This study describes the clinical features of a pedigree with a novel retinitis pigmentosa GTPase regulator gene mutation in whom one hemizygous man has a typical manifesting phenotype and three heterozygous women demonstrate a typical carrier phenotype. A fourth heterozygous woman is described with a strikingly severe retinal phenotype and also harbors an independent disease-causing mutation in the
OTX2
gene and an associated systemic phenotype. This study hypothesizes that the
OTX2
mutation in combination with the familial retinitis pigmentosa GTPase regulator gene variant results in a more severe ocular phenotype than is seen in the other heterozygous women in this pedigree due to a loss of
OTX2
-mediated photoreceptor protection.
[
Ophthalmic Surg Lasers Imaging Retina
. 2022;53(4):216–220.]
Coronavirus disease 2019 (COVID-19) was declared a pandemic by the World Health Organization (WHO) in March 2020. It was caused by the highly pathogenic SARS-Cov-2 virus. Although the majority of its clinical manifestations are associated with airway involvement, extrapulmonary damage does occur in some situations. In light of the above discussion, this study of the literature tries to identify the ophthalmological disorders produced by infection with the new coronavirus. Although ocular symptoms do not correspond to the disease's standard clinical presentation, there are reports of some ophthalmological alterations in COVID-19 individuals, the most prevalent of which is conjunctivitis.
<b><i>Introduction:</i></b> We aimed to assess the validity and reproducibility of a wearable hydration device in a cohort of maintenance dialysis patients. <b><i>Methods:</i></b> We conducted a prospective, single-arm observational study on 20 haemodialysis patients between January and June 2021 in a single centre. A prototype wearable infrared spectroscopy device, termed the Sixty device, was worn on the forearm during dialysis sessions and nocturnally. Bioimpedance measurements were performed 4 times using the body composition monitor (BCM) over 3 weeks. Measurements from the Sixty device were compared with the BCM overhydration index (litres) pre- and post-dialysis and with standard haemodialysis parameters. <b><i>Results:</i></b> 12 out of 20 patients had useable data. Mean age was 52 ± 12.4 years. The overall accuracy for predicting pre-dialysis categories of fluid status using Sixty device was 0.55 [K = 0.00; 95% CI: −0.39–0.42]. The accuracy for the prediction of post-dialysis categories of volume status was low [accuracy = 0.34, K = 0.08; 95% CI: −0.13–0.3]. Sixty outputs at the start and end of dialysis were weakly correlated with pre- and post-dialysis weights (<i>r</i> = 0.27 and <i>r</i> = 0.27, respectively), as well as weight loss during dialysis (<i>r</i> = 0.31), but not ultrafiltration volume (<i>r</i> = 0.12). There was no difference between the change in Sixty readings overnight and the change in Sixty readings during dialysis (mean difference 0.09 ± 1.5 kg), [<i>t</i>(39) = 0.38, <i>p</i> = 0.71]. <b><i>Conclusion:</i></b> A prototype wearable infrared spectroscopy device was unable to accurately assess changes in fluid status during or between dialysis sessions. In the future, hardware development and advances in photonics may enable the tracking of interdialytic fluid status.
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