Giant Cystic Pheochromocytoma Associated With Neurofibromatosis Type 1: A Case Report.

Pheochromocytomas are tumors that develop from the chromaffin cells of the adrenal medulla. More than 40% of cases of pheochromocytomas are associated with genetic conditions such as neurofibromatosis type 1 (NF1) or von Hippel-Lindau syndrome. Cystic pheochromocytomas are rare, generally asymptomatic, and thus of bigger size at the time of diagnosis. Surgical treatment is necessary to prevent cardiovascular morbidity and malignancy risk. We report the case of a 27-year-old patient admitted for further examination of a left adrenal mass that was discovered by an abdominal CT scan in the context of abdominal pain associated with hypertension evolving for three years. The clinical examination showed the presence of multiple café au lait spots, axillary and inguinal freckling with two dermal neurofibromas diagnosed clinically, as well as Lisch nodules on bilateral ophthalmic examination, thus meeting the clinical criteria for the diagnosis of NF1. The clinical laboratory investigation showed elevated urinary metanephrine and normetanephrine levels. CT scan examination showed a 10 cm left adrenal cystic mass on abdominal CT. This mass uptake of the radioligand in metaiodobenzylguanidine (MIBG) scintigraphy without secondary extra-adrenal localization allowed the diagnosis of a seemingly benign cystic pheochromocytoma to be made. The patient was put on presurgical drug preparation with volume expansion and then underwent left unilateral adrenalectomy. The histopathological study was in favor of a rather aggressive cystic pheochromocytoma with a pheochromocytoma of the adrenal gland scaled (PASS) score of 9. Blood pressure and urine catecholamines at seven days, three months, six months, and one year after surgery were normalized. Cystic pheochromocytoma is a rare tumor with a potentially poor prognosis. It is characterized by a more insidious evolution and a larger volume at diagnosis. It should be considered a diagnosis in patients with a cystic adrenal mass or an extra-adrenal mass with fluctuating blood pressure during surgery. This case illustrates the importance of both presurgical preparation and screening for pheochromocytoma in neurofibromatosis type 1.

Retinitis Pigmentosa Sine Pigmento in a Carrier of Usher Syndrome.

We report a carrier of Usher syndrome type I with retinitis pigmentosa sine pigmento. A 71-year-old male was referred for further evaluation of severe, progressive, painless vision loss in both eyes over the course of four years. He had bilateral sensorineural hearing loss. Upon a comprehensive examination, his best-corrected visual acuity was 20/100 in the right eye and 20/40 in the left eye. He had an unremarkable anterior segment examination and normal intraocular pressures in both eyes. Upon fundus examination, the patient had pale discs, optic disc cupping, and multiple scattered drusen in the macula and at the midperiphery of both eyes. Optical coherence tomography showed retinal nerve fiber layer thinning in all quadrants. The visual field was severely constricted in both eyes. A comprehensive workup for infectious and inflammatory causes, as well as a brain MRI, was unremarkable. Sequencing analysis showed that he carried a heterozygous pathogenic mutation, USH1C c.672C>A (p.Cys224*) variant. Usher syndrome is a rare genetic disease characterized by hearing loss and retinitis pigmentosa. Our case suggests that patients and carriers of Usher syndrome may have a phenotype compatible with retinitis pigmentosa sine pigmento.

Novel compound heterozygous mutations in the PCDH15 gene in a family affected with Usher syndrome type 1F with retinitis pigmentosa sine pigmento / 中华眼底病杂志

Objective:To identify the causative gene in a family affected with Usher syndrome (USH) with retinitis pigmentosa sine pigmento (RPSP) and to analyze the genotype-phenotype correlation.Methods:A retrospective clinical study. A 9-year-old girl with RPSP type 1F USH diagnosed in the ophthalmology clinic of Henan Provincial People's Hospital in November 2019 and her parents were included in the study. The patient had bilateral night blindness for more than 4 years, she suffered from hearing loss 7 years, and is currently binaural sensorineural deafness. The best corrected visual acuity in both eyes was 0.5 +. There was showed no obvious pigmentation on the fundus. The visual acuity of the peripheral field of vision decreased. Optical coherence tomography showed that the outer layer of the peripheral retina became thinner and the ellipsoid band disappeared. On electroretinogram examination, the rod and cone system response was severely decreased. The clinical phenotype of the parents of the child were normal. The peripheral venous blood of the child and his parents were extracted, the whole genome DNA was extracted, the custom developed targeted capture kit (PS400) was used, and the next-generation sequencing technology was used to detect genetic mutations. The suspected pathogenic mutation sites were verified by Sanger; co-segregation was performed among family members. The pathogenicity of variants were evaluated according to the interpretation standards and guidelines of sequence variants. Bioinformatics techniques were used to assess the impact of variants on encoded proteins. Results:The results of genetic testing showed that the proband detected the PCDH15 gene c.4109dupA (p.K1370fs) (M1), c.17dupA (p.Y6_L7delinsX) (M2) compound heterozygous mutation sites, verified by Sanger sequencing, the mutations were in the family in a state of co-segregation. According to the evaluation of sequence variation interpretation standards and guidelines, M1 and M2 were pathogenic variants of the PCDH15 gene. M1 led to a complete change in the transmembrane structure of the encoded protein, and M2 caused the gene to only translate 6 amino acids, which predicted that the PCDH15 protein cannot be synthesized. According to the clinical phenotype, gene mutation pathogenicity and protein structure prediction, the final clinical diagnosis was PCDH15-related type 1F. Conclusions:PCDH15 genes c.4109dupA and c.17dupA are the pathogenic mutation sites of USH in this family. These compound heterozygous new mutations lead to the failure of normal synthesis of PCDH15 protein, which leads to ocular and ear manifestations.

A rare case of Bardet-Biedl syndrome.

We report here a rare case of Bardet-Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism. It was associated with mild hepatomegaly with deranged liver function test and mild renal involvement radiologically, high-arched palate, and low intelligence quotient. The patient was prescribed proper refractive correction and subjected to multidisciplinary management. BBS has ocular and systemic manifestations, requiring a multidisciplinary approach to treatment.

Nutritional value and inclusion levels of residual annatto seed meal in diets for Japanese quails / Valor nutricional y niveles de inclusión de harina residual de semilla de achiote en dietas para codorniz Japonesa / Valor nutritivo e níveis de inclusão do farelo residual da semente de urucum em dietas para codornas Japonesas

Abstract Background: Residual annatto seed meal (RASM) is a byproduct after extraction of bixin in the cosmetic industry and may be used in animal diets. Objective: Two experiments were carried out to determine the nutritive value and effect of RASM inclusion levels in the diets of Japanese quails. Methods: For the digestibility experiment, 160 Japanese quails were distributed in a randomized study with two treatments and 10 replicates with eight birds each. The treatments consisted of a reference diet and a test diet containing 75% of the reference diet and 25% of RASM. For the performance assay, 192 Japanese quails were used in a randomized study with six treatments and four replicates with eight birds each. Treatments consisted of a control corn-based diet (Contr1) and another diet based on sorghum + canthaxanthin (Contr2), and four diets based on sorghum with increasing inclusion levels of RASM (0, 3, 6, and 9%). Results: Digestibility of dry matter and crude protein, metabolization coefficient of gross energy, and retention of calcium and phosphorus were 41.05, 43.12, 47.97, 25.49, and 30.35%, respectively. RASM inclusion did not influence bird productivity; however, feed conversion worsened in treatments with 0-6% RASM inclusion relative to that in Contr1. Yolk color increased due to RASM treatment. Conclusion: RASM may be included in sorghum-based diets for quails at 9%, with improvement in yolk color and no negative effects on productivity and egg quality.

Resumen Antecedentes: La harina de la semilla de achiote (RASM) es un subproducto de la extracción de bixina por la industria cosmética y puede ser usada en alimentación animal. Objetivo: Se realizaron dos experimentos para determinar el valor nutritivo y los efectos de la inclusión de RASM en dietas para codorniz. Métodos: Para el experimento de digestibilidad, 160 codornices japonesas fueron distribuidas en un estudio al azar con dos tratamientos y 10 repeticiones con ocho aves cada uno. Los tratamientos consistieron en una dieta referencia y una dieta de prueba, la cual estuvo compuesta por 75% de la dieta referencia y 25% de RASM. Para el ensayo de desempeño, 192 codornices japonesas fueron usadas en un estudio al azar con seis tratamientos y cuatro repeticiones con ocho aves cada uno. Los tratamientos consistieron en una dieta control a base de maíz (Contr1) y otra a base de sorgo + cantaxantina (Contr2) y cuatro dietas a base de sorgo con niveles de inclusión de RASM (0, 3, 6 y 9%). Resultados: Los coeficientes de digestibilidad de materia seca y proteína bruta, el coeficiente de metabolización de la energía bruta y la retención de calcio y fósforo fueron 41,05; 43,12; 47,97; 25,49 y 30,35%, respectivamente. La inclusión de RASM no influyó la productividad de las aves; entretanto la conversión alimenticia empeoró debido a los tratamientos con 0-6% RASM comparado con el tratamiento Contr1. El color de la yema aumentó debido a la RASM. Conclusión: RASM puede ser incluido en dietas a base de sorgo para codornices en un 9%, debido a la mejora en el color de la yema, además de no tener ningún efecto negativo en el desempeño productivo y calidad del huevo.

Resumo Antecedentes: O farelo residual da semente de urucum (RASM) é um subproduto da extração da bixina pela indústria cosmética e pode ser usado na alimentação animal. Objetivo: Dois experimentos foram conduzidos para determinar o valor nutritivo e os efeitos de inclusão do FRSU em dietas para codornas Japonesas. Métodos: Para o experimento de digestibilidade, 160 codornas Japonesas foram distribuídas em um estudo casualizado com dois tratamentos e 10 repetições com oito aves cada. Os tratamentos consistiram em uma dieta referência e uma dieta teste, a qual era composta por 75% da dieta referência e 25% de RASM. Para o ensaio de desempenho, 192 codornas Japonesas foram usadas em estudo ao acaso com seis tratamentos e quatro repetições com oito aves cada. Os tratamentos consistiram em uma dieta controle a base de milho (Contr1) e outra à base de sorgo com cantaxantina (Contr2) e quatro dietas a base de sorgo com níveis de inclusão de RASM (0, 3, 6 e 9%). Resultados: Os coeficientes de digestiblidade de matéria seca e proteína bruta, coeficiente de metabolização da energia bruta e retenção de cálcio e fósforo foram 41,05; 43,12; 47,97; 25,49 e 30,35%, respectivamente. A inclusão do FRSU não influenciou a produtividade das aves; entretanto, a conversão alimentar piorou devido aos tratamentos com 0-6% FRSU comparado com o tratamento Contr1. A cor da gema aumentou devido ao FRSU. Conclusão: RASM pode ser incluido em dietas baseadas em sorgo para codornas em 9%, devido a mehoria na cor da gema e nenhum efeito negativo no desempenho produtivo e qualidade de ovo.

A rare case of Evans syndrome associated with sudden loss of vision: A case report.

PURPOSE: To report a case of Evans syndrome with a vascular occlusive event leading to severe loss of vision. CASE REPORT: A 12-year-old boy with Evans syndrome presented with painless acute loss of vision in the left eye during a period of remission from the disease. Examination showed visual acuity of hand motion in the left eye, left relative afferent pupillary defect, pale optic nerve head, and attenuated vessels. Optical coherence tomography showed thin macula in both eyes, and fundus fluorescein angiography revealed delayed filling time of the arterial phase in the left eye, with attenuation and sclerosis of the arterioles. An electrophysiological study showed an electronegative electroretinogram. Based on these findings, we reached a concurrent diagnosis of atypical retinitis pigmentosa in both eyes along with a major superimposed vascular occlusive event in the left eye leading to severe visual loss. CONCLUSION: This is a case describing a rare ocular complication of Evans syndrome, leading to severe loss of vision due to vascular occlusion of unknown mechanism.

The effects of two longpass filters on visual performance.

PURPOSE: This study compared visual performance and optical properties of three filters. METHOD: Two groups of twenty adults were recruited: wearers of progressive addition lenses (PAL, 46-73 years) and wearers of single vision lenses (SVL, 26-55 years). Three spectacle filters (Hoya, Japan) were compared: clear control, Standard Drive (STD), and Professional Drive (PRO) lenses. Optical transmittance was measured by a Jasco V-650 spectrophotometer. Best corrected visual acuity (BCVA) was measured in photopic (BCVAphotopic) and mesopic (BCVAmesopic) conditions and under glare (BCVAglare). Photopic contrast sensitivity (CS) was also measured. RESULTS: The three longpass filters show cutoff at 426±2nm (STD/PRO) and 405±2nm (clear lens). BCVAglare improved with Drive filters compared to the clear one (p<0.05) from 0.03 to -0.02 (STD) and to -0.01 (PRO) for PAL and from -0.08 to -0.12 (STD and PRO) for SVL. For PAL, BCVAmesopic improved from 0.15 to 0.12 (STD, p<0.05) and 0.13 (PRO), while no substantial difference was observed for SVL. CS showed some improvements with Drive lenses at some angular frequencies between 6 and 18 cycles/deg, mainly for the PAL group. No BCVAphotopic differences were found. After testing all filters, each for two weeks, 79% (PAL) and 60% (SVL) of participants preferred Drive lenses. CONCLUSIONS: Drive lenses are found to maintain or improve some visual functions compared to the clear lens. The improvement of mesopic visual acuity, visual acuity under glare, and contrast sensitivity is mainly attributed to the reduction of intraocular light scattering as a consequence of the total light attenuation in the spectral range below the cutoff.

Avaliação da utilização das cinzas da escuma gerada em Reator Anaeróbico de Manta de Lodo e Fluxo Ascendente como pigmento inorgânico de coloração alaranjada / Evaluation of the use of ashes of scum generated from the Upflow Anaerobic Sludge Blanket reactor as orange inorganic pigment

RESUMO A escuma é um resíduo gerado durante o tratamento anaeróbico de efluentes domésticos que necessita de periódica remoção para não comprometer a eficiência do processo. O presente trabalho teve por objetivo utilizar as cinzas da escuma gerada em Reator Anaeróbico de Manta de Lodo e Fluxo Ascendente (RALF) como pigmentos inorgânicos. Amostras de escumas coletadas em diferentes meses foram submetidas a tratamento térmico a 900°C por 1h para remoção da matéria orgânica. As cinzas obtidas foram desaglomeradas em peneira e submetidas às análises química (Fluorescência de raios X - FRX), mineralógica (Difração de raios X - DRX), morfológica (Microscopia Eletrônica de Varredura por Efeito de Campo - FE-MEV) e de coloração (espectroscopia de reflectância difusa na região do Ultravioleta-Visível - UV-Vis). As amostras apresentaram composição majoritária de elementos comuns no ambiente, sendo as fases principais identificadas o quartzo (dióxido de silício - SiO2), a anidrita (sulfato de cálcio - CaSO4) e a hematita (óxido de ferro - Fe2O3). A granulometria das amostras é adequada para a aplicação como pigmento cerâmico; a coloração obtida foi alaranjada intensa e boas propriedades foram identificadas, como boa opacidade, omitindo a coloração do suporte cerâmico, além de não existirem defeitos superficiais que indicassem matéria orgânica residual ou incompatibilidade com o esmalte utilizado. Sendo assim, as cinzas da escuma gerada em RALF apresentaram características interessantes para a aplicação como pigmentos cerâmicos.

ABSTRACT Scum is a residue generated during the anaerobic treatment of domestic effluents and requires periodical removal in order not to harm the process efficacy. This study aimed to use the scum ashes generated from Upflow Anaerobic Sludge Blanket (UASB) reactor as inorganic pigments. The scum samples collected in different months were thermally treated at 900°C for one hour for removal of organic matter. These ashes were dispersed and submitted to chemical (X-ray Fluorescence - XRF), mineralogical (X-ray Diffraction - XRD), morphological (Field Emission Scanning Electron Microscopy - FE-SEM) and color (Ultraviolet-Visible Diffuse Reflectance Spectroscopy - UV-Vis DRS) analyses. The samples were composed mainly by elements commonly found in the environment. The main crystalline phases are quartz (silicon dioxide - SiO2), anhydrite (calcium sulfate - CaSO4) and hematite (iron oxide - Fe2O3). Also, these particles presented suitable size for application as ceramic pigment and the color obtained was intense orange. When applied as ceramic pigment at the decorative fire temperature, the enameled piece presented intense color and the pigment had good opacity, hiding the ceramic support color, besides, they presented no surface deformations, which indicates the pigments are compatible with enamel. Thus, scum ashes generated in UASB reactor presented interesting characteristics to be applied as ceramic pigments.

Influence of macular pigment optical density spatial distribution on intraocular scatter.

PURPOSE: This study evaluated the summed measures of macular pigment optical density (MPOD) spatial distribution and their effects on intraocular scatter using a commercially available device (C-Quant, Oculus, USA). METHODS: A customized heterochromatic flicker photometer (cHFP) device was used to measure MPOD spatial distribution across the central 16° using a 1° stimulus. MPOD was calculated as a discrete measure and summed measures across the central 1°, 3.3°, 10° and 16° diameters. Intraocular scatter was determined as a mean of 5 trials in which reliability and repeatability measures were met using the C-Quant. MPOD spatial distribution maps were constructed and the effects of both discrete and summed values on intraocular scatter were examined. RESULTS: Spatial mapping identified mean values for discrete MPOD [0.32 (s.d.=0.08)], MPOD summed across central 1° [0.37 (s.d.=0.11)], MPOD summed across central 3.3° [0.85 (s.d.=0.20)], MPOD summed across central 10° [1.60 (s.d.=0.35)] and MPOD summed across central 16° [1.78 (s.d.=0.39)]. Mean intraocular scatter was 0.83 (s.d.=0.16) log units. While there were consistent trends for an inverse relationship between MPOD and scatter, these relationships were not statistically significant. Correlations between the highest and lowest quartiles of MPOD within the central 1° were near significance. CONCLUSIONS: While there was an overall trend of decreased intraocular forward scatter with increased MPOD consistent with selective short wavelength visible light attenuation, neither discrete nor summed values of MPOD significantly influence intraocular scatter as measured by the C-Quant device.

The state of global scientific literature on chlorophyll-A / O estado da arte da literatura científica global sobre clorofila-A

Chlorophyll is a green pigment common to all photosynthetic cells of autotrophic organisms in aquatic or terrestrial environments. Techniques used to quantify this pigment include fluorescence, UV spectrophotometer, chromatography, HPLC, and remote sensing. Determination of the photosynthetic pigment chlorophyll - a (Chl-a), has been used widely in many areas of science. The present study investigated the state of the global scientific literature on Chl-a, determining the countries, approaches, and environments where Chl-a has been studied and the geographic scale used. To obtain this scientometric information, we conducted a study from the Scopus database over a 21-year period from 1990 through 2011. This period saw significant increases in the number of publications (r=0.84 and P< 0.001), different journals where publications appeared (160 journals), major papers with a multidisciplinary character, and a predominance of descriptive approaches with studies conducted in aquatic and marine habitats at a regional scale. The country with the highest number of publications was China (21.64% of total papers; location of study), and the USA had the highest number of authors (19.52% of total papers). The main determining factor for publications was socioeconomic (according to model selection criteria; AIC). This study highlight the multidisciplinary use of Chl-a, and may give some directions to new studies about this pigment.

A clorofila é um pigmento verde, comum em todas as células fotossintéticas de organismos autotróficos, de ambientes aquáticos ou terrestres. As técnicas mais utilizadas para quantificar esse pigmento são a fluorescência, a espectrofotometria de UV, a cromatografia HPLC e o uso de sensores remotos. Assim, a determinação do pigmento fotossintético chlorofila-a (Chl-a), tem sido utilizada amplamente em diversas áreas da ciência. Portanto, o objetivo deste trabalho foi investigar o estado da arte da literatura científica para o pigmento fotossintetizante clorofila-a, determinando os países de estudo, os fatores socioeconômicos- ambiental que estão ligados ao estudo de clorofila ­a, abordagens utilizadas, e ainda, os ambientes estudados, a escala geográfica e as revistas. Para obter tais informações realizou-se um estudo cienciométrico, a partir da base de dados Scopus, numa escala temporal de 21 anos (entre 1990 e 2011). Os padrões encontrados para as pesquisas com Chl-a são o aumento temporal de publicações (r=0.84 and P<0.001), a diversidade de revistas que publicaram estudos sobre o assunto (160 revistas), maior número de publicações com caráter multidisciplinar, predomínio de estudos com abordagens descritivas realizados em ambientes aquáticos e marinhos e estudos em escala geográfica regional. A China foi o país mais estudado com 21,64% do total de artigos publicados, e os estadunidenses lideraram com o maior número de publicações sobre este assunto (19,52% do total de artigos publicados). Utilizando o critério de seleção de modelos de Akaike observou-se que as publicações são impulsionadas pelo fator socioeconômico PIB. Este estudo demonstrou o uso multidisciplinar da Chl-a e pode indicar algumas direções para novos estudos com esse pigmento.

Uveitis-glaucoma-hyphema syndrome associated with recurrent vitreous hemorrhage.

CASE REPORT: A 61-year-old pseudophakic male with recurrent blurred vision episodes associated with uveitis, hyphema, glaucoma and vitreous hemorrhage. Iris transillumination defects and apposition of the optic and iris were found. The patient was diagnosed with Uveitis-Glaucoma-Hyphema (UGH) Syndrome. DISCUSSION: Mechanical irritation of the iris is a consequence of intraocular lens malposition and causes UGH Syndrome. Occasionally it is associated with vitreous hemorrhage. Lens malposition is detected by optical coherence tomography and/or ultrasound biomicroscopy.

Macular pigment spatial distribution effects on glare disability.

PURPOSE: This project explored the relationship of the macular pigment optical density (MPOD) spatial profile with measures of glare disability (GD) across the macula. METHODS: A novel device was used to measure MPOD across the central 16° of retina along four radii using customized heterochromatic flicker photometry (cHFP)at eccentricities of 0°, 2°, 4°, 6° and 8°. MPOD was measured as discrete and integrated values at all measured retinal loci. GD was calculated as a difference in contrast sensitivity (CS) between no glare and glare conditions using identical stimuli presented at the same eccentricities. GD was defined as [(CSNo Glare-CSGlare)/CSNo Glare] in order to isolate the glare attenuation effects of MPOD by controlling for CS variability among the subject sample. Correlations of the discrete and integrated MPOD with GD were compared. RESULTS: The cHFP identified reliable MPOD spatial distribution maps demonstrating a 1st-order exponential decay as a function of increasing eccentricity. There was a significant negative correlation between both measures of foveal MPOD and GD using 6 cycles per degree (cpd) and 9 cpd stimuli. Significant correlations were found between corresponding parafoveal MPOD measures and GD at 2 and 4° of eccentricity using 9 cpd stimuli with greater MPOD associated with less glare disability. CONCLUSIONS: These results are consistent with the glare attenuation effects of MP at higher spatial frequencies and support the hypothesis that discrete and integrated measures of MPOD have similar correlations with glare attenuation effects across the macula. Additionally, peak foveal MPOD appears to influence GD across the macula.

Antioxidant activity of anthocyanins from quixabeira (Sideroxylon obtusifolium) fruits / Atividade antioxidante de antocianinas de frutos de quixabeira (Sideroxylon obtusifolium)

ABSTRACT The fruits of Sideroxylon obtusifolium T.D. Penn. are small berries which have dark purple skin color at maturity due the anthocyanins presence. Therefore, the aim of this research was to evaluate the antioxidant activity of anthocyanins from mature fruits which were obtained at a semi-arid region of Paraiba/BR. In addition, the total anthocyanins content was measured by the pH differential method. The anthocyanins were purified by solid-phase extraction (SPE) using C18 Sep-Pak cartridges and submitted to antioxidant activity determined by scavenging 2,2-diphenyl-1-picrylhydrazyl (DPPH·). The butylated hydroxytoluene (BHT) was the positive control and the results were expressed as DPPH· scavenging activity (%). Anthocyanins content were higher in the husks (236.15 mg cyanidin-3-glucoside 100g-1 fw) than in the pulp (30.49 mg cyanidin-3-glucoside 100g-1 fw). The results showed that the potential free radical scavenging grew with the increase of concentration used and the reaction time. The ability of the anthocyanins in scavenging the free radical was statistically greater than the BHT one. The anthocyanins which were present in this fruit may supply substantial dietary source of antioxidant that may promote health and produce disease prevention effects or that could be applied in food industry as a good source of natural pigments.

RESUMO Os frutos da Sideroxylon obtusifolium TD Penn., são bagas pequenas que, quando maduras, apresentam a coloração roxo-escuro devido à presença de antocianinas. Assim, o objetivo desta pesquisa foi avaliar a atividade antioxidante das antocianinas desses frutos maduros obtidos da região do semiárido da Paraíba/BR. Além disso, o teor de antocianinas total foi quantificado pelo método de pH diferencial. As antocianinas foram purificadas por extração em fase sólida (EFS) utilizando cartuchos Sep-Pak C18 e submetidas à avaliação da atividade antioxidante por meio da capacidade de sequestrar o radical DPPH·. Butil-hidroxi-tolueno (BHT) foi utilizado como controle positivo e os resultados foram expressos como percentual de sequestro de radical livre. Os resultados demonstraram que o teor de antocianinas presente nas cascas foi maior (236,15 mg de cianidina-3-glicosídeo 100g- 1, peso fresco) do que na polpa (30,49 mg de cianidina-3-glicosídeo 100g-1, peso fresco) e que o percentual de sequestro de radical livre aumentou com o aumento da concentração utilizada e o tempo de reação. A habilidade das antocianinas em sequestrar o radical livre foi estatisticamente superior à do BHT. As antocianinas presentes nesta fruta podem fornecer fonte dietética significativa de antioxidantes que podem promover a saúde e produzir efeitos de prevenção de doenças ou ser aplicada na indústria de alimentos como uma boa fonte de pigmentos naturais.

Macular pigment optical density spatial distribution measured in a subject with oculocutaneous albinism.

PURPOSE: Previous studies of macular pigment optical density (MPOD) distribution in individuals with oculocutaneous albinism (OCA) have primarily used objective measurement techniques including fundus reflectometry and autofluorescence. We report here on a subject with OCA and their corresponding MPOD distribution assessed through heterochromatic flicker photometry (HFP). METHODS: A subject with a history of OCA presented with an ocular history including strabismus surgery of the LE with persistent amblyopia and mild, latent nystagmus. Best corrected visual acuity was 20/25- RE and 20/40- LE. Spectral domain optical coherence tomography (SD-OCT) and fundus photography were also obtained. Evaluation of MPOD spatial distribution up to 8 degrees eccentricity from the fovea was performed using HFP. RESULTS: SD-OCT indicated a persistence of multiple inner retinal layers within the foveal region in the RE and LE including symmetric foveal thickening consistent with foveal hypoplasia. Fundus photography showed mild retinal pigmented epithelial (RPE) hypopigmentation and a poorly demarcated macula. OriginPro 9 was used to plot MPOD spatial distribution of the subject and a 33-subject sample. The OCA subject demonstrated a foveal MPOD of 0.10 with undetectable levels at 6 degrees eccentricity. The study sample showed a mean foveal MPOD of 0.34 and mean 6 degree eccentricity values of 0.03. CONCLUSIONS: Consistent with previous macular pigment (MP) studies of OCA, overall MPOD is reduced in our subject. Mild phenotypic expression of OCA with high functional visual acuity may represent a Henle fiber layer amenable to additional MP deposition. Further study of MP supplementation in OCA patients is warranted.

HISTOLOGICAL DESCRIPTION OF THE REPRODUCTIVE SYSTEM OF MALE AND FEMALE HATCHLINGS OF THE MAGDALENA RIVER TURTLE (Podocnemis lewyana) / Descripción histológica del sistema reproductivo de machos y hembras de la tortuga del Río Magdalena (Podocnemis lewyana)

In this study we described the macroscopic and microscopic histology of the reproductive system of male and female Podocnemis lewyana neonates (3.5 months old). We found macroscopic differences in the morphology of the gonads between the sexes, with ovaries being twice as long as testes, and testes being twice as wide as ovaries. Microscopically, we identified several immature elements, such as the lack of a muscle layer in the oviduct of females, and simple epithelia instead of pseudostratified epithelia in the oviduct and epididymis described in reptile adults. We also found a black pigment observed macroscopically in the mesovarium, and macroscopically and histologically in the epididymis. This pigment is consistent with the center of melano-macrophages described in other vertebrates. Finally we described a supporting mesenchymal structure, the appendage of the oviduct, which was much longer than what has been described in other Podocnemis species.

En este estudio se realizó una descripción macro y microscópica del sistema reproductivo de tortugas machos y hembras de neonatos de Podocnemis lewyana de 3,5 meses de edad. Se hallaron diferencias macroscópicas en las gónadas, esto es, el ovario fue el doble de largo relativo al testículo, pero el testículo fue el doble de ancho relativo al ovario. Microscópicamente se identificaron varios elementos inmaduros tales como la ausencia de una capa muscular reportada en el oviducto de hembras de reptiles adultas, y epitelios simples en lugar de epitelios pseudoestratificados en oviducto y epidídimo en reptiles adultos. También se describe un pigmento negro observado macroscópicamente en el mesoovario de las hembras, y macroscópica e histológicamente en el epidídimo de los machos. Este pigmento es compatible con los centros de melanomacrófagos reportados en otros vertebrados. Finalmente, se describe también una estructura mesenquimatosa de soporte que identificamos como el apéndice del oviducto, la cual fue mucho más larga que las descritas en otras especies de Podocnemis.

Retinitis pigmentosa sine pigmenti. Debut with macular oedema.

CASE REPORT: A 25-year-old woman, with metamorphopsia in her left eye of one year onset. The examination revealed a bilateral cystoid macular oedema (CME) and vascular attenuation. We describe the diagnostic tests, as well as differential diagnosis and treatment response with carbonic anhydrase inhibitors. DISCUSSION: The retinitis pigmentosa sine pigment is a subtype of atypical retinitis pigmentosa characterised by the absence of pigment deposits. The night blindness is milder, and perimetric and electroretinographic impairment is lower. CME is an important cause of central vision loss, and responds to anhydrase carbonic inhibitors.

Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.

AIM: To screen mutations in the retinitis pigmentosa 1 (RP1) gene and the rhodopsin (RHO) gene in Chinese patients with retinitis pigmentosa sine pigmento (RPSP) and describe the genotype-phenotype relationship of the mutations. METHODS: Twenty affected, unrelated Chinese individuals with RPSP (4 autosomal dominant RPSP, 12 autosomal recessive RPSP and 4 unknown inheritance pattern) were recruited between 2009 and 2012. The clinical features were determined by complete ophthalmologic examinations. Polymerase chain reaction (PCR) and direct DNA sequencing were used to screen the entire coding region and splice junctions of the RP1 gene and the RHO gene. The cosegregation analysis and population frequency studies were performed for patients with identified mutations. RESULTS: Five variants in the RP1 gene and one in the RHO gene were detected in 20 probands. Four missense changes (rs444772, rs446227, rs414352, rs441800) and one non-coding variant (rs56340615) were common SNPs and none of them showed a significant relationship with RPSP. A missense mutation p.R1443W was identified in the RP1 gene in three affected individuals from a family with autosomal dominant RPSP and was found to cosegregate with the phenotype in this family, suggestive of pathogenic. In addition, population frequency analysis showed the p.R1443W mutation was absent in 300 healthy controls. CONCLUSION: The identification of p.R1443W mutation cosegregating in a family with autosomal dominant RPSP highlights an atypical phenotype of the RP1 gene mutation, while RHO gene is not associated with the pathogenesis of RPSP in this study. To our knowledge, this is the fist mutation identified to associate with RPSP.

Evaluation of marking efficiency of different alizarin red S concentrations on body fish structures in Oreochromis niloticus (Perciformes: Cichlidae) juveniles

The use of alizarin red S (ARS) marked tilapias could provide valuable fisheries management information to evaluate fish stocking events and may facilitate aquaculture management practices. As a new technique in fishes, the aim of this study was to compare and evaluate the chemical marks produced in tilapia juveniles by ARS through two treatments: 1) 12 hours of immersion and 2) immersion after osmotic induction. This was analyzed at three concentrations: 50, 75 and 100mg/l, and in three structures: otoliths, fish scales and caudal fin rays of Oreochromis niloticus juveniles. After three culture months 80% of specimens were analyzed and significant differences (p<0.05) in mark intensity were detected between treatments for otoliths and fin rays, but not for fish scales. Significant differences between concentrations were found for the 12h immersion treatment, while no significant differences were detected with osmotic induction. Our results showed that marks appeared at all concentrations, and none of the concentrations produced weak marks. Osmotic induction had a greater mortality than the 12h immersion procedure. After eight culture months the rest of the specimens were analyzed and the mark permanence was observed in all cases. According to the present results we recommend the marking process of 12h immersion treatment at 100mg/L concentration.

El uso de alizarina roja S (ARS) para marcar tilapias podría proporcionar información valiosa para el manejo de su pesquería. Para evaluar pesquerías acuaculturales manejadas con siembras o repoblamientos de peces se comparó y evaluó la marca producida por la alizarina roja S, empleando dos tratamientos: 1) Inmersión en ARS durante 12h; e 2) Inmersión en ARS después de un choque osmótico. El análisis se realizó a tres concentraciones: 50, 75 y 100mg/l y en tres estructuras: otolitos, escamas y radios de la aleta caudal de Oreochromis niloticus. Ochenta por ciento de los ejemplares fueron cultivados durante tres meses y analizados posteriormente. Los resultados mostraron diferencias entre las concentraciones de la marca para el tratamiento de 12h de inmersión mientras que no hubo diferencias entre las concentraciones para el tratamiento con inducción osmótica. Se encontraron diferencias en la intensidad de la marca entre los tratamientos para otolitos y radios de las aletas pero para las escamas no hubo diferencias significativas. Todas las concentraciones produjeron marcas (desde débiles a intensas), sin embargo la concentración de 100mg/l no produjo marcas débiles. El tratamiento por inducción osmótica presentó mayores niveles de mortalidad. Después de ocho meses de cultivo el resto de los ejemplares fueron analizados y se observó la permanencia de las marcas en todos los casos. En vista de lo anterior, para los propósitos de marcaje se recomienda el uso del tratamiento de inmersión por 12h y una concentración de 100mg/l.

Carotenoides bixina e norbixina extraídos do urucum (Bixa orellana L.) como antioxidantes em produtos cárneos / Carotenoids bixin and norbixin from annatto (Bixa orellana L.) as antioxidants in meat products

A oxidação lipídica é uma das principais alterações que acometem os derivados cárneos em razão da composição química rica em lipídios e íons ferro, utilização de processos térmicos e de moagem, além do frequente uso do cloreto de sódio, um reconhecido catalisador desta reação. Os antioxidantes são substâncias utilizadas para inibir ou retardar a rancidez oxidativa, porém, seu uso desperta a atenção de consumidores e agências reguladoras, quanto à segurança que acompanha o consumo de aditivos sintéticos. Este trabalho teve por objetivo avaliar o uso dos carotenoides bixina e norbixina como antioxidantes em produtos cárneos por meio da revisão de suas características químicas, métodos de obtenção, toxicidade e aplicações tecnológicas. Esses pigmentos são extraídos das sementes do urucum (Bixa orellana L.) por métodos que envolvem o uso de solventes orgânicos, extração supercrítica ou ainda a utilização da tecnologia de micro-ondas. No Brasil, o uso dessas substâncias é previsto na legislação como corante alimentício, porém, estes carotenoides apresentam extensas cadeias carbônicas insaturadas que permitem a adição de radicais livres e lhes conferem a capacidade de atuar como antioxidantes. As diferenças estruturais entre bixina e norbixina resultam em particularidades quanto à polaridade, solubilidade, coloração e, por consequência, determinam singulares aplicações tecnológicas. Nas concentrações previstas pelas agências reguladoras, o consumo desses carotenoides é seguro e além das aplicações como corante, podem ser utilizados pela indústria como antioxidantes naturais, oportunizando uma alternativa capaz de substituir ou minimizar o uso de aditivos sintéticos em produtos cárneos.

Lipid oxidation is one of the major modifications that affect meat products due to chemical composition, heat and grinding processes beyond the routine use of sodium chloride, a recognized catalyst of this reaction. Antioxidants are substances used to inhibit or retard oxidative rancidity. However the use of these compounds has been drawing the attention of consumers and regulatory agencies about the safety of synthetic additives consumption. This study aimed to evaluate the use of carotenoids bixin and norbixin as antioxidants in meat products by review of the chemical characteristics, methods of production, toxicity and technological applications. These pigments are extracted from annatto (Bixa orellana L.) using organic solvents, supercritical extraction or microwaves. In Brazil, the use of these substances is forecast by law as food colorant, however, this carotenoids show a large unsaturated carbon chains that allow the addition of free radicals and enable their use as antioxidant. The structural differences between bixin and norbixin result in distinct polarity, solubility and coloration, and consequently in different technological applications. At concentrations established by regulatory agencies, the use of these compounds is safe and, in addition to applications such as dyes, can be used by industries as natural antioxidants, which is an alternative capable of replace or minimize the use of synthetic additives in meat products.

Melanoma de tipo animal / Animal-type melanoma

Lo que se ha dado en llamar melanoma de tipo animal es un tumor aún no bien determinado ni clasificado. Tiene similitudes clínicas e histopatológicas con el melanoma que se observa en los caballos de pelaje tordillo: un infiltrado alarmante, denso y extenso, de células que ocupan toda la dermis y aún el celular subcutáneo, acompañado sin embargo de un pronóstico benigno y larga sobrevida. El nombre propuesto por Zembowicz et ál., melanocitoma epitelioide pigmentado, parece más adecuado para esta rara variante de melanoma.

Animal-type melanoma is a rare distinct variant of melanoma, charac-terized by a dense proliferation of epithelioid and spindle-shaped mela-nocytes occupying the dermis and the hypodermis, and resembles theheavily pigmented melanomas as seen in grey horses. Only a limitednumber of cases have been reported and, as such, the clinical character-istics of this melanoma variant are incompletely understood. Despite thehigh mean thickness of the tumors, reports indicate a less aggressive behavior and a better outcome of this tumor when compared with conven-tional melanoma, but the underlying pathways related to this particularoutcome are still unknown. As proposed by Zembowicz et ál., the term‘pigmented epithelioid melanocitoma’ seems much more suitable.