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1.
Am J Med Genet A ; 194(3): e63446, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37915296

RESUMO

Autosomal recessive type 2 primary hypertrophic osteoarthropathy (PHOAR2) and chronic enteropathy associated with SLCO2A1 (CEAS) are two entities caused by pathogenic variants (PVs) in the SLCO2A1 gene that can coexist or occur independently from one another. We report two cases of PHOAR2 in Mexico with concomitant CEAS and conducted a review of the literature of the reported cases of PHOAR2 and/or CEAS to analyze the relationship between their genotype and phenotype presentation. The patients from our Institution with classical PHOAR2 phenotype and CEAS, harbored SLCO2A1 c.547G > A and c.1768del variants. We reviewed 232 cases, of which 86.6% were of Asian origin, and identified 109 different variants in SLCO2A1. Intron 7, exon 13, and exon 4 were predominantly affected. The two most common PVs were c.940 + 1G > A and c.1807C > T. We found a statistically significant association between SLCO2A1 variants located in intron 7, exons 12, and 13 and the development of CEAS. Missense variants were more frequent in isolated PHOAR2, while a greater proportion of protein-truncating variants (PTVs) were found in CEAS. Further investigation is imperative to elucidate the underlying pathophysiological mechanisms associated with CEAS, thereby facilitating the identification of effective therapeutic interventions.


Assuntos
Transportadores de Ânions Orgânicos , Osteoartropatia Hipertrófica Primária , Humanos , Osteoartropatia Hipertrófica Primária/diagnóstico , Osteoartropatia Hipertrófica Primária/genética , Transportadores de Ânions Orgânicos/genética , Genótipo , Fenótipo , Mutação de Sentido Incorreto
2.
J Wound Care ; 33(6): 451-460, 2024 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-38843014

RESUMO

OBJECTIVE: To explore the epidemiology and risk factors associated with the development of pressure ulcers (PUs) in patients receiving prone positioning (PP) ventilatory therapy; to compare the inflammatory status of patients who develop PUs with those who do not; and to describe the experience and useful findings that have allowed us to improve the management of these patients to reduce the incidence of PUs. METHOD: An observational, descriptive and longitudinal study was conducted, where sociodemographic and laboratory data were collected from patients who were hospitalised and required PP ventilatory therapy in critical care areas (CCA) during the months of May-October 2020. RESULTS: From the total number of patients who required PP during their CCA stay (n=240), 202 (84.2%) developed a PU. The four most frequent areas where a PU appeared were: the head and neck (n=115); the pinna (n=21); the torso (n=21); and the lower limbs (n=21). Patients who developed PU were more frequently males with higher initial levels of creatinine phosphokinase and ferritin. The incidence for each month of follow-up decreased from 8.3% to 5.8%. CONCLUSION: Regardless of the intervention, a multidisciplinary approach is required to optimise the prevention and treatment of these wounds. While PUs are often the result of other medical conditions or poor health status in general, the vast majority of PUs are avoidable.


Assuntos
Posicionamento do Paciente , Úlcera por Pressão , Humanos , Úlcera por Pressão/epidemiologia , Úlcera por Pressão/prevenção & controle , Úlcera por Pressão/etiologia , Masculino , Feminino , Decúbito Ventral , Pessoa de Meia-Idade , Idoso , Fatores de Risco , Estudos Longitudinais , Incidência , COVID-19 , Idoso de 80 Anos ou mais , Adulto , Pandemias
3.
AIDS Res Ther ; 20(1): 85, 2023 11 27.
Artigo em Inglês | MEDLINE | ID: mdl-38012656

RESUMO

BACKGROUND: This case series of 5 patients with severely necrotic mpox highlights the predominantly necrotic nature of lesions seen in cases of severe mpox as shown by skin and lung biopsy, as well as the extensive dissemination of the infection, as shown by polymerase chain reaction (PCR) assessment in different body sites. CASE PRESENTATIONS: Patients were male, the median age was 37, all lived with HIV (2 previously undiagnosed), the median CD4+ cell count was 106 cells/mm3, and 2/5 were not receiving antiretroviral treatment. The most common complication was soft tissue infection. Skin and lung biopsies showed extensive areas of necrosis. Mpox PCR was positive in various sites, including skin, urine, serum, and cerebrospinal fluid. The initiation of antiretroviral treatment, worsened the disease, like that seen in immune reconstitution syndrome. Three patients died due to multiple organ failure, presumably associated with mpox since coinfections and opportunistic pathogens were ruled out. CONCLUSIONS: Severely necrotic manifestations of mpox in people living with advanced and untreated HIV are related to adverse outcomes.


Assuntos
Infecções por HIV , Mpox , Humanos , Masculino , Adulto , Feminino , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológico , Mpox/complicações , Mpox/tratamento farmacológico , Antirretrovirais/uso terapêutico , Contagem de Linfócito CD4 , Necrose/induzido quimicamente , Necrose/complicações , Necrose/tratamento farmacológico
4.
Australas J Dermatol ; 64(3): 354-358, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37264566

RESUMO

BACKGROUND: Chronic pruritus is common in patients with diabetes though its pathophysiology is unknown and difficult to pinpoint given the multi-system manifestations of diabetes. Herein, we aim to evaluate the severity of chronic itch in patients with diabetes and its association with glycaemic control, microvascular complications and quality of life. METHODS: We conducted a retrospective study of 105 adults with diabetes evaluated by a dermatologist at a tertiary care centre in Mexico City. Degree of chronic pruritus and its impact on quality of life as well as laboratory, clinical and demographic data were collected. Patients without chronic pruritus (n = 62) were compared to those with chronic pruritus (n = 43). The latter cohort was further stratified by itch severity, and characteristics of their itch were quantified. RESULTS: Neuropathy and loss of protective sensation were more common in patients with chronic pruritus, compared to those without chronic pruritus (p = 0.007 and p = 0.001, respectively). Anxiety and depression were more common in individuals with chronic pruritus (p = 0.009), and these group reported higher effect of pruritus on their quality of life (p < 0.0001). The most common sites of itch were the head, back and arms. Among patients with chronic itch, increasing itch severity was associated with decreasing eGFR (p = 0.080). CONCLUSIONS: The underlying cause of chronic itch in patients with diabetes is likely multifactorial and owing to microvascular complications such as neuropathy and nephropathy. Better understanding of the causes of itch in these patients can allow for more targeted treatment, leading to improved quality of life.


Assuntos
Diabetes Mellitus , Doenças do Sistema Nervoso Periférico , Adulto , Humanos , Qualidade de Vida , Estudos Retrospectivos , Prurido/tratamento farmacológico , Índice de Gravidade de Doença
5.
Chem Res Toxicol ; 34(7): 1738-1748, 2021 07 19.
Artigo em Inglês | MEDLINE | ID: mdl-34142820

RESUMO

Cutaneous drug-induced reactions are immune-mediated responses that can lead to life-threatening diseases such as drug reaction with eosinophilia and systemic symptoms (DRESS), Stevens-Johnson syndrome, and toxic epidermal necrolysis, collectively known as severe cutaneous adverse reactions (SCARs). Unfortunately, they cannot be predicted during drug development, and, at present, a prognostic biomarker is not available nor are validated in vitro assays for diagnosis. Thus, by using proteomic and microarray miRNA analysis, the cargo of extracellular vesicles obtained from SCARs patients was analyzed and correlated with the severity of the reaction. Confirmatory assays using Western blot and qRT-PCR were performed to validate findings, and bioinformatic tools were used to establish the correlation between protein and miRNAs expression between groups. The proteomic analysis showed an increase in the amount of pro-inflammatory proteins, von Willebrand factor, and C-reactive protein and a decrease in anti-inflammatory and protective proteins in the SCARs group compared with the control group. Additionally, histone protein H2A was enriched in DRESS patients. APO1 and SERPINA4 proteins, highly increased in the control group but absent in the SCARs group, are the target of several overexpressed miRNAs, suggesting that the regulation of these proteins might involve gene silencing and protein repressing mechanisms in the severe patients. According with previous reports showing its presence in plasma and T-cells, microRNA miR-18 was upregulated in extracellular vesicles obtained from the most severe patients. Determination of the unique cargo associated with different disease conditions will help to understand the pathophysiology of these complex reactions and might help to develop novel biomarkers for life-threatening iatrogenic cutaneous disease.


Assuntos
Toxidermias/genética , Vesículas Extracelulares/genética , MicroRNAs/genética , Toxidermias/diagnóstico , Vesículas Extracelulares/química , Vesículas Extracelulares/patologia , Humanos , Proteoma/análise , Proteoma/genética , Proteômica , Transcriptoma
6.
Clin Exp Rheumatol ; 39(3): 463-470, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32573409

RESUMO

OBJECTIVES: Cutaneous involvement is an extra-articular manifestation of rheumatoid arthritis (RA). This includes nail abnormalities, which are often overlooked. We described nail findings in RA patients currently attending an early arthritis cohort (n=145), and associated them with disease activity and/or damage, as well as patient-reported outcomes. METHODS: A standardised nail examination was performed in 122 patients (84.1% of the cohort), concomitant to the rheumatic assessment. Disability, quality of life and perceived nail-related health were also assessed. Nail findings and their location were recorded and classified according to standardised definitions. Logistic and linear regression models were used to investigate predictors of nail findings and to identify the impact of toenail findings on disability, which was evaluated with the HAQ. Patients consented to participate. RESULTS: Patients were primarily middle-aged females, with median follow-up of 9 years, and had disease under control. Most patients (62.3%) had at least one nail finding and these patients scored lower their nail-related health. The median (IQR) of findings/abnormalities per patient was 3 (2-5) and the number of nails affected per patient was 10 (2-12). Age (OR: 1.04, 95%CI: 1.007-1.074) and erosive disease (OR: 2.26, 95%CI: 1.1-5.1) were associated with nail findings. Toenail involvement was consistently associated with HAQ score out of normal range (OR=3.4, 95%CI=1.24-9.35, p=0.02). There was a linear association between the number of toenails affected and the HAQ score. CONCLUSIONS: Nail abnormalities are common and heterogeneous findings in RA patients; they are associated with erosive damage and impact disability.


Assuntos
Artrite Reumatoide , Unhas Malformadas , Artrite Reumatoide/diagnóstico por imagem , Artrite Reumatoide/epidemiologia , Estudos Transversais , Avaliação da Deficiência , Feminino , Humanos , Pessoa de Meia-Idade , Unhas/diagnóstico por imagem , Unhas Malformadas/diagnóstico por imagem , Unhas Malformadas/epidemiologia , Unhas Malformadas/etiologia , Qualidade de Vida , Índice de Gravidade de Doença
7.
Oncology (Williston Park) ; 35(5): 272-276, 2021 05 15.
Artigo em Inglês | MEDLINE | ID: mdl-33998784

RESUMO

A man, age 45 years, was diagnosed with intermediate-risk stage IV clear cell renal carcinoma (lung and lymph node metastases). He was prescribed first-line systemic treatment with sunitinib (Sutent) 50 mg per day (each cycle: 4 weeks on, 2 weeks off). Upon day 22 of his second sunitinib cycle, he came to the oncology clinic complaining of difficulty walking due to bilateral sole pain. He described initial tingling sensations, which then became burning and painful, with symmetrical erythema and edema of the soles, without blisters. These turned into painful plaques with yellowish discoloration and hyperkeratosis on pressure-bearing areas. He denied fever or other symptoms. The pain limited his instrumental activities of daily living, but not his self-care activities of daily living. Total body skin examination disclosed hyperkeratotic plaques on the undersurface of the great toes and heels of both feet, predominantly at sites of pressure; no blisters, crusts, ulcers, or fissures were found. No relevant findings were found upon physical examination of his hands, mucosae, and scalp. A diagnosis of grade 2 hand-foot skin reaction (HFSR) was made.


Assuntos
Antineoplásicos/efeitos adversos , Carcinoma de Células Renais/tratamento farmacológico , Síndrome Mão-Pé/patologia , Neoplasias Renais/tratamento farmacológico , Sunitinibe/efeitos adversos , Corticosteroides/uso terapêutico , Antineoplásicos/uso terapêutico , Síndrome Mão-Pé/tratamento farmacológico , Humanos , Ceratolíticos/uso terapêutico , Masculino , Pessoa de Meia-Idade , Sunitinibe/uso terapêutico
8.
Ann Vasc Surg ; 77: 350.e13-350.e17, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34437968

RESUMO

Acroangiodermatitis (AAD) is often seen in association with various vascular anomalies such as venous insufficiency, vascular syndromes, and conditions associated with thrombosis. This is the first case reported in the literature associated with arteriovenous fistula stenosis in a patient with chronic kidney disease on hemodialysis. This case is being described for its rarity and to familiarize the clinicians with this unusual complication, especially, to prevent them from thinking of this condition as an infectious complication. It is essential to recognize the uniqueness of the pathophysiology of this disease and to do a clear distinction with that of a venous ulcer. With this work we also aim to help health practitioners with proper management of the condition. As we've seen, surgical treatment in appropriately selected cases corrects the reflux of the venous system and successfully improves the appearance of the verrucous lesion. Our patient was successfully treated by correcting the arteriovenous fistula stenosis with near-complete subsidence of the verrucous lesion within days of the procedure. Acroangiodermatitis management must be conducted with a multidisciplinary approach (dermatology, vascular surgery, and internal medicine). It is essential the comprehensive management of these patients, to ensure prompt recovery and avoid chronic effects, as well as to guarantee the quality of life in the future.


Assuntos
Acrodermatite/etiologia , Derivação Arteriovenosa Cirúrgica/efeitos adversos , Oclusão de Enxerto Vascular/etiologia , Dermatoses da Mão/etiologia , Diálise Renal , Insuficiência Renal Crônica/terapia , Acrodermatite/diagnóstico , Adulto , Diagnóstico Diferencial , Oclusão de Enxerto Vascular/diagnóstico , Oclusão de Enxerto Vascular/fisiopatologia , Oclusão de Enxerto Vascular/cirurgia , Dermatoses da Mão/diagnóstico , Hemodinâmica , Humanos , Masculino , Insuficiência Renal Crônica/diagnóstico , Reoperação , Dermatopatias Infecciosas/diagnóstico , Infecções dos Tecidos Moles/diagnóstico , Resultado do Tratamento , Cicatrização
9.
Pediatr Dermatol ; 38(3): 555-560, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33738847

RESUMO

Congenital malalignment of the great toenail, or ungual malalignment, is a rarely recognized disorder. It is characterized by lateral deviation of the longitudinal axis of the nail plate with respect to the distal phalanx, and if untreated, complications in the late teens and adulthood may arise. In this study, we have reviewed conservative and definitive treatments for this disorder.


Assuntos
Unhas Malformadas , Unhas , Adolescente , Adulto , Extremidades , Humanos , Unhas Malformadas/diagnóstico , Unhas Malformadas/etiologia , Unhas Malformadas/terapia , Dedos do Pé
10.
Int Wound J ; 17(1): 167-173, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31713315

RESUMO

The aim of this study was to translate into Mexican Spanish, cross-culturally adapt and validate the wound-specific quality of life (QoL) instrument Cardiff wound impact schedule (CWIS) for Mexican patients. This instrument went through the full linguistic translation process based on the guidelines of Beaton et al (Beaton DE, Bombardier C, Guillemin F, Ferraz MB, Guidelines for the process of cross-cultural adaptation of self-report measures, Spine Phila Pa, 1976, 2000, 318-391). We included a total of 500 patients with chronic leg ulcers. The expert committee evaluated the Face validity and they agreed unanimously that the instrument was adequate to assess the QoL of these patients, covering all relevant areas presented by them. The content validity index obtained was of 0.95. The construct validity demonstrated moderately significant correlations between related sub-scales of CWIS and SF-36 (P = .010 to P < .001). The instrument was able to discriminate between healed and unhealed ulcers. The instrument obtained an overall Cronbach's alpha of .952, corresponding to an excellent internal consistency (.903-.771 alpha range for domains). The CWIS can be appropriately used to assess the health-related QoL of Mexican patients with chronic leg ulcers.


Assuntos
Comparação Transcultural , Úlcera da Perna/psicologia , Úlcera da Perna/terapia , Satisfação do Paciente , Qualidade de Vida/psicologia , Avaliação de Sintomas/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Inquéritos e Questionários , Traduções , Adulto Jovem
11.
Chem Res Toxicol ; 31(6): 454-461, 2018 06 18.
Artigo em Inglês | MEDLINE | ID: mdl-29644860

RESUMO

Dysregulation in the expression of microRNAs (miRNAs), single-stranded RNAs which regulate gene expression, has been associated with diseases such as Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN), although their cellular origin has not been explored. Thus, the focus of this work was to study expression patterns of reported miRNAs involved in T-cell activation following drug-specific stimulation in peripheral blood mononuclear cells (PBMCs) and drug-specific CD4+ T-cell clones (TCC) from patients with different cutaneous manifestations of delayed-type drug hypersensitivity reactions. CD4+ T-cells from hypersensitive patients were stimulated to proliferate, secreted cytokines (IFN-γ and IL-22), cytolytic molecules (Granzyme B) and up-regulate miRNAs 24 to 48 h after drug exposure. Carbamazepine-specific CD4+ T-cells that proliferated to the greatest extent and secreted the highest levels of IFN-γ showed an up-regulation of miR-18a and miR-155. In contrast, piperacillin-specific CD4+ T-cells displaying high expression of miR-9 and miR-21 showed an association with the extent of proliferation, but not IFN-γ secretion. MiR-155 up-regulation was detected in PBMCs from all hypersensitive patients 24 h after drug treatment, while miR-18a and miR-21 expression was up-regulated after 48 h. These findings demonstrate that miRNAs are expressed during drug-specific CD4+ T-cell activation and shows a new regulation path for drug hypersensitivity reactions.


Assuntos
Linfócitos T CD4-Positivos/efeitos dos fármacos , MicroRNAs/genética , Regulação para Cima , Adulto , Linfócitos T CD4-Positivos/metabolismo , Carbamazepina/farmacologia , Citocinas/metabolismo , Hipersensibilidade a Drogas/genética , Feminino , Humanos , Lamotrigina/farmacologia , Ativação Linfocitária , Masculino , Pessoa de Meia-Idade , Piperacilina/farmacologia , Sulfametoxazol/farmacologia
12.
Am J Dermatopathol ; 40(1): 52-56, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28746054

RESUMO

The cutaneous and oral lesions related to nutritional deficiencies are scarcely reported. Micronutrient deficiencies may significantly affect mouth mucosa and skin, causing great morbidity. We report an extraordinary case with detailed clinical and microscopic findings affecting the oral cavity and skin. Physicians must be familiar with these manifestations to suspect the diagnosis.


Assuntos
Desnutrição/complicações , Obesidade/complicações , Úlceras Orais/etiologia , Dermatopatias/etiologia , Humanos , Masculino , Úlceras Orais/patologia , Dermatopatias/patologia , Adulto Jovem
17.
Am J Dermatopathol ; 39(12): 935-942, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29019823

RESUMO

Transient reactive aquagenic pseudokeratoderma is characterized by transient whitish and translucent papules after water exposure in palms and soles. We report 5 additional cases and their histopathologic features. Patient 5 showed a topography that had not been reported before; this demonstrates that it is not an exclusive condition of palms and soles. Patient 2 presents very subtle clinical findings, making difficult the diagnosis. And the other 3 patients have a typical presentation. Transient reactive aquagenic pseudokeratoderma has heterogeneous clinical features; in some cases, histopathologic findings, although subtle, help to confirm the diagnosis.


Assuntos
Dermatoses do Pé/patologia , Ceratose/congênito , Adolescente , Idoso , Criança , Feminino , Humanos , Ceratose/patologia , Masculino , Adulto Jovem
18.
Pediatr Dermatol ; 34(4): e164-e167, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28543434

RESUMO

Disabling pansclerotic morphea of childhood (DPMC) is a rare disorder that confers a risk of developing ulcer-related squamous cell carcinoma (SCC). We describe a young man with long-standing DPMC and SCC with lung metastasis.


Assuntos
Carcinoma de Células Escamosas/patologia , Neoplasias Pulmonares/secundário , Esclerodermia Localizada/complicações , Adulto , Evolução Fatal , Humanos , Masculino , Tomografia Computadorizada por Raios X
19.
Int Wound J ; 14(3): 546-554, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27488810

RESUMO

Foreign modelling agent reactions (FMAR) are the result of the injection of unapproved high-viscosity fluids with the purpose of cosmetic body modelling. Its consequences lead to ulceration, disfigurement and even death, and it has reached epidemic proportions in several regions of the world. We describe a series of patients treated for FMARs in a specialised wound care centre and a thorough review of the literature. A retrospective chart review was performed from January 1999 to September 2015 of patients who had been injected with non-medical foreign agents and who developed cutaneous ulceration needing treatment at the dermatology wound care centre. This study involved 23 patients whose ages ranged from 22 to 67 years with higher proportion of women and homosexual men. The most commonly injected sites were the buttocks (38·5%), legs (18%), thighs (15·4%) and breasts (11·8%). Mineral oil (39%) and other unknown substances (30·4%) were the most commonly injected. The latency period ranged from 1 week to 17 years. Complications included several skin changes such as sclerosis and ulceration as well as systemic complications. FMAR is a severe syndrome that may lead to deadly complications, and is still very common in Latin America.


Assuntos
Cosméticos/efeitos adversos , Corpos Estranhos/imunologia , Reação a Corpo Estranho/complicações , Óleo Mineral/efeitos adversos , Úlcera Cutânea/etiologia , Úlcera Cutânea/terapia , Adulto , Idoso , Mama/fisiopatologia , Nádegas/fisiopatologia , Cosméticos/administração & dosagem , Feminino , Homossexualidade Masculina/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Óleo Mineral/administração & dosagem , Estudos Retrospectivos , Pele/fisiopatologia , Adulto Jovem
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