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1.
Pediatr Allergy Immunol ; 32(8): 1796-1803, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34097760

RESUMO

BACKGROUND: Inborn errors of immunity (IEIs) are a group of conditions affecting immune system development and function. Due to their clinical heterogeneity and lack of provider awareness, patients suffer from long diagnostic delays that increase morbidity and mortality. Next-generation sequencing facilitates earlier diagnosis and treatment of IEIs, but too often patients are unable to see the benefit of this technology due to gaps in providers' knowledge regarding which patients to test and barriers to accessing sequencing. METHODS: Here, we provide detailed clinical phenotyping and describe the impact of genetic sequencing on a cohort of 43 patients with monogenic IEIs seen in a tertiary care center from 2014 to 2019. Data were abstracted from a chart review, and a panel of clinical immunologists were consulted on the impact of genetic sequencing on their patients. RESULTS: We found that our patients had significant diagnostic delays, averaging 3.3 years; had diverse manifestations of immune system dysfunction; and had demonstrated highly complex medical needs, with on average 7.9 subspecialties involved in their care and 4.9 hospitalizations prior to definitive treatment. Our results also demonstrate the benefits of genetic testing, as it provided the majority of our patients with a diagnosis, and positively impacted their treatment, follow-up, and prognosis. CONCLUSION: This paper expands the paucity of literature on genetically confirmed IEIs in North America and supports the expansion of access to genetic testing for patients with clinical features suggesting IEI, such as those presented in our cohort.


Assuntos
Diagnóstico Tardio , Doenças do Sistema Imunitário , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Sistema Imunitário
2.
SAGE Open Med Case Rep ; 9: 2050313X20979560, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33628445

RESUMO

BACKGROUND: Palisaded neutrophilic granulomatous dermatitis is a rare inflammatory dermatosis with possible underlying systemic conditions including rheumatoid arthritis, autoimmune connective tissue disease, and malignancies. CASE SUMMARY: We report a case of an 84-year-old man presenting with a 3-week eruption of asymptomatic annular plaques on his neck, which progressed to involve his back and legs. Skin biopsies confirmed a diagnosis of palisaded neutrophilic granulomatous dermatitis, and he was treated with prednisone. Full workup related to potential underlying causes of palisaded neutrophilic granulomatous dermatitis was completed. CONCLUSION: Palisaded neutrophilic granulomatous dermatitis may precede the onset of underlying systemic conditions or occur concomitantly. Following the diagnosis, clinicians should perform a comprehensive focused history, physical examination, and laboratory investigation related to the associated underlying diseases.

4.
J Adolesc Health ; 67(4): 618-620, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32291151

RESUMO

Vitamin C deficiency results in the clinical presentation of scurvy, a disease that is rare among the adolescent population. Individuals with unusual dietary habits, mental illness, or physical disability are more prone to develop scurvy. We present a case report of a previously healthy 16-year-old female presented to the hospital with a 12-month history of anorexia nervosa, restrictive subtype. She was admitted to the intensive care unit and transferred to a tertiary care pediatric eating disorder program for the treatment of extreme weight loss, cardiovascular instability, and refeeding syndrome. On examination, she had multiple tiny hyperpigmented perifollicular petechial papules on the lower abdomen, dorsum thighs, and extensor surfaces of the arms with corkscrew hairs on the abdomen. Dermatologic examination and laboratory investigations were consistent with a diagnosis of scurvy. The patient's vitamin C serum level was 21 µmol/L (.23 mg/dL; reference range 25-114 µmol/L [.28-1.28 mg/dL]). She was treated with ascorbic acid orally. Objective cutaneous findings improved within 4 weeks of supplementation, and after 6 weeks, repeat levels of vitamin C levels were 102 µmol/L (1.15 mg/dL). To the best of our knowledge, this is the first case of an adolescent female with anorexia nervosa and cutaneous manifestations of scurvy that resolved after the oral administration of vitamin C.


Assuntos
Anorexia Nervosa , Escorbuto , Adolescente , Anorexia Nervosa/complicações , Ácido Ascórbico/uso terapêutico , Comportamento Alimentar , Feminino , Humanos , Escorbuto/diagnóstico , Escorbuto/tratamento farmacológico , Escorbuto/etiologia , Vitaminas
6.
J Cutan Med Surg ; 24(1): 47-54, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31615275

RESUMO

BACKGROUND: Skin diseases are among the most common diseases encountered by healthcare professionals. Despite this, dedicated dermatology teaching is limited in most Canadian medical school training programs. This is especially true of clinical skills training. OBJECTIVES: To determine the impact of early introduction of dermatology clinical skills in Canadian undergraduate medical training. Secondary objectives included examining the impact of having sessions co-led by a clinician with expertise in the field of dermatology. METHODS: A half-day dermatology clinical skills session was introduced in the University of Toronto preclerkship medical school during the dermatology week. Sessions were co-led by staff or resident dermatologists. Sessions were evaluated using student pre- and postclinical skills test scores, as well as experience questionnaires completed by both tutors and students. RESULTS: The clinical skills session was well received by both students and tutors, with no cumulative score less than 4.34 on a 5-point Likert scale. The majority of students agreed or strongly agreed that the introduction of clinical skills in the early years of the curriculum facilitated learning consolidation (99.5%). Comparison of pre- and post-test scores showed that students' dermatology comprehension improved by an average of 12.1% following completion of the session. In questionnaire responses, students and nondermatology co-tutors emphasized the impact of having an expert in the field of dermatology co-lead the session. CONCLUSIONS: Students valued early clinical skills exposure to dermatology and felt it enhanced their knowledge and abilities. This study demonstrates learning consolidation when dermatologic didactic teachings are paired with practical clinical skills sessions.


Assuntos
Competência Clínica , Currículo , Dermatologia/educação , Educação de Graduação em Medicina/métodos , Estudantes de Medicina/estatística & dados numéricos , Canadá , Avaliação Educacional , Humanos , Inquéritos e Questionários
7.
Dermatitis ; 30(3): 213-221, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31045931

RESUMO

BACKGROUND: The occlusion devices used for repair of atrial septal defect and patent foramen ovale commonly contain nitinol, an alloy containing nickel. There are reports of nickel allergy in the context of intracardiac device implantation. Type IV delayed-type reactions likely predominate in intracardiac metal hypersensitivity, but there are potentially other mechanisms such as cytotoxic or innate immunity. Based on available literature to date, the significance of nickel allergy in intracardiac occluders remains unclear. OBJECTIVE: The aim of the study was to investigate nickel allergy management strategies in intracardiac occluders. METHODS: The American Contact Dermatitis Society facilitated distribution of a survey via e-mail to the members of its association, which included dermatologists and allergists/immunologists. A total of 70 individuals answered the survey. CONCLUSIONS: There was no consensus regarding the ability of patch testing to accurately determine allergic reactions within cardiac tissue. There was also no agreement on the criteria for patch testing in patients undergoing intracardiac implantation. However, most would inquire about a history of contact sensitivity to previously implanted devices. With a positive patch test, nickel-based intracardiac devices should be avoided, or the decision should be left to the discretion of the cardiologist.


Assuntos
Ligas/efeitos adversos , Dermatite Alérgica de Contato/prevenção & controle , Níquel/efeitos adversos , Dispositivo para Oclusão Septal/efeitos adversos , Estudos Transversais , Dermatite Alérgica de Contato/diagnóstico , Feminino , Forame Oval/cirurgia , Forame Oval Patente/terapia , Humanos , Testes do Emplastro/métodos
8.
9.
J Cutan Med Surg ; 21(6): 556-558, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28595451

RESUMO

INTRODUCTION: Dependent erythema or rubor is an erythematous discoloration of the limbs, most commonly associated with peripheral artery disease. We present a case of florid dependent erythema, associated with additional autonomic symptoms. METHODS: Examination and full workup of a 16-year-old healthy girl with an 8-year history of dependent erythema, chronic diarrhea, and mild hyperhidrosis. A literature search was performed to review any similar cases and generate a differential diagnosis. RESULTS: Examination of our patient showed symmetrical, asymptomatic fiery to dusky erythematous patches of the lower legs and feet, with intermittent areas of pallor. These florid changes occurred with erect posture. Resolution to near normal occurred within minutes when the patient was in the supine position. Full physical examination revealed mild erythema and hyperhidrosis of the hands. CONCLUSIONS: To our knowledge, there have been no reports of painless dependent rubor associated with sympathetic dysfunction. Literature search reports a few cases of gravitational erythema and angiodyskinesia. This case presentation is most likely part of the spectrum of dependent erythema and may shed light on the underlying aetiology.


Assuntos
Doenças do Sistema Nervoso Autônomo/complicações , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Eritema/etiologia , Dermatoses da Perna/etiologia , Adolescente , Doença Crônica , Diarreia/etiologia , Feminino , Humanos , Hiperidrose/etiologia , Postura , Sistema Nervoso Simpático/fisiopatologia
10.
J Cutan Med Surg ; 20(2): 113-7, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26453666

RESUMO

BACKGROUND: An autoimmune basis is believed to be responsible for about half of chronic spontaneous urticaria (CSU) cases. The autologous serum skin test is used as a possible indicator, but there is currently no test that directly indicates an autoimmune etiology. In this study, an indirect immunofluorescence was used to identify patients with autoantibodies directed at mast cells. METHODS: Two substrates were used including paraffin embedded sections of skin biopsies from an infant with bullous mastocytosis and cord blood-derived mast cells (CBMC). Sera from 76 patients with CSU were incubated with substrates and conjugated with human IgG. RESULTS: Using the bullous mastocytosis preparations, positive indirect immunofluorescence was found in 46% (n = 76), while the CBMC substrate was positive in 39% (n = 70). CONCLUSION: The IgG autoantibodies directed at mast cells could be detected in about half the patients with CSU. Indirect immunofluorescence should be considered as an indicator of the autoimmune form of CSU.


Assuntos
Autoanticorpos/análise , Doenças Autoimunes/diagnóstico , Técnica Indireta de Fluorescência para Anticorpo/métodos , Mastócitos/imunologia , Pele/patologia , Urticária/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Autoimunes/imunologia , Biópsia , Criança , Doença Crônica , Feminino , Humanos , Masculino , Mastócitos/patologia , Pessoa de Meia-Idade , Testes Cutâneos , Urticária/imunologia , Adulto Jovem
11.
J Cutan Med Surg ; 20(3): 241-3, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26678077

RESUMO

BACKGROUND: Chronic spontaneous urticaria (CSU) is urticaria persisting for more than 6 weeks with no identifiable provoking cause and associated with significant disability. OBJECTIVES: The aim of this study was to survey patients with CSU with a view to establishing prognosis, efficacy of treatments, suspected causality, and effects on lifestyle. METHODS: One hundred seventy-four patients with CSU were seen between 2003 and 2013. A questionnaire was sent to all, and 101 participated. RESULTS: The ratio of female to male participants was 4:1. The mean age of onset was 36 years. The average duration of symptoms was 8.8 years, with a range of 0.33 to 55 years. Seven percent of participants had autoimmune thyroiditis, and another 17% had various other autoimmune diseases. Common symptoms were pruritus, disturbed sleep, and anxiety. Slightly more than 70% had missed work or school. Most were frustrated at the lack of efficacy of treatments. CONCLUSIONS: CSU is frequently associated with a history of autoimmune diseases. It may persist for decades and causes significant disruption to lifestyle.


Assuntos
Qualidade de Vida , Tireoidite Autoimune/complicações , Urticária/etiologia , Urticária/psicologia , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Ansiedade/etiologia , Criança , Pré-Escolar , Doença Crônica , Dissonias/etiologia , Feminino , Frustração , Antagonistas dos Receptores Histamínicos/uso terapêutico , Humanos , Imunossupressores/uso terapêutico , Lactente , Masculino , Pessoa de Meia-Idade , Prognóstico , Prurido/etiologia , Índice de Gravidade de Doença , Esteroides/uso terapêutico , Inquéritos e Questionários , Urticária/complicações , Urticária/tratamento farmacológico , Adulto Jovem
12.
Int J Dermatol ; 53(12): 1442-6, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25266223

RESUMO

Accessory tragus is a developmental defect involving malformation of part of the external ear. It is a moderately rare congenital condition reported in 1858 by Birkett for the first time. Histological features of accessory tragus include a thin layer of stratum corneum with a rugated epidermis, presence of eccrine glands, and irregular spatial positioning of vellus hair follicles accompanied by sebaceous glands. Accessory tragus is commonly a limited deformity; however, it can be a sign of associated congenital syndromes. It has been shown to be associated with Goldenhar syndrome, Townes-Brocks syndrome, Treacher-Collins syndrome, VACTERL syndrome, and Wolf-Hirschhron syndrome. Surgical excision, the most common form of management of accessory tragus lesions, typically leads to a positive outcome. An extensive search was performed using pubmed.gov, Embase, MedLine, and Googlescholar.com using key words: accessory tragus, congenital malformations of ear, first branchial arch, and embryology. In this paper, we review the clinical and histological presentation, associated syndromes, management, and outcome of accessory tragus.


Assuntos
Cartilagem da Orelha/anormalidades , Anormalidades Múltiplas , Canal Anal/anormalidades , Anus Imperfurado , Anormalidades Congênitas/patologia , Anormalidades Congênitas/cirurgia , Cartilagem da Orelha/cirurgia , Esôfago/anormalidades , Síndrome de Goldenhar , Perda Auditiva Neurossensorial , Cardiopatias Congênitas , Humanos , Rim/anormalidades , Deformidades Congênitas dos Membros , Disostose Mandibulofacial , Coluna Vertebral/anormalidades , Polegar/anormalidades , Traqueia/anormalidades , Síndrome de Wolf-Hirschhorn
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