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1.
Diagnostics (Basel) ; 14(11)2024 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-38893694

RESUMO

This survey represents the first endeavor to assess the clarity of the dermoscopic language by a chatbot, unveiling insights into the interplay between dermatologists and AI systems within the complexity of the dermoscopic language. Given the complex, descriptive, and metaphorical aspects of the dermoscopic language, subjective interpretations often emerge. The survey evaluated the completeness and diagnostic efficacy of chatbot-generated reports, focusing on their role in facilitating accurate diagnoses and educational opportunities for novice dermatologists. A total of 30 participants were presented with hypothetical dermoscopic descriptions of skin lesions, including dermoscopic descriptions of skin cancers such as BCC, SCC, and melanoma, skin cancer mimickers such as actinic and seborrheic keratosis, dermatofibroma, and atypical nevus, and inflammatory dermatosis such as psoriasis and alopecia areata. Each description was accompanied by specific clinical information, and the participants were tasked with assessing the differential diagnosis list generated by the AI chatbot in its initial response. In each scenario, the chatbot generated an extensive list of potential differential diagnoses, exhibiting lower performance in cases of SCC and inflammatory dermatoses, albeit without statistical significance, suggesting that the participants were equally satisfied with the responses provided. Scores decreased notably when practical descriptions of dermoscopic signs were provided. Answers to BCC scenario scores in the diagnosis category (2.9 ± 0.4) were higher than those with SCC (2.6 ± 0.66, p = 0.005) and inflammatory dermatoses (2.6 ± 0.67, p = 0). Similarly, in the teaching tool usefulness category, BCC-based chatbot differential diagnosis received higher scores (2.9 ± 0.4) compared to SCC (2.6 ± 0.67, p = 0.001) and inflammatory dermatoses (2.4 ± 0.81, p = 0). The abovementioned results underscore dermatologists' familiarity with BCC dermoscopic images while highlighting the challenges associated with interpreting rigorous dermoscopic images. Moreover, by incorporating patient characteristics such as age, phototype, or immune state, the differential diagnosis list in each case was customized to include lesion types appropriate for each category, illustrating the AI's flexibility in evaluating diagnoses and highlighting its value as a resource for dermatologists.

2.
Medicina (Kaunas) ; 60(3)2024 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-38541097

RESUMO

Keratoacanthoma (KA) is a fast-growing skin tumor subtype that can be observed as a solitary lesion or rarely as multiple lesions in the context of rare genetic syndromes. Syndromes with multiple keratoacanthoma-like lesions have been documented as multiple self-healing squamous epithelioma (Ferguson-Smith syndrome), eruptive keratoacanthoma of Grzybowski, multiple familial keratoacanthoma of Witten and Zak Muir-Torre syndrome, and incontinentia pigmenti. The treatment approach of those entities is challenging due to the numerous lesions, the lesions' undefined nature, and the co-existence of other malignant skin tumors. Herein, we report a case of a 40-year-old woman who developed multiple treatment-resistant Ferguson-Smith-like keratoacanthomas with a co-existing large and ulcerated invasive squamous cell carcinoma and microcystic adnexal carcinoma on the scalp. Multiple keratoacanthomas on her extremities were successfully treated with oral acitretin (0.5 mg/kg/day) in combination with topical Fluorouracil (5-FU) 5%, while excision and plastic surgery restoration were performed to treat the ulcerated cancer lesion on her scalp. Due to the interesting nature of this rare syndrome, we performed a literature review including case reports and case series on multiple-KA-like lesions syndromes and focusing on diagnosis and therapy approaches. We also conducted a comparison of patient reports, which included assessing the clinical appearance of the lesions and evaluating the success and progress or the failure of various treatment approaches that were implemented.


Assuntos
Carcinoma de Células Escamosas , Ceratoacantoma , Neoplasias Cutâneas , Humanos , Feminino , Adulto , Ceratoacantoma/diagnóstico , Ceratoacantoma/tratamento farmacológico , Ceratoacantoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/tratamento farmacológico , Carcinoma de Células Escamosas/diagnóstico , Acitretina/uso terapêutico , Fluoruracila/uso terapêutico
3.
Vaccines (Basel) ; 12(2)2024 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-38400161

RESUMO

The diverse patient population and widespread vaccination in the COVD-19 era make vaccine-triggered episodes of psoriasis an ideal model of exposome research. This scenario explores the fine balance between protective and exacerbating factors, providing insights into the complex relationship between environmental exposure and psoriasis immunopathogenesis when a trigger appears, such as that of the hyperinflammatory state induced by the COVID-19 vaccine. Analyzing interactions between vaccine-induced phenomena and exposome parameters may provide clinically relevant information important for personalized medicine decision-making. We performed a literature review seeking patients with plaque psoriasis flares or new onset or change in plaque psoriasis into another psoriasis subtype, such as pustular or erythrodermic flare, focusing on the inner and external exposome traits of patients. We identified 71 patients with plaque psoriasis flares, 12 patients with new-onset psoriasis, and 17 with plaque psoriasis subtype change, and assessed the COVID-19 vaccine-induced plaque psoriasis in terms of clinical presentation, post-vaccination flare period and treatment status, as well as inner exposome parameters (genomics, oxidative stress, hormonal impact due to gender, aging, skin color) and external parameters (UV, infectomics). Novel data on psoriasis flares following COVID-19 vaccination are primarily obtained by combining exposome and vaccine-triggered episode features and characteristics and comparing them with similar psoriasis flares unrelated to COVID-19 vaccination.

4.
Dermatol Pract Concept ; 13(4 S1)2023 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-37874992

RESUMO

INTRODUCTION: Individuals with melanin-rich skin account for the majority of the world's population. However, literature data regarding dermatoscopic characteristics of skin cancer in skin of color (SoC) are scarce. The dermatoscopic characteristics of cutaneous tumors might differ among skin types due to heterogeneity in composition and pigmentation. OBJECTIVES: To summarize literature data on the dermatoscopic findings of skin neoplasms, according to the skin color and race. METHODS: The literature search was performed using PubMed database up to December 30, 2022 and was conducted with the use of terms referring to dermatoscopy, race (Caucasians, Hispanics, Asians, and Black/African) and skin cancer types (BCC, SCC, keratoacanthoma, Bowen's disease and melanoma). RESULTS: In total, 30 race-specific records were included. 9 SoC records for BCCs (2 BCC studies in Hispanics, 1 BCC study in Black individuals and 6 BCC studies in Asians ), 9 SoC records for SCCs ( 1 SCC study in Hispanics, 1 SCC study in Black individuals and 7 SCCs in Asian population) and 8 SoC records for melanoma (2 melanoma studies in Hispanics, 1 melanoma study in Blacks and 5 melanoma studies in Asians) were compared with 4 records that involved only Caucasian population, according to their participant section as well as with studies on dermatoscopy characteristics without focusing on race origins and phototype of the patient. In Hispanics and in both fair and dark-skinned Asians, BCCs were more often pigmented or at least with pigmented structures on dermoscopy. Squamous cell carcinoma (SCC) and keratoacanthoma were the least studied in SoC patients. Bowen's disease in SoC patients can be pigmented in a higher frequency compared to Caucasians, with glomerular vessels and a squamous surface being the most common dermatoscopic findings. The most frequent pattern of melanomas in SoC individuals were the parallel ridge pattern in palmoplantar region. CONCLUSION: Based on a review of studies including Caucasians, Hispanics, Asians and Blacks /Africans, SoC patients present with more frequent and unique dermatoscopy features of skin cancers.

5.
Vaccines (Basel) ; 11(8)2023 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-37631866

RESUMO

From the beginning of public vaccinations until the relaxation of COVID-19 measures, many case reports, case series and case-control studies have been published indicating cutaneous side effects of COVID-19 vaccination. Post-vaccination pustular eruption was reported as well, with a challenging differential diagnosis between pustular psoriasis, AGEP (acute generalized exanthematous pustulosis) and neutrophil pustular eruptions. We report a case of 56-year-old woman presented with acute generalized pustular flare up culminated 5 days after the second dose of BNT162b2(Pfizer) vaccination. She was diagnosed with pustular psoriasis flare and due to the regulating role of IL-1 in pustular psoriasis and in the cytokine storm observed in cases of COVID-19 postvaccination inflammation; we decided to treat the patient with an IL-1 antagonist, subcutaneous anakinra (100 mg daily) along with acitretin. One week later, after anakinra withdrawal, she presented a pustular psoriasis flare and a 7-day anakinra re-administration led to a satisfactory improvement in the skin lesions. We also reviewed the medical literature and found 28 case reports with pustular eruption after the COVID-19 vaccination. We compared the patients reported, regarding sex, age, number of doses, post-vaccination period and vaccine brand, and compared those results with our patient. Finally, as indicated by our case and other cases with similarly treated pustular eruptions. targeted therapy to this cytokine imbalance such as anakinra (IL-1) antagonist can improve the clinical course of the patient.

6.
Front Med (Lausanne) ; 10: 1203426, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37305120

RESUMO

Introduction: Many patients with chronic inflammatory dermatosis such as psoriasis usually ask about the safety of COVID-19 vaccination and if it would affect the course of their disease. Indeed, many case reports, case series and clinical studies, reporting psoriasis exacerbation following vaccination against COVID-19, were published during the pandemic. Also, many questions arise regarding the existence of exacerbating factors of these flare ups, including environmental triggers such as the insufficiency of vitamin D levels. Methods: This is a retrospective study that measures alterations in psoriasis activity and severity index (PASI) not exceeding 2 weeks after the first and second dose of COVID-19 vaccinations in the reported cases and assesses whether such changes have any association with patients' vitamin D levels. We retrospectively reviewed the case records of all patients with a documented flare up after COVID-19 vaccination in our department as well as those who did not, during a year. Results: Among them, we found 40 psoriasis patients that had reported vitamin D levels in the form of 25-hydroxy-vitamin D within 3 weeks after vaccination, including 23 with exacerbation and 17 without exacerbation. Performing χ2 and t-test controls for psoriasis patients with and without flare-ups, a statistically significant dependence emerged in the seasons of summer [χ2(1) = 5.507, p = 0.019], spring [χ2(1) = 11.429, p = 0.001] and in the categories of vitamin D [χ2(2) = 7.932, p = 0.019], while the mean value of vitamin D for psoriasis patients who did not have exacerbation (31.14 ± 6.67 ng/mL) is statistically higher [t(38) = 3.655, p = 0.001] than the corresponding value of psoriasis patients who had an exacerbation (23.43 ± 6.49 ng/mL). Discussion: This study indicates that psoriasis patients with insufficient (21-29 ng/mL) or inadequate (<20 ng/mL) levels of vitamin D are more prone to postvaccination aggravation of the disease while vaccination in summer, a period with the most extent photo-exposition, can be a protective factor.

7.
Antioxidants (Basel) ; 12(5)2023 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-37237973

RESUMO

UV radiation (UVR) is responsible for inducing both harmful and beneficial effects on skin health. Specifically, it has been reported to disrupt oxidant and antioxidant levels, leading to oxidative stress conditions in skin tissue. This phenomenon might trigger photo-carcinogenesis, resulting in melanoma, NMSC (non-melanoma skin cancer), such as BCC (basal cell carcinoma) and SCC (squamous cell carcinoma), and actinic keratosis. On the other hand, UVR is essential for the production of adequate vitamin D levels, a hormone with important antioxidant, anticancer and immunomodulatory properties. The exact mechanisms implicated in this two-fold action are not well understood, as there still no clear relation established between skin cancer and vitamin D status. Oxidative stress seems to be a neglected aspect of this complex relation, despite its role in both skin cancer development and vitamin D deficiency. Therefore, the aim of the present study is to examine the correlation between vitamin D and oxidative stress in skin cancer patients. A total of 100 subjects (25 with SCC, 26 with BCC, 23 with actinic keratosis, and 27 controls) were assessed in terms of 25-hydroxyvitamin D (25(OH) D) and redox markers such as thiobarbituric acid reactive substances (TBARS), protein carbonyls, total antioxidant capacity (TAC) in plasma, glutathione (GSH) levels and catalase activity in erythrocytes. The majority of our patients revealed low vitamin D levels; 37% of the subjects showed deficiency (<20 ng/mL) and 35% insufficiency (21-29 ng/mL). The mean 25(OH) D level of the NMSC patients (20.87 ng/mL) was also found to be significantly lower (p = 0.004) than that of the non-cancer patients (28.14 ng/mL). Furthermore, higher vitamin D levels were also correlated with lower oxidative stress (positive correlation with GSH, catalase activity TAC index and negative correlation with TBARS and CARBS indices). NMSC patients diagnosed with SCC showed lower catalase activity values compared to non-cancer patients (p < 0.001), with the lowest values occurring in patients with a chronic cancer diagnosis (p < 0.001) and vitamin D deficiency (p < 0.001). Higher GSH levels (p = 0.001) and lower TBARS levels (p = 0.016) were found in the control group compared to the NMSC group, and to patients with actinic keratosis. Higher levels of CARBS were observed in patients with SCC (p < 0.001). Non-cancer patients with vitamin D sufficiency showed higher TAC values compared to non-cancer patients with vitamin D deficiency (p = 0.023) and to NMSC patients (p = 0.036). The above-mentioned results indicate that NMSC patients reveal increased levels of oxidative damage markers compared to control levels, while vitamin D status plays a critical role in the determination of individuals' oxidative status.

8.
Neurol Sci ; 42(1): 175-182, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32592103

RESUMO

BACKGROUND: Genetic variability is considered to confer susceptibility to amyotrophic lateral sclerosis (ALS). Oxidative stress is a significant contributor to ALS-related neurodegeneration, and it is regulated by cytochromes P450 (CYPs), such as CYP1A2; these are responsible for the oxidative metabolism of both exogenous and endogenous substrates in the brain, subsequently impacting ALS. The function of CYP1A2 is largely affected by genetic variability; however, the impact of CYP1A2 polymorphisms in ALS remains underinvestigated. OBJECTIVE: This study aims to examine the possible association of ALS with the CYP1A2 rs762551 polymorphism, which codes for the high inducibility form of the enzyme. METHODS: One hundred and fifty-five patients with sporadic ALS and 155 healthy controls were genotyped for the CYP1A2 rs762551. Statistical testing for the association of CYP1A2 rs762551 with risk for ALS was performed using SNPstats. RESULTS: The CYP1A2 rs762551 C allele was associated with a decreased risk of ALS development. In the subgroup analysis according to the ALS site of onset, an association between CYP1A2 rs762551 and limb and bulbar onset of ALS was shown. Cox proportional-hazard regression analyses revealed a significant effect of the CYP1A2 rs762551 on the age of onset of ALS. CONCLUSIONS: Based on our results, a primarily potential link between the CYP1A2 rs762551 polymorphism and ALS risk could exist.


Assuntos
Esclerose Lateral Amiotrófica , Citocromo P-450 CYP1A2 , Esclerose Lateral Amiotrófica/genética , Citocromo P-450 CYP1A2/genética , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único/genética
9.
J Mol Neurosci ; 69(2): 343-350, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31267315

RESUMO

Α number of genetic variants have been associated with Alzheimer's disease (AD) susceptibility. Sec1 family domain-containing protein 1 (SCFD1) gene polymorphism rs10139154 has recently been implicated in the risk of developing amyotrophic lateral sclerosis (ALS). Similarities in the pathogenetic cascade of both diseases have also been described. The present study was designed to evaluate the possible contribution of SCFD1 rs10139154 to AD. A total of 327 patients with AD and an equal number of healthy controls were included in the study and genotyped for rs10139154. With logistic regression analyses, rs10139154 was examined for the association with the risk of developing AD. In the recessive mode, SCFD1 rs10139154 was associated with a decreased risk of developing AD (odds ratio (OR) (95% confidence interval (CI)) = 0.63 (0.40-0.97), p = 0.036). The current study provides preliminary evidence of the involvement of SCFD1 rs10139154 in the risk of developing AD.


Assuntos
Proteínas Adaptadoras de Transporte Vesicular/genética , Doença de Alzheimer/genética , Polimorfismo de Nucleotídeo Único , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino
10.
Brain Inj ; 33(7): 836-845, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31033358

RESUMO

Background: Α few genetic variants are associated with the outcome after traumatic brain injury (TBI). Integrins are glycoprotein receptors that play an important role in the integrity of microvasculature of the brain. Objective: To examine the role of integrin-AV (ITGAV) and integrin-B8 (ITGB8) tag single nucleotide polymorphisms (SNPs) on the outcome of patients with TBI. Methods: 363 participants were included and genotyped for 11 SNPs for ITGAV and 11 for ITGB8 gene. SNPs were tested for associations with the 6-month outcome after TBI, the presence of a hemorrhagic event after TBI, and the initial TBI severity after adjustment for TBI's main predictors. Results: The ITGAV rs3911239 CC and rs7596996 GG genotypes were associated with an unfavorable outcome after TBI, compared to the TT and AA genotypes, respectively. The ITGB8 rs10239099 CC and rs3757727 CC genotypes were associated with increased risk of any cerebral hemorrhagic event after TBI compared to GG and TT respectively. The ITGAV rs7589470 and rs7565633 were associated with the TBI's initial severity. Conclusions: ITGAV gene SNPs may be implicated in the outcome after TBI, as well as in the initial TBI severity, and also of ITGB8 gene SNPs in the risk of hemorrhagic event after a TBI.


Assuntos
Lesões Encefálicas Traumáticas/genética , Hemorragia Cerebral/genética , Genótipo , Integrina alfaV/genética , Cadeias beta de Integrinas/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Lesões Encefálicas Traumáticas/complicações , Hemorragia Cerebral/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
11.
Neurol Sci ; 40(6): 1237-1244, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30879219

RESUMO

BACKGROUND: Α number of genetic variants have been associated with amyotrophic lateral sclerosis (ALS). A recent study supports that rs591486 across the ERCC6L2 gene and exposure to pesticides seem to have a joint effect on the development of Parkinson's disease, a disease which shares a few common characteristics with ALS. OBJECTIVE: To detect a possible contribution of rs591486 ERCC6L2 to ALS. METHODS: A total of 155 patients with ALS and 155 healthy controls were included in the study and genotyped for rs591486. Using logistic regression analyses (crude and adjusted for age and sex), rs591486 was tested for association with ALS risk. Subgroup analysis based on ALS site of onset was also performed. Cox regression analysis was applied in order for the effect of ERCC6L2 rs591486 on ALS age of onset to be tested. RESULTS: Adjusted analysis showed that ERCC6L2 rs591486 was associated with an increased risk of ALS development, in dominant [odds ratio, OR (95% confidence interval, CI) 2.15 (1.04-4.46), p = 0.037] and over-dominant [OR (95%CI) = 1.91 (1.01-3.60), p = 0.043], modes. Subgroup analysis based on ALS site of onset revealed an association between ERCC6L2 rs591486 and ALS with limb onset. Results for Cox regression analysis indicated that G/A carriers had a lower age of ALS limb onset when compared to G/G carriers. CONCLUSIONS: The current study provides preliminary indication for an implication of ERCC6L2 rs591486 in ALS development, as a possible genetic risk factor. These results possibly suggest that oxidative stress may be the main contributor in the pathophysiology of ALS.


Assuntos
Esclerose Lateral Amiotrófica/genética , DNA Helicases/genética , Predisposição Genética para Doença , Idoso , Feminino , Estudos de Associação Genética , Genótipo , Grécia , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , População Branca/genética
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