HLA-C*17, DQB1*03:01, DQA1*01:03 and DQA1*05:05 Alleles Associated to Bullous Pemphigoid in Brazilian Population.

BACKGROUND: Bullous pemphigoid (BP) is an autoimmune disease with bullous vesicles and an incidence of 0.2 to 1.4 per 100,000 inhabitants. Many studies have been published demonstrating the association of pemphigoid with HLA class II system alleles in different populations, however there are no data on the BP, one of the most heterogeneous in the world. OBJECTIVE: To typify HLA alleles in Brazilians with Bullous pemphigoid. METHODS: The study group included 17 Brazilian patients with a confirmed diagnosis of BP from a hospital in Sao Paulo city, southeast Brazil. DNA was extracted from peripheral blood using Qiagen kits and HLA A, B, C, DR and DQ typing was performed using polymerase chain reaction. The control group was composed of a database of 297 deceased donors from the city of Sao Paulo. The statistical significance level was adjusted using the Bonferroni correction depending on the phenotypic frequencies evaluated for HLA class I (A, B and C) and class II (DRB1, DQB1 and DQA1). RESULTS: Our findings show that alleles HLA C*17, DQB1*03:01, DQA1*01:03 and DQA1*05:05 are associated with the onset of the disease in the Brazilian population, with relative risks of 8.31 (2.46 to 28.16), 3.76 (1.81 to 7.79), 3.57 (1.53 to 8.33), and 4.02 (1.87 to 8.64), respectively (p<0.005). CONCLUSION: Our data indicate that Brazilian patients with BP present the same genetic predisposition linked to HLA-DQB1*03:01 previously reported in Caucasian and Iranian individuals and our study introduces three new alleles (C*17, DQA1*01:03 and DQA1*05:05) involved in the pathophysiology of BP.

Diffusion of aniline blue injected into the thyroarytenoid muscle as a proxy for botulinum toxin injection: an experimental study in cadaver larynges

Endolaryngeal injection of botulinum toxin into the thyroarytenoid (TA) muscle is one of the methods for treatment of focal laryngeal dystonia. However, after treatment, there is variation in laryngeal configuration as well as the side effects reported by patients. As a consequence of the functional variability of results, it was hypothesized that botulinum toxin diffuses beyond the limits of the muscle into which it is injected. OBJECTIVES: After injection of botulinum toxin into the TA muscle for the treatment of focal laryngeal dystonia, patients differ in terms of laryngeal configuration and side effects. We hypothesized that this toxin diffuses from the target muscle to adjacent muscles. METHOD: The TA muscles of 18 cadaver larynges were injected with aniline blue (0.2 mL). After fixation in formaldehyde and nitric acid decalcification, the larynges were sectioned in the coronal plane and the intrinsic muscles were analyzed. RESULTS: We found diffusion of aniline blue to the lateral cricoarytenoid muscle, cricothyroid muscle, and posterior cricoarytenoid muscle in 94.3%, 42.9%, and 8.6% of the cases, respectively. In terms of the degree of diffusion to adjacent muscles, we found no differences related to the size (height and width) of the TA muscle or to gender. CONCLUSIONS: Our findings suggest that diffusion of botulinum toxin from its injection site in the TA muscle to the lateral cricoarytenoid muscle is likely in most cases. On the other hand, diffusion to the cricothyroid muscle occurs in approximately half of cases and diffusion to the posterior cricoarytenoid muscle occurs in very few cases...

Bullous Systemic Lupus Erythematosus: case report

Bullous systemic lupus erythematosus (BSLE) is an autoantibody-mediated disease with subepidermal blisters. It is a rare form of presentation of SLE that occurs in less than 5% of cases of lupus. CASE REPORT: A 27-year-old, female, FRS patient reported the appearance of painful bullous lesions in the left nasal wing and left buccal mucosa that displayed sudden and rapid growth. She sought advice from emergency dermatology staff 15 days after onset and was hospitalized with suspected bullous disease. Intravenous antibiotics and steroids were administered initially, but the patient showed no improvement during hospitalization. She displayed further extensive injuries to the trunk, axillae, and vulva as well as disruption of the bullous lesions, which remained as hyperemic scars. Incisional biopsy of a lesion in the left buccal mucosa was performed, and pathological results indicated mucositis with extensive erosion and the presence of a predominantly neutrophilic infiltrate with degeneration of basal cells and apoptotic keratinocytes. Under direct immunofluorescence, the skin showed anti-IgA, anti-IgM, and anti-IgG linear fluorescence on the continuous dermal side of the cleavage. Indirect immunofluorescence of the skin showed conjugated anti-IgA, was anti-IgM negative, and displayed pemphigus in conjunction with anti-IgG fluorescence in the nucleus of keratinocytes, consistent with a diagnosis of bullous lupus erythematosus. DISCUSSION: BSLE is an acquired autoimmune bullous disease caused by autoantibodies against type VII collagen or other components of the junctional zone, epidermis, and dermis. It must be differentiated from the secondary bubbles and vacuolar degeneration of the basement membrane that may occur in acute and subacute cutaneous lupus erythematosus...

Diffusion of aniline blue injected into the thyroarytenoid muscle as a proxy for botulinum toxin injection: an experimental study in cadaver larynges.

INTRODUCTION: Endolaryngeal injection of botulinum toxin into the thyroarytenoid (TA) muscle is one of the methods for treatment of focal laryngeal dystonia. However, after treatment, there is variation in laryngeal configuration as well as the side effects reported by patients. As a consequence of the functional variability of results, it was hypothesized that botulinum toxin diffuses beyond the limits of the muscle into which it is injected. OBJECTIVES: After injection of botulinum toxin into the TA muscle for the treatment of focal laryngeal dystonia, patients differ in terms of laryngeal configuration and side effects. We hypothesized that this toxin diffuses from the target muscle to adjacent muscles. METHOD: The TA muscles of 18 cadaver larynges were injected with aniline blue (0.2 mL). After fixation in formaldehyde and nitric acid decalcification, the larynges were sectioned in the coronal plane and the intrinsic muscles were analyzed. RESULTS: We found diffusion of aniline blue to the lateral cricoarytenoid muscle, cricothyroid muscle, and posterior cricoarytenoid muscle in 94.3%, 42.9%, and 8.6% of the cases, respectively. In terms of the degree of diffusion to adjacent muscles, we found no differences related to the size (height and width) of the TA muscle or to gender. CONCLUSIONS: Our findings suggest that diffusion of botulinum toxin from its injection site in the TA muscle to the lateral cricoarytenoid muscle is likely in most cases. On the other hand, diffusion to the cricothyroid muscle occurs in approximately half of cases and diffusion to the posterior cricoarytenoid muscle occurs in very few cases.

Bullous Systemic Lupus Erythematosus: Case report.

INTRODUCTION: Bullous systemic lupus erythematosus (BSLE) is an autoantibody-mediated disease with subepidermal blisters. It is a rare form of presentation of SLE that occurs in less than 5% of cases of lupus. CASE REPORT: A 27-year-old, female, FRS patient reported the appearance of painful bullous lesions in the left nasal wing and left buccal mucosa that displayed sudden and rapid growth. She sought advice from emergency dermatology staff 15 days after onset and was hospitalized with suspected bullous disease. Intravenous antibiotics and steroids were administered initially, but the patient showed no improvement during hospitalization. She displayed further extensive injuries to the trunk, axillae, and vulva as well as disruption of the bullous lesions, which remained as hyperemic scars. Incisional biopsy of a lesion in the left buccal mucosa was performed, and pathological results indicated mucositis with extensive erosion and the presence of a predominantly neutrophilic infiltrate with degeneration of basal cells and apoptotic keratinocytes. Under direct immunofluorescence, the skin showed anti-IgA, anti-IgM, and anti-IgG linear fluorescence on the continuous dermal side of the cleavage. Indirect immunofluorescence of the skin showed conjugated anti-IgA, was anti-IgM negative, and displayed pemphigus in conjunction with anti-IgG fluorescence in the nucleus of keratinocytes, consistent with a diagnosis of bullous lupus erythematosus. DISCUSSION: BSLE is an acquired autoimmune bullous disease caused by autoantibodies against type VII collagen or other components of the junctional zone, epidermis, and dermis. It must be differentiated from the secondary bubbles and vacuolar degeneration of the basement membrane that may occur in acute and subacute cutaneous lupus erythematosus.

Tratamento endovascular de pseudoaneurisma de aorta torácica: relato de caso / Endovascular treatment of thoracic aortic pseudoaneurysm: case report

Paciente de 31 anos vítima de acidente automobilístico apresentou falta de ar inspiratória progressiva acompanhada de dor dissecante no tórax, de forte intensidade, sem irradiação; Glasgow 15 e ISS 26 (16 + 9 + 1); exames laboratoriais e radiográficos compatíveis com a normalidade. Foi operado de fratura de tíbia 1 dia depois, tendo recebido alta 3 dias depois da entrada no serviço. No entanto, foi piorando da falta de ar e da dor torácica, retornando para nova consulta 2 dias após a alta hospitalar. Foi realizada tomografia computadorizada helicoidal que revelou pseudoaneurisma de aorta torácica. Optou-se por tratamento endovascular com implante de endoprótese.

A 31-year-old car accident victim was admitted with progressive inspiratory dyspnea, followed by intense dissecting thoracic pain, without any irradiation. The patient's Glasgow score was 15, while his ISS was 26 (16 + 9 + 1). Laboratory and radiographic results were normal. One day after hospital admission, the patient underwent surgery due to a fractured tibia, being discharged from hospital 3 days later. However, worsening shortness of breath and thoracic pain were observed and he returned to the hospital 2 days later. A helical computed tomography was done revealing a thoracic aortic pseudoaneurysm. Endovascular surgery with endoprosthesis implantation was the treatment of choice.

Avaliação do risco de síndrome da apneia obstrutiva do sono (SAOS) nos pacientes internados em spa de emagrecimento / Evaluation of the risk of sleep obstructive apnea syndrome (SOAS) in patients admitted in a slimming spa

Introdução: A associação entre a Síndrome de Apneia Obstrutiva do Sono (SAOS) e a obesidade tem sido muito estudada. A SAOS é caracterizada pela obstrução repetitiva da via aérea superior durante o sono, muitas vezes acompanhada de roncos, dessaturação de oxigênio, fragmentação do sono e sonolência excessiva diurna (SED). Tipo do Estudo: Transversal Prospectivo. Objetivo: Analisar os resultados do Questionário de Berlim (QB) e da Escala de Sonolência de Epworth(ESE) preenchidos pelos pacientes internados no Spa Med Campus Sorocaba, procurando encontrar quais deles possuem sonolência diurna e alto risco para SAOS. Método: Os pacientes responderam voluntariamente aos Questionários de Berlim e ESE. O estudo foi do tipo transversal, com análise dos questionários preenchidos durante o ano de 2008. Resultados: Obtivemos um total de 276 pacientes, com um total de 183 mulheres e 93 homens. A prevalência de obesos foi de 111 pacientes (40,2%). No grupo QB positivo, obtivemos 84 pacientes no total; sendo 34 homens, quanto ao grupo ESE positivo, encontramos no total 67 pacientes, sendo 24 homens. Conclusão: A ESE e o QB têm servido atualmente de triagem para os distúrbios do sono e pode servir como possível indicador para a polissonografia. Os resultados dos questionários nos mostram a alta prevalência de indivíduos internados em SPA com risco de apresentar SAOS, especialmente os obesos.

Introduction: The association between Sleep Obstructive Apnea Syndrome (SOAS) and the obesity has been highly studied. The SOAS is characterized by the repetitive obstruction of the upper airways during the sleep, many times accompanied by snores, oxygen desaturation, sleep fragmentation and excessive daytime somnolence (EDS). Type of Study: Prospective Transversal. Objective: To analyze the results of the Berlin Questionnaire (BQ) and the Epworth Somnolence Scale (ESS) completed by the patients interned in the Spa Med Campus Sorocaba, attempting to find who has daytime somnolence and high risk for SOAS. Method: The patients completed the Berlin Questionnaire and the ESS voluntarily. The study was of transversal type with analysis of the questionnaires completed during the year of 2008. Results: We obtained a total of 276 patients with a total of 183 women and 93 men. The prevalence of obese patients was of 111 patients (40.2%). In the positive BQ group, we obtained a total of 84 patients; 34 male; as to the positive ESS group, we found a total of 67 patients, 24 male. Conclusion: The ESS and the BQ have been useful currently for selection of the sleep disorders and may serve as a possible indicator for polysonography. The questionnaires' results show us the high prevalence of individuals interned in SPA with the risk of having SOAS, specially the obese ones.