Background Ocular toxoplasmosis (OT) is the most common cause of posterior uveitis, leading to visual impairment in a high proportion of patients. Antibiotics and corticosteroids lower the risk of permanent visual impairment by reducing the size of the retinochoroidal scar, the risk of recurrence, and the severity and duration of acute symptoms. Although OT is a very common cause of infectious posterior uveitis, its treatment remains controversial. Through our systematic review and meta-analysis, we aim to provide the best possible evidence-based information on the safety and effectiveness of the different antibiotic regimes for OT. Methods This systematic review protocol has been developed based on PRISMA-P guidelines for reporting systematic reviews evaluating health care interventions. We will include all published and unpublished randomized controlled trials (RCTs) comparing different antibiotics used for the treatment of OT. We will consider changes in visual acuity, number of recurrences, improvement or worsening of ocular inflammation, size of lesion, and adverse effects as our outcomes. Screening, data extraction, and quality assessment will be undertaken by two reviewers with disagreements resolved through discussion. Studies that compared antibiotics with placebo will be excluded. The reviews will be assessed for quality and relevance. We will assess the risk of bias in five domains according to Cochrane group’s tool. The type of data will dictate measures of treatment effect. We will use a random-effects model to calculate our meta-analysis, as eligible studies represent clinically varied populations of participants. Discussion The strength of our study will lie in the exhaustive and systematic nature of the literature search, as well as in its methods for assessing quality and analyzing RCT data. Considering the controversial efficacy of the treatment for OT, our study will contribute to improving the existing evidence on the effectiveness of different antibiotics. Future studies may be conducted to increase physicians’ awareness of antibiotic therapies, improving the health of patients with OT. Systematic review registration PROSPERO CRD42018085468. Electronic supplementary material The online version of this article (10.1186/s13643-019-1067-8) contains supplementary material, which is available to authorized users.
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis. TGM1 mutations cause > 50% of ARCI cases in the USA. We report two siblings with ARCI. They were found to carry a novel aetiological TGM1 mutation, which leads to the synthesis of multiple abnormal transcripts. These molecules resulted from three independent mechanisms: intron retention, exon skipping and activation of expand cryptic splice sites. Taken together, our findings expand the known TGM1 mutation repertoire, and provide an insight into the molecular mechanisms leading to ARCI phenotypes. These results could be useful for genetic counselling and future potential genotype-phenotype correlations.
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