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1.
Rev. bras. oftalmol ; 82: e0059, 2023. tab, graf
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1521778

RESUMO

RESUMO Um em cada quatro pacientes acometidos por trauma maxilofacial terão concomitantemente fraturas da órbita e lesão ocular. Por isso, uma avaliação oftalmológica minuciosa é recomendada para todos os pacientes que sofrem um trauma de face. Alguns exames oftalmológicos logo após o trauma podem ser decisivos para a preservação da acuidade visual. Sujeitos com achados de exame físico de acuidade visual deficitárias, defeito pupilar aferente e imagens radiográficas com alta profundidade da fratura da órbita estão em maior risco de perda de visão e justificam preocupação específica para avaliação de lesão ocular. O objetivo deste estudo foi reunir as manifestações clínicas oftalmológicas prevalentes em pacientes acometidos por fraturas orbitárias, com o intuito de adquirir melhor perspectiva e entendimento acerca das consequências que a patologia traz ao indivíduo, no que tange à oftalmologia e aos tratamentos mais adequados. Trata-se de estudo de revisão integrativa, utilizando as bases de dados Pubmed®/Medline®, SciELO, Biblioteca Virtual em Saúde e Lilacs, com um vocabulário controlado segundo a estratégia de busca em cada uma das bases de dados bibliográficas, por meio dos termos "ophthalmologic complications", "prevalence", "orbital fracture", em estudos publicados de 2013 a 2023. A qualidade dos artigos foi avaliada usando o Study Quality Assessment Tool from the Department of Health and Human Services. Foram encontradas 46 referências, sendo 20 no Pubmed®/Medline®, 17 na SciELO, 9 na Biblioteca Virtual em Saúde e nenhuma na Lilacs. Após excluir referências duplicadas, foram selecionadas 44 referências para avaliação de elegibilidade. Após leitura dos títulos e resumos (n=44), 36 estudos foram excluídos pelas seguintes razões: artigos que não respondiam a nossa pergunta científica (n=11) e publicação superior a 10 anos (n=25). Identificaram-se, nos oito artigos selecionados, o objetivo do estudo, a população estudada o nível de evidência. Os oito estudos tiveram como objetivo analisar traumas orbitais com alterações funcionais significativas oculares e visuais pelo prejuízo ao tecido ósseo, nervoso, vascular e até parenquimatoso cerebral na região do assoalho e paredes de cavidades orbital. Dentre as manifestações clínicas oftalmológicas mais importantes, listam-se manifestação de enoftalmia, diplopia, hifema traumático, hemorragia retiniana, amaurose, quemose, neuropatia óptica traumática e hematoma retrobulbar. Considerando os oito estudos analisados, verificou-se a presença unânime de manifestações clínicas oftalmológicas na totalidade dos pacientes acometidos, sendo predominantes a baixa acuidade visual e o hifema. No que tange aos achados de menor prevalência, ao equipará-los às manifestações clínicas oftalmológicas mais encontradas, verifica-se que possuem como fator principal o estado transitório, concluindo-se que, mesmo com toda a gravidade do quadro de fratura orbitária, sua tendência é não deixar sequelas permanentes em grande partes dos casos, ainda que não seja nítida a relação estabelecida pela ausência de sequelas permanentes, especulando-se que essa ausência se deve à identificação do quadro e à intervenção adequada em tempo hábil.


ABSTRACT One in four patients affected by maxillofacial trauma will have concomitant orbital fractures and ocular injuries; therefore, an ophthalmological evaluation is recommended for all patients who have been affected by facial trauma. Some ophthalmological exams soon after the trauma can be decisive for the preservation of visual acuity. Patients with physical examination findings of poor visual acuity, afferent pupillary defect, radiographic images with high depth of orbital fracture, are at greater risk of vision loss and specific concern for evaluation of ocular injury. The objective of this study was to gather the prevalent ophthalmologic clinical manifestations in patients affected by orbital fractures, to achieve a better perspective and understanding about the consequences that the pathology brings to the individual regarding ophthalmology and the most appropriate treatments. This is an integrative review study, using the Pubmed®/Medline®, SciELO, Virtual Health Library and Lilacs databases, with a controlled vocabulary according to the search strategy in each of the bibliographic databases, using the terms "ophthalmologic complications", "prevalence", "orbital fracture", in studies published from 2013 to 2023. The quality of the articles was assessed using the Study Quality Assessment Tool from the Department of Health and Human Services. A total of 46 references were found, 20 in Pubmed®/Medline®, 17 in SciELO, 9 in the Virtual Health Library and none in Lilacs. After excluding duplicate references, 44 references were selected for eligibility assessment. After reading the titles and abstracts (n=44), 36 studies were excluded for the following reasons: articles that did not answer our scientific question (n=11) and publication over 10 years (n=25). In the eight selected articles, the objective of the study, the population studied, and the level of evidence were identified. The eight studies aimed to analyze orbital trauma with significant ocular and visual functional changes due to damage to bone, nerve, vascular, and even brain parenchymal tissue in the region of the floor and walls of orbital cavities. Among the most important ophthalmologic clinical manifestations, there are enophthalmos, diplopia, traumatic hyphema, retinal hemorrhage, amaurosis, chemosis, traumatic optic neuropathy and retrobulbar hematoma. Considering the eight studies analyzed, there was a unanimous presence of ophthalmological clinical manifestations in all affected patients, with low visual acuity and hyphema being predominant. Regarding the findings of lower prevalence, when equating them to the most common ophthalmologic clinical manifestations, they have as main factor the transient state, which can be concluded that, even with all the severity of the orbital fracture, its tendency is not to leave permanent sequelae in most cases, although the relationship established by the absence of permanent sequelae is not clear, speculating that this absence is due to the identification of the condition and the appropriate intervention in a timely manner.

2.
J Dermatol ; 48(5): 657-660, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33684229

RESUMO

Mastocytosis is a heterogeneous group of diseases characterized by abnormal proliferation of neoplastic mast cells in the skin and/or other extracutaneous tissues. Most patients with skin involvement can be subclassified into one of the three subtypes of cutaneous mastocytosis currently recognized by the World Health Organization (i.e., mastocytoma, maculopapular cutaneous mastocytosis and diffuse cutaneous mastocytosis); however, some patients may occasionally present with atypical skin lesions that cannot be ascribed to any of these disease subtypes. Here, we report three patients diagnosed with mastocytosis and an unusual cutaneous involvement mimicking Kaposi's sarcoma. Skin biopsies showed neoplastic mast cell infiltrates together with features commonly seen in acroangiodermatitis, and immunohistochemistry for human herpesvirus 8 was negative. One patient fulfilled the criteria for aggressive systemic mastocytosis, showed no response to cytoreductive therapy, and died because of disease progression. The remaining two patients had indolent and smoldering systemic mastocytosis, respectively, but they showed several features associated with an unfavorable prognosis such as extensive involvement of the hematopoiesis by the KIT D816V mutation, increased serum ß2-microglobulin, and decreased serum lactate dehydrogenase. The presence of pseudo-Kaposi's sarcoma skin lesions is an uncommon finding in mastocytosis which may alert physicians to the possible existence of underlying features indicative of a poor prognosis.


Assuntos
Mastocitose Cutânea , Mastocitose Sistêmica , Mastocitose , Sarcoma de Kaposi , Humanos , Mastócitos , Mastocitose Cutânea/complicações , Mastocitose Cutânea/diagnóstico , Mastocitose Sistêmica/complicações , Mastocitose Sistêmica/diagnóstico , Proteínas Proto-Oncogênicas c-kit/genética
3.
J Mol Diagn ; 22(10): 1217-1224, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32688056

RESUMO

Molecular monitoring of BCR-ABL1 transcripts is a critical prognostic indicator of treatment response in chronic myeloid leukemia (CML). Quantification of BCR-ABL1 transcripts using ABL1 or GUSB as control genes on the early molecular response (MR) to frontline nilotinib was studied using data from 60 patients with chronic-phase CML from the Evaluating Nilotinib Efficacy and Safety in Clinical Trials as First-Line Treatment (ENEST1st) substudy. Effects of BCR-ABL1/ABL1 and BCR-ABL1/GUSB ratios at early time points as independent variables on subsequent MR were determined by logistic regression analyses and predictive cut-off values determined by receiver operating curve analyses. From day 45, concordance was found for both control genes' early transcript kinetics and ability to predict subsequent deep MR at 18 months. From baseline to 3 months, transcripts descended linearly with both control genes. Use of ABL1 allowed for an earlier prediction (2 months) of subsequent MR than with GUSB (3 months), with cut-off values of 1.5% and 0.19%, respectively. The dynamic determination of BCR-ABL1 transcripts using either internal control gene is valid and predictive of subsequent MR. The use of GUSB to predict an earlier and more accurate response than ABL1 is not supported in the results. Accurate early indicators of MR are essential to identify patients likely to have inferior outcomes who may benefit from treatment with an alternative tyrosine kinase inhibitor.


Assuntos
Proteínas de Fusão bcr-abl/genética , Glucuronidase/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Proteínas Proto-Oncogênicas c-abl/genética , Pirimidinas/uso terapêutico , Adulto , Regulação Neoplásica da Expressão Gênica/efeitos dos fármacos , Humanos , Cinética , Leucemia Mielogênica Crônica BCR-ABL Positiva/patologia , Pirimidinas/farmacologia , RNA Mensageiro/genética , RNA Mensageiro/metabolismo
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