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3.
Rev. cienc. salud (Bogotá) ; 21(3): 1-17, 20230901.
Artigo em Inglês | LILACS | ID: biblio-1531100

RESUMO

Introduction: Currently, the concept of the quality of life (QoL) is key to defining health policies aimed at the population with intellectual disability (id). Most QoL studies in this field have been limited to people with id with higher functioning levels. This has resulted in a little interest in evaluating QoL interventions among people with id and a high need for supports, affecting their general well-being and conditioning the care they received. This study seeks to explore the QoL levels of people with severe and profound id and to examine their differences based on some variables. Material and methods: From a quantita-tive-descriptive approach, the San Martín scale, based on the eight-dimensional QoL Model of Schalock and Verdugo, has been used in 201 Chilean people with severe or profound id ages between 60 and 86 years. Results: Data show how most participants have low QoL levels, with self-determination and social inclusion being the most affected dimensions. When comparing the QoL score with sociodemographic variables, differences in the level of support needs and the type of center they are used are observed. Conclusion: Low QoL levels should be carefully considered because of a notable risk that they lead to greater vulnerability situations for this group. Likewise, a higher frequency in the support offered should be advocated, and spaces in which these people operate should be brought as close as possible to the community.


Introducción: actualmente, el concepto de calidad de vida (CdV) es clave para definir políticas de salud dirigidas a personas con discapacidad intelectual (di). La mayoría de los estudios sobre CdV en este campo se han limitado a personas con di más leves. Esto ha derivado en un escaso interés por evaluar las intervenciones sobre CdV en personas con di y grandes necesidades de apoyo, que afectan su bienestar general y condicionan la atención recibida. Este estudio busca explorar los índices de CdV de perso-nas con di severa y profunda, y examinar sus diferencias según distintas variables. Material y métodos: desde un enfoque cuantitativo-descriptivo se ha aplicado la Escala San Martín, basada en el Modelo de CdV de ocho dimensiones de Schalock y Verdugo, a 201 chilenos con di severa o profunda entre los 60 y 86 años. Resultados: los datos muestran cómo la mayoría de los participantes tienen bajos índices de CdV, de los cuales la autodeterminación y la inclusión social son las dimensiones más afectadas. Al comparar la puntuación de CdV con algunas variables sociodemográficas, surgen diferencias según la necesidad de apoyo de los participantes y el tipo de centro del que son usuarios. Conclusión: es necesario prestar atención a los bajos índices de CdV, porque existe un riesgo notable de que conduzcan a mayores situaciones de vulnerabilidad para este grupo. Asimismo, conviene abogar por una mayor frecuencia en los apoyos ofrecidos y acercar lo más posible a la comunidad los espacios en los que se desenvuelven estas personas.


Introdução: atualmente, o conceito de qualidade de vida (QdV) é fundamental para a definição de polí-ticas de saúde voltadas às pessoas com deficiência intelectual (di). A maioria dos estudos de QdV neste campo foi limitada a pessoas com di mais leve. Isso gerou pouco interesse em avaliar intervenções de QdV em pessoas com di e altas necessidades de suporte, afetando seu bem-estar geral e condicionando os cuidados recebidos. Este estudo busca explorar os níveis de QdV de pessoas com di severa e profunda e examinar suas diferenças de acordo com diferentes variáveis. Material e métodos: a partir de uma abordagem quantitativo-descritiva, a Escala de San Martín, baseada no modelo de QdV de Schalock e Verdugo em oito dimensões, foi aplicada a 201 chilenos com di severa ou profunda entre 60 e 86 anos de idade. Resultados: os dados mostram como a maioria dos participantes apresenta baixos níveis de QdV, sendo a autodeterminação e a inclusão social as dimensões mais afetadas. Ao comparar o escore de QdV com algumas variáveis sociodemográficas, surgem diferenças de acordo com o nível de necessidade de apoio dos participantes e o tipo de centro de que são usuários. Conclusão: deve-se atentar para os baixos níveis de QV, pois há um risco notável de que levem a maiores situações de vulnerabilidade para esse grupo. Da mesma forma, é aconselhável advogar por uma maior frequência no apoio oferecido e aproximar os espaços de atuação dessas pessoas o mais próximo possível da comunidade.


Assuntos
Humanos , Idoso , Idoso de 80 Anos ou mais , Idoso Fragilizado
4.
Dermatol Ther ; 35(9): e15709, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35811413

RESUMO

The appearance of morphea after vaccination has been reported to date as single and deep lesions that appear exactly at the site of the skin puncture. It was therefore postulated that the origin could be the trauma related to the injection. The aim of this article is to review the various hypotheses offered in the published literature about generalized morphea following vaccination. We present two cases of generalized morphea after COVID-19 vaccination and review the published literature on immune-related cutaneous reactions. As previously reported, antigenic cross-reactivity between vaccine spike proteins and human tissues could cause certain immune-mediated diseases, including generalized morphea. Herein we report two cases of generalized morphea probably induced by the COVID-19 vaccine, given the temporal relationship with its administration. In summary, environmental factors such as vaccination against SARS-COV-2 could induce an immune system dysregulation, which would have an important role in the pathogenesis of morphea. We present two cases of generalized morphea probably induced by the COVID-19 vaccine, given the time elapsed between vaccination and the onset of the skin lesions.


Assuntos
COVID-19 , Esclerodermia Localizada , Escleroderma Sistêmico , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Humanos , SARS-CoV-2 , Esclerodermia Localizada/induzido quimicamente , Vacinação/efeitos adversos
5.
J Dermatol ; 48(3): 380-384, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33216389

RESUMO

Colony-stimulating factor 1 receptor (CSF1R) inhibitors represent a new class of immune-modulatory drugs, mostly investigated in clinical trials in different malignant neoplasms. Four patients, diagnosed with recurrent or advanced malignant neoplasm and treated with a combination of anti-programmed death ligand 1 and anti-CSF1R monoclonal antibodies, developed an asymptomatic cutaneous eruption characterized by an ill-defined pseudoedematous to waxy diffuse infiltration with a reticular cobblestone-like pattern. Histopathological examination revealed diffuse mucin deposition involving the superficial and mid-dermis with fragmented and scattered elastic fibers. The exact pathogenic mechanisms implicated in the development of mucin deposits in patients treated with CSF1R inhibitors remain to be elucidated. A reduced degradation and clearance of components of the extracellular matrix by macrophages secondary to CSF1 pathway inhibition may be hypothesized. Shredding and fragmentation of elastic fibers may be a result of the increased accumulation of mucopolysaccharides. This observation illustrates the new spectrum of skin-related toxicities secondary to new targeting therapies. This may contribute to a better understanding of the underlying pathogenic mechanisms in skin diseases characterized by a persistent dermal glycosaminoglycan deposition.


Assuntos
Mucinoses , Preparações Farmacêuticas , Dermatopatias , Anticorpos Monoclonais/efeitos adversos , Humanos , Fator Estimulador de Colônias de Macrófagos
14.
J Am Acad Dermatol ; 72(1): 151-8.e1, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25455610

RESUMO

BACKGROUND: Sturge-Weber syndrome (SWS) is characterized by port-wine stains (PWS) affecting the face, eyes, and central nervous system. Pulsed dye laser (PDL) is the standard treatment for PWS. Unfortunately, recurrence is frequent because of reformation and reperfusion of blood vessels. OBJECTIVE: We sought to assess the clinical efficacy of topical rapamycin combined with PDL in PWS of patients with SWS. METHODS: We conducted a phase II, randomized, double-blind, intraindividual placebo-controlled, clinical trial. We recruited 23 patients with SWS and facial PWS (12 women; median age 33 years, age range 17-65 years) from the University Clinic of Navarra, Spain. Four interventions were evaluated: placebo, PDL + placebo, rapamycin, and PDL + rapamycin. Clinical and histologic responses were evaluated using a chromatographic computerized system, spectrometry, and histologic analyses at 6, 12, and 18 weeks after the intervention. RESULTS: PDL + rapamycin yielded the lowest digital photographic image score and the lowest percentage of vessels in histologic analysis, and showed a statistically significant improvement compared with the other interventions. The treatment was generally well tolerated. LIMITATIONS: PDL was only applied to the lateral parts of the PWS area. CONCLUSION: Topical rapamycin associated with PDL seems to be an effective treatment for PWS in patients with SWS.


Assuntos
Capilares/anormalidades , Imunossupressores/administração & dosagem , Lasers de Corante/uso terapêutico , Sirolimo/administração & dosagem , Malformações Vasculares/terapia , Administração Tópica , Adolescente , Adulto , Idoso , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mancha Vinho do Porto/complicações , Síndrome de Sturge-Weber/complicações , Malformações Vasculares/etiologia , Adulto Jovem
17.
Exp Dermatol ; 22(12): 838-9, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24118415

RESUMO

Pachyonychia congenita is a rare, autosomal dominant genetic disease characterized by painful palmoplantar keratoderma and hypertrophic nail dystrophy. This disorder is caused by mutations in any one of five cytoskeletal keratin proteins, K6a, K6b, K6c, K16 and K17. Here, we describe a new p.Leu421Pro (c.1262T>C) mutation in the highly conserved helix termination motif of K16 in a large Spanish family. Bioinformatic analyses as well as previous descriptions in the literature of homologous mutations in other keratin-coding genes show that this mutation is probably causative of the disease.


Assuntos
Queratina-16/genética , Queratina-16/metabolismo , Mutação , Paquioníquia Congênita/genética , Biópsia , Biologia Computacional , Saúde da Família , Feminino , Predisposição Genética para Doença , Heterozigoto , Humanos , Ceratodermia Palmar e Plantar/genética , Masculino , Mutação de Sentido Incorreto , Linhagem , Fenótipo , Espanha
18.
J Cosmet Laser Ther ; 15(4): 207-9, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23384078

RESUMO

Partial unilateral lentiginosis (PUL) is a rare pigmentary disorder characterized by multiple lentigines grouped within an area of normal skin, often in a segmental pattern and appearing at birth or in childhood. There is no established standard treatment for this condition. We present two cases of PUL succesfully treated with alexandrite Q-switched laser. In our cases, this laser proved to be a safe and effective treatment for cosmetically disfiguring lentigines. Special precautions are needed when treating dark-skinned patients because side effects are more likely. We propose that this modality be considered in the treatment of this rare disorder.


Assuntos
Lasers de Estado Sólido/uso terapêutico , Lentigo/cirurgia , Adolescente , Berílio , Face , Feminino , Humanos , Resultado do Tratamento
19.
J Am Acad Dermatol ; 65(5): 893-906; quiz 907-8, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22000870

RESUMO

There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients.


Assuntos
Perna (Membro)/irrigação sanguínea , Malformações Vasculares/diagnóstico , Adulto , Algoritmos , Criança , Tumor Glômico/diagnóstico , Hemangioma Capilar/congênito , Hemangioma Capilar/diagnóstico , Hemangioma Capilar/epidemiologia , Hemangioma Cavernoso/congênito , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/epidemiologia , Humanos , Hipertrofia , Recém-Nascido , Síndrome de Klippel-Trenaunay-Weber/diagnóstico , Síndrome de Klippel-Trenaunay-Weber/epidemiologia , Anormalidades Linfáticas/diagnóstico , Mancha Vinho do Porto/diagnóstico , Mancha Vinho do Porto/epidemiologia , Síndrome de Proteu/diagnóstico , Anormalidades da Pele/diagnóstico , Anormalidades da Pele/terapia , Síndrome , Malformações Vasculares/classificação , Malformações Vasculares/epidemiologia , Malformações Vasculares/terapia
20.
J Am Acad Dermatol ; 65(5): 909-23; quiz 924, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22000871

RESUMO

At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. Extensive vascular malformations are often more complex than they appear and require a multidisciplinary therapeutic approach. Vascular malformations may be associated with underlying disease or systemic anomalies. Part II of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limb highlights the systemic repercussions [corrected] (bone, articular, visceral, and hematologic involvement), diagnosis, and treatment of these lesions.


Assuntos
Perna (Membro)/irrigação sanguínea , Malformações Vasculares/diagnóstico , Malformações Vasculares/terapia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/terapia , Adulto , Inibidores da Angiogênese/uso terapêutico , Atrofia , Transtornos da Coagulação Sanguínea/etiologia , Doenças Ósseas/etiologia , Doenças Ósseas/cirurgia , Criança , Terapia Combinada , Diagnóstico por Imagem , Feminino , Doenças Urogenitais Femininas/etiologia , Humanos , Recém-Nascido , Síndrome de Klippel-Trenaunay-Weber/diagnóstico , Síndrome de Klippel-Trenaunay-Weber/epidemiologia , Síndrome de Klippel-Trenaunay-Weber/terapia , Desigualdade de Membros Inferiores/etiologia , Desigualdade de Membros Inferiores/cirurgia , Masculino , Doenças Urogenitais Masculinas/etiologia , Mancha Vinho do Porto/diagnóstico , Mancha Vinho do Porto/epidemiologia , Qualidade de Vida , Anormalidades da Pele/diagnóstico , Anormalidades da Pele/cirurgia , Anormalidades da Pele/terapia , Malformações Vasculares/classificação , Malformações Vasculares/epidemiologia , Malformações Vasculares/cirurgia
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