Role of apparent diffusion map in the evaluation of retinoblastoma.

PURPOSE: This study aimed to analyze the association between magnetic resonance imaging apparent diffusion coefficient map value and histopathological differentiation in patients who underwent eye enucleation due to retinoblastomas. METHODS: An observational chart review study of patients with retinoblastoma that had histopathology of the lesion and orbit magnetic resonance imaging with apparent diffusion coefficient analysis at Hospital de Clínicas de Porto Alegre between November 2013 and November 2016 was performed. The histopathology was reviewed after enucleation. To analyze the difference in apparent diffusion coefficient values between the two major histopathological prognostic groups, Student's t-test was used for the two groups. All statistical analyses were performed using SPSS version 19.0 for Microsoft Windows (SPSS, Inc., Chicago, IL, USA). Our institutional review board approved this retrospective study without obtaining informed consent. RESULTS: Thirteen children were evaluated, and only eight underwent eye enucleation and were included in the analysis. The others were treated with photocoagulation, embolization, radiotherapy, and chemotherapy and were excluded due to the lack of histopathological results. When compared with histopathology, magnetic resonance imaging demonstrated 100% accuracy in retinoblastoma diagnosis. Optic nerve invasion detection on magnetic resonance imaging showed a 66.6% sensitivity and 80.0% specificity. Positive and negative predictive values were 66.6% and 80.0%, respectively, with an accuracy of 75%. In addition, the mean apparent diffusion coefficient of the eight eyes was 0.615 × 103 mm2/s. The mean apparent diffusion coefficient value of poorly or undifferentiated retinoblastoma and differentiated tumors were 0.520 × 103 mm2/s and 0.774 × 103 mm2/s, respectively. CONCLUSION: This study revealed that magnetic resonance imaging is useful in the diagnosis of retinoblastoma and detection of optic nerve infiltration, with a sensitivity of 66.6% and specificity of 80%. Our results also showed lower apparent diffusion coefficient values in poorly differentiated retinoblastomas with a mean of 0.520 × 103 mm2/s, whereas in well and moderately differentiated, the mean was 0.774 × 103 mm2/s.

Role of apparent diffusion map in the evaluation of retinoblastoma

ABSTRACT Purpose: This study aimed to analyze the association between magnetic resonance imaging apparent diffusion coefficient map value and histopathological differentiation in patients who underwent eye enucleation due to retinoblastomas. Methods: An observational chart review study of patients with retinoblastoma that had histopathology of the lesion and orbit magnetic resonance imaging with apparent diffusion coefficient analysis at Hospital de Clínicas de Porto Alegre between November 2013 and November 2016 was performed. The histopathology was reviewed after enucleation. To analyze the difference in apparent diffusion coefficient values between the two major histopathological prognostic groups, Student's t-test was used for the two groups. All statistical analyses were performed using SPSS version 19.0 for Microsoft Windows (SPSS, Inc., Chicago, IL, USA). Our institutional review board approved this retrospective study without obtaining informed consent. Results: Thirteen children were evaluated, and only eight underwent eye enucleation and were included in the analysis. The others were treated with photocoagulation, embolization, radiotherapy, and chemotherapy and were excluded due to the lack of histopathological results. When compared with histopathology, magnetic resonance imaging demonstrated 100% accuracy in retinoblastoma diagnosis. Optic nerve invasion detection on magnetic resonance imaging showed a 66.6% sensitivity and 80.0% specificity. Positive and negative predictive values were 66.6% and 80.0%, respectively, with an accuracy of 75%. In addition, the mean apparent diffusion coefficient of the eight eyes was 0.615 × 103 mm2/s. The mean apparent diffusion coefficient value of poorly or undifferentiated retinoblastoma and differentiated tumors were 0.520 × 103 mm2/s and 0.774 × 103 mm2/s, respectively. Conclusion: This study revealed that magnetic resonance imaging is useful in the diagnosis of retinoblastoma and detection of optic nerve infiltration, with a sensitivity of 66.6% and specificity of 80%. Our results also showed lower apparent diffusion coefficient values in poorly differentiated retinoblastomas with a mean of 0.520 × 103 mm2/s, whereas in well and moderately differentiated, the mean was 0.774 × 103 mm2/s.

Double peeling and endolaser ablation for retinal detachment in von Hippel-Lindau disease.

Purpose: To describe a successful surgical approach to macula-off retinal detachment in von Hippel-Lindau disease. Observations: A 28-year-old male with a history of von Hippel-Lindau disease presented to us with significant worsening of vision in his single functional eye after undergoing a cryotherapy and laser session for multiple retinal capillary hemangioblastomas. Given a tractional and exudative retinal detachment involving macula, we performed a vitrectomy, epiretinal membrane peeling, internal limiting membrane peeling, endophotocoagulation of all hemangioblastomas, and fluid-air exchange. Over 30 days, there was total resolution of retinal detachment and improvement of his vision. At 13-month follow-up, the patient exhibited anatomical and functional stability. Conclusions and Importance: Double peeling and endolaser ablation may be an alternative treatment approach for patients with tractional and exudative retinal detachment in von-Hippel-Lindau disease.

Glaucoma, but not cataracts, predicts lower verbal fluency performance: 3.8-year follow-up from the ELSA-Brasil study.

Glaucoma, cataracts, and cognitive decline are most common in older ages. Although cross-sectional studies showed that these disorders are associated, follow-up studies are lacking. To investigate this issue, baseline and follow-up data from the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) were employed. We evaluated participants ≥ 55 years-old at follow-up without diagnosis of dementia, stroke, and other eye conditions except for glaucoma and cataracts. Cognition was evaluated using delayed word recall, verbal fluency, and trail making (version B) tests. Regression models were employed to investigate associations between glaucoma and cognition, adjusted by several confounders. Out of 3,867 participants, 379 and 118 presented cataracts and glaucoma, respectively. Only glaucoma was apredictor of lower verbal fluency (B = -0.23, 95% CI -035 to -012, p< 0.001). Other associations were not significant (ps>0.57). Our results suggest that glaucoma may be related to declining cognition.

Validity and reproducibility of retinal arteriole and venule diameter measurements: ELSA-Brasil study. A cross-sectional study.

BACKGROUND: Investigation of alterations to retinal microvasculature may contribute towards understanding the role of such changes in the pathophysiology of several chronic non-communicable diseases. The objective here was to evaluate the validity and reproducibility of retinal arteriole and venule diameter measurements made by Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) graders. DESIGN AND SETTING: Cross-sectional study at six teaching and research institutions. METHODS: To evaluate validity, each of 25 retinal images from the University of Wisconsin (gold standard) was measured by five ELSA-Brasil graders. To evaluate reproducibility, 105 images across the spectrum of vessel diameters were selected from 12,257 retinal images that had been obtained between 2010 and 2012, and each image was reexamined by the same grader and by an independent grader. All measurements were made using the Interactive Vessel Analysis (IVAN) software. Bland-Altman plots, paired t tests and intraclass correlation coefficients (ICCs) were analyzed. RESULTS: Mean differences between ELSA-Brasil and gold-standard readings were 0.16 µm (95% CI -0.17-0.50; P = 0.31) for central retinal artery equivalent (CRAE), -0.21 µm (95% CI -0.56-0.14; P = 0.22) for central retinal vein equivalent (CRVE) and 0.0005 (95% CI -0.008-0.009; P = 0.55) for arteriole/venule ratio (AVR). Intragrader ICCs were 0.77 (95% CI 0.67-0.86) for CRAE, 0.90 (95% CI 0.780.96) for CRVE and 0.70 (0.55-0.83) for AVR. Intergrader ICCs were 0.75 (95% CI 0.64-0.85) for CRAE, 0.90 (95% CI 0.79-0.96) for CRVE and 0.68 (95% CI 0.55-0.82) for AVR. CONCLUSIONS: Retinal microvascular diameter measurements are valid and present moderate to high intra and intergrader reproducibility in ELSA-Brasil.

Validity and reproducibility of retinal arteriole and venule diameter measurements: ELSA-Brasil study. A cross-sectional study

ABSTRACT BACKGROUND: Investigation of alterations to retinal microvasculature may contribute towards understanding the role of such changes in the pathophysiology of several chronic non-communicable diseases. The objective here was to evaluate the validity and reproducibility of retinal arteriole and venule diameter measurements made by Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) graders. DESIGN AND SETTING: Cross-sectional study at six teaching and research institutions. METHODS: To evaluate validity, each of 25 retinal images from the University of Wisconsin (gold standard) was measured by five ELSA-Brasil graders. To evaluate reproducibility, 105 images across the spectrum of vessel diameters were selected from 12,257 retinal images that had been obtained between 2010 and 2012, and each image was reexamined by the same grader and by an independent grader. All measurements were made using the Interactive Vessel Analysis (IVAN) software. Bland-Altman plots, paired t tests and intraclass correlation coefficients (ICCs) were analyzed. RESULTS: Mean differences between ELSA-Brasil and gold-standard readings were 0.16 µm (95% CI -0.17-0.50; P = 0.31) for central retinal artery equivalent (CRAE), -0.21 µm (95% CI -0.56-0.14; P = 0.22) for central retinal vein equivalent (CRVE) and 0.0005 (95% CI -0.008-0.009; P = 0.55) for arteriole/venule ratio (AVR). Intragrader ICCs were 0.77 (95% CI 0.67-0.86) for CRAE, 0.90 (95% CI 0.780.96) for CRVE and 0.70 (0.55-0.83) for AVR. Intergrader ICCs were 0.75 (95% CI 0.64-0.85) for CRAE, 0.90 (95% CI 0.79-0.96) for CRVE and 0.68 (95% CI 0.55-0.82) for AVR. CONCLUSIONS: Retinal microvascular diameter measurements are valid and present moderate to high intra and intergrader reproducibility in ELSA-Brasil.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil. We present a review on the neuroimaging, ophthalmologic and neurophysiologic clues for ARSACS diagnosis. The early-onset, slowly progressive, spastic-ataxia phenotype of reported patients was similar to ARSACS patients from Quebec. The SACS sequencing revealed the novel homozygous c.5150_5151insA frameshift mutation confirming the ARSACS diagnosis. ARSACS is a frequent cause of early onset ataxia/spastic-ataxia worldwide, with unknown frequency in Brazil.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil / Ataxia espástica autossômica recessiva de Charlevoix-Saguenay: relato de uma família do sul do Brasil

ABSTRACT Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil. We present a review on the neuroimaging, ophthalmologic and neurophysiologic clues for ARSACS diagnosis. The early-onset, slowly progressive, spastic-ataxia phenotype of reported patients was similar to ARSACS patients from Quebec. The SACS sequencing revealed the novel homozygous c.5150_5151insA frameshift mutation confirming the ARSACS diagnosis. ARSACS is a frequent cause of early onset ataxia/spastic-ataxia worldwide, with unknown frequency in Brazil.

RESUMO A ataxia espástica autossômica recessiva de Charlevoix-Saguenay (ARSACS) é uma doença neurodegenerativa de início precoce causada por mutações no gene SACS que foi inicialmente descrita na região de Quebec, Canadá. A apresentação típica de ARSACS é caracterizada por ataxia, espasticidade, polineuropatia e hipermielinização das fibras nervosas da retina de início infantil. No presente artigo, descrevemos os achados clínicos e neurorradiológicos que levaram à suspeita de ARSACS em duas primas descendentes de alemães naturais do Rio Grande do Sul, Brasil e revisamos os achados de neuroimagem, oftalmológicos e neurofisiológicos de ARSACS. O fenótipo de ataxia-espástica de início infantil precoce apresentado pelas pacientes era similar ao classicamente descrito em Quebec. O sequenciamento do SACS revelou a mutação nova c.5150_5151insA (mudança na matriz de leitura), em homozigose, confirmando o diagnóstico de ARSACS. A ARSACS é uma causa frequente de ataxia/ataxia-espástica de início precoce mundialmente, entretanto sua frequência é desconhecida no Brasil.

Retinoblastoma in a pediatric oncology reference center in Southern Brazil.

BACKGROUND: Retinoblastoma (Rb) is the most common intraocular tumor diagnosed in children in Brazil. However, detailed information is lacking regarding patient clinical demographics. This study aimed to determine the clinical profile of patients with Rb who were treated in a public university hospital in southern Brazil from 1983 to 2012. METHODS: Patients' medical records were reviewed to retrospectively identify patients with a principal diagnosis of Rb. Rb was classified as hereditary or non-hereditary. Clinical staging was reviewed by an ophthalmologist. Statistical analysis was performed using SPSS. RESULTS: Of 165 patients with a diagnosis of Rb during this period, 140 were included in the study. Disease was unilateral in 65.0 % of patients, bilateral in 32.9 %, and trilateral in 2.1 %. The mean age at onset of the first sign/symptom was 18.1 month, and 35.7 % of patients were diagnosed during the first year of life. The most common presenting signs were leukocoria (73.6 %) and strabismus (20.7 %). The mean age at diagnosis was 23.5 months, and time to diagnosis was 5.4 months. In patients with clinical features of hereditary Rb, both onset of the first sign/symptom and diagnosis were at an earlier age than in patients without these features (12.3 vs 21.6 months [P = 0.001] and 15.9 vs 28.0 months [P < 0.001], respectively). However, there was no significant difference in overall survival between the two groups. Ocular stage at diagnosis was advanced in 76.5 % (Reese V) and 78.1 % (International Classification D or E). Of patients with unilateral and bilateral disease, 35.2 % and 34.8 %, respectively, had extraocular disease at diagnosis; 10.7 % had metastatic disease at diagnosis. Enucleation was observed in 88.1 % and exenteration in 11.9 % of patients; 93.6 % patients were followed until 2012, and 22.9 % relapsed. Overall survival was 86.4 %. CONCLUSIONS: Most Rb diagnoses are still diagnosed in advanced stages of the disease, considerably reducing overall survival time and the rate of eye and vision preservation.

Are Retinal Vessels Calibers Influenced by Blood Pressure Measured at the Time of Retinography Acquisition?

BACKGROUND: Retinal arterial narrowing is associated with higher office blood pressure (BP) and ambulatory blood pressure monitoring, and increased incidence of cardiovascular disease, but it is still unknown if the vessel caliber is associated with BP measured at the time of retinography acquisition. METHODS: Retinal arteriolar and venular calibers were measured by the microdensitometric method in 448 patients with hypertension. Participants underwent 24-hours ambulatory blood pressure (24-h ABP) monitoring simultaneously with the retinography acquisition. Association between arteriolar and venular calibers with increase of 10 mmHg in the mean 24-hours, daily, and nightly BP, and with BP measured at the time of retinography, was evaluated by ANOVA and multivariate analyses. RESULTS: Mean 24-hours, daytime and nighttime systolic and diastolic BP were inversely associated with the arteriolar caliber, but not with the venular caliber. Arteriolar caliber decreased -0.8 (95% CI -1.4 to -0.2) µm per 10-mmHg increase in 24-hours mean systolic BP, adjusted for age, gender, fellow vessel, and duration of hypertension (P = 0.01). The corresponding decreasing in arteriolar caliber by 10 mmHg of increasing in mean diastolic BP was -1.1 µm (-2.0 to -0.2, P = 0.02). The decrease of arteriolar caliber by the same increasing of BP measured at the time of retinography was lower and not statistically significant, particularly for mean diastolic BP and outer arterioles calibers: -1.0 (-1.8 to -0.2) µm in the daytime BP average versus -0.3 (-0.9 to 0.3) at the moment of retinography acquisition. CONCLUSIONS: These findings suggest that the caliber of arteriolar retinal vessels in patients with uncontrolled hypertension are not significantly influenced by blood pressure measured at the time of retinography acquisition.

Association between plasma adiponectin and arteriolar vessel caliber among elderly hypertensive subjects.

Circulating adiponectin has been related to vascular diseases, but few studies examined the relationship between plasma adiponectin and microvascular abnormalities among hypertensive individuals. We tested the association between plasma adiponectin level and retinal vessel calibers in patients with hypertension.This study included 172 patients with confirmed hypertension, aged 18-80 years. Subjects with recent cardiovascular events, advanced heart failure and end-stage renal disease were excluded. Arteriolar and venular calibers were measured in retinographies using a microdensitometric image-processing method. Blood pressure was measured using a validated oscillometric device. We observed a statistically significant inverse association between plasma adiponectin and arteriolar caliber among participants aged 60 years or older after controlling for confounders (Adjusted ß = -0.42; P = .001). In the final model, HbA1C and low-density lipoprotein also remained independently associated with arteriolar caliber. There was no association of adiponectin with venular caliber and retinal vessel calibers in participants <60 years old.Adiponectin is inversely associated with retinal arteriolar caliber in elderly hypertensive participants, suggesting that plasma adiponectin may be a marker of microvascular damage and of higher cardiovascular risk in this age stratum.

[Medical assessments and measurements in ELSA-Brasil]. / Aferições e exames clínicos realizados nos participantes do ELSA-Brasil.

The article describes assessments and measurements performed in the Brazilian Longitudinal Study for Adult Health (ELSA-Brasil). Some assessments including anthropometric assessment, casual blood pressure measurement, and ankle-brachial index have an established clinical application while others including pulse wave velocity, heart rate variability, and carotid intima-media thickness have no established application and do not have reference values for healthy Brazilian population but may be important predictors of cardiovascular outcomes. Blood pressure measurement following postural change maneuver was included in the ELSA-Brasil because it has not been much tested in epidemiological studies. Innovative approaches were developed for assessing the ankle-brachial index using an automatic device instead of the mercury column to measure blood pressure and for assessing the anterior-posterior diameter of the right lobe of the liver by ultrasound for quantitative assessment of nonalcoholic fatty liver disease. All ELSA-Brasil subjects were younger (35 years or more) than those included in other cohorts studying subclinical atherosclerosis. The inclusion of younger individuals and a variety of assessments make the ELSA-Brasil a relevant epidemiology study nationwide and worldwide.

Afericoes e exames clinicos realizados nos participantes do ELSA-Brasil / Medical assessments and measurements in ELSA-Brasil

Este artigo descreve os exames clínicos realizados no Estudo Longitudinal de Saúde do Adulto (ELSA-Brasil). Alguns deles (antropometria, pressão arterial e índice tornozelo-braquial) já têm uso clínico consolidado. Outros, como a velocidade de onda de pulso, variabilidade da frequência cardíaca e medida da espessura médio-intimal de carótidas, carecem de valor de referência na população brasileira não doente e podem constituir preditores importantes de desfechos cardiovasculares. A medida da pressão arterial após manobra postural foi incluída no ELSA-Brasil porque foi pouco testada em estudos epidemiológicos. O ELSA-Brasil inovou na realização do índice tornozelo-braquial, ao usar um aparelho automático em substituição à coluna de mercúrio na medida da pressão arterial, e também na medida do diâmetro ântero-posterior do lobo direito do fígado pela ultrassonografia, proposta para avaliação quantitativa da doença hepática gordurosa não-alcoólica. Os participantes são indivíduos mais jovens (a partir dos 35 anos) do que em outras coortes focadas no estudo da aterosclerose subclínica. A inclusão de indivíduos mais jovens e a diversidade dos exames realizados tornam o ELSA-Brasil um estudo relevante no contexto da epidemiologia brasileira e internacional.

The article describes assessments and measurements performed in the Brazilian Longitudinal Study for Adult Health (ELSA-Brasil). Some assessments including anthropometric assessment, casual blood pressure measurement, and ankle-brachial index have an established clinical application while others including pulse wave velocity, heart rate variability, and carotid intima-media thickness have no established application and do not have reference values for healthy Brazilian population but may be important predictors of cardiovascular outcomes. Blood pressure measurement following postural change maneuver was included in the ELSA-Brasil because it has not been much tested in epidemiological studies. Innovative approaches were developed for assessing the ankle-brachial index using an automatic device instead of the mercury column to measure blood pressure and for assessing the anterior-posterior diameter of the right lobe of the liver by ultrasound for quantitative assessment of nonalcoholic fatty liver disease. All ELSA-Brasil subjects were younger (35 years or more) than those included in other cohorts studying subclinical atherosclerosis. The inclusion of younger individuals and a variety of assessments make the ELSA-Brasil a relevant epidemiology study nationwide and worldwide.

Association between carotid intima-media thickness and retinal arteriolar and venular diameter in patients with hypertension: a cross-sectional study.

OBJECTIVE: Abnormalities in retinal vessels are frequent, but its association with findings in other vascular sites has been scarcely investigated. This study aimed to examine the association between ultrasound-measured carotid intima-media thickness (IMT) and retinal arteriolar and venular diameters, in hypertensive patients. METHODS: In this cross-section study, 173 hypertensive patients had both retinography taken and digitized to determine vessel diameters by an edge-detecting computerized method and carotid ultrasound for semi-automated carotid IMT measurement. The association between the mean common carotid IMT and retinal arterioles and venules diameters was assessed by using multiple linear regression models. RESULTS: The mean (±SD) arteriolar and venular diameters were 102. 8 (±11.6) µm and 128.9 (±15.5) µm, respectively, and common carotid IMT was 0.87 (±0.19) mm. A significant and independent association was demonstrated for carotid IMT and retinal arteriolar caliber (adjusted ß -0.245, p = 0.001) and for carotid IMT and retinal venular caliber (adjusted ß 0.191, p = 0.009) after controlling for age, gender, systolic blood pressure, total cholesterol and HDL (high-density lipoprotein) cholesterol, prior cardiovascular disease, carotid plaque and the retinal fellow vessel. CONCLUSION: In patients with hypertension, carotid intima-media thickness, a marker of macrovascular damage, is significantly and independently associated with microvascular damage, determined by retinal arteriolar and venular calibers.

Human ocular sparganosis in southern Brazil.

We report the first case of human ocular sparganosis in the state of Santa Catarina, southern Brazil. A young female patient presented with three periocular moveable inflammatory masses in her right eye, during two years. By surgical excisional biopsy, a helminth larval stage was removed and identified as sparganum. Clinical, laboratory and epidemiological data on this parasite are presented.

Human ocular sparganosis in southern Brazil / Esparganose ocular humana no sul do Brasil

We report the first case of human ocular sparganosis in the state of Santa Catarina, southern Brazil. A young female patient presented with three periocular moveable inflammatory masses in her right eye, during two years. By surgical excisional biopsy, a helminth larval stage was removed and identified as sparganum. Clinical, laboratory and epidemiological data on this parasite are presented.

Registra-se o primeiro caso de esparganose ocular humana no estado de Santa Catarina, sul do Brasil a partir de paciente adulta que apresentou três massas inflamatórias móveis perioculares, localizadas no olho direito, durante dois anos. Com a excisão cirúrgica o material foi para a biópsia e um estágio larval de helminto foi identificado como espargano. Dados clínicos, laboratoriais e epidemioógicos são apresentados neste trabalho.