Clinical algorithms for the diagnosis and prognosis of interstitial lung disease in systemic sclerosis.

INTRODUCTION: Interstitial lung disease (ILD) is currently the primary cause of death in systemic sclerosis (SSc). Thoracic high-resolution computed tomography (HRCT) is considered the gold standard for diagnosis. Recent studies have proposed several clinical algorithms to predict the diagnosis and prognosis of SSc-ILD. OBJECTIVE: To test the clinical algorithms to predict the presence and prognosis of SSc-ILD and to evaluate the association of extent of ILD with mortality in a cohort of SSc patients. METHODS: Retrospective cohort study, including 177 SSc patients assessed by clinical evaluation, laboratory tests, pulmonary function tests, and HRCT. Three clinical algorithms, combining lung auscultation, chest radiography, and percentage predicted forced vital capacity (FVC), were applied for the diagnosis of different extents of ILD on HRCT. Univariate and multivariate Cox proportional models were used to analyze the association of algorithms and the extent of ILD on HRCT with the risk of death using hazard ratios (HR). RESULTS: The prevalence of ILD on HRCT was 57.1% and 79 patients died (44.6%) in a median follow-up of 11.1 years. For identification of ILD with extent ≥10% and ≥20% on HRCT, all algorithms presented a high sensitivity (>89%) and a very low negative likelihood ratio (<0.16). For prognosis, survival was decreased for all algorithms, especially the algorithm C (HR = 3.47, 95% CI: 1.62-7.42), which identified the presence of ILD based on crackles on lung auscultation, findings on chest X-ray, or FVC <80%. Extensive disease as proposed by Goh et al. (extent of ILD > 20% on HRCT or, in indeterminate cases, FVC < 70%) had a significantly higher risk of death (HR = 3.42, 95% CI: 2.12-5.52). Survival was not different between patients with extent of 10% or 20% of ILD on HRCT, and analysis of 10-year mortality suggested that a threshold of 10% may also have a good predictive value for mortality. However, there is no clear cutoff above which mortality is sharply increased. CONCLUSION: Clinical algorithms had a good diagnostic performance for extents of SSc-ILD on HRCT with clinical and prognostic relevance (≥10% and ≥20%), and were also strongly related to mortality. Non-HRCT-based algorithms could be useful when HRCT is not available. This is the first study to replicate the prognostic algorithm proposed by Goh et al. in a developing country.

Waist circumference in children and adolescents correlate with metabolic syndrome and fat deposits in young adults.

BACKGROUND & AIMS: To determine the relevance of waist circumference (WC) measurement and monitoring in children and adolescents as an early indicator of overweight, metabolic syndrome (MS) and cardiovascular problems in young adults in comparison with visceral and subcutaneous adiposity. METHODS: A cohort study with 159 subjects (51.6% female) started in 1999 with an average age of 13.2 years. In 1999, 2006 and 2008 weight, height, and WC were evaluated. In 2006 blood samples for laboratory diagnosis of MS were added. In 2008 abdominal computed tomography (ACT) to quantify the fat deposits were also added. RESULTS: The WC measured in children and adolescents was strongly correlated with body mass index (BMI) measured simultaneously. A strong correlation was established between WC in 1999 with measures of WC and BMI as young adults. WC strongly correlated with fat deposits in ACT. The WC in 1999 expressed more subcutaneous fat (SAT), while the WC when young adults expressed strong correlation with both visceral fat (VAT) and SAT. The correlation of WC with fat deposits was stronger in females. WC and not BMI in 1999 was significantly higher in the group that evolved to MS. CONCLUSIONS: The WC in children and adolescents was useful in screening patients for MS. WC expressed the accumulation of abdominal fat; especially subcutaneous fat.

One-year clinical and radiological evolution of a patient with refractory Takayasu's arteritis under treatment with tocilizumab.

A 28-year-old patient with Takayasu's arteritis (TA) failed to respond to high doses of prednisone in combination with methotrexate, pulses of cyclophosphamide and methylprednisolone, azathioprine, mycophenolate mofetil, adalimumab and monthly infusions of infliximab 5 mg/kg. After the beginning of tocilizumab therapy (4-8 mg/kg at monthly infusions), an impressive improvement in clinical and laboratory parameters of disease activity occurred, allowing the reduction of prednisone dose from 30 to 5 mg/day. However, after the 8th dose the patient developed symptoms of vertebrobasilar insufficiency, despite maintaining a good clinical condition and normal values of inflammatory markers. Angio-computed tomography repeated at one year of therapy showed reduction in aortic wall thickness, but also narrowing of the luminal diameters of the right subclavian, renal arteries, and left vertebral artery. Therefore, despite a significant clinical and laboratory improvement, vascular disease may progress in aortic branches in TA patients under tocilizumab therapy.

Lesão de Morel-Lavallée no joelho: relato de caso / Morel-Lavallée lesion in the knee: a case report

A lesão de Morel-Lavallée é uma lesão em cisalhamento que ocorre entre o tecido celular subcutâneo e a fáscia profunda. Caracteriza-se pela formação de uma coleção que, originalmente descrita na coxa, vem sendo observada em outros locais. Os autores relatam o caso de paciente com Morel-Lavallée no joelho e descrevem as principais características desta lesão.

Morel-Lavallée lesion is a degloving injury of the interface between the subcutaneous fat and the underlying fascia. This lesion is characterized by the development of a fluid collection that, although originally described in the thigh, it has also been described in other anatomical sites. The authors report the case of a patient with Morel-Lavallée lesion in the knee after trauma and describe the main characteristics of the lesion.

TCRBV20S1 and TCRBV3S1 gene segment polymorphisms in systemic sclerosis.

OBJECTIVE: To compare the frequencies of variants of TCRBV20S1 and TCRBV3S1 gene segments in patients with systemic sclerosis (SSc) and in controls. The null allele (allele 2) of TCRBV20S1 is associated with reduced levels of Vbeta20+ T-cells in the peripheral blood, while allele 1 of TCRBV3S1 is related to a low frequency of Vbeta3.1+ T-cells. METHODS: One hundred thirty patients with SSc and 118 healthy volunteer controls were genotyped for TCRBV20S1, and 117 patients and 85 controls were genotyped for TCRBV3S1 variants by PCR-RFLP. Patients underwent clinical evaluation, serology, pulmonary function tests, high resolution computed tomography, and Doppler echocardiography. RESULTS: The genotypic frequencies of TCRBV20S1 were 0.46 (allele 1/allele 1), 0.43 (allele 1/allele 2), and 0.11 (allele 2/allele 2) in SSc patients; in controls the frequencies were 0.70, 0.26, and 0.04, respectively (p < 0.001). The Mantel-Haenszel odds ratio (stratified by race and sex) of the allele 2 carrier state was 3.88 (95% CI 1.94 to 7.75). The allelic and genotypic frequencies of the TCRBV3S1 gene segment did not differ significantly in patients and controls. However, among patients, allele 1 (TCRBV3S1) carriers had a higher prevalence of interstitial lung disease (adjusted p = 0.032). CONCLUSION: The null allele of the TCRBV20S1 and the allele 1 of TCRBV3S1 gene segments may be considered risk factors for the development of SSc and interstitial lung disease, respectively, suggesting a protective role of Vbeta20+ and Vbeta3.1+ cells in the pathogenic immune responses in SSc.

Nailfold capillary microscopy can suggest pulmonary disease activity in systemic sclerosis.

OBJECTIVE: To evaluate the association of capillaroscopic alterations with pulmonary disease activity in systemic sclerosis (SSc). METHODS: Ninety-one patients with SSc were studied by means of interview, physical examination, nailfold capillary microscopy (NCM), serology, pulmonary function tests, esophageal transit scintigraphy, Doppler echocardiography, and pulmonary high resolution computed tomography (HRCT). Pulmonary disease activity was diagnosed by the observation of ground-glass opacities on pulmonary HRCT. Capillary loss on NCM was evaluated using the avascular score: patients with mean score > or = 1 or mean number of megacapillaries per finger > or = 1 were considered to have severe capillaroscopic alterations. RESULTS: Patients with higher skin scores, longer disease duration, signs of peripheral ischemia, esophageal dysfunction, antitopoisomerase I antibodies, and ground-glass opacities had higher mean avascular scores (p < or = 0.05 in all tests). The association between ground-glass opacities and higher avascular scores was particularly strong in patients with disease duration < or = 5 years. Among these patients, ground-glass opacities were present in 14 of 19 patients with severe NCM alterations, but were absent in all patients (n = 8) with mild or no NCM alterations (p < 0.001). ROC curves confirmed the ability of NCM to discriminate between patients with and without ground-glass opacities among those with disease duration < or = 5 years. However, NCM could not predict the presence of reduced pulmonary diffusing capacity. CONCLUSION: The severity of NCM abnormalities is associated with lung disease activity in SSc, particularly when the disease duration is relatively short.

Gliossarcoma de tronco cerebral em paciente pediátrico: relato de caso / Brain stem gliosarcoma in pediatric patient: a case report

Os autores relatam o caso de um paciente branco, de quatro anos de idade, com comprometimento neurológico progressivo. Tomografia computadorizada do crânio e ressonância magnética evidenciaram lesão expansiva no tronco cerebral. Subseqüentemente, foi feito diagnóstico histopatológico de gliossarcoma. Trata-se de um tumor raro do sistema nervoso central que, na grande maioria dos casos, acomete pacientes acima dos 40 anos de idade e tem localização supratentorial. Há poucos casos relatados de gliossarcomas em crianças, sobretudo na região infratentorial. Dados epidemiológicos, assim como achados mais freqüentes na tomografia computadorizada e ressonância magnética, são discutidos.

Capilaroscopia periungueal pode sugerir atividade de doença pulmonar na esclerose sistêmica / Nailfold capillaroscopy can predict active pulmonary involvement in systemic sclerosis

Objetivo: Estudar a associação entre alterações capilaroscópicas e lesões em órgãos-alvo na esclerose sistêmica (ES). Métodos: Noventa e um pacientes com ES foram avaliados através de entrevista, exame físico, capilaroscopia periungueal (CPU), sorologia, provas de função pulmonar, cintilografia de trânsito esofágico, ecocardiografia com Doppler e tomografia computadorizada de alta resolução pulmonar (TCAR). A deleção capilar na CPU foi avaliada usando o escore de deleção vascular de Lee; consideram-se alterações severas na CPU um escore médio de deleção maior e igual 1 ou número médio de megacapilares por dedo maior e igual 1 para fins de análise. Hipertensão arterial pulmonar (HAP) foi definida como pressão sistólica na artéria pulmonar maior e igual 40 mmHg. Resultados: Pacientes com alterações capilaroscópicas severas apresentaram maior prevalência de áreas de opacidade em vidro-fosco (OVF) (P=0,016), redução da capacidade difusional pulmonar (P=0,026) e disfunção esofágica (P=0,001). HAP ocorreu somente em pacientes com alterações severas na CPU (P=0,114). Naqueles com duração de doença menor e igual 5 anos, OVF estavam presentes em 14 de 19 pacientes com alterações severas na CPU, mas não estavam presentes nos 8 pacientes com alterações capilaroscópicas leves ou ausentes (<0,001). Nesse subgrupo, nenhuma outra variável clínica ou laboratorial associou-se à presença de OVF. O uso de curvas ROC mostrou uma boa capacidade de CPU em discriminar pacientes com e sem o desfecho combinado de HAP ou doença intersticial pulmonar em pacientes com duração de doença menor e igual 5 anos. Conclusões: A severidade das anormalidade da CPU está associada com dano em órgãos-alvo na ES. A CPU pode indicar a presença de doença pulmonar ativa (representada por áreas de opacidade em vidro-fosco na TCAR) na ES de duração relativamente curta.