RESUMO
OBJECTIVE: The aim of this study was to describe a family with cryopyrin-associated periodic syndrome (CAPS) in which the disease was unveiled after the ophthalmologic evaluation. METHODS: Family and personal histories from each of the patients were recorded. Each underwent a full ophthalmological examination along with the physical examination. The mutational analysis of the NLRP3 gene was performed by means of direct sequencing. RESULTS: The proband was admitted during an episode of unilateral anterior uveitis. She had a history of recurrent red eye and had been suffering episodes of skin rash and arthralgia induced by cold since childhood. At examination, she showed a reticulated corneal mid-stroma. Her mother and her younger sister also suffered from relapsing episodes of skin rash and fever triggered by cold as well as flares of red eye. They had developed premature hearing loss. In both cases, opacities in the corneal mid-stroma were evidenced with a slit lamp. The genetic analysis detected the heterozygous germline p.R260W mutation in the NLRP3 gene in the three women, confirming the diagnosis of CAPS. Treatment with anakinra resulted in complete remission of flares. CONCLUSION: In this family, a structural NLRP3 mutation was associated with classic MuckleWells features of different degrees of severity. Interstitial keratitis with corneal opacification, usually ascribed to neonatal-onset multisystem inflammatory disease, was found. We underscore that ocular involvement in MuckleWells syndrome should be carefully assessed, since it can lead to visual impairment.
Assuntos
Proteínas de Transporte/genética , Síndromes Periódicas Associadas à Criopirina/genética , Mutação de Sentido Incorreto , Transtornos da Visão/genética , Antirreumáticos/uso terapêutico , Síndromes Periódicas Associadas à Criopirina/tratamento farmacológico , Feminino , Humanos , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Ceratite/genética , Pessoa de Meia-Idade , Proteína 3 que Contém Domínio de Pirina da Família NLR , Linhagem , Resultado do Tratamento , Uveíte Anterior/genética , Adulto JovemRESUMO
AIM: Hepatocellular carcinoma (HCC) is in the 10 leading cancer types, being difficult to detect as most of patients who develop this tumor have no symptoms other than those related to their long-standing liver disease. The liver is constantly exposed to bacterial products, viral infection, alcohol or other products, which may be the cause of chronic liver damage, and thus an increasing risk for HCC. Toll-like receptors (TLR) have gained an extraordinary interest in cancer research due to their role in several biological processes such as innate immune responses, the induction of adaptive immune responses, regulation of inflammation, would healing and carcinogenesis. Therefore, the aim of this study was to investigate the expression and clinical relevance of TLR3, 4 and 9 in HCC. METHODS: The expression levels of TLR3, TLR4 and TLR9 were analyzed in tumors from 30 patients with HCC. The analysis was performed by immunohistochemistry. Results were correlated with various clinicopathological findings and with overall survival. RESULTS: TLR3 was significantly high in large tumors (>4 cm in diameter) compared with small tumors (P < 0.05). Our results demonstrated that patients whose tumors showed both TLR4 and TLR9 positive immunostaining had poor prognosis. In addition, TLR9 expression by fibroblast-like cells was significantly associated with a shortened overall survival (P = 0.015). CONCLUSION: The results demonstrated an association between TLR3, TLR4 and TLR9 expression and tumor aggressiveness and poor prognosis in HCC.
RESUMO
BACKGROUND: Obesity increases the severity of coronavirus disease 2019 illness in adults. The role of obesity in short-term complications and post-acute sequelae in children is not well defined. OBJECTIVE: To evaluate the relationship between obesity and short-term complications and post-acute sequelae of SARS-CoV-2 infection in hospitalized paediatric patients. METHODS: An observational study was conducted in three tertiary hospitals, including paediatric hospitalized patients with a confirmatory SARS-CoV-2 RT-PCR from March 2020 to December 2021. Obesity was defined according to WHO 2006 (0-2 years) and CDC 2000 (2-20 years) growth references. Short-term outcomes were intensive care unit admission, ventilatory support, superinfections, acute kidney injury, and mortality. Neurological, respiratory, and cardiological symptoms and/or delayed or long-term complications beyond 4 weeks from the onset of symptoms were considered as post-acute sequalae. Adjusted linear, logistic regression and generalized estimating equations models were performed. RESULTS: A total of 216 individuals were included, and 67 (31.02%) of them had obesity. Obesity was associated with intensive care unit admission (aOR = 5.63, CI95% 2.90-10.94), oxygen requirement (aOR = 2.77, CI95% 1.36-5.63), non-invasive ventilatory support (aOR = 6.81, CI95% 2.11-22.04), overall superinfections (aOR = 3.02 CI95% 1.45-6.31), and suspected bacterial pneumonia (aOR = 3.00 CI95% 1.44-6.23). For post-acute sequalae, obesity was associated with dyspnea (aOR = 9.91 CI95% 1.92-51.10) and muscle weakness (aOR = 20.04 CI95% 2.50-160.65). CONCLUSIONS: In paediatric hospitalized patients with COVID-19, severe short-term outcomes and post-acute sequelae are associated with obesity. Recognizing obesity as a key comorbidity is essential to develop targeted strategies for prevention of COVID-19 complications in children.
Assuntos
COVID-19 , Superinfecção , Adulto , Humanos , Criança , COVID-19/complicações , COVID-19/epidemiologia , SARS-CoV-2 , Síndrome de COVID-19 Pós-Aguda , Obesidade/epidemiologia , Estudos de Coortes , Estudos RetrospectivosRESUMO
PURPOSE: Previous studies have shown that melanoma cells produce excessive levels of cytokines, which have various biological roles during melanoma development. The aim of this study was to expand the profile of serum cytokines, chemokines, growth factors, and angiogenic factors that are associated with melanoma, to find more cytokines with abnormal concentrations in melanoma patients, to identify whether the level of cytokines correlated with prognostic variants, such as Breslow thickness and BRAF mutation, and, finally, to find out the cytokines that play important roles during melanoma development. MATERIALS AND METHODS: Multiplex immunobead assay technology and 45-plex immunoassays ProcartaPlex™ kits were used to simultaneously compare the levels of cytokines, growth factors, angiogenic factors, and chemokines between the serum of healthy patients (n = 30) and those with melanoma (n = 72). Data were analyzed according to the clinical characteristics of the designated patient subgroups. RESULTS: Compared to the control group, melanoma patients had higher levels of VEGF-A, PDGF-BB, IL-1RA, PIGF-1, IFN-γ, TNF-α, MIP-1α, and SCF, but lower levels of BDNF, SDF-1α, MCP-1, Eotaxin, EGF, and IL-7. Furthermore, the levels of TNF-α (P=0.320, r = 0.019), IFN-γ (P=0.311, r = 0.023), VEGF-A (P=0.014, r = 0.337), and BDNF (0.004, r = -0.391) showed a significant correlation with Breslow thickness. IL-7 was of lower levels in patients harboring BRAF mutants. Melanoma patients with high levels of MIP-1α and MCP-1 showed the poorest overall survival. CONCLUSIONS: We found that the levels of VEGF-A and PDGF-BB in the serum of both primary and metastatic melanoma patients are elevated. TNF-α, IFN-γ, and VEGF-A presented a positive correlation with Breslow thickness, whereas BDNF showed a negative association. MIP-1α and MCP-1 correlated negatively with survival. In addition, lower levels of IL-7 were found in patients harboring BRAF mutants. These findings indicate that these cytokines may play critical roles in the progression of melanoma.
RESUMO
Actualmente la aceleración de la economía, la sociedad y la tecnología, ha generado grandes problemáticas, lo que nos hace adentrar en discusiones bioéticas. Considerando la relación que hemos tenido a lo largo del tiempo con el planeta, su ecosistema y las consecuencias que hoy en día podemos apreciar, me surge la idea de un "enfoque ecocéntrico" para esta obra, siendo este el equilibrio entre especies y ecosistema, donde cada especie está ligada al bienestar de las demás, tanto individuos humanos como no humanos. En la pintura, creada con la técnica de óleo sobre lienzo, se puede observar cada individuo, en una relación de igualdad, cada detalle ha sido pensado de manera única, los colores y contrastes le dan un efecto surrealista que con este texto el lector podrá entender.
Assuntos
Arte , Ciência , Bioética , Ecossistema , Desenvolvimento HumanoRESUMO
El propósito de este estudio es evaluar los efectos terapéuticos de placas de avance mandibular con espacio intericisal en pacientes con diagnóstico de Apnea Obstructiva del Sueño (A.O.S). Para llevar a cabo esta investigación se seleccionaron 20 pacientes (15 hombres, 5 mujeres) a los cuales se les realizó un estudio polisomnográfico previo a la terapia, confirmando así el diagnótico de Apnea Obstructiva del Sueño. Posteriormente se colocaron las placas de avance mandibular con espacio interincisal y se requirió de un periódo de un mes para habituar al paciente y luego evaluar su efectividad mediante la realización de otro estudio polisomnográfico postratamiento. Se valoró el índice de Apnea e hipopnea, saturación de oxígeno, la somnolencia, el ronquido y la cefalea. Los resultados mostraron que se presentó mejoría en el ronquido y diferencias estadísticamente significativas en cuanto al índice de somnolencia, apnea e hipopnea; mientras que no se evidenciaron cambios estadísticamente significativos en la saturación del oxigeno. Se concluyó que los pacientes con (A.O.S) presentan óptimas respuestas ante el tratamiento con placas de avance mandibular en sus signos y síntomas.