RESUMO
Background@#To investigate the clinical findings of choroideremia patients and perform genetic analysis by whole-exome sequencing (WES). @*Methods@#A total of 94 patients initially diagnosed with retinitis pigmentosa (RP) at another hospital, and who visited our hospital for genetic analysis by WES, were included in the study, along with 64 family members. All subjects underwent comprehensive ophthalmic evaluation, including best-corrected visual acuity, slit lamp examination, fundus photography, fundus autofluorescence (FAF), fluorescein angiography (FAG), visual field (VF), electroretinogram (ERG), and optical coherence tomography (OCT). @*Results@#In six male patients with suspected choroideremia, extensive retinal pigment epithelium (RPE) and severe loss of choroid were observed in the fundus, but not in the macula. CHM gene mutation was confirmed in five patients. A novel single nucleotide variant at a splice site was observed in one patient. OCT showed marked thinning of the outernuclear layer and choroid, except in the macula. FAF showed a small area of hyperfluorescence in the posterior pole. In addition, characteristic interlaminar bridges were observed in four patients. On FAG, hypofluorescence was seen up to the far-peripheral retina in five patients. @*Conclusion@#Of the 94 patients initially diagnosed with RP, CHM mutation was identified in five (5.3%) by WES. Choroideremia should be considered as a differential diagnosis of RP.WES would be useful for identifying the causes of hereditary retinal disease.
RESUMO
PURPOSE: The purpose of this study was to estimate the effects of a video low intensity exercise program provided during hemodialysis on fatigue, activity of daily living, positive psychological capital and blood pressure of patients being treated. METHODS: A non-equivalent control group pre-post test design was used. Participants were 85 hemodialysis patients assigned to either the experimental group (n=41) or the control group (n=44). The experimental group exercised for about 25 minutes 3 times a week for 8 weeks. Data analyses involved descriptive statistics, χ2 test, t-test, multiple regression and repeated measure ANOVA using SPSS/WIN 23.0. RESULTS: The exercise intervention significantly reduced post hemodialysis fatigue and significantly increased positive psychological capital. There was a significant interaction effect on time by group in blood pressure. Systolic blood pressure changes in the experimental group were stable but, changes in the control group tended to increase gradually. CONCLUSION: To reduce fatigue and increase positive psychological capital for hemodialysis patients, providing exercise during hemodialysis is recommended. Furthermore individualized exercise in terms of intensity, time, duration, etc should be developed and tested. Also, to reduce drastic blood pressure changes during hemodialysis, exercise should be provided.
Assuntos
Humanos , Pressão Sanguínea , Estudos de Avaliação como Assunto , Fadiga , Diálise Renal , Estatística como AssuntoRESUMO
Epidermal inclusion cysts, the most common type of simple epithelial cyst, are typically well-encapsulated, subepidermal and mobile nodules. They may occur anywhere, but are mostly found on the scalp, face, neck, trunk, and back. Less than 10% of epidermal inclusion cysts occur on the extremities, and even fewer are found on the palms, soles, and breasts. If epidermal inclusion cysts rupture, foreign body reaction, granulomatous reaction or abscess formation could follow. We described here the sonographic findings of ruptured epidermal inclusion cyst of the right axilla in a 33-year-old woman who presented with a palpable axillary mass forming an inflammatory abscess. Address for reprints : Hak Hee Kim, M.D., Department of Radiology, Asan Medial Center, University of Ulsan, College of Medicine 388-1 Pungnap-2dong, Songpa-gu, Seoul 138-736, Korea.