Niemann-Pick disease is a rare autosomal recessive lysosomal storage disease with three subtypes. Types A and B result from a deficiency of acid sphingomyelinase activity, associated with the accumulation of lipid-laden macrophages (so-called Niemann-Pick cells) in various tissues, especially the liver and spleen. Type A is a fatal neurodegenerative disorder of infancy. Type B Niemann-Pick disease is a less severe form with milder neurological involvement, characterized by hepatosplenomegaly, hyperlipidemia, and pulmonary involvement; most patients live into adulthood. Type C Niemann-Pick disease is a complex lipid storage disorder caused by defects in cholesterol trafficking, resulting in a clinical presentation dominated by neurological involvement. Pulmonary involvement occurs in all three types of Niemann-Pick disease, but most frequently in type B. Respiratory manifestations range from a lack of symptoms to respiratory failure. Progression of respiratory disease is slow, but inexorable, due to the accumulation of Niemann-Pick cells in the alveolar septa, bronchial walls, and pleura, potentially leading to a progressively worsening restrictive pattern on pulmonary function testing. Bronchoalveolar lavage has important diagnostic value because it shows the presence of characteristic Niemann-Pick cells. Radiographic findings consist of a reticular or reticulonodular pattern and, eventually, honeycombing, involving mainly the lower lung zones. The most common changes identified by high-resolution computed tomography are ground-glass opacities, mild smooth interlobular septal thickening, and intralobular lines. The aim of this review is to describe the main clinical, imaging, and pathological aspects of Niemann-Pick disease, with a focus on pulmonary involvement.

Objectives: To evaluate the prevalence of goiter and nodular disease in patients with class III obesity, and to correlate results with serum leptin levels and insulin resistance (IR) parameters. Subjects and methods: A cross-sectional study was performed to assess thyroid ultrasound (US) patterns, HOMA-IR, serum leptin, and TSH levels in obese patients and controls. Results: Thyroid volume was positively correlated with body mass index (BMI) (r = 0.240, p = 0.039) and with HOMA-IR (r = 0.329; p < 0.01). Thyroid US patterns were similar between groups. However, when data from the male group was considered, greater thyroid volume was detected in the obese group compared with controls (10.8 vs. 8.5 cm 3 ; p = 0.04). Also, nodules were more frequently detected (67% vs. 18%), as were nodules requiring FNAB (33.3% vs. 0%, p ≥ 0.05-0.09), in this group. Conclusion: Although IR did not correlate directly with the presence of nodules, the results support the hypothesis of a direct association between insulin resistance and thyroid volume. Arq Bras Endocrinol Metab. 2013;57(2):120-5 Keywords Obesity; insulin resistance; goiter; thyroid nodule RESUMO Objetivos: Avaliar a prevalência de bócio e doença nodular tireoidiana em pacientes com obesidade grau III e correlacionar os resultados com os níveis de leptina e parâmetros de resistência à ação da insulina (RI). Sujeitos e métodos: Estudo seccional foi desenvolvido realizando ultrassonografia (US) tireoidiana e níveis séricos de HOMA-IR e TSH nos pacien tes obesos e nos controles. Resultados: Volume tireoidiano foi positivamente correlacionado com índice de massa corporal (IMC) (r = 0,240, p = 0,039) e com HOMA (r = 0,329; p < 0,01). Volume tireoidiano e prevalência de doença nodular tireoidiana foram similares entre os grupos. Quando avaliado o subgrupo masculino, maiores volumes tireoidianos foram detectados no grupo dos obesos comparados aos controles (10,8 vs. 8,5 cm 3 ; p = 0,04), nódulos foram mais frequentes (67% vs. 18%), assim como nódulos com indicação de punção (33,3% vs. 0%, p ≥ 0,05-0,09). Conclusão: Embora RI não se correlacione diretamente com a presença de nódulos, os resultados suportam a hipótese da direta associação entre resistência à ação da insulina e volume tireoidiano. Arq Bras Endocrinol Metab.2013;57(2):120-5 Descritores Obesidade; resistência à insulina; bócio; nódulo da glândula tireoide

No abstract

Objective:To analyze HRCT findings in patients with Niemann-Pick disease (NPD) type B, in order to determine the frequency of HRCT patterns and their distribution in the lung parenchyma, as well as the most common clinical characteristics. Methods:We studied 13 patients (3 males and 10 females) aged 5 to 56 years. HRCT images were independently evaluated by two observers, and disagreements were resolved by consensus. The inclusion criteria were presence of abnormal HRCT findings and diagnosis of NPD type B confirmed by histopathological examination of a bone marrow, lung, or liver biopsy specimen. Results:The most common clinical findings were hepatosplenomegaly and mild to moderate dyspnea. The most common HRCT patterns were smooth interlobular septal thickening and ground-glass opacities, which were both present in all patients. Intralobular lines were present in 12 patients (92.3%). A crazy-paving pattern was observed in 5 patients (38.4%), and areas of air trapping were identified in only 1 case (7.6%). Pulmonary involvement was bilateral in all cases, with the most affected area being the lower lung zone. Conclusions:Smooth interlobular septal thickening, with or without associated ground-glass opacities, in patients with hepatosplenomegaly is the most common finding in NPD type B.

333 INTRODUÇÃOO nódulo de tireóide é uma ocorrência comum na população após a quinta déca-da de vida(1,2) , sendo estimado que metade dos indivíduos clinicamente sem doenças da tireóide é portadora de nódulos tireoidianos. Sua incidência é três vezes maior no sexo feminino que no masculino (1,2) , sendo também mais freqüente em pacientes mais velhos, em pessoas expostas a radiação ionizante, e em pessoas vivendo em áreas endêmicas para a deficiên-cia de iodo (3) . Neste trabalho foi revisada a técnica empregada na execução da punção aspirativa por agulha fina guiada por ultra-sonografia, e são descritos os seus benefícios no diagnóstico de nódulos tireoidianos. Foram realizadas punções aspirativas por agulha fina em 63 pacientes do Hospital Universitário Clementino Fraga Filho da Universidade Federal do Rio de Janeiro, encaminhados ao Serviço de Radiodiagnóstico, no período de agosto de 2001 a junho de 2002. Dos 63 pacientes estudados, 58 (92%) eram do sexo feminino e cinco (8%) eram do sexo masculino, com uma relação mulher/homem de cerca de 11:1. Trinta e um pacientes (49%) se situaram na quinta e sexta décadas de vida. Oitenta e nove por cento dos pacientes apresentaram-se com nódulos múltiplos ao exame ecográfico; apenas 11% dos pacientes tinham nódulo único. Em relação aos laudos citológicos dos nódulos puncionados, 47% foram benignos, 31%, suspeitos, 17%, inadequados e apenas 5%, malignos. Todos os nódulos malignos (três pacientes) tiveram o diagnóstico citológico de carcinoma papilífero. Dos nódulos benignos, 93% foram diagnosticados como hiperplasia nodular e apenas 7% tiveram diagnóstico de tireoidite. Dos laudos considerados inadequados, 70% foram considerados hemorrágicos, sendo 30% considerados hipocelulares. Os dados encontrados no nosso trabalho estiveram de acordo com os encontrados na literatura médica. Unitermos: Nódulo da tireóide diagnóstico; Biópsia por agulha métodos; Ultra-sonografia de intervenção; Estudos prospectivos.Ultrasound-guided fine needle aspiration biopsy of thyroid nodules: study of 63 cases. In this study we reviewed the technique for ultrasound-guided fine needle aspiration biopsy and its benefits in the diagnosis of thyroid nodules. Ultrasound-guided fine needle aspiration was performed in 63 patients referred to the Department of Radiology of Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil, between August 2001 and June 2002. Fifty-eight (92%) of the patients were female and five patients (8%) were male; 11:1 female/male ratio. Thirty-one patients (49%) had 50-60 years of age and 89% of the patients showed multiple nodules on ultrasound; only 11% of the patients had single nodules. The cytological reports of the aspirated nodules showed that 47% of the nodules were benign, 31% suspected, 17% inadequate material and only 5% malignant. The cytological diagnosis of all malignant nodules (three patients) was papillary carcinoma. Among the benign nodules, 93% were diagnosed as nodular hyperplasia and only 7% had were d...

No abstract