RESUMO
Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5' untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral cataract development early in life and may be misdiagnosed as hemochromatosis. This case report describes a Brazilian family with a clinical diagnosis of hereditary hyperferritinemia-cataract syndrome, which was submitted to ferritin light chain gene sequencing. The genetic mutation c.-164C>G was identified in the 5' untranslated region. In conclusion, genetic testing can be used for accurate diagnosis of hereditary hyperferritinemia-cataract syndrome to avoid misdiagnosis of hemochromatosis, other diseases associated with iron overload or ophthalmic diseases.
Assuntos
Catarata , Hemocromatose , Humanos , Apoferritinas/genética , Hemocromatose/genética , Regiões 5' não Traduzidas , Brasil , Catarata/diagnóstico , Catarata/genética , Ferro , LinhagemRESUMO
PURPOSE: The aim of this study was to describe a simple, accessible, and reliable method using a smartphone for evaluating oblique muscle dysfunctions. METHODS: The photograph rotation tool in the iPhone PHOTO app was used by 75 examiners to evaluate 22 photographs from only 9 patients, captured in infra- and supra-dextroversion, and infra- and supra-levoversion, as not all the patients were photographed in the 4 positions mentioned. Each patient received a score for the superior and inferior oblique muscle functions, ranging from -4 (hypofunction) to 4 (hyperfunction) or 0 (normal function), using preediting and postediting photographs. These values were compared with the scores previously given by trained personnel in strabismus screening. The difference in score between the two groups was expressed in natural (whole and non-negative) numbers. The mean and pattern deviation were then calculated. RESULTS: The scores of most of the edited photos showed a lower mean than those of the unedited ones, except for a patient with left superior oblique hyperfunction. The patients with no oblique dysfunction and those with right superior oblique hyperfunction demonstrated (after editing the photograph) scores with greater similarity with their initial scores (p<0.05 and p<0.01, respectively). Similar results were found in the patients with oblique hypofunctions and right inferior oblique hyperfunction (p<0.01). CONCLUSION: The proposed method for assessing muscular function in vertical strabismus is reproducible, accessible, simple, and reliable, and provides better consistency to the admeasurement.
Assuntos
Smartphone , Estrabismo , Humanos , Músculos Oculomotores , Estudos Retrospectivos , Rotação , Estrabismo/diagnósticoRESUMO
PURPOSE: To describe a new method for measuring anomalous head positions by using a cell phone. METHODS: The photo rotation feature of the iPhone® PHOTOS application was used. With the patient seated on a chair, a horizontal stripe was fixed on the wall in the background and a sagittal stripe was fixed on the seat. Photographs were obtained in the following views: front view (photographs A and B; with the head tilted over one shoulder) and upper axial view (photographs C and D; viewing the forehead and nose) (A and C are without camera rotation, and B and D are with camera rotation). A blank sheet of paper with two straight lines making a 32-degree angle was also photographed. Thirty examiners were instructed to measure the rotation required to align the reference points with the orthogonal axes. In order to set benchmarks to be compared with the measurements obtained by the examiners, blue lines were digitally added to the front and upper view photographs. RESULTS: In the photograph of the sheet of paper (p=0.380 and a=5%), the observed values did not differ statistically from the known value of 32 degrees. Mean measurements were as follows: front view photograph A, 22.8 ± 2.77; front view B, 21.4 ± 1.61; upper view C, 19.6 ± 2.36; and upper view D, 20.1 ± 2.33 degrees. The mean difference in measurements for the front view photograph A was -1.88 (95% CI -2.88 to -0.88), front view B was -0.37 (95% CI -0.97 to 0.17), upper view C was 1.43 (95% CI 0.55 to 2.24), and upper view D was 1.87 (95% CI 1.02 to 2.77). CONCLUSION: The method used in this study for measuring anomalous head position is reproducible, with maximum variations for AHPs of 2.88 degrees around the X-axis and 2.77 degrees around the Y-axis.
Assuntos
Cabeça/diagnóstico por imagem , Fotografação/normas , Postura/fisiologia , Smartphone , Software , Humanos , Variações Dependentes do Observador , Fotografação/métodos , Padrões de Referência , Valores de Referência , Reprodutibilidade dos Testes , Rotação , Fatores de TempoRESUMO
ABSTRACT Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5' untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral cataract development early in life and may be misdiagnosed as hemochromatosis. This case report describes a Brazilian family with a clinical diagnosis of hereditary hyperferritinemia-cataract syndrome, which was submitted to ferritin light chain gene sequencing. The genetic mutation c.-164C>G was identified in the 5' untranslated region. In conclusion, genetic testing can be used for accurate diagnosis of hereditary hyperferritinemia-cataract syndrome to avoid misdiagnosis of hemochromatosis, other diseases associated with iron overload or ophthalmic diseases.
RESUMO
ABSTRACT Purpose: The aim of this study was to describe a simple, accessible, and reliable method using a smartphone for evaluating oblique muscle dysfunctions. Methods: The photograph rotation tool in the iPhone PHOTO app was used by 75 examiners to evaluate 22 photographs from only 9 patients, captured in infra- and supra-dextroversion, and infra- and supra-levoversion, as not all the patients were photographed in the 4 positions mentioned. Each patient received a score for the superior and inferior oblique muscle functions, ranging from -4 (hypofunction) to 4 (hyperfunction) or 0 (normal function), using preediting and postediting photographs. These values were compared with the scores previously given by trained personnel in strabismus screening. The difference in score between the two groups was expressed in natural (whole and non-negative) numbers. The mean and pattern deviation were then calculated. Results: The scores of most of the edited photos showed a lower mean than those of the unedited ones, except for a patient with left superior oblique hyperfunction. The patients with no oblique dysfunction and those with right superior oblique hyperfunction demonstrated (after editing the photograph) scores with greater similarity with their initial scores (p<0.05 and p<0.01, respectively). Similar results were found in the patients with oblique hypofunctions and right inferior oblique hyperfunction (p<0.01). Conclusion: The proposed method for assessing muscular function in vertical strabismus is reproducible, accessible, simple, and reliable, and provides better consistency to the admeasurement.
RESUMO Objetivo: Descrição de um método simples, acessível e confiável para a medida das disfunções dos músculos oblíquos, utilizando-se smartphone. Métodos: Foi utilizado o recurso de rotação de fotografias do aplicativo FOTOS do iPhone®; 75 examinadores avaliaram 22 fotos de 9 pacientes, obtidas em infra e supra dextroversão, infra e supra levoversão (nem todos os pacientes foram fotografados nas 4 posições citadas). Conferiu-se aos pacientes uma pontuação para a função do músculo oblíquo superior e músculo oblíquo inferior, que variou de -4 (negativo para hipofunção) a +4 (positivo para hiperfunção), ou 0 (normofuncionantes), antes e depois da edição das fotografias. Esses valores foram comparados à avaliação prévia atribuída pelos assistentes do estrabismo. Computou-se a diferença da pontuação entre eles em números naturais (inteiros e não negativos); foram calculadas média e desvio padrão dessas medidas. Resultado: A medida da maioria das fotos editadas apresentou média inferior as não editadas, à exceção de um paciente com hiperfunção de oblíquo superior esquerdo. Pacientes sem disfunção de oblíquos demonstraram, após edição das fotos, maior similaridade com o valor inicialmente determinado (p<0,05), assim como os pacientes com oblíquo superior direito hiperfuncionantes (p<0,01). Os mesmos resultados são encontrados nos pacientes com hipofunção dos oblíquos e hiperfunção de oblíquo inferior direito (p<0,01). Conclusão: O método utilizado para medida das funções musculares nos estrabismos verticais é reprodutível, acessível, simples, confiável, e confere maior uniformidade à aferição.
RESUMO
ABSTRACT Purpose: To describe a new method for measuring anomalous head positions by using a cell phone. Methods: The photo rotation feature of the iPhone® PHOTOS application was used. With the patient seated on a chair, a horizontal stripe was fixed on the wall in the background and a sagittal stripe was fixed on the seat. Photographs were obtained in the following views: front view (photographs A and B; with the head tilted over one shoulder) and upper axial view (photographs C and D; viewing the forehead and nose) (A and C are without camera rotation, and B and D are with camera rotation). A blank sheet of paper with two straight lines making a 32-degree angle was also photographed. Thirty examiners were instructed to measure the rotation required to align the reference points with the orthogonal axes. In order to set benchmarks to be compared with the measurements obtained by the examiners, blue lines were digitally added to the front and upper view photographs. Results: In the photograph of the sheet of paper (p=0.380 and a=5%), the observed values did not differ statistically from the known value of 32 degrees. Mean measurements were as follows: front view photograph A, 22.8 ± 2.77; front view B, 21.4 ± 1.61; upper view C, 19.6 ± 2.36; and upper view D, 20.1 ± 2.33 degrees. The mean difference in measurements for the front view photograph A was -1.88 (95% CI -2.88 to -0.88), front view B was -0.37 (95% CI -0.97 to 0.17), upper view C was 1.43 (95% CI 0.55 to 2.24), and upper view D was 1.87 (95% CI 1.02 to 2.77). Conclusion: The method used in this study for measuring anomalous head position is reproducible, with maximum variations for AHPs of 2.88 degrees around the X-axis and 2.77 degrees around the Y-axis.
RESUMO Objetivo: Descrever novo método de medida da posição anômala da cabeça (PAC) usando celular. Métodos: Foi utilizado o recurso de rotação de fotografias do aplicativo fotos do iPhone®. Com paciente em uma cadeira, foram fixadas duas faixas, uma horizontal, na parede ao fundo e outra sagital sobre o assento. Fotografias: frontal (1 A e 1 B), com a cabeça inclinada sobre um ombro, e superior (1 C e 1 D), visualizando testa e nariz. Também fotografada uma folha sulfite com duas retas desenhadas formando um ângulo de 32º. Trinta examinadores foram orientados a mensurar a rotação necessária para alinhar os pontos de referência com os eixos ortogonais. Para estabelecer medidas de referência a serem comparadas com aquelas obtidas pelos examinadores, foram acrescentadas digitalmente linhas azuis nas fotos frontal e superior. Resultados: Na foto da folha de papel (p=0,380 e a=5%), os valores observados não diferem estatisticamente do valor conhecido de 32º. Média das medidas: foto frontal 1A, 22,8 ± 2,77, frontal 1B, 21,4 ± 1,61, superior 1C, 19,6 ± 2,36 e superior 1D, 20,1±2,33. A média das diferenças das medidas na foto frontal 1A foi de -1,88 (IC 95% -2,88 a -0,88), frontal 1B de -0,37 (IC 95% -0,97 a 0,17), superior 1C de 1,43 (IC 95% 0,55 a 2,24) e superior 1D foi 1,87 (IC 95% 1,02 a 2,77). Conclusões: O método utilizado neste estudo para medida da posição anômala da cabeça é reprodutível e apresenta variação máxima de 2,88º nas posições anômalas da cabeça ao redor do eixo X e 2,77º do Y.
Assuntos
Humanos , Postura/fisiologia , Software , Fotografação/normas , Smartphone , Cabeça/diagnóstico por imagem , Padrões de Referência , Valores de Referência , Rotação , Fatores de Tempo , Fotografação/métodos , Variações Dependentes do Observador , Reprodutibilidade dos TestesRESUMO
Objetivo: Avaliar a eficiência da triancinolona (TRI) como agentemodulador da resposta inflamatória e cicatricial em coelhos submetidosà cirurgia de estrabismo. Métodos: Foi realizado estudo prospectivo,mascarado, em dois estágios. No primeiro estágio dez coelhos foramsubmetidos a retrocesso do músculo reto superior em ambos os olhos,aplicando-se triancinolona (40 mg/ml) em um dos olhos e, comocontrole, solução salina nos olhos contralaterais. Quinze dias e trintadias depois, os animais foram exenterados e o material do sítio dereinserção muscular foi submetido à análise qualitativa e quantitativa.No segundo estágio, com incrementação da agressão cirúrgica,dezesseis coelhos foram submetidos aos mesmos procedimentos comexenteração e análise dos tecidos após quinze dias. Resultados: Houveefeito inibitório da TRI na resposta inflamatória dos olhos tratadosquando comparados aos olhos-controle. Conclusão: Nas condições de realização do presente estudo, o uso perioperatório da TRI foi efetivono controle da resposta inflamatória em olhos de coelhos submetidosà cirurgia de estrabismo.
Objective: To assess the efficacy of triamcinolone (TRI) as ahealing and inflammatory response modulating agent in rabbits,following strabismus surgery. Methods: A prospective, doubleblind,two-phase trial was done. In the first phase, ten rabbits suffered a recession of the superior rectus muscle of both eyes, with triamcinolone (40 mg/ml) being injected on one eye and, as control, saline solution on the contralateral eye. Fifteen and thirty days latter, the animals were exenterated and the material of the site of muscle reinsertion was submitted to qualitative and quantitative analyses.On the second phase, with an increment in surgical aggression, sixteen rabbits suffered the same procedure with exenteration and tissue analysis after fifteen days. Results: TRI inhibited inflammatory response in the treated eyes, as compared to control. Conclusion: Under the conditions of the present study, the perioperative useof TRI was effective in the control of the inflammatory response in the eyes of rabbits that underwent strabismus surgery.
Assuntos
Coelhos , Cicatriz , Estrabismo/cirurgia , Aderências Teciduais , TriancinolonaRESUMO
PURPOSE: To evaluate the efficiency of triamcinolone (TRI) in limiting the postoperative inflammatory response and scarring after strabismus surgery. METHODS: A prospective, two-stage, masked, controlled trial was conducted. In the first stage, the inflammatory response at the extraocular muscle reattachment site was analyzed after superior rectus recession in ten rabbits. In the second stage, TRI (40 mg/ml) was applied during surgery to the eyes of 16 rabbits with superior rectus recession. As a control, contralateral eyes were treated with physiological saline. Fifteen days later, exenteration was performed, and the sites of muscle reattachment were processed for histological examinations. The sums of the areas of the granulomas in the extraocular muscle reattachment sites of control and treated eyes were compared. RESULT: There was a preliminary inhibition effect of TRI on the inflammatory response of treated eyes compared with that of control eyes. CONCLUSIONS: In the conditions of conducting this study the introperative use of TRI was effective in controlling the postoperative inflammatory response in rabbit eyes after extraocular muscle surgery.
OBJETIVO: Avaliar a eficiência da triancinolona (TRI) como agente modulador da resposta inflamatória e cicatricial em coelhos submetidos à cirurgia de estrabismo. MÉTODOS: Foi realizado estudo prospectivo, mascarado, em dois estágios. No primeiro estágio 10 coelhos foram submetidos a retrocesso do músculo reto superior em ambos os olhos, aplicando-se triancinolona (40 mg/ml) em um dos olhos e como controle, solução salina nos olhos contralaterais. Quinze dias e trinta dias após, os animais foram exenterados e o material do sítio de reinserção muscular foi submetido à análise qualitativa e quantitativa. No segundo estágio, com incrementação da agressão cirúrgica, 16 coelhos foram submetidos aos mesmos procedimentos com exenteração e análise dos tecidos após 15 dias. RESULTADO: Houve efeito inibitório da TRI na resposta inflamatória dos olhos tratados quando comparados aos olhos-controle. CONCLUSÕES: Nas condições de realização do presente estudo o uso per-operatório da TRI foi efetivo no controle da resposta inflamatória em olhos de coelhos submetidos à cirurgia de estrabismo.
Assuntos
Animais , Coelhos , Glucocorticoides/efeitos adversos , Glucocorticoides/uso terapêutico , Estrabismo/tratamento farmacológico , Estrabismo/cirurgia , Triancinolona Acetonida/efeitos adversos , Triancinolona Acetonida/uso terapêutico , Modelos Animais de Doenças , Métodos Epidemiológicos , Fibrose/diagnóstico , Fibrose/etiologia , Fibrose/patologia , Glucocorticoides/administração & dosagem , Granuloma/diagnóstico , Granuloma/etiologia , Granuloma/patologia , Músculos Oculomotores/efeitos dos fármacos , Músculos Oculomotores/patologia , Músculos Oculomotores/cirurgia , Cloreto de Sódio/uso terapêutico , Coloração e Rotulagem/métodos , Estrabismo/patologia , Triancinolona Acetonida/administração & dosagem , CicatrizaçãoRESUMO
Objetivo: Avaliar a eficiência da Triancinolona Acetonida como agente modulador da resposta inflamatória e cicatricial em coelhos submetidos a cirurgia de músculo extra-ocular. Método: Foi realizado estudo prospectivo, mascarado, em dois estádios. No primeiro estádio, dez coelhos foram submetidos a retrocesso do músculo reto superior em ambos os olhos. Aplicouse, em um deles, 0,15 cc de Triancinolona Acetonida (40mg/cc) nos tecidos circunjacentes ao local de reinserção muscular e, como controle, 0,15cc de solução de cloreto de sódio a 0,9% no local equivalente no olho contra-lateral. Quinze dias após, cinco coelhos foram submetidos a exenteração das órbitas e os restantes dos animais tiveram o mesmo procedimento realizado após trinta dias. O material do sítio de reinserção muscular foi avaliado por meio de análise histopatológica qualitativa e quantitativa (morfometria). No segundo estádio, com incrementação da agressão cirúrgica, dezesseis coelhos foram submetidos aos mesmos procedimentos com exenteração das órbitas após quinze dias, e posterior análise histopatológica dos tecidos. Resultados: Houve efeito inibitório sobre a intensidade da resposta inflamatória nos olhos tratados em comparação com os olhos controle. Conclusão: Nas condições de realização do presente estudo o uso per-operatório da triancinolona acetonida foi efetivo no controle da resposta inflamatória em olhos de coelhos submetidos a cirurgia de músculo extra-ocular.
Purpose: To evaluate the efficiency of triamcinolone acetonide (TRI) in limiting the postoperative inflammatory response and scarring following strabismus surgery. Methods: A prospective, two-stage, masked, controlled trial was conducted. In the first stage, the inflammatory response at the extraocular reattachment site was analyzed following superior rectus recession in ten rabbits. One eye had 0,15 cc of triamcinolone acetonide (40mg/cc) applied around the new insertion site and, similarly, 0,15 cc of isotonic saline solution (0,9%) was applied to the fellow eye following the same procedure, thus serving as a control. Fifteen days later, orbital exenteration was performed in five rabbits and the remaining five were exenterated thirty days later. The reattachment site tissues were submitted to qualitative and quantitative histological examinations. In the second stage 16 rabbits were submitted to amplified surgical trauma, after which the aforementioned steps were also carried out. Granuloma total area at the extraocular muscle reattachment sites of control and treated eyes were compared. Results: There was an inhibitory effect of TRI on the inflammatory response of treated eyes as compared to control eyes. Conclusions: TRI was effective in controlling the postoperative inflammatory response in rabbit eyes submitted to traumatic recession of the superior rectus muscle.