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Background: Ring 14 syndrome is a rare chromosomal disorder characterized by a ring-shaped appearance of chromosome 14. Classically findings include distinct facial characteristics, refract...

Retinal damage has been associated with increased injection pressure during subretinal gene therapy delivery in various animal models, yet there are no human clinical data regarding the pressures required to initiate and propagate subretinal blebs. This study characterized the intraoperative pressure levels for subretinal gene therapy delivery across eight retinal conditions. A total of 116 patients with retinal degenerative diseases have been treated with subretinal gene therapy at OHSU-Casey Eye Institute as of June 2020; seventy patients (60.3%) were treated using a pneumatic-assisted subretinal delivery system. All retinal blebs were performed using a 41-gauge injection cannula, and use of a balanced salt solution (BSS) "pre-bleb" prior to gene therapy delivery was performed at the discretion of the surgeon. Patient age and intraoperative data for BSS and vector injections were analyzed in a masked fashion for all patients who received pneumatic-assisted subretinal gene therapy. The median age of the patients was 35 years (range 4-70). No significant differences in injection pressures were found across the eight retinal conditions. In this study, patient age was shown to affect maximum injection pressures required for bleb propagation, and the relationship between age and pressure varied based on retinal condition. These data have important implications in optimizing surgical protocols for subretinal injections.

Purpose To report the case of a ten-year old girl with torpedo maculopathy with a complete vitelliform lesion and describe associated optical coherence tomography (OCT), OCT angiography (OCTA), multifocal electroretinogram (ERG) and adaptive optics ophthalmoscopy (AOO) imaging of the lesion. Observations An asymptomatic ten-year old girl with visual acuity of 20/15 OU was referred for evaluation of possible Best's disease of her left eye. The unilaterality, location, and shape of the lesion was consistent with torpedo maculopathy. OCT and autofluorescence (AF) revealed that the entire lesion was composed of subretinal hyperreflective material that was hyperautofluorescent, consistent with vitelliform material. Within the boundary of the lesion, OCTA showed reduced choriocapillaris density while adjacent to the lesion, the choriocapillaris density was slightly increased. Microperimetry demonstrated normal sensitivity in both eyes, electrooculograms (EOG) were normal and multifocal ERG showed symmetrical mildly supernormal amplitudes. Additionally, AOO demonstrated that nasal to the lesion there were clusters of hyper-reflective areas, and immediately adjacent to the lesion cones were poorly resolved. However, there was a return to more normal photoreceptor architecture outside of the lesion. Conclusions and Importance Torpedo maculopathy lesions typically present with outer retinal attenuation and retinal pigmented epithelium (RPE) atrophy. Vitelliform material was recently observed for the first time in association with Torpedo maculopathy in a case report that described small vitelliform material at the periphery of the lesion. We report the second case of torpedo maculopathy associated with a vitelliform lesion and the first description of a torpedo lesion composed fully of presumed vitelliform material. We also describe findings of OCTA, multifocal ERG and AOO imaging in torpedo maculopathy with vitelliform lesion.

Purpose: To report the case of an adolescent male with a history of Best macular dystrophy and retinal astrocytic hamartoma. Observations: A 15 year old male with a history of Best macular dystrophy who had been followed by ophthalmology for 9 years was noted to have progressive enlargement of a superonasal peripapillary retinal lesion. Imaging and exam are consistent with a diagnosis of retinal astrocytic hamartoma. There were no extraocular signs or symptoms that were diagnostic of a phakamatosis. Genetic testing was positive for a mutation in BEST1, but not TSC1 or TSC2. Conclusions and Importance: Retinal astrocytic hamartoma is an unusual association with Best macular dystrophy, and this case highlights the balanced approach needed to navigate a potentially complex work-up. Keywords: Retinal astrocytoma, Best macular dystrophy

FUNDAMENTO: Estudos epidemiológicos têm mostrado um aumento da prevalência da hipertensão arterial na faixa etária pediátrica. Hoje se sabe que os fatores de risco poderiam ter sido detectados na infância, o que auxiliaria na prevenção da doença. OBJETIVO: Avaliar fatores de risco e de proteção relacionados à elevação da pressão arterial na infância. MÉTODOS: Foram avaliadas crianças de 3 a 10 anos moradoras dos distritos sanitários leste e sudoeste de Goiânia, Goiás. Obtiveram-se os seguintes dados: peso ao nascer, aleitamento materno, história familiar de hipertensão e obesidade, peso, estatura, índice de massa corporal (IMC) e pressão arterial. Utilizaram-se os testes de U de Mann-Whitney para comparar a variação da pressão arterial quanto às variáveis descritas. RESULTADOS: Na amostra estudada, 519 crianças foram avaliadas, 246 (47,4%) do sexo masculino. Avaliação do IMC identificou 109 (21%) com excesso de peso, das quais 53 (10,3%) eram obesas. O aleitamento materno predominante e/ou exclusivo por tempo inferior a 6 meses foi encontrado em 242 (51,2%). As médias da pressão sistólica se encontraram significativamente mais elevadas naquelas crianças com aleitamento materno exclusivo e/ou predominante por tempo inferior a 6 meses (p = 0,04), história familiar positiva para hipertensão (p = 0,05) e excesso de peso (p < 0,0001). Esses dados foram confirmados na análise multivariada. CONCLUSÃO: Na amostra estudada, excesso de peso e fatores hereditários podem estar associados à elevação da pressão arterial, e o tempo em aleitamento materno superior a 6 meses parece conferir um efeito protetor. BACKGROUND: Epidemiological studies have shown an increased prevalence of high blood pressure in pediatric patients. Today we know that risk factors can be detected during childhood and may help in preventing the disease. OBJECTIVE: To evaluate risk and protection factors related to high blood pressure in childhood. METHODS: We evaluated children aged 3 to10 years, residing in the east and southwest sanitary districts of the City of Goiânia, Goiás, and obtained the following data: birth weight, breastfeeding, family history of high blood pressure and obesity, weight, height, body mass index (BMI), and blood pressure. We applied the Mann-Whitney U-test to these variables in order to compare pressure variation. RESULTS: In this sample, 519 children were evaluated, and 246 (47.4%) of them were male. The BMI assessment identified 109 (21%) overweight children, of which 53 (10.3%) were obese. Predominant and/or exclusive breastfeeding for less than 6 months was found in 242 (51.2%). The mean systolic pressure was significantly higher in children with exclusive and/or predominant breastfeeding for less than 6 months (p = 0.04), and in children with family history of high blood pressure (p = 0.05), and in overweight children (p

OBJETIVO: Descrever e analisar sintomas respiratórios e alterações espirométricas em pacientes portadores de doença pulmonar obstrutiva crônica (DPOC), com história de exposição à fumaça de lenha e de tabaco. MÉTODOS: Foram avaliados retrospectivamente dados de 170 pacientes distribuídos em 3 grupos: 34 pacientes expostos somente à fumaça de lenha, 59 pacientes, somente à de tabaco e 77 pacientes expostos a ambas. RESULTADOS: Os grupos não diferiram quanto a idade (p = 0,225) e grau de exposição, considerando cada tipo de exposição isoladamente ou em associação (p = 0,164 e p = 0,220, respectivamente). No grupo exposto à fumaça de lenha predominou o sexo feminino.Não houve diferença entre os grupos quanto à freqüência dos sintomas respiratórios (p > 0,05), e houve predominância de grau moderado de dispnéia nos três grupos (p = 0,141). O grupo exposto à fumaça de lenha apresentou melhores percentuais da relação volume expiratório forçado no primeiro segundo/capacidade vital forçada e de volume expiratório forçado no primeiro segundo (p < 0,05). A prova broncodilatadora positiva ocorreu com maior freqüência no grupo exposto ao tabaco.O percentual de obstrução brônquica grave e muito grave foi significantemente maior no grupo exposto ao tabaco (44,1%) que no grupo exposto somente à fumaça de combustão de lenha (11,8%; p = 0,006). CONCLUSÕES: Os sintomas respiratórios e alterações da função pulmonar compatíveis com DPOC foram observados nos grupos expostos à fumaça de lenha. Todavia, estas alterações foram menos intensas do que as observadas nos grupos expostos ao tabaco.Este trabalho ressalta a importância de realizar-se um estudo prospectivo para avaliar o risco de DPOC associado à exposição à fumaça de lenha no Brasil assim como a necessidade de ações preventivas neste âmbito. OBJECTIVE: To describe and analyze clinical symptoms and spirometric alterations of patients with chronic obstructive pulmonary disease (COPD) and history of exposure to wood and tobacco smoke. METHODS: We retrospectively evaluated data related to 170 patients distributed into 3 groups: 34 exposed only to wood smoke, 59 patients exposed only to tobacco smoke and 77 patients exposed to both. RESULTS: The groups did not differ significantly in terms of age (p = 0.225) or degree of exposure, considering each type of exposure in isolation or in combination (p = 0.164 and p = 0.220, respectively). Females predominated in the group exposed to wood smoke. There were no differences among the groups regarding respiratory symptoms (p > 0.05), and moderate dyspnea predominated in the three groups (p = 0.141). The group exposed to wood smoke presented higher percentages of forced expiratory volume in one second/forced vital capacity ratio and of forced expiratory volume in one second (p < 0.05). Positive results on bronchodilator testing occurred more frequently in the group exposed to tobacco smoke. The percentage of severe and extremely severe obstruction was significantly higher in the group exposed to tobacco smoke (44.1%) than in that exposed to wood smoke (11.8%; p = 0.006). CONCLUSIONS: Respiratory symptoms and pulmonary function alterations consistent with COPD were observed in the groups of patients exposed to wood smoke. However, those alterations were not as significant as the alterations observed in the groups exposed to tobacco smoke. This study emphasizes the importance of prospective studies in evaluating the risk of wood-smoke-related COPD in Brazil, as well as the need for preventive measures in this area.

Carcinoma basoescamoso é um tumor raro com características de tumor de células basais e escamosas interligados por uma área de transição. Tem sido descrito como um tumor agressivo com possibilidade de metástases à distância, o que difere substancialmente do carcinoma basocelular. Propomos neste relato a descrição de um caso de evolução crônica e das consequências do abandono do tratamento por causa do prognóstico reservado deste tipo de tumor de comportamento agressivo.Basosquamous carcinoma is a rare tumor with features of both basal cell and squamous cell carcinoma, linked by a transition area. It is a rare epithelial neoplasm with a tendency for local recurrence. It also has a high incidence of distant metastasis, a condition that differentiates it from the basal cell carcinoma. In this case, the slow course of the infiltrative lesion associated to patient non-compliance to treatment led to a poor prognosis.

To describe and analyze clinical symptoms and spirometric alterations of patients with chronic obstructive pulmonary disease (COPD) and history of exposure to wood and tobacco smoke.We retrospectively evaluated data related to 170 patients distributed into 3 groups: 34 exposed only to wood smoke, 59 patients exposed only to tobacco smoke and 77 patients exposed to both.The groups did not differ significantly in terms of age (p = 0.225) or degree of exposure, considering each type of exposure in isolation or in combination (p = 0.164 and p = 0.220, respectively). Females predominated in the group exposed to wood smoke. There were no differences among the groups regarding respiratory symptoms (p0.05), and moderate dyspnea predominated in the three groups (p = 0.141). The group exposed to wood smoke presented higher percentages of forced expiratory volume in one second/forced vital capacity ratio and of forced expiratory volume in one second (p0.05). Positive results on bronchodilator testing occurred more frequently in the group exposed to tobacco smoke. The percentage of severe and extremely severe obstruction was significantly higher in the group exposed to tobacco smoke (44.1%) than in that exposed to wood smoke (11.8%; p = 0.006).Respiratory symptoms and pulmonary function alterations consistent with COPD were observed in the groups of patients exposed to wood smoke. However, those alterations were not as significant as the alterations observed in the groups exposed to tobacco smoke. This study emphasizes the importance of prospective studies in evaluating the risk of wood-smoke-related COPD in Brazil, as well as the need for preventive measures in this area.

Basosquamous carcinoma is a rare tumor with features of both basal cell and squamous cell carcinoma, linked by a transition area. It is a rare epithelial neoplasm with a tendency for local recurrence. It also has a high incidence of distant metastasis, a condition that differentiates it from the basal cell carcinoma. In this case, the slow course of the infiltrative lesion associated to patient non-compliance to treatment led to a poor prognosis.

A sarcoidose representa uma doença inflamatória cuja etiologia permanece desconhecida. Acomete principalmente o interstício pulmonar, com formação de granulomas não caseosos e adenomegalia. Trata-se de enfermidade sistêmica, portanto, pode atingir qualquer órgão ou sistema, devendo ser lembrada no diagnóstico diferencial das doenças infecciosas, neoplásicas ou auto-imunes, isto porque, se diagnosticada corretamente, evita medicações ou cirurgias desnecessárias. Os autores relatam um caso de sarcoidose pulmonar com envolvimento hepático, no qual o paciente desenvolveu cirrose e trombose de veia porta. Sarcoidosis is an inflammatory disease whose etiology remains unknown. It is characterized by the formation of non-caseating granulomas and adenopathy, mainly in the pulmonary interstice. This is a systemic disease that may affect any organ or system and should be included in the differential diagnosis of infectious, neoplastic or autoimmune diseases as a correct diagnosis avoids unnecessary surgeries or administration of drugs. The authors report a case of pulmonary sarcoidosis with hepatic involvement in which the patient has developed cirrhosis and portal vein thrombosis.

A sarcoidose representa uma doença inflamatória cuja etiologia permanece desconhecida. Acomete principalmente o interstício pulmonar, com formação de granulomas não caseosos e adenomegalia. Trata-se de enfermidade sistêmica, portanto, pode atingir qualquer órgão ou sistema, devendo ser lembrada no diagnóstico diferencial das doenças infecciosas, neoplásicas ou auto-imunes, isto porque, se diagnosticada corretamente, evita medicações ou cirurgias desnecessárias. Os autores relatam um caso de sarcoidose pulmonar com envolvimento hepático, no qual o paciente desenvolveu cirrose e trombose de veia porta.Sarcoidosis is an inflammatory disease whose etiology remains unknown. It is characterized by the formation of non-caseating granulomas and adenopathy, mainly in the pulmonary interstice. This is a systemic disease that may affect any organ or system and should be included in the differential diagnosis of infectious, neoplastic or autoimmune diseases as a correct diagnosis avoids unnecessary surgeries or administration of drugs. The authors report a case of pulmonary sarcoidosis with hepatic involvement in which the patient has developed cirrhosis and portal vein thrombosis.