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.

Bicytopenia and leukoerythroblastosis: a rare initial presentation of signet ring cell gastric adenocarcinoma

Gastric adenocarcinoma is a common neoplasia and is responsible for up to 30% of the overall deaths due to cancer. Advanced disease is mostly characterized by peritoneum, liver, and lung involvement. The spread of the disease to the bone is rare, and bone marrow dissemination is even rarer. In this setting, leukoerythroblastosis may be the initial manifestation of the disease. The authors report the case of a 64-year-old Caucasian man who sought medical care complaining of back pain, weakness, and weight loss. The physical examination revealed pallor, and the laboratory work-up depicted severe anemia and thrombocytopenia; the peripheral blood smear was consistent with leukoerythroblastosis. The ongoing investigation through a bone marrow biopsy showed massive involvement of the bone marrow by a signet ring cell adenocarcinoma. During hospitalization, the patient presented melena, and an upper digestive endoscopy depicted an ulcerated and infiltrative lesion in the cardia, upon which the histological examination revealed a signet ring cell adenocarcinoma. This case highlights the bone marrow invasion represented by bicytopenia and leukoerythroblastosis as the initial manifestation of this histological type of gastric cancer. Although treatment attempts were made with chemotherapy and radiotherapy, the patient died early on, showing the aggressive behavior of this form of tumoral presentation.

Academic autopsies in Brazil - a national survey / Autópsias acadêmicas no Brasil - um inquérito nacional

Objective: To investigate the number and rate of academic autopsies, general organization, educational and research in Brazilian academic services. Methods: Standardized questionnaires were sent to Brazilian medical schools (n=177) and active pathology residency programs (n=53) from March to June 2009. Data were collected for years 2003 to 2008. Results: Thirty-two academic services in 11 Brazilian states answered the survey. Twenty-one (65.6%) perform less than a hundred autopsies for natural causes and less than fifty pediatric or fetal autopsies/year. Twenty-four (75%) perform less than a hundred adult autopsies/year. Many institutions (46.9%) reported a drop in the number of autopsies in a six-year period. The total autopsy count and autopsy rate in 2008 ranged 1-632 (median = 80), and 0-66% (mean = 10.6%), respectively. A steady decrease in the total count of autopsies in a pool of 19 institutions was observed (p<0.01). Median autopsy rates have fallen from 19.3%, in 2003, to 10.6%, in 2008 (p=0.07). Significant discrepancies at autopsies led to changes in institutional healthcare practice in 37.5% of the services. The low number of autopsies was a limiting factor in undergraduate education for 25% of respondents. A minimum number of autopsies is required to complete the pathology residency program in 34.6% of the services. Conclusion: The total number and the rate of academic autopsies have decreased in Brazil between 2003 and 2008. The number of autopsies and the general organization of academic services must be enhanced to improve medical education, research, and the quality control of patient care. .

Objetivo: Investigar o número e a taxa de autópsias acadêmicas, organização geral, ensino e pesquisa em serviços acadêmicos brasileiros. Métodos: Questionários padronizados enviados para escolas médicas brasileiras (n=177) e programas de residência em patologia ativos (n=53) de março a junho de 2009. Dados coletados referentes ao período de 2003 a 2008. Resultados: Trinta e dois serviços em 11 estados responderam à pesquisa. Vinte e um (65,6%) realizam menos de cem autópsias de causas naturais e menos de cinquenta autópsias fetais ou pediátricas/ano. Vinte e quatro (75%) realizam menos de cem autópsias de adultos/ano. Muitas instituições (46,9%) relataram queda no número de autópsias em seis anos. A contagem total e a taxa de autópsias em 2008 variaram, respectivamente, de 1 a 632 (mediana=80) e de 0 a 66% (média=10,6%). Foi observada uma redução contínua no total de autópsias em um grupo de 19 instituições (p<0,01). A mediana da taxa de autópsias caiu de 19,3%, em 2003, para 10,6%, em 2008 (p=0,07). Discrepâncias significativas observadas em autópsias levaram a mudanças na prática institucional de saúde em 37,5% dos serviços. O baixo número de autópsias foi limitante no ensino de graduação para 25% dos entrevistados. Um número mínimo de autópsias é necessário para completar o programa de residência em patologia em 34,6% dos serviços. Conclusão: O número total e a taxa de autópsias acadêmicas diminuíram no Brasil entre 2003 e 2008. O número de autópsias e organização geral dos serviços acadêmicos deve ser melhorado para fortalecer a educação médica, pesquisa e controle de qualidade prestado ao paciente. .