de morbi-mortalidade nos países desenvolvidos e está em ascensão nos países em desenvolvimento. Novos marcadores, como as medidas antropométricas relacionadas aos fatores de risco cardiometabólico, especialmente à síndrome metabólica (SM), são importantes no contexto de saúde pública devido à necessidade de intervenções eficazes, de baixo custo, acessíveis à maior parte da população e de caráter preventivo. O perímetro do pescoço (PP) vem sendo estudado devido a sua associação com o acúmulo de gordura subcutânea no segmento superior do corpo e risco cardiometabólico. Estudo transversal, de base populacional, foi desenvolvido com o objetivo de associar o PP com fatores de risco cardiometabólico na população adulta e estabelecer pontos de corte para predição da SM e risco de desenvolvimento de doenças cardiovasculares pelo escore de risco de framinghan. Um total de 954 adultos, de ambos os sexos, com 20 a 59 anos, foram avaliados. A SM foi definida segundo o Critério Harmonizado (2009). O PP foi a variável preditora principal e SM e seus componentes foram utilizados como variáveis dependentes. As análises foram ponderadas por idade, escolaridade e sexo e a associação entre o PP e a carga da SM avaliada por regressão logística multinomial. A associação entre o PP e fatores de risco cardiometabólico foi avaliada com regressão linear múltipla. Calculado os pontos de corte dessa medida antropométrica que prediz SM de acordo com sexo através da curva ROC. O nível de significância adotado foi menor ou igual a 0,05. O PP é um preditor independente para a carga da SM, com maior associação nas mulheres e está associado com outros fatores de risco cardiometabólicos como, HDL colesterol, triglicerídeos, resistência à insulina e pressão arterial, com outras medidas antropométricas como, perímetro da cintura e índice de massa corporal e com medidas de composição corporal, sendo um preditor de obesidade. O ponto ótimo de corte, do PP, para predição da síndrome foi de 39,5cm para homens e 33,3cm para as mulheres. Indivíduos com PP abaixo do ponto de corte estabelecido possuem menor probabilidade de evento coronariano em 10 anos que aqueles com PP acima do ponto de corte de acordo com o escore de risco de Framinghan. O PP é uma medida antropométrica simples, de baixo custo e fácil obtenção na prática clínica e em estudos epidemiológicos. Por tratar-se de um marcador adicional de risco, recomenda-se o uso deste parâmetro antropométrico como ferramenta de triagem de indivíduos adultos assintomáticos.Cardiovascular diseases are the major morbidity and mortality cause in developed countries and are increasing in developing ones. New markers, such as anthropometric measurements, related to cardiometabolic risk factors and the metabolic syndrome (MS) are important in the public health context due to the need of effective interventions with low cost and affordable for most populations. The neck perimeter (NP) has been studied because of its association with the upper body subcutaneous fat and cardiometabolic risks. A population-based and cross-sectional study was developed aiming to associate the NP with cardiometabolic risk factors and to establish cut-off values for the predicting of MS. 954 adults of both genders, 20 to 59 years, were evaluated. The MS was defined according to the Harmonizing Criteria(2009). The NP was the main independent variable and the MS and its components as dependent variable. Age and gender were weighted and the association between NP with the burden of MS was evaluated by multinomial logistic regression. The association between NP and cardiometabolic risk factors was assessed with linear regressions. Receiver operating characteristic (ROC) curves were used for gender-specific cut-off values for the prediction of MetS. A P value < 0.05 was considered statistically significant. The NP is an independent predictor for the MS with highest association in women. The cut-off value of the NP for the prediction of the syndrome was 39.5cm for men and 33,3cm for women. Therefore, NC is a useful screening tool in clinical and research settings

Neck circumference, cardiometabolic risk, and Framingham risk score: Population-based study

<div><p>ABSTRACT Objective To investigate the association of the neck circumference with cardiometabolic risk factors and the Framingham risk score. Methods The study was a cross-sectional population-based one with 948 adults (522 women) aged 20–59 years. Sociodemographic, anthropometric, body composition, behavioral, biochemical, and hemodynamic factors were evaluated. The association between neck circumference, anthropometric variables, body composition and cardiometabolic risk factors was evaluated by multiple linear regression, adjusted for sociodemographic and behavioral factors. Results Are presented as β coefficients, standard errors, and 95% confidence intervals with a 0.05 significance level. The neck circumference was positively associated with triglycerides, insulin resistance index, uric acid, systolic and diastolic blood pressure, C-reactive protein, waist circumference, body mass index and total body fat estimated by dual energy X-ray absorptiometry. The neck circumference and high-density lipoprotein cholesterol were negatively associated, even after adjustment for sociodemographic and behavioral factors. Individuals with a neck circumference below the cut-off point to predicting cardiometabolic risks, 39.5cm for men and 33.3cm for women, had lower probability of having a coronary event in 10 years compared to those with a neck circumference above the cut-off point. Conclusion Neck circumference is an alternative measure to estimate body fat and as an additional marker to screen for cardiovascular risk diseases.</p></div

Phototherapy with PUVA: Versatility and efficacy in dermatoses

Não consta resum

Strychnos pseudoquina modulates the morphological reorganization of the scar tissue of second intention cutaneous wounds in rats.

Natural substances are used in folk medicines to treat injuries. Strychnos pseudoquina has scarring, antipyretic, and antimalarial actions. The present study aimed to analyze the effect of S. pseudoquina on cutaneous wound healing in rats. The S. pseudoquina extract was submitted to phytochemical prospection. The levels of flavonoids and total phenolic compounds in the extract were 50.7 mg/g and 2.59 mg/g, respectively. Thirty Wistar rats were individualized in cages with food and water ad libitum (registration no. 730/2014). After anesthesia, three circular wounds (12mm diameter) were made in the animals, which were randomly separated into five treatments: Sal, saline; VO, ointment vehicles (lanolin and Vaseline); SS, positive control (silver sulfadiazine 1%); LE 5, freeze-dried extract 5%; and LE 10, lyophilized extract 10%. The animals were treated with the ointment daily for 21 days. Every seven days, the area and the rate of wound contraction were evaluated. Tissue samples were removed for histopathological analysis of the number of mast cells, elastic and collagen fibers, and biochemical analyses, quantification of malondialdehyde (MDA), carbonylated proteins (PCN), superoxide dismutase (SOD), catalase (CAT), transforming growth factor β (TGF-β), Interleukin 10 (IL-10) and tumor necrosis factor (TNF). The number of mast cells, collagen and elastic fibers in the rat wounds were higher in the treatments with the plant. The extract also stimulated the activity of antioxidant enzymes, particularly SOD, presenting high levels, and maintained low levels of PCN. The TGF-β and IL-10 concentration was higher in the LE5 and LE10 treatment of the extract than in the Sal, OV and SS treatments on day 7. The ointment based on S. pseudoquina closed the wound faster and accelerated wound healing in animals

Representative photomicrographs obtained under polarizing microscopy demonstrate the distribution of collagen fibers in the scar tissue of rats treated with <i>Strychnos pseudoquina</i> ointment.

<p>Collagen fibers (type I) appear in shades of bright colors ranging from red to yellow, while thin reticular fibers (collagen type III) appear bright green. Tissue fragments were collected every 7 days during 21 days of treatment. Day 0 refers to the normal untreated tissue. Bar = 40 μm. Sirius red.</p