Large inferior retinectomies for proliferative vitreoretinopathy in silicone oil-filled eyes.

BACKGROUND: To describe the anatomical and functional outcomes and late complications in patients who developed inferior proliferative vitreoretinopathy (PVR) in silicone oil-filled eyes and who required reoperation with large inferior retinectomy. METHODS: This is a single-center, retrospective, interventional case series analysis. The study involved 18 individuals with tractional retinal re-detachment due to PVR development inferiorly in eyes who had undergone prior pars plana vitrectomy and silicone oil as a tamponade. All patients included in the study underwent secondary surgery with large inferior retinectomy (from 120° to 270°) and silicone oil filling. RESULTS: The mean follow-up period was 44.0 ± 31.5 (± SD) months (range: 4 to 96 months. The anatomical success, defined as the complete reattachment of the retina until the last follow-up, was observed in 88.9% of the cases. The postoperative visual acuity ranged from 20/100 to hand motion at 60 cm. Only two cases (11.1%) did not achieve anatomical success at the last follow-up due to recurrent PVR and retinal re-detachment (one including hypotony). All of the patients were pseudophakic. The PVR grade, as well as the presence of PVR prior to primary surgery, showed no statistical correlation with BCVA, the extent of retinectomies, and final macular status. There was a statistically significant correlation between "Final BCVA" and "Initial BCVA" (r = 0.654) and between "Final BCVA" and "Extent of Retinectomy" (r = 0.615). CONCLUSIONS: Reoperation in eyes filled with silicone oil may be required when PVR is developed. Secondary surgery in these cases with large inferior retinectomy and silicone oil implantation may reach good anatomical success with low rates of late complications, besides improving visual acuity. A better BCVA at the time of re-RD diagnosis and cases of retinectomies with greater extensions showed a positive correlation with better functional outcomes. Trial registration Research Ethics Committee of the Suel Abujamra Institute reviewed and approved this study protocol (approval number, 5.404.961).

A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1.

BACKGROUND: X-linked retinoschisis (XLRS) is a rare retinal dystrophy due to pathogenic variants in the RS1 gene. The hallmark of the disease is a foveal spoke-wheel appearance. The purpose of this report is to expand the phenotypic spectrum of XLRS reporting a patient with atypical phenotype of XLRS associated with Coats-like phenotype. MATERIALS AND METHODS: This is a case report of a patient diagnosed with XLRS who underwent ophthalmologic multimodal imaging and next-generation sequencing panel. RESULTS: The proband is a 14-year-old male patient who presented at Instituto Suel Abujamra with a history of Coats Disease in the right eye treated with retinal laser in both eyes two years ago. His best-corrected visual acuity was count finger at 1 foot in the right eye and 20/40 in the left eye. Fundus exam showed an extensive area of exudation and retinal detachment in the right eye and cystic change at the fovea in a spoke-wheel pattern in the left eye. The next-generation sequencing panel targeting inherited retinal diseases with 236 genes found a pathogenic hemizygous variant c.304C>T (p.Arg102Trp) in RS1 that has already been reported. CONCLUSIONS: The association of peripheral vascular incompetence and XLRS has already been described. Retinal exudation in the setting of XLRS is probably the result of vascular disruption and compromise. The loss of retinoschisin function that leads to foveal retinoschisis may also lead to vascular anomalies.

Complete Androgen Insensitivity Syndrome and Literature Review / Síndrome da insensibilidade androgênica completa e revisão de literatura

BACKGROUNG: Complete Androgen Insensitivity Syndrome (CAIS) has been reported since 1923, but in 1953 it became known as "testicular feminization". It is a rare recessive genetic disorder linked to the X chromosome that results in different mutations in the androgen receptor. The main clinical presentation in childhood is the presence of bilateral inguinal hernia in phenotypically female subjects. Incidence of androgen insensitivity syndrome in phenotypically females with inguinal hernia is estimated in 0.8% to 2.4%. This is a case report of complete androgen insensitivity syndrome and literature review of preoperative diagnostic methods. CASE SUMMARY: We present a 3 years and 6 months old child with female phenotype, born in São Paulo, Brazil which was diagnosed intraoperatively with complete androgen insensitivity syndrome, during inguinal hernia repair and present potential diagnostic alternatives that we consider viable options in order to avoid this kind of surprise during surgery. CONCLUSION: Investigation of CAIS should be standard in pre-pubertal girls with bilateral inguinal hernia, genetic techniques involving X chromatin or Y chromosome tests present the best choices.

INTRODUÇÃO: A síndrome da insensibilidade androgênica completa (SIAC) é relatada desde 1923, mas foi em 1953 que ficou conhecida como "feminilização testicular". É uma doença genética recessiva rara, ligada ao cromossomo X, causando diversas mutações no receptor de androgênio. A principal apresentação clínica na infância é a presença de hérnia inguinal bilateral em indivíduos fenotipicamente femininos com uma incidência estimada de 0,8% a 2,4%. Apresentamos um caso de insensibilidade androgênica completa, com revisão de literatura dos métodos diagnósticos pré operatórios. Relato do Caso: Apresentamos uma criança de 3 anos e 6 meses de idade com fenótipo feminino, nascida em São Paulo, Brasil diagnosticada com síndrome da insensibilidade androgênica completa, durante a cirurgia de herniorrafia inguinal bilateral e apresentamos potenciais alternativas diagnósticas a fim de evitar esse tipo de surpresa durante a cirurgia. CONCLUSÃO: Em meninas pré-puberes, portadoras de hérnia inguinal bilateral, a pesquisa de SIAC se faz necessária, técnicas genéticas que utilizam a pesquisa da cromatina X ou do cromossomo Y seriam as melhores escolhas.

Evolution of incidence, mortality and cost of nontraumatic abdominal emergencies treated in Brasil in a period of nine years.

OBJECTIVE: To evaluate the incidence, mortality and cost of non-traumatic abdominal emergencies treated in Brazilian emergency departments. METHODS: This paper used DataSus information from 2008 to 2016 (http://www.tabnet.datasus.gov.br). The number of hospitalizations, costs - AIH length of stay and mortality rates were described in acute appendicitis, acute cholecystitis, acute pancreatitis, acute diverticulitis, gastric and duodenal ulcer, and inflammatory intestinal disease. RESULTS: The disease that had the highest growth in hospitalization was diverticular bowel disease with an increase of 68.2%. For the period of nine years, there were no significant changes in the average length of hospital stay, with the highest increase in gastric and duodenal ulcer with a growth of 15.9%. The mortality rate of gastric and duodenal ulcer disease increased by 95.63%, which is significantly high when compared to the other diseases. All had their costs increased but the one that proportionally had the highest increase in the last nine years was the duodenal and gastric ulcer, with an increase of 85.4%. CONCLUSION: Non-traumatic abdominal emergencies are extremely prevalent. Hence, the importance of having updated and comparative data on the mortality rate, number of hospitalization and cost generated by these diseases to provide better healthcare services in public hospitals.

Evolution of incidence, mortality and cost of nontraumatic abdominal emergencies treated in Brasil in a period of nine years

SUMMARY OBJECTIVE: To evaluate the incidence, mortality and cost of non-traumatic abdominal emergencies treated in Brazilian emergency departments. METHODS: This paper used DataSus information from 2008 to 2016 (http://www.tabnet.datasus.gov.br). The number of hospitalizations, costs - AIH length of stay and mortality rates were described in acute appendicitis, acute cholecystitis, acute pancreatitis, acute diverticulitis, gastric and duodenal ulcer, and inflammatory intestinal disease. RESULTS: The disease that had the highest growth in hospitalization was diverticular bowel disease with an increase of 68.2%. For the period of nine years, there were no significant changes in the average length of hospital stay, with the highest increase in gastric and duodenal ulcer with a growth of 15.9%. The mortality rate of gastric and duodenal ulcer disease increased by 95.63%, which is significantly high when compared to the other diseases. All had their costs increased but the one that proportionally had the highest increase in the last nine years was the duodenal and gastric ulcer, with an increase of 85.4%. CONCLUSION: Non-traumatic abdominal emergencies are extremely prevalent. Hence, the importance of having updated and comparative data on the mortality rate, number of hospitalization and cost generated by these diseases to provide better healthcare services in public hospitals.

RESUMO OBJETIVO: Avaliar a evolução da Incidência, mortalidade e custo das urgências abdominais não traumáticas atendidas nos serviços de emergência do Brasil durante o período de nove anos. MÉTODOS: Este trabalho utilizou informações do DataSus de 2008 a 2016, (http://www.tabnet.datasus.gov.br). Foram analisados número de internações, valor médio das internações (AIH), valor total das internações, dias de permanência hospitalar e taxa de mortalidade das seguintes doenças: apendicite aguda, colecistite aguda, pancreatite aguda, diverticulite aguda, úlcera gástrica e duodenal, e doença inflamatória intestinal. RESULTADOS: A doença que teve o maior crescimento do número de internações foi a doença diverticular do intestino, com o valor de 68,2%. Ao longo dos nove anos não houve grandes variações da média de permanência hospitalar, sendo que o maior aumento foi o da úlcera gástrica e duodenal, com crescimento de 15,9%. A taxa de mortalidade da doença por úlcera gástrica e duodenal teve um aumento de 95,63%, consideravelmente significante quando comparada com as outras doenças. Todas tiveram seus valores de AIH aumentados, porém, a que proporcionalmente teve o maior aumento nos últimos nove anos foi a úlcera gástrica e duodenal, com um acréscimo de 85,4%. CONCLUSÃO: As urgências abdominais de origem não traumática são de extrema prevalência, por isso a importância em ter dados atualizados e comparativos sobre a taxa de mortalidade, o número de internações e os custos gerados por essas doenças, para melhor planejamento dos serviços públicos de saúde.