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International Journal of Dermatology Jun 2024The epidemiological landscape of infantile hemangioma (IH) has been extensively explored through diverse data sources; however, a scarcity of systematically pooled and... (Meta-Analysis)
Meta-Analysis Review
The epidemiological landscape of infantile hemangioma (IH) has been extensively explored through diverse data sources; however, a scarcity of systematically pooled and quantified evidence from comprehensive global studies persists. In this meta-analysis, we systematically review available literature to elucidate the prevalence, distribution of lesions, complications, and risk factors associated with IH. A meticulous search encompassing the Cochrane Library, PubMed, Embase, and Web of Science identified 3206 records, of which 55 studies met the inclusion criteria. We found that the overall prevalence of IH is 2.8% [95% confidence interval (CI): 1.5-4.4%] (31,274,396 infants), and IH was located more frequently in the head and neck with a prevalence of 47.4% (95% CI: 39.5-55.4%). The overall prevalence of complications of IH is 24.3% (95% CI: 18.6-30.5%), ulceration is 16.0% (95% CI: 10.4-21.2%), bleeding is 5.6% (95% CI: 3.3-8.5%), visual impairment is 5.6% (95% CI: 3.0-8.9%), infection is 2.8% (95% CI: 1.5-4.8%), subglottic obstruction is 1.5% (95% CI: 0.5-3.0%), respectively. Through 27 studies, we have evaluated 35 factors encompassing perinatal factors, socioeconomic factors, maternal complications, drug factors, and antepartum procedures, and identified 18 risk factors that increase the prevalence of IH. These findings can greatly assist clinicians and family members in effectively evaluating the risk of IH, and determining whether pregnant women should undergo intensified monitoring or preventive measures.
Topics: Humans; Risk Factors; Prevalence; Infant; Skin Neoplasms; Hemangioma; Pregnancy; Vision Disorders; Female; Hemorrhage; Ulcer; Infections; Head and Neck Neoplasms; Airway Obstruction
PubMed: 38329175
DOI: 10.1111/ijd.17062 -
Annals of the New York Academy of... Mar 2024Our aim was to find the best evidence on the prevalence of idiopathic scoliosis (IS) in subjects with eye diseases (EDs) and to determine the most common visual... (Meta-Analysis)
Meta-Analysis Review
Our aim was to find the best evidence on the prevalence of idiopathic scoliosis (IS) in subjects with eye diseases (EDs) and to determine the most common visual alterations that are present. Following the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), a bibliographic search up to June 2023 in the PubMed, PsycINFO, SCOPUS, and CINAHL Complete databases was performed. Observational studies were selected and the results were analyzed with prevalence odds ratio (OR). A total of six studies, including 18,396 subjects, were selected. The group of subjects with EDs was made up of 6048 individuals, of whom 655 (10.83%) had IS. The group of subjects without EDs was made up of 12,348 individuals of whom 444 (3.60%) presented with IS with an OR = 2.91, CI (95%) = [1.75, 4.83]. Blindness was assessed in a single study with an OR = 7.83, CI (95%) = [1.66, 36.90]; all three studies in the refractive error subgroup yielded an OR = 2.24, CI (95%) = [1.10, 4.58]; and the two studies that included subjects with strabismus showed an OR = 3.09, CI (95%) = [1.38, 7.00]. EDs were associated with an almost three times greater odds of having IS. We recommend the inclusion of vision testing in children with IS.
Topics: Child; Humans; Scoliosis; Refractive Errors; Vision Disorders; Prevalence
PubMed: 38327125
DOI: 10.1111/nyas.15102 -
Gene May 2024Changes in the nervous system are related to a wide range of mental disorders, which include neurodevelopmental disorders (NDD) that are characterized by early onset... (Review)
Review
Genetic network analysis indicate that individuals affected by neurodevelopmental conditions have genetic variations associated with ophthalmologic alterations: A critical review of literature.
Changes in the nervous system are related to a wide range of mental disorders, which include neurodevelopmental disorders (NDD) that are characterized by early onset mental conditions, such as schizophrenia and autism spectrum disorders and correlated conditions (ASD). Previous studies have shown distinct genetic components associated with diverse schizophrenia and ASD phenotypes, with mostly focused on rescuing neural phenotypes and brain activity, but alterations related to vision are overlooked. Thus, as the vision is composed by the eyes that itself represents a part of the brain, with the retina being formed by neurons and cells originating from the glia, genetic variations affecting the brain can also affect the vision. Here, we performed a critical systematic literature review to screen for all genetic variations in individuals presenting NDD with reported alterations in vision. Using these restricting criteria, we found 20 genes with distinct types of genetic variations, inherited or de novo, that includes SNP, SNV, deletion, insertion, duplication or indel. The variations occurring within protein coding regions have different impact on protein formation, such as missense, nonsense or frameshift. Moreover, a molecular analysis of the 20 genes found revealed that 17 shared a common protein-protein or genetic interaction network. Moreover, gene expression analysis in samples from the brain and other tissues indicates that 18 of the genes found are highly expressed in the brain and retina, indicating their potential role in adult vision phenotype. Finally, we only found 3 genes from our study described in standard public databanks of ophthalmogenetics, suggesting that the other 17 genes could be novel target for vision diseases.
Topics: Adult; Humans; Gene Regulatory Networks; Neurodevelopmental Disorders; Autism Spectrum Disorder; Phenotype; INDEL Mutation
PubMed: 38325665
DOI: 10.1016/j.gene.2024.148246 -
Current Eye Research Jun 2024Long non-coding RNAs are an essential component of competing endogenous RNA regulatory axes and play their role by sponging microRNAs and interfering with the regulation...
PURPOSE
Long non-coding RNAs are an essential component of competing endogenous RNA regulatory axes and play their role by sponging microRNAs and interfering with the regulation of gene expression. Because of the broadness of competing endogenous RNA interaction networks, they may help investigate treatment targets in complicated disorders.
METHODS
This study performed a systematic scoping review to assess verified loops of competing endogenous RNAs in retinoblastoma, emphasizing the competing endogenous RNAs axis related to long non-coding RNAs. We used a six-stage approach framework and the PRISMA guidelines. A systematic search of seven databases was done to locate suitable papers published before February 2022. Two reviewers worked independently to screen articles and collect data.
RESULTS
Out of 363 records, fifty-one articles met the inclusion criteria, and sixty-three axes were identified in desired articles. The majority of the research reported several long non-coding RNAs that were experimentally verified to act as competing endogenous RNAs in retinoblastoma: XIST/NEAT1/MALAT1/SNHG16/KCNQ1OT1, respectively. At the same time, around half of the studies investigated unique long non-coding RNAs.
CONCLUSIONS
Understanding the many features of this regulatory system may aid in elucidating the unknown etiology of Retinoblastoma and providing novel molecular targets for therapeutic and clinical applications.
Topics: Retinoblastoma; RNA, Long Noncoding; Humans; Retinal Neoplasms; Gene Expression Regulation, Neoplastic; MicroRNAs; Biomarkers, Tumor; RNA, Competitive Endogenous
PubMed: 38299506
DOI: 10.1080/02713683.2024.2306859 -
Natural Product Research Jan 2024Intraocular pressure (IOP) positively correlates with both normal and high-tension glaucoma. To date, IOP targeting remains the validated pharmacological approach in... (Review)
Review
Evaluation of the nutraceutical Palmitoylethanolamide in reducing intraocular pressure (IOP) in patients with glaucoma or ocular hypertension: a systematic review and meta-analysis.
Intraocular pressure (IOP) positively correlates with both normal and high-tension glaucoma. To date, IOP targeting remains the validated pharmacological approach in counteracting glaucoma progression as well as in halting vision loss. Among the different adjuvant compounds, evidence highlighted the potential effectiveness of Palmitoylethanolamide (PEA), an endogenous fatty acid amide. Thus, a systematic review of the literature was conducted, thoroughly evaluating PEA treatment regimen in decreasing IOP in patients with eye disorders. We checked for articles across the scientific databases Pubmed (MEDLINE), Embase (OVID), and Web of Science from the inception to 30 August 2023, and a total of 828 articles were recovered. Six of these studies (199 patients) were included in the systematic review after the study selection process, and three studies for meta-analysia. Overall, PEA showed significant efficacy in reducing IOP in patients, this encourages its clinical use in glaucoma as well as across different forms of eye disorders.
PubMed: 38269580
DOI: 10.1080/14786419.2024.2306916 -
Journal of Clinical Neuroscience :... Feb 2024Anosognosia, a neurological condition, involves a lack of awareness of one's neurological or psychiatric deficits. Anton Syndrome (AS), an unusual form of anosognosia,... (Review)
Review
INTRODUCTION
Anosognosia, a neurological condition, involves a lack of awareness of one's neurological or psychiatric deficits. Anton Syndrome (AS), an unusual form of anosognosia, manifests as bilateral vision loss coupled with denial of blindness. This systematic review delves into 64 studies encompassing 72 AS cases to explore demographics, clinical presentations, treatments, and outcomes.
MATERIALS AND METHODS
The study rigorously followed PRISMA guidelines, screening PubMed, Google Scholar, and Scopus databases without timeframe limitations. Only English human studies providing full text were included. Data underwent thorough assessment, examining patient demographics, etiological variables, and treatment modalities.
RESULTS
Sixty-four studies met the stringent inclusion criteria. Examining 72 AS cases showed a median age of 55 (6 to 96 years) with no gender preference. Hypertension (34.7 %) and visual anosognosia (90.3 %) were prevalent. Stroke (40.3 %) topped causes. Management included supportive (30.6 %) and causal approaches (30.6 %). Improvement was seen in 45.8 %, unchanged in 22.2 %, and deterioration in 11.1 %. Anticoagulation correlated with higher mortality (p < 0.05).
DISCUSSION
AS, an unusual manifestation of blindness, stems mainly from occipital lobe damage, often due to cerebrovascular incidents. The syndrome shares features with Dide-Botcazo syndrome and dates back to Roman times. Its causes range from strokes to rare conditions like multiple sclerosis exacerbation. Accurate diagnosis involves considering clinical presentations and imaging studies, distinguishing AS from similar conditions.
CONCLUSION
This comprehensive review sheds light on AS's complex landscape, emphasizing diverse etiologies, clinical features, and treatment options. Tailored treatments aligned with individual causes are crucial. The study's findings caution against blanket anticoagulation therapy, suggesting a nuanced approach. Further research is pivotal to refine diagnostics and optimize care for AS individuals.
Topics: Humans; Middle Aged; Aged; Aged, 80 and over; Blindness, Cortical; Brain; Stroke; Vision Disorders; Agnosia
PubMed: 38262263
DOI: 10.1016/j.jocn.2024.01.014 -
Bioengineering (Basel, Switzerland) Jan 2024Hereditary optic neuropathies (HONs) such as dominant optic atrophy (DOA) and Leber Hereditary Optic Neuropathy (LHON) are mitochondrial diseases characterized by a... (Review)
Review
Hereditary optic neuropathies (HONs) such as dominant optic atrophy (DOA) and Leber Hereditary Optic Neuropathy (LHON) are mitochondrial diseases characterized by a degenerative loss of retinal ganglion cells (RGCs) and are a cause of blindness worldwide. To date, there are only limited disease-modifying treatments for these disorders. The discovery of induced pluripotent stem cell (iPSC) technology has opened several promising opportunities in the field of HON research and the search for therapeutic approaches. This systematic review is focused on the two most frequent HONs (LHON and DOA) and on the recent studies related to the application of human iPSC technology in combination with biomaterials technology for their potential use in the development of RGC replacement therapies with the final aim of the improvement or even the restoration of the vision of HON patients. To this purpose, the combination of natural and synthetic biomaterials modified with peptides, neurotrophic factors, and other low- to medium-molecular weight compounds, mimicking the ocular extracellular matrices, with human iPSC or iPSC-derived cell retinal progenitors holds enormous potential to be exploited in the near future for the generation of transplantable RGC populations.
PubMed: 38247929
DOI: 10.3390/bioengineering11010052 -
Neurosurgical Review Jan 2024Cavernomas are histologically benign vascular malformations found at different sites in the brain. A rare site for such cavernomas, however, is the anterior optic... (Review)
Review
Cavernomas are histologically benign vascular malformations found at different sites in the brain. A rare site for such cavernomas, however, is the anterior optic pathway, comprising the optic nerve, chiasma, and optic tract-called optochiasmatic cavernomas (OCC). These lesions usually present with sudden onset or progressive vision loss, headache, and features mimicking pituitary apoplexy. In this paper, we describe a case of OCC operated at our center. We carry out an updated review of literature depicting cases of OCC, their clinical presentation, management, and postoperative complications. We also propose a novel classification system based on lesion location and further analyze these cavernoma types with respect to the surgical approach used and visual outcome. A 30-year-old lady had presented with a 3-week history of progressive bilateral vision loss and headache. Based on imaging, she was suspected to have a cavernous angioma of the chiasma and left optic tract. Due to progressive vision deterioration, the lesion was surgically excised using pterional craniotomy. Postoperatively, her visual symptoms improved, but she developed diabetes insipidus. Clinical and radiological follow-up has been done for 18 months after surgery. A total of 81 cases have been described in the literature, including the present case. Chiasmal apoplexy is the most common presentation. Surgical excision is the standard of care. Our analysis based on lesion location shows the most appropriate surgical approach to be used for each cavernoma type. Visual outcome correlates with the preoperative visual status. Visual outcome is good in patients presenting with acute chiasmal apoplexy, and when complete surgical excision is performed. The endonasal endoscopic approach was found to provide the best visual outcome. In addition to preoperative visual status, complete surgical excision predicts favorable visual outcomes in OCC. Our proposed classification system guides the appropriate surgical approach required for a particular location of the cavernoma.
Topics: Adult; Female; Humans; Headache; Hemangioma, Cavernous; Optic Chiasm; Optic Nerve; Stroke; Vision Disorders
PubMed: 38238497
DOI: 10.1007/s10143-024-02288-1 -
European Journal of Medical Research Jan 2024Patients with autoimmune and immune-mediated diseases (AI-IMD) are at greater risk of COVID-19 infection; therefore, they should be prioritized in vaccination programs.... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Patients with autoimmune and immune-mediated diseases (AI-IMD) are at greater risk of COVID-19 infection; therefore, they should be prioritized in vaccination programs. However, there are concerns regarding the safety of COVID-19 vaccines in terms of disease relapse, flare, or exacerbation. In this study, we aimed to provide a more precise and reliable vision using systematic review and meta-analysis.
METHODS
PubMed-MEDLINE, Embase, and Web of Science were searched for original articles reporting the relapse/flare in adult patients with AI-IMD between June 1, 2020 and September 25, 2022. Subgroup analysis and sensitivity analysis were conducted to investigate the sources of heterogeneity. Statistical analysis was performed using R software.
RESULTS
A total of 134 observations of various AI-IMDs across 74 studies assessed the rate of relapse, flare, or exacerbation in AI-IMD patients. Accordingly, the crude overall prevalence of relapse, flare, or exacerbation was 6.28% (95% CI [4.78%; 7.95%], I = 97.6%), changing from 6.28% (I = 97.6%) to 6.24% (I = 65.1%) after removing the outliers. AI-IMD patients administering mRNA, vector-based, and inactive vaccines showed 8.13% ([5.6%; 11.03%], I = 98.1%), 0.32% ([0.0%; 4.03%], I = 93.5%), and 3.07% ([1.09%; 5.9%], I = 96.2%) relapse, flare, or exacerbation, respectively (p-value = 0.0086). In terms of disease category, nephrologic (26.66%) and hematologic (14.12%) disorders had the highest and dermatologic (4.81%) and neurologic (2.62%) disorders exhibited to have the lowest crude prevalence of relapse, flare, or exacerbation (p-value < 0.0001).
CONCLUSION
The risk of flare/relapse/exacerbation in AI-IMD patients is found to be minimal, especially with vector-based vaccines. Vaccination against COVID-19 is recommended in this population.
Topics: Adult; Humans; COVID-19 Vaccines; SARS-CoV-2; COVID-19; Autoimmune Diseases; Vaccination; Chronic Disease
PubMed: 38229141
DOI: 10.1186/s40001-024-01639-4 -
Journal of Child Health Care : For... Jan 2024We aimed to systematically categorize evidence on the types of early visual stimulation applied to preterm infants (PTIs) admitted to neonatal intensive care units... (Review)
Review
We aimed to systematically categorize evidence on the types of early visual stimulation applied to preterm infants (PTIs) admitted to neonatal intensive care units (NICUs), aiming to improve visual function parameters. This study was conducted according to PRISMA and registered in PROSPERO with CRD42022333753. Last search was conducted on March 15, 2023, in four different databases. Articles written in English, Portuguese, Spanish, or Italian, and available in full text were included. Two independent authors performed study selection, data extraction, and bias risk assessment. If there was any disagreement, a third author was contacted. A total of eight studies were included. From these, 62.5% presented a low risk of bias. 100% used a multisensory intervention, which included visual stimulation. In 50%, visual intervention consisted of black and white stimulation cards placed inside the incubator for three minutes. The outcomes showed positive benefits in visual function parameters and other reported clinical benefits in breastfeeding and neuromuscular development. This review demonstrated there is still scarce literature on the effects of early visual stimulation on purely visual functional outcomes, although the existing findings are promising. Parental involvement has been generating unquestionable benefits for the binomial mother-infant and gaining greater acceptance by health professionals.
PubMed: 38213009
DOI: 10.1177/13674935241227344