-
Journal of Internal Medicine Mar 2022Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rare but fatal microgliopathy. The diagnosis is often delayed due to multifaceted symptoms... (Meta-Analysis)
Meta-Analysis Review
Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rare but fatal microgliopathy. The diagnosis is often delayed due to multifaceted symptoms that can mimic several other neurological disorders. Imaging provides diagnostic clues that help identify cases. The objective of this study was to integrate the literature on neuroimaging phenotypes of CSF1R-related leukoencephalopathy. A systematic review and meta-analysis were performed for neuroimaging findings of CSF1R-related leukoencephalopathy via PubMed, Web of Science, and Embase on 25 August 2021. The search included cases with confirmed CSF1R mutations reported under the previous terms hereditary diffuse leukoencephalopathy with spheroids, pigmentary orthochromatic leukodystrophy, and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. In 78 studies providing neuroimaging data, 195 cases were identified carrying CSF1R mutations in 14 exons and five introns. Women had a statistically significant earlier age of onset (p = 0.041, 40 vs 43 years). Mean delay between symptom onset and neuroimaging was 2.3 years. Main magnetic resonance imaging (MRI) findings were frontoparietal white matter lesions, callosal thinning, and foci of restricted diffusion. The hallmark computed tomography (CT) finding was white matter calcifications. Widespread cerebral hypometabolism and hypoperfusion were reported using positron emission tomography and single-photon emission computed tomography. In conclusion, CSF1R-related leukoencephalopathy is associated with progressive white matter lesions and brain atrophy that can resemble other neurodegenerative/-inflammatory disorders. However, long-lasting diffusion restriction and parenchymal calcifications are more specific findings that can aid the differential diagnosis. Native brain CT and brain MRI (with and without a contrast agent) are recommended with proposed protocols and pictorial examples are provided.
Topics: Brain; Female; Humans; Leukoencephalopathies; Magnetic Resonance Imaging; Mutation; Neuroimaging; Phenotype
PubMed: 34875121
DOI: 10.1111/joim.13420 -
Pigment Cell & Melanoma Research May 2022Acral melanoma (AM) tumors arise on the palms, soles, fingers, toes, and nailbeds. A comprehensive systematic meta-analysis of AM genomic aberrations has not been... (Meta-Analysis)
Meta-Analysis
Acral melanoma (AM) tumors arise on the palms, soles, fingers, toes, and nailbeds. A comprehensive systematic meta-analysis of AM genomic aberrations has not been conducted to date. A literature review was carried out to identify studies sequencing AM. Whole-genome/exome data from 181 samples were identified. Targeted panel sequencing data from MSK-IMPACT were included as a validation cohort (n = 92), and studies using targeted hot spot sequencing were also collated for BRAF (n = 26 studies), NRAS (n = 21), and KIT (n = 32). Statistical analysis indicated BRAF, NRAS, PTEN, TYRP1, and KIT as significantly mutated genes. Frequent copy-number aberrations were also found for important cancer genes, such as CDKN2A, KIT, MDM2, CCND1, CDK4, and PAK1, among others. Mapping genomic alterations within the context of the hallmarks of cancer identified four components frequently altered, including (i) sustained proliferative signaling and (ii) evading growth suppression, (iii) genome instability and mutation, and (iv) enabling replicative immortality. This analysis provides the largest analysis of genomic aberrations in AM in the literature to date and highlights pathways that may be therapeutically targetable.
Topics: Genomics; Humans; Melanoma; Proto-Oncogene Proteins B-raf; Skin Neoplasms; Melanoma, Cutaneous Malignant
PubMed: 35229492
DOI: 10.1111/pcmr.13034 -
RSC Advances Jun 2021Tyrosinase is a multifunctional glycosylated and copper-containing oxidase that is highly prevalent in plants and animals and plays a pivotal role in catalyzing the two... (Review)
Review
Tyrosinase is a multifunctional glycosylated and copper-containing oxidase that is highly prevalent in plants and animals and plays a pivotal role in catalyzing the two key steps of melanogenesis: tyrosine's hydroxylation to dihydroxyphenylalanine (DOPA), and oxidation of the latter species to dopaquinone. Melanin guards against the destructive effects of ultraviolet radiation which is known to produce considerable pathological disorders such as skin cancer, among others. Moreover, the overproduction of melanin can create aesthetic problems along with serious disorders linked to hyperpigmented spots or patches on skin. Several skin-whitening products which reduce melanogenesis activity and alleviate hyperpigmentation are commercially available. A few of them, particularly those obtained from natural sources and that incorporate a phenolic scaffold, have been exploited in the cosmetic industry. In this context, synthetic tyrosinase inhibitors (TIs) with elevated efficacy and fewer side effects are direly needed in the pharmaceutical and cosmetic industries owing to their protective effect against pigmentation and dermatological disorders. Furthermore, the biological significance of the chromone skeleton and its associated medicinal and bioactive properties has drawn immense interest and inspired many researchers to design and develop novel anti-tyrosinase agents based on the flavonoid core (2-arylchromone). This review article is oriented to provide an insight and a deeper understanding of the tyrosinase inhibitory activity of an array of natural and bioinspired phenolic compounds with special emphasis on flavonoids to demonstrate how the position of ring substituents and their interaction with tyrosinase could be correlated with their effectiveness or lack thereof against inhibiting the enzyme.
PubMed: 35480807
DOI: 10.1039/d1ra03196a -
Computational Intelligence and... 2022Chloasma is a common skin pigment disorder. Treatment of chloasma has been challenging, often unsatisfactory, and difficult to avoid recurrence. PRP is a new treatment... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Chloasma is a common skin pigment disorder. Treatment of chloasma has been challenging, often unsatisfactory, and difficult to avoid recurrence. PRP is a new treatment for chloasma, but there is no consensus on its use. Lingyun Zhao's team recently reported a systematic evaluation and meta-analysis of the efficacy and safety of PRP in the treatment of chloasma, which is consistent with our ideas, but we will elaborate on the application of PRP in chloasma from a deeper and more comprehensive perspective. Before we started this study, we had registered with Prospero as CRD42021233721.
METHODS
The authors searched the public medical network, MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, ScienceDirect, Scopus, and Science Network. The clinical trials registry ClinicalTrials.gov databases were searched for relevant publications to June 2021. The results showed the area and severity of chloasma (MASI) or revised MASI (mMASI) score.
RESULTS
Three RCTs, one nonrandomized controlled study, and four were prospective before and after self-controlled studies met the inclusive criteria. Intradermal PRP injections significantly improved chloasma as indicated by the significant decrease MASI (average balance -6.71, 95% CI -8.99 to -4.33) and mMASI scores (average balance -2.94, 95% CI -4.81 to -1.07). The adverse reactions were mild, and there were no significant long-term adverse events. . The data can reflect the effectiveness and safety of PRP therapy for chloasma. RCTs are needed to determine effective treatment parameters, and long-term follow-up should be included to better clarify the efficacy and side effects of PRP in treating chloasma.
Topics: Humans; Melanosis; Platelet-Rich Plasma; Prospective Studies; Treatment Outcome
PubMed: 35432505
DOI: 10.1155/2022/7487452 -
Frontiers in Aging Neuroscience 2023The retina is the "window" of the central nervous system. Previous studies discovered that retinal thickness degenerates through the pathological process of the...
INTRODUCTION
The retina is the "window" of the central nervous system. Previous studies discovered that retinal thickness degenerates through the pathological process of the Alzheimer's disease (AD) continuum. Hippocampal atrophy is one of the typical clinical features and diagnostic criteria of AD. Former studies have described retinal thinning in normal aging subjects and AD patients, yet the association between retinal thickness and hippocampal atrophy in AD is unclear. The optical coherence tomography (OCT) technique has access the non-invasive to retinal images and magnetic resonance imaging can outline the volume of the hippocampus. Thus, we aim to quantify the correlation between these two parameters to identify whether the retina can be a new biomarker for early AD detection.
METHODS
We systematically searched the PubMed, Embase, and Web of Science databases from inception to May 2023 for studies investigating the correlation between retinal thickness and hippocampal volume. The Newcastle-Ottawa Quality Assessment Scale (NOS) was used to assess the study quality. Pooled correlation coefficient values were combined after Fisher's Z transformation. Moderator effects were detected through subgroup analysis and the meta-regression method.
RESULTS
Of the 1,596 citations initially identified, we excluded 1,062 studies after screening the titles and abstract (animal models, = 99; irrelevant literature, = 963). Twelve studies met the inclusion criteria, among which three studies were excluded due to unextractable data. Nine studies were eligible for this meta-analysis. A positive moderate correlation between the retinal thickness was discovered in all participants of with AD, mild cognitive impairment (MCI), and normal controls (NC) ( = 0.3469, 95% CI: 0.2490-0.4377, = 5.0%), which was significantly higher than that of the AD group ( = 0.1209, 95% CI:0.0905-0.1510, = 0.0%) ( < 0.05). Among different layers, the peripapillary retinal nerve fiber layer (pRNFL) indicated a moderate positive correlation with hippocampal volume ( = 0.1209, 95% CI:0.0905-0.1510, = 0.0%). The retinal pigmented epithelium (RPE) was also positively correlated [ = 0.1421, 95% CI:(-0.0447-0.3192), = 84.1%]. The retinal layers and participants were the main overall heterogeneity sources. Correlation in the bilateral hemisphere did not show a significant difference.
CONCLUSION
The correlation between RNFL thickness and hippocampal volume is more predominant in both NC and AD groups than other layers. Whole retinal thickness is positively correlated to hippocampal volume not only in AD continuum, especially in MCI, but also in NC.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/PROSPERO/, CRD42022328088.
PubMed: 37680540
DOI: 10.3389/fnagi.2023.1232941 -
Journal of the European Academy of... Jan 2023Congenital melanocytic nevi (CMN) are commonly encountered benign skin lesions in newborns. Larger CMN is associated with a higher lifetime risk of developing melanoma.... (Meta-Analysis)
Meta-Analysis Review
Congenital melanocytic nevi (CMN) are commonly encountered benign skin lesions in newborns. Larger CMN is associated with a higher lifetime risk of developing melanoma. However, the level of risk is unclear when CMN are small or medium-sized. Our objective was to assess melanoma risk in patients with CMN of all size categories. A literature review with meta-analysis was performed. Prevalence and incidence densities of melanoma at onset were calculated in the entire study population and according to CMN size, type of treatment and location of the CMN. A total of 91 melanomas were reported in 7915 patients (1.15%, 95% CI, 0.93-1.41). The overall incidence density was 0.057% person-years (95% CI 0.044-0.071). The risk ratio of melanoma incidence densities was 21.9 (95% CI, 8.55-56.3) in large to giant CMN compared with small to medium CMN at 15 years of age. The incidence density was higher in CMN located on the trunk and as well as in those which were untreated or partially treated versus complete excision. Our review suggests patients with CMN of medium, large and giant size are at risk of melanoma, whereas the risk remains unknown for small CMN.
Topics: Humans; Infant, Newborn; Nevus, Pigmented; Melanoma; Skin Neoplasms; Incidence
PubMed: 36149403
DOI: 10.1111/jdv.18581 -
Archivos de La Sociedad Espanola de... Jan 2024The treatment of dark circles is one of the most common request from the patients attending to the esthetics clinic. A tired, sad or aged appearance is perceived by our... (Review)
Review
The treatment of dark circles is one of the most common request from the patients attending to the esthetics clinic. A tired, sad or aged appearance is perceived by our patients. Moreover, it is a multifactorial problem and we could treat it with a wide range of treatments. With this systematic review, we want to check the best available evidence regarding the treatment of periorbital hyperpigmentation using light devices. We have reviewed 208 papers, including 14 of them for full consideration. Several light sources have demonstrated to be effective treating pigmented dark circles. The best results have been reported using intense pulsed light and rubi laser together with depigmenting substances. If we want to treat periocular hyperpigmentation, soft wrinkles, rhytides and skin density we should use carbo dioxide laser or Erbium:Yttrium Scandium Gallium Garnet. The Neodymium-Doped Yttrium Aluminium Garnet, alexandrite and diode lasers were the ones giving the worst outcome regarding pigmentation treatment. The concomitant use of depigmenting treatment may help getting better results and reducing the rate of post inflammatory hyperpigmentation. A better standardization and measuring of the obtained results is needed regarding pigmentation changes. We must keep on investigating on this topic with new clinical trials measuring objective results and combining different light devices for a multifactorial treatment of the dark circles.
Topics: Humans; Aged; Hyperpigmentation; Skin; Treatment Outcome; Skin Aging; Yttrium
PubMed: 37661041
DOI: 10.1016/j.oftale.2023.08.010 -
Dermatology Practical & Conceptual Nov 2022Differentiating early melanoma from other flat pigmented lesions on the head and neck is challenging both clinically and dermoscopically, partly due to the wide... (Review)
Review
INTRODUCTION
Differentiating early melanoma from other flat pigmented lesions on the head and neck is challenging both clinically and dermoscopically, partly due to the wide differential diagnosis and the lack of specific diagnostic algorithms.
OBJECTIVES
To review publications covering the dermoscopic features of pigmented macules on the head and neck.
METHODS
Embase and PubMed (Medline) database from January 2015 to January 2021 were searched using a four-step search. Keywords used were dermoscopy/dermatoscopy or epiluminescence microscopy, lentigo maligna, lentigo maligna melanoma, lichen-planus-like-keratosis, solar lentigo, seborrheic keratosis, pigmented actinic keratosis (PAK), pigmented Bowen disease (pBD), pigmented intraepidermal carcinoma (pIEC) and head and neck.
RESULTS
The commonest reported dermoscopic features of facial melanoma were irregular dots, atypical dots/globules, asymmetric pigmented follicular openings, rhomboid gray/black structures, increased vascular network, brown globules/dots and a pattern of circles. Pseudopods, radial streaming, blue white veil, irregular blotches, scar-like depigmentation and atypical pigment network were recorded in low frequencies. For PAK, pBD and pIEC perifollicular erythema, white/yellow surface scale, linear wavy vessels around hair follicles, hair follicular openings surrounded by a white halo, evident follicles or follicular or keratotic plugs, rosette sign and sharply demarcated borders were the salient features.
CONCLUSIONS
Further studies are needed to determine the dermoscopic criteria for pigmented melanocytic and non-melanocytic lesions on the head and neck. Furthermore, there is a gap in the knowledge of site-specific dermoscopic features on specific sites, namely ears, nose, cheeks, scalp and neck which will also benefit from further studies.
PubMed: 36534577
DOI: 10.5826/dpc.1204a194 -
Journal of the American Academy of... Jul 2022Although lasers have been the criterion standard for tattoo removal, selecting the best modality can be challenging because of the varying efficacies and adverse effects. (Review)
Review
BACKGROUND
Although lasers have been the criterion standard for tattoo removal, selecting the best modality can be challenging because of the varying efficacies and adverse effects.
OBJECTIVE
To evaluate all lasers used to remove tattoos and assess their efficacies and adverse effects.
METHODS
Our systematic review searched PubMed, MEDLINE, Embase, Scopus, CINAHL, Cochrane Central Register of Trials, and ClinicalTrials.gov for all laser treatments. The outcomes measured included laser parameters, treatment methods, patient and tattoo characteristics, clearance rate, and adverse effect rate. The quality of the included articles was appraised by using specific assessment tools and given a high, moderate, or low risk of bias.
RESULTS
Our search led to 3037 studies, with 36 being included in the systematic review (7 randomized controlled trials, 2 nonrandomized controlled trials, and 27 case series). Although quality-switched neodymium-doped yttrium-aluminum-garnet lasers are safe and effective, picosecond lasers have shown superiority with blue, green, and yellow tattoo pigments. Both are safe and effective for black tattoos.
LIMITATIONS
Variability among studies.
CONCLUSIONS
Picosecond lasers show superiority when treating blue, green, and yellow tattoos. The R20 and R0 novel techniques can effectively reduce treatment time. Further randomized controlled trials are required to make a more definitive recommendation.
Topics: Humans; Laser Therapy; Lasers, Solid-State; Tattooing
PubMed: 32763326
DOI: 10.1016/j.jaad.2020.07.117 -
Wound Repair and Regeneration :... 2023Across scar studies, there is a lack of dark-skinned individuals, who have a predisposition for keloid formation, altered pigmentation and poorer quality of life (QOL).... (Review)
Review
Across scar studies, there is a lack of dark-skinned individuals, who have a predisposition for keloid formation, altered pigmentation and poorer quality of life (QOL). There is a need for patients of colour to be included in scar scale development and validation. In this study, we evaluate the racial diversity of patients included in the validation of scar assessment scales. A systematic review was conducted for articles reporting on the validation of a scar assessment tool. Racial, ethnic and Fitzpatrick skin type (FST) data were extracted. Fifteen scar scale validation studies were included. Nine of the studies did not mention FST, race or ethnicity of the patients. Two of the studies that reported FST or race information only included White patients or included no FST V/VI patients: mapping assessment of scars (MAPS) and University of North Carolina '4P'. Only four studies included non-White patients or dark-skinned patients in the validation of their scar scale: the modified Vancouver Scar Scale (VSS), modified Patient and Observer Scar Assessment Scale (POSAS), acne QOL and SCAR-Q scales. The patients included in the modified VSS validation were 7% and 13% FST V/VI, 14% African in the modified POSAS and 4.5% FST V/VI in the SCAR-Q. We highlight the severe lack of diversity in scar scale validation, with only 4 out of 15 studies including dark-skinned patients. Given the susceptibility of darker-skinned individuals to have poorer scarring outcomes, it is critical to include patients of colour in the very assessment tools that determine their scar prognosis. Inclusion of patients of colour in scar scale development will improve scar assessment and clinical decision-making.
Topics: Humans; Cicatrix; Quality of Life; Skin Pigmentation; Wound Healing; Skin
PubMed: 37768279
DOI: 10.1111/wrr.13120