Altered Brain Structure in Infants with Turner Syndrome.

Turner syndrome (TS) is a genetic disorder affecting approximately 1:2000 live-born females. It results from partial or complete X monosomy and is associated with a range of clinical issues including a unique cognitive profile and increased risk for certain behavioral problems. Structural neuroimaging studies in adolescents, adults, and older children with TS have revealed altered neuroanatomy but are unable to identify when in development differences arise. In addition, older children and adults have often been exposed to years of growth hormone and/or exogenous estrogen therapy with potential implications for neurodevelopment. The study presented here is the first to test whether brain structure is altered in infants with TS. Twenty-six infants with TS received high-resolution structural MRI scans of the brain at 1 year of age and were compared to 47 typically developing female and 39 typically developing male infants. Results indicate that the typical neuroanatomical profile seen in older individuals with TS, characterized by decreased gray matter volumes in premotor, somatosensory, and parietal-occipital cortex, is already present at 1 year of age, suggesting a stable phenotype with origins in the prenatal or early postnatal period.

Análise da eficácia do crosslinking transepitelial em pacientes portadores de ceratocone / Analysis of the effectiveness of transepithelial crosslinking in patients with keratoconus

Resumo Objetivo: Avaliar os resultados clínicos do Crosslinking Transepitelial (CXL) analisando sua eficácia em pacientes portadores de ceratocone progressivo. Métodos: Estudo transversal retrospectivo com 49 olhos e 37 pacientes com idades entre 10 e 50 anos, submetidos à técnica de CXL em 2017 no Instituto Panamericano da Visão, em Goiânia, Goiás, Brasil. Foi utilizado o sistema KXL Avedro programado no modo pulsado com intervalo (1/1 segundo), usando 45 mW/cm² com 7,2 J e solução de riboflavina a 0,25% da Avedro com córneas irradiadas por 8 minutos. Foram coletados os dados: sexo, idade, acuidade visual sem correção (AVSC), acuidade visual com correção (AVCC), astigmatismo, paquimetria no ponto mais fino e astigmatismo ceratométrico no pré-operatório e pós-operatório com 1, 6 e 12 meses. Foram utilizados os testes Kolmogorov-Smirnov, Qui-quadrado de Pearson, Friedman, Dunnett à posteriori e a correlação de Spearman. Resultados: Vinte e três pacientes (62,2%) eram do sexo feminino e 14 (37,8%) do sexo masculino. A média de idade foi de 27,89 (±10,89) anos. A AVSC e AVCC melhoraram significativamente no pré-operatório em relação a 1 mês (p=0,01) e (p<0,001), 6 meses (p<0,001 ambas) e 12 meses (p<0.001 ambas). O astigmatismo reduziu significativamente no pré-operatório em relação a 6 meses (p=0,02) e 12 meses (p=0,02). A paquimetria no ponto mais fino manteve-se constante no período (p=0,95). A diferença entre k2 e k1 (astigmatismo ceratométrico) mostrou redução significativa no pré-operatório em relação a 1 mês (p=0,01). Conclusão: A técnica de CXL foi segura e eficaz no tratamento e estagnação da doença em pacientes com ceratocone progressivo.

Abstract Objective: To evaluate the clinical results of Transepithelial Crosslinking (CXL) by analyzing its efficacy in patients with progressive keratoconus. Methods: Retrospective cross-sectional study with 49 eyes and 37 patients aged 10 to 50 years submitted to the CXL technique in 2017 at the Instituto Panamericano da Visão, in Goiânia, Goiás, Brazil. The Avedro KXL system was programmed in pulsed mode with interval (1/1 second), using 45 mW/cm² with 7.2 J and 0.25% riboflavin solution of Avedro with irradiated corneas for 8 minutes. Data were collected: sex, age, uncorrected distance visual acuity (UDVA), corrected distance visual acuity (CDVA), astigmatism, pachymetry at the thinnest point and keratometric astigmatism in the preoperative and postoperative periods at 1, 6 and 12 months. The Kolmogorov-Smirnov, Pearson's Chi-square, Friedman, Dunnett, and the Spearman correlation were used. Results: Twenty-three patients (62.2%) were female and 14 (37.8%) male. The mean age was 27.89 ± 10.89 years. The UDVA and CDVA significantly improved in the preoperative period in relation to 1 month (p = 0.01) and (p <0.001), 6 months (p <0.001 both) and 12 months (p <0.001 both). Astigmatism significantly reduced preoperatively in relation to 6 months (p = 0.02) and 12 months (p = 0.02). The pachymetry at the thinnest point remained constant in the period (p = 0.95). The difference between k2 and k1 (keratometric astigmatism) showed a significant reduction in the preoperative period in relation to 1 month (p = 0.01). Conclusion: The CXL technique was safe and effective in the treatment and stagnation of the disease in patients with progressive keratoconus.