Bone marrow necrosis and fat embolism syndrome: a dreadful complication of hemoglobin sickle cell disease

Sickle cell disease encompasses a wide range of genotypic presentation with particular clinical features. The entity affects millions of people, particularly those whose ancestors came from sub-Saharan Africa and other countries in the Western Hemisphere, Saudi Arabia, and India. Currently, the high frequency of S and C genes reflects natural selection through the protection of heterozygotes against severe malaria, the high frequency of consanguineous marriages, improvement of some public health policies and the nutritional standards in the poorer countries where newborns are now living long enough to present for diagnosis and management. Although there is a high burden of the disease, in many countries, the new-born sickle cell screening test is being performed and is rendering an early diagnosis; however, it is still difficult for sickle cell patients to find proper treatment and adequate follow-up. Moreover, in many countries, patients are neither aware of their diagnosis nor the care they should receive to prevent complications; also, they do not receive adequate genetic counseling. Hemoglobin SC (HbSC) disease is the most frequent double sickle cell heterozygosis found in Brazil. The clinical course tends to be more benign with fewer hospitalizations compared with double homozygotic SS patients. However, HbSC patients may present severe complications with a fatal outcome. We report the case of a 36-year-old man who presented to the emergency care facility with symptoms consistent with the diagnosis of sickling crisis. The outcome was unfavorable and death occurred just hours after admission. The autopsy revealed a generalized vaso-occlusive crisis by sickled red cells, bone marrow necrosis, and fat embolism syndrome.

Severe pulmonary hypertension due to combined pulmonary fibrosis and emphysema: another cause of death among smokers

In 2005, the combined pulmonary fibrosis and emphysema (CPFE) was first defined as a distinct entity, which comprised centrilobular or paraseptal emphysema in the upper pulmonary lobes, and fibrosis in the lower lobes accompanied by reduced diffused capacity of the lungs for carbon monoxide (DLCO). Recently, the fibrosis associated with the connective tissue disease was also included in the diagnosis of CPFE, although the exposure to tobacco, coal, welding, agrochemical compounds, and tire manufacturing are the most frequent causative agents. This entity characteristically presents reduced DLCO with preserved lung volumes and severe pulmonary hypertension, which is not observed in emphysema and fibrosis alone. We present the case of a 63-year-old woman with a history of heavy tobacco smoking abuse, who developed progressive dyspnea, severe pulmonary hypertension, and cor pulmonale over a 2-year period. She attended the emergency facility several times complaining of worsening dyspnea that was treated as decompensate chronic obstructive pulmonary disease (COPD). The imaging examination showed paraseptal emphysema in the upper pulmonary lobes and fibrosis in the middle and lower lobes. The echo Doppler cardiogram revealed the dilation of the right cardiac chambers and pulmonary hypertension, which was confirmed by pulmonary trunk artery pressure measurement by catheterization. During this period, she was progressively restricted to the minimal activities of daily life and dependent on caregivers. She was brought to the hospital neurologically obtunded, presenting anasarca, and respiratory failure, which led her to death. The autopsy showed signs of pulmonary hypertension and findings of fibrosis and emphysema in the histological examination of the lungs. The authors highlight the importance of the recognition of this entity in case of COPD associated with severe pulmonary hypertension of unknown cause.

Diagnostic accuracy of a noninvasive hepatic ultrasound score for non-alcoholic fatty liver disease (NAFLD) in the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) / Acurácia diagnóstica de um escore de ultrassonografia hepática não invasivo para doença hepática gordurosa não alcoólica (DHGNA) no Estudo Longitudinal de Saúde do Adulto (ELSA-Brasil)

CONTEXT AND OBJECTIVE: Noninvasive strategies for evaluating non-alcoholic fatty liver disease (NAFLD) have been investigated over the last few decades. Our aim was to evaluate the diagnostic accuracy of a new hepatic ultrasound score for NAFLD in the ELSA-Brasil study. DESIGN AND SETTINGS: Diagnostic accuracy study conducted in the ELSA center, in the hospital of a public university. METHODS: Among the 15,105 participants of the ELSA study who were evaluated for NAFLD, 195 individuals were included in this sub-study. Hepatic ultrasound was performed (deep beam attenuation, hepatorenal index and anteroposterior diameter of the right hepatic lobe) and compared with the hepatic steatosis findings from 64-channel high-resolution computed tomography (CT). We also evaluated two clinical indices relating to NAFLD: the fatty liver index (FLI) and the hepatic steatosis index (HSI). RESULTS: Among the 195 participants, the NAFLD frequency was 34.4%. High body mass index, high waist circumference, diabetes and hypertriglyceridemia were associated with high hepatic attenuation and large anteroposterior diameter of the right hepatic lobe, but not with the hepatorenal index. The hepatic ultrasound score, based on hepatic attenuation and the anteroposterior diameter of the right hepatic lobe, presented the best performance for NAFLD screening at the cutoff point ≥ 1 point; sensitivity: 85.1%; specificity: 73.4%; accuracy: 79.3%; and area under the curve (AUC 0.85; 95% confidence interval, CI: 0.78-0.91)]. FLI and HSI presented lower performance (AUC 0.76; 95% CI: 0.69-0.83) than CT. CONCLUSION: The hepatic ultrasound score based on hepatic attenuation and the anteroposterior diameter of the right hepatic lobe has good reproducibility and accuracy for NAFLD screening. .

CONTEXTO E OBJETIVO: Estratégias não invasivas para avaliar doença hepática gordurosa não alcoólica (DHGNA) têm sido investigadas nas últimas décadas. Nosso objetivo foi avaliar a acurácia diagnóstica de um novo escore de ultrassonografia hepática para DHGNA no estudo ELSA-Brasil. TIPO DE ESTUDO E LOCAL: Estudo de acurácia diagnóstica realizado no centro ELSA, no hospital de uma universidade pública. MÉTODOS: Dos 15.105 participantes do estudo ELSA avaliados para DHGNA, 195 indivíduos foram incluídos neste estudo. Foi realizada ultrassonografia hepática (atenuação do feixe de profundidade, índice hepatorrenal e diâmetro anteroposterior do lobo direito do fígado) que foi comparada aos achados de esteatose hepática da tomografia computadorizada (TC) de alta resolução de 64 canais. Avaliamos também dois índices clínicos relacionados à DHGNA: o índice de gordura hepática (FLI) e o índice de esteatose hepática (HSI). RESULTADOS: Entre os 195 participantes, a frequência de DHGNA foi de 34,4%. Altos índices de massa corpórea, circunferência de cintura, diabetes e hipertrigliceridemia foram associados a aumento da atenuação hepática e do diâmetro anteroposterior do lobo hepático direito, mas não ao índice hepato-renal. A pontuação da ultrassonografia hepática, que incluiu atenuação hepática e diâmetro anteroposterior do lobo direito do fígado, apresentou o melhor desempenho para o rastreio DHGNA sob o ponto de corte ≥ 1 ponto (sensibilidade: 85.1%; especificidade: 73.4%; acurácia: 79.3%), e área sob a curva (AUC, 0,85, IC 95%: 0,78-0,91). FLI e HSI apresentaram menor desempenho (AUC 0,76; IC 95%: 0,69-0,83) comparados à TC. CONCLUSÃO: O escore de ultrassonografia hepática, que incluiu atenuação hepática e o diâmetro anteroposterior do lobo direito do fígado, possui boa reprodutibilidade e acurácia para o rastreio de DHGNA. .

Tumor miofibroblástico inflamatório da bexiga em criança: relato de caso / Inflammatory myofibroblastic tumor of the bladder in a child: a case report

Tumores miofibroblásticos inflamatórios raramente acometem vias urinárias ou crianças, comumente mimetizando neoplasias malignas nos exames de imagem. Foram descritos apenas 35 casos desses tumores na bexiga de crianças, segundo a literatura recente. Os autores apresentam o caso de uma criança com um tumor miofibroblástico vesical que evoluiu favoravelmente após ressecção cirúrgica completa.

Inflammatory myofibroblastic tumors rarely affect the urinary tract or children, and frequently mimic malignancy on imaging studies. According to the recent literature, only 35 cases of such bladder tumors in children have been reported. The authors present the case of a child with a bladder myofibroblastic tumor with favorable progression following complete surgical resection.