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BMC Ophthalmology Apr 2024The goal of the study was to search for novel bi-allelic CRB1 mutations, and then to analyze the CRB1 literature at the genotypic and phenotypic levels. (Meta-Analysis)
Meta-Analysis
PURPOSE
The goal of the study was to search for novel bi-allelic CRB1 mutations, and then to analyze the CRB1 literature at the genotypic and phenotypic levels.
APPROACH
We screened various variables such as the CRB1 mutation types, domains, exons, and genotypes and their relation with specific ocular phenotypes. An emphasis was given to the bi-allelic missense and nonsense mutations because of their high prevalence compared to other mutation types. Finally, we quantified the effect of various non-modifiable factors over the best-corrected visual acuity oculus uterque (BCVA OU) using multivariate linear regression models and identified genetic interactions.
RESULTS
A novel bi-allelic missense in the exon 9 of CRB1; c.2936G > A; p.(Gly979Asp) was found to be associated with rod-cone dystrophy (RCD). CRB1 mutation type, exons, domains, and genotype distribution varied significantly according to fundus characteristics, such as peripheral pigmentation and condition, optic disc, vessels, macular condition, and pigmentation (P < 0.05). Of the 154 articles retrieved from PubMed, 96 studies with 439 bi-allelic CRB1 patients were included. Missense mutations were significantly associated with an absence of macular pigments, pale optic disc, and periphery pigmentation, resulting in a higher risk of RCD (P < 0.05). In contrast, homozygous nonsense mutations were associated with macular pigments, periphery pigments, and a high risk of LCA (P < 0.05) and increased BCVA OU levels. We found that age, mutation types, and inherited retinal diseases were critical determinants of BCVA OU as they significantly increased it by 33% 26%, and 38%, respectively (P < 0.05). Loss of function alleles additively increased the risk of LCA, with nonsense having a more profound effect than indels. Finally, our analysis showed that p.(Cys948Tyr) and p.(Lys801Ter) and p.(Lys801Ter); p.(Cys896Ter) might interact to modify BCVA OU levels.
CONCLUSION
This meta-analysis updated the literature and identified genotype-phenotype associations in bi-allelic CRB1 patients.
Topics: Humans; Alleles; Codon, Nonsense; Nerve Tissue Proteins; Genetic Association Studies; Retina; Phenotype; Mutation; Eye Proteins; Pedigree; DNA Mutational Analysis; Membrane Proteins
PubMed: 38622537
DOI: 10.1186/s12886-024-03419-4 -
Clinical, Cosmetic and Investigational... 2024Lichen planopilaris (LPP) and discoid lupus erythematosus (DLE) are primary scarring alopecias that pose diagnostic challenges clinically, where trichoscopy features may... (Review)
Review
INTRODUCTION
Lichen planopilaris (LPP) and discoid lupus erythematosus (DLE) are primary scarring alopecias that pose diagnostic challenges clinically, where trichoscopy features may provide benefit in delineating these two cicatricial alopecia, and also helps in assessing the evolution and therapeutic response. To date, there are few reviews on dermoscopic findings in differentiating these two alopecias.
METHODS
A systematic literature review was conducted using the PubMed and Google Scholar databases. The search terms included for scalp DLE were 'lupus' OR 'discoid lupus' OR "scalp lupus" and for scalp LPP were "lichen planopilaris" OR "scalp follicular lichen planus" OR "lichen planus follicularis" and were combined with "dermoscopy" OR "dermatoscopy" OR "videodermoscopy" OR "video dermatoscopy" OR "trichoscopy". The differences in the prevalence of dermoscopic features in scalp DLE and LPP were calculated using the Chi-square test.
RESULTS
Of 52 articles, 36 (17 LPP, 19 DLE) were eligible for quantitative analysis. We found predominant peripilar tubular casts and perifollicular erythema with the presence of arborizing vessels in the vicinity of these changes, indicating early LPP. In contrast, follicular red dots, speckled brown pigmentation, and hair diameter variability indicated active DLE. Shiny white areas were common in both the groups in late stages. The target pattern of distribution of blue-grey dots, milky red areas, and irregular white fibrotic dots were seen in LPP, and pink-white background, follicular plugs, perifollicular and interfollicular scale, rosettes, chrysalides, and red spider on yellow dots were detected in DLE. Features such as yellow dots and blue-grey structureless areas were nonspecific and did not have a major role in differentiating DLE from LPP.
CONCLUSION
This article provides a comprehensive review of the literature and delineates the trichoscopic differences and peculiarities of scalp DLE and LPP, including the correlation of dermoscopic features with histopathological findings.
PubMed: 38616887
DOI: 10.2147/CCID.S460742 -
Advances in Nutrition (Bethesda, Md.) May 2024Antioxidants are bioactive molecules that function to scavenge free radicals and balance oxidative stress. Although all antioxidants can act as reactive oxygen species... (Meta-Analysis)
Meta-Analysis Review
Effect of Antioxidant Supplementation on Macular Pigment Optical Density and Visual Functions: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.
Antioxidants are bioactive molecules that function to scavenge free radicals and balance oxidative stress. Although all antioxidants can act as reactive oxygen species scavengers, their efficacy on eye health may vary. Moreover, the comparative effectiveness and potential additive effect between groups of antioxidants, hitherto, have not been systematically studied. A systematic review and network meta-analysis were conducted to investigate the comparative or additive effect of dietary antioxidant supplements on eye health. Four databases (PubMed, Embase, CINAHL, and Cochrane) were searched, and relevant randomized controlled trials were identified. Out of 60 articles selected for systematic review, 38 were included in the network meta-analysis, categorized into 8 distinct antioxidant-supplemented groups and placebo. All groups significantly increased macular pigment optical density and contrast sensitivity at low spatial frequency, whereas only the antioxidant mixture + lutein (L) + fatty acid combination exhibited significant improvements in visual acuity (hazard ratio = -0.15; 95% confidence interval: -0.28, -0.02) and L + zeaxanthin combination for photostress recovery time (hazard ratio = -5.75; 95% confidence interval: -8.80, -1.70). Especially, the L + zeaxanthin + fatty acid combination was ranked best for macular pigment optical density (surface under the cumulative ranking: 99.3%) and second best for contrast sensitivity at low spatial frequency (67.7%). However, these findings should be interpreted with caution due to low quality of evidence, primarily influenced by indirectness and potential publication bias. Overall, antioxidant supplementation was estimated to improve eye health parameters, whereas different combinations of antioxidants may also have varying effects on improving visual health from multiple perspectives. This study was registered at PROSPERO as CRD42022369250.
Topics: Humans; Antioxidants; Dietary Supplements; Macular Pigment; Randomized Controlled Trials as Topic; Lutein; Visual Acuity; Zeaxanthins; Network Meta-Analysis; Contrast Sensitivity
PubMed: 38582248
DOI: 10.1016/j.advnut.2024.100216 -
Archives of Dermatological Research Mar 2024The objectives are to determine the frequency that skin color is reported in randomized controlled trials (RCTs) involving squamous cell carcinoma (SCC) detection and...
The objectives are to determine the frequency that skin color is reported in randomized controlled trials (RCTs) involving squamous cell carcinoma (SCC) detection and treatment in leading dermatology journals. A systematic review of RCTs involving SCC was conducted among the top ten most impactful dermatology journals from inception to July 10th, 2023. Studies were included if they reviewed the treatment, prevention, or detection of SCC, involved patients directly and were classified as traditional RCTs. Studies were considered positive for reporting SOC if there was any demographic data in the methods or results of the following terms: Fitzpatrick scale, race, ethnicity, sunburn tendency, or skin of color. Of the 39 studies which were identified, 23 reported data related to skin color data (59.0%). White individuals were the most reported in these studies (56.5%). Subgroup analysis was conducted, and no statistical significance was found for study location, year of publication, or funding source. Skin color impacts skin cancer detection, predominant location of tumors, and recurrence. Less than 60% of high-quality RCTs related to SCC in top global dermatology journals included skin color among the demographic traits of study participants. Subgroup analysis demonstrated no improvement in reporting over the past 2 decades. Further research is needed to understand the reason for low skin color reporting rates among SCC-related RCTs and the impact this has on society.
Topics: Humans; Carcinoma, Squamous Cell; Dermatology; Periodicals as Topic; Randomized Controlled Trials as Topic; Skin Pigmentation; Racial Groups
PubMed: 38554241
DOI: 10.1007/s00403-024-02843-2 -
Hematology (Amsterdam, Netherlands) Dec 2024This article conducts a systematic review of eltrombopag combined with immunosuppressive therapy for the treatment of aplastic anemia (AA), to demonstrate the... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
This article conducts a systematic review of eltrombopag combined with immunosuppressive therapy for the treatment of aplastic anemia (AA), to demonstrate the effectiveness and safety of eltrombopag.
METHODS
PubMed, Cochrane Library, Embase, OVID, Web of Science, China National Knowledge Infrastructure, and Wanfang databases were searched. Studies that met the inclusion criteria were collected, ranging from the establishment of the database to August 2023. Two reviewers performed meta-analyses using the Cochrane systematic review method and RevMan 5.3 software.
RESULTS
This meta-analysis enrolled 5 studies with a total of 542 AA patients, including 274 in the experimental group and 268 in the control group. Meta-analyses were performed for efficacy and adverse reactions. The endpoint of effects included 6-month complete response (CR), 6-month partial response (PR), and 6-month overall response (OR). Eltrombopag combined with immunotherapy showed significant improvements in 6-month CR (OR: 2.20; 95% CI;1.54-3.12; < 0.0001) and 6-month OR (OR = 3.66, 95% CI 2.39-5.61, < 0.001)compared to immunosuppressive therapy for AA patients. In terms of safety, eltrombopag combined with immunosuppressive therapy showed significantly increased pigment deposition and abnormal liver function compared to immunosuppressive therapy alone.
CONCLUSION
Compared to immunosuppressive therapy alone, eltrombopag combined with immunosuppressive therapy showed significant improvements in 6-month CR and 6-month OR. However, it also resulted in increased pigment deposition and abnormal liver function in terms of safety.
Topics: Humans; Immunosuppressive Agents; Anemia, Aplastic; Randomized Controlled Trials as Topic; Immunosuppression Therapy; Benzoates; Hydrazines; Pyrazoles
PubMed: 38553907
DOI: 10.1080/16078454.2024.2335419 -
Journal of Long-term Effects of Medical... 2024The aim of this systematic review was to identify and analyze the findings of various studies that analyzed the changes in the color stability of maxillofacial... (Meta-Analysis)
Meta-Analysis
The aim of this systematic review was to identify and analyze the findings of various studies that analyzed the changes in the color stability of maxillofacial prosthetic materials after the addition of various colorants and nanoparticles and assess the change in color after being subjected to either natural or artificial accelerated aging as well as outdoor aging. This systematic review was conducted in accordance with the guidelines of transparent reporting of systematic reviews and meta-analysis (PRISMA Statement). The primary objective of this systematic review was to evaluate the color stability of maxillofacial prosthesis. The secondary objective was to assess the effect of various colorants; pigments; opacifiers; UV absorbers-such as inorganic colorants (dry earth pigments); metal oxides; and organic colorants. The time period of the included studies extended from 2013 to 2023. Electronic database search identified a total of 217 studies. Ten studies were included to meet the research question. All 10 included studies analyzed the effect of various colorants and their exposure to various aging and weathering conditions. It was found that various pigments and nanoparticles had an effect on the color stability. Also weathering and aging conditions had a direct effect on the color stability as well. In terms of disinfection, although there was not much color difference observed, highest change in color stability was observed when rubbing or brushing of the prosthesis was carried out. In conclusion, the color stability of maxillofacial prosthetics is a critical factor that influences both patient satisfaction and the overall cosmetic look. The potential of pigments and nanoparticles to enhance the color stability of silicone-based maxillofacial prosthesis has received much research. By avoiding color fading and discoloration brought on by environmental variables including UV radiation, aging, and chemical exposure, the inclusion of various pigments and nanoparticles has been demonstrated to improve the color stability of silicone maxillofacial prostheses.
Topics: Humans; Prosthesis Coloring; Silicone Elastomers; Color; Maxillofacial Prosthesis; Prostheses and Implants; Materials Testing
PubMed: 38505893
DOI: 10.1615/JLongTermEffMedImplants.2023048802 -
Beyoglu Eye Journal 2024Micro-pulse cyclophotocoagulation (MP-CPC) represents the latest iteration of minimally invasive laser procedures aimed at reducing intraocular pressure (IOP) through... (Review)
Review
OBJECTIVES
Micro-pulse cyclophotocoagulation (MP-CPC) represents the latest iteration of minimally invasive laser procedures aimed at reducing intraocular pressure (IOP) through the disruption of pigmented ciliary body epithelium. This systematic review aims to assess the efficacy and safety profile of the MP-CPC procedure in comparison to CW-CPC for the treatment of glaucoma.
METHODS
We initiated a search on PubMed, ScienceDirect, and the Cochrane Library databases for studies that compared micro-pulse and traditional CW-CPC in terms of their efficacy and safety profiles. We employed medical subject headings terms and keywords such as "cyclophotocoagulation," "cyclodestructive," "photocoagulation," "CPC," "micropulse," "micro-pulse," and "glaucoma" within the timeframe from 2015 to 2023. We assessed the success rate, IOP reduction, antiglaucoma medications, and complications of MP-CPC and CW-CPC.
RESULTS
We included six articles in this study, comprising two randomized controlled trials, three retrospective, and one prospective cohort, published between 2015 and 2023. Five out of six reported a significant reduction in IOP for both procedures with comparable success rates observed in MP-CPC compared to CW-CPC. One article reported an increase in IOP in MP-CPC. Both groups reported a decrease in the number of antiglaucoma medications, while one study reported an increase in medications in both MP-CPC and CW-CPC groups. Complication rates were lower in the MP-CPC group with two articles reporting a significant decrease compared to the CW-CPC group.
CONCLUSION
MP-CPC has shown promising results in the treatment of glaucoma in the adult population. With comparable results in IOP reduction and fewer instances of serious ocular complications, MP-CPC may open new possibilities for the use of cyclophotocoagulation procedures in the earlier stages of glaucoma. However, its efficacy in the pediatric population and for neovascular glaucoma remains less defined, thus warranting further studies to establish optimal laser parameters for different types of glaucoma and specific populations of glaucoma patients.
PubMed: 38504958
DOI: 10.14744/bej.2024.47123 -
Pediatric Dermatology Mar 2024Pediatric longitudinal melanonychia (LM) can exhibit atypical features that mimic red-flag signs for subungual melanoma in adults and lead to diagnostic uncertainty....
BACKGROUND
Pediatric longitudinal melanonychia (LM) can exhibit atypical features that mimic red-flag signs for subungual melanoma in adults and lead to diagnostic uncertainty. Nail biopsy may be unnecessary if clinical inspection and dermoscopy suggest a benign nature.
METHODS
We searched PubMed and Embase from inception to February 2023 for studies of any design reporting either the number or proportion of clinical and dermoscopic features in at least five children (≤18 years) with LM. Non-English articles, reviews, and abstracts were excluded. We performed a systematic review and meta-analysis to collate all existing data.
RESULTS
A total of 1218 articles were screened and 24 studies with 1391 pediatric patients were included. Nevus was the most common diagnosis (86.3%). The most prevalent sites were fingernails (76.2%) and first digits (45.4%). Pooled proportions of common features were: dark-color bands (69.8%), multi-colored bands (47.6%), broad bandwidth (41.1%), pseudo-Hutchinson sign (41.0%), irregular patterns (38.1%), Hutchinson sign (23.7%), dots and globules (22.5%), nail dystrophy (18.2%), and triangular sign (10.9%). Outcomes included progression (widening or darkening, 29.9%), stability (23.3%), and spontaneous regression (narrowing or fading, 19.9%). Only eight cases of subungual melanoma in situ were reported, and no invasive melanomas were identified.
CONCLUSION
Although atypical characteristics are common in pediatric LM, the probability of malignant transformation is exceedingly low. Appropriate evaluation and management of pediatric LM includes careful clinical and dermoscopic inspection with attention to benign features followed by long-term interval follow-up.
PubMed: 38500311
DOI: 10.1111/pde.15597 -
Food & Function Apr 2024Cardiovascular diseases (CVDs) are a group of chronic health disorders prevalent worldwide that claim millions of lives yearly. Inflammation and oxidative stress are... (Review)
Review
Effectiveness of anthocyanin-containing foods and nutraceuticals in mitigating oxidative stress, inflammation, and cardiovascular health-related biomarkers: a systematic review of animal and human interventions.
Cardiovascular diseases (CVDs) are a group of chronic health disorders prevalent worldwide that claim millions of lives yearly. Inflammation and oxidative stress are intricately associated with myocardial tissue damage, endothelial dysfunction, and increased odds of heart failure. Thus, dietary strategies aimed at decreasing the odds of CVDs are paramount. In this regard, the consumption of anthocyanins, natural pigments found in edible flowers, fruits, and vegetables, has attracted attention due to their potential to promote cardiovascular health. The main mechanisms of action linked with their protective effects on antioxidant and anti-inflammatory activities, serum lipid profile modulation, and other cardiovascular health parameters are explained and exemplified. However, little is known about the dose-dependency nature of the effects, which anthocyanin has better efficiency, and whether anthocyanin-containing foods display better efficacy than nutraceuticals (, concentrated extracts containing higher levels of anthocyanins than foods). Thus, this systematic review focused on determining the effects of anthocyanin-containing foods and nutraceuticals on biomarkers associated with CVDs using animal studies and human interventions supported by mechanistic insights. Overall, the results showed that the regular consumption of anthocyanin-containing foods and nutraceuticals improved vascular function, lipid profile, and antioxidant and anti-inflammatory effects. The daily dosage, the participants' health status, and the duration of the intervention also significantly influenced the results.
Topics: Animals; Humans; Antioxidants; Anthocyanins; Dietary Supplements; Oxidative Stress; Inflammation; Cardiovascular Diseases; Anti-Inflammatory Agents; Biomarkers; Lipids
PubMed: 38482946
DOI: 10.1039/d3fo04579j -
Journal of Cosmetic Dermatology Jul 2024Vitiligo, an autoimmune skin disorder linked to hormonal and genetic factors, results in reduced pigmentation due to a gradual decline in melanocyte activity. This... (Review)
Review
BACKGROUND
Vitiligo, an autoimmune skin disorder linked to hormonal and genetic factors, results in reduced pigmentation due to a gradual decline in melanocyte activity. This systematic review delves into the role of dietary intervention and nutrition in managing vitiligo.
METHODS
A comprehensive search on PubMed, Google Scholar, and European PMC identified 214 studies, with 14 meeting inclusion criteria post-screening. The selected studies primarily explored the impact of dietary supplements on disease activity.
RESULTS
Heavy metal exposure, specifically Cd, Pb, and Hg, indicated potential links to heightened reactive oxygen species and vitiligo development. Conflicting evidence emerged regarding the role of trace minerals (Zn and Cu), with some studies suggesting deficiencies and others proposing excesses in vitiligo patients. Vitamins with anti-inflammatory properties like vitamin C, D, and B12, along with antioxidants, were investigated for their potential in repigmentation strategies. Additionally, polyunsaturated fatty acids (PUFAs), especially in varying types of fat consumption, were implicated. Emphasizing the need to reduce reliance on pharmacological and phototherapy interventions, the review uncovers novel roles for dietary supplements as adjuncts or flare reducers.
CONCLUSION
While dietary interventions cannot be thought of as a standalone therapy, they still make a case for being used as adjuncts. Large scale clinical trials are warranted to establish strong evidence and protocols, and might also help reduce the dependency on pharmacological methods, which come with their adverse effect profiles.
Topics: Humans; Vitiligo; Dietary Supplements; Diet; Antioxidants; Vitamins; Nutritional Status; Skin Pigmentation; Trace Elements; Fatty Acids, Unsaturated
PubMed: 38465786
DOI: 10.1111/jocd.16277