Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States.

PURPOSE: Previous studies have suggested that Optineurin (OPTN) sequence variants contribute to low-tension glaucoma (LTG) in ethnically homogeneous populations. The purpose of this study is to evaluate the prevalence of OPTN sequence variants in an ethnically diverse population of LTG patients from the United States, and to describe the phenotype of patients with OPTN sequence variants preferentially found in LTG patients. METHODS: Genomic DNA purified from 67 LTG patients was screened for DNA sequence variants located in the exons and flanking introns of the OPTN gene using high-performance liquid chromatography analysis and direct genomic DNA sequencing. Eighty-six primary open-angle glaucoma probands and 100 control patients were also analyzed. RESULTS: Nine OPTN DNA sequence variants were identified in this patient population including the 2 previously identified heterozygous nonsynonymous single-nucleotide polymorphisms in exons 4 and 5. Four LTG patients with severe disease and positive family history of glaucoma, were found to have DNA sequence changes not found in primary open-angle glaucoma probands or control individuals including the previously reported E50K variation. CONCLUSIONS: The results of this study support the rare association of OPTN sequence variants with familial forms of LTG. The E50K mutation seems to be associated with a severe form of LTG, and although rare, the identification of this sequence variant in patients at risk may help direct appropriate therapy.

The impact of anesthetic techniques on breast cancer recurrence: a systematic review of clinical evidence

Introduction: Surgery is the most effective treatment for breast cancer; however, several factors can impair the immune system during the perioperative period, including the anesthetic technique. Since metastasis is the leading cause of death, one of the treatment pillars is to prevent cancer progression. This systematic review will focus on the prospective clinical evidence available on anesthesia's role in favoring breast cancer recurrence. Methods: The Cochrane Library, Medline, Embase, LILACs, and Web of Science were electronically searched from inception through December 2020 for randomized controlled trials assessing the association of postoperative recurrence and survival with the use of regional anesthesia, opioids, anesthetic adjuncts, and general anesthesia during surgical resection of breast cancer. In total, 711 articles were retrieved. After title and abstract screening and full-text reviews, five randomized controlled trials were selected. Results: Two studies compared inhalation anesthesia with total intravenous anesthesia, while three compared general anesthesia with regional anesthesia and analgesia. There was no significant association between the anesthetic technique and local recurrence, metastasis, or survival. Conclusion: This systematic review did not find an association between the type of anesthesia performed and a higher breast cancer recurrence rate. Up to this time, there is no clinical evidence to support a specific anesthetic technique for malignant breast tumor resection surgeries.

Presença de catarata em pacientes abaixo de 18 anos com diabetes mellitus tipo I no nordeste do Brasil / Presence of cataract in patients under 18 years with type I diabetes mellitus in the Brazilian northeast

Foram analisados 42 pacientes (21 do sexo masculino e 21 do sexo feminino), com idades que variavam entre 5 e 18 anos, os quais foram submetidos a exame oftalmológico sob cicloplegia (acuidade visual, biomicroscopia, pressão intraocular e mapeamento da retina). Foram também protocolados a procedência e a existência de doenças associadas nesses pacientes. Dos 42 pacientes, apenas cinco apresentaram catarata (11,9 por cento), sendo 04 do sexo feminino e 01 do sexo masculino; com idades que variaram dos 06 aos 17 anos. De todo o grupo em estudo, 09 pacientes (21,4 por cento) apresentaram doenças associadas como: Tiroidite de Hashimoto com hipotiroidismo (03 pacientes), infecções do trato urinário de repetição (01 paciente), esteatose hepática de grau 1 (01 paciente), hérnia inguinal (01 paciente), síndrome genética não identificada (01 paciente), síndrome caracterizada por diabetes mellitus insulino-dependente, hipoacusia e catarata congênita (01 paciente) e nefropatia diabética (01 paciente). Desses pacientes com doenças associadas, apenas 02 do sexo feminino demonstraram catarata à biomicroscopia. Quanto à procedência desses pacientes com catarata, 40 por cento eram do Recife e Região Metropolitana e 60 por cento, do interior do estado. Através deste estudo, enfatizamos a importância do controle glicêmico e acompanhamento oftalmológico periódico dos pacientes pediátricos portadores de diabetes mellitus tipo I