P67-phox (NCF2) Lacking Exons 11 and 12 Is Functionally Active and Leads to an Extremely Late Diagnosis of Chronic Granulomatous Disease (CGD)

Two brothers in their fifties presented with a medical history of suspected fungal allergy, allergic bronchopulmonary aspergillosis, alveolitis, and invasive aspergillosis and pulmonary fistula, respectively. Eventually, after a delay of 50 years, chronic granulomatous disease (CGD) was diagnosed in the index patient. We found a new splice mutation in the NCF2 (p67-phox) gene, c.1000+2T→G, that led to several splice products one of which lacked exons 11 and 12. This deletion was in frame and allowed for remarkable residual NADPH oxidase activity as determined by transduction experiments using a retroviral vector. We conclude that p67-phox which lacks the 34 amino acids encoded by the two exons can still exert considerable functional activity. This activity can partially explain the long-term survival of the patients without adequate diagnosis and treatment, but could not prevent progressing lung damage

Purinergic signalling and immune cells

This review article provides a historical perspective on the role of purinergic signalling in the regulation of various subsets of immune cells from early discoveries to current understanding. It is now recognised that adenosine 5'-triphosphate (ATP) and other nucleotides are released from cells following stress or injury. They can act on virtually all subsets of immune cells through a spectrum of P2X ligand-gated ion channels and G protein-coupled P2Y receptors. Furthermore, ATP is rapidly degraded into adenosine by ectonucleotidases such as CD39 and CD73, and adenosine exerts additional regulatory effects through its own receptors. The resulting effect ranges from stimulation to tolerance depending on the amount and time courses of nucleotides released, and the balance between ATP and adenosine. This review identifies the various receptors involved in the different subsets of immune cells and their effects on the function of these cells

Source apportionment of atmospheric particulate carbon in Las Vegas, Nevada, USA

A study was conducted to quantify wintertime contributions of source types to carbonaceous PM2.5 at four urban sites in the Las Vegas Valley, one of the most rapidly growing urban areas in the southwestern United States. Twenty-four hour average ambient samples were collected for mass, ions, elements, organic carbon (OC), elemental carbon (EC), and trace organic markers analysis. Additional measurements were made to determine diurnal patterns in light-absorbing black carbon (BC) as a marker for combustion sources. Carbonaceous PM sources of on-road gasoline vehicles, on-road diesel vehicles, and off-road diesel engines were characterized with their chemical profiles, as well as fuel-based emission factors, using an In-Plume Sampling System. The Effective Variance Chemical Mass Balance (EV-CMB) source apportionment model was applied to the ambient samples collected, using source profiles developed in this study as well as profiles from other relevant studies. Four main sources contributed to PM2.5 carbon within the Las Vegas Valley: (1) paved road dust, (2) on-road gasoline vehicles, (3) residential wood combustion, and (4) on-road diesel vehicles. CMB estimated that on-road mixed fleet gasoline vehicles are the largest source for OC and EC at all the sites. The contribution of paved road dust to both OC and EC was 5-10% at the four sites. On-road diesel vehicles contribute 22% of the OC and 34% of the EC at a site near the city center, which is located immediately downwind of a major freeway. Residential wood combustion is a more important source than on-road diesel vehicles for two residential neighborhood sites. These results are consistent with our conceptual model, and the research methodology may be applied to studying other urban areas.</p

Pulmonary Air Leakage

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Avaliação epidemiológica das vítimas de trauma abdominal submetidas ao tratamento cirúrgico

OBJETIVO: avaliar o perfil epidemiológico e o desfecho das vítimas de trauma abdominal submetidas à laparotomia em hospital de urgência. MÉTODOS: estudo observacional, descritivo, longitudinal, com abordagem prospectiva, mediante entrevista de 100 pacientes com trauma abdominal submetidos ao tratamento cirúrgico e à avaliação dos seus prontuários. Período da coleta dos dados: setembro a novembro de 2011. RESULTADOS: Os pacientes mais acometidos pelo trauma abdominal foram do sexo masculino, de cor parda, na faixa etária de 25-49 anos, com baixa escolaridade, solteiros, católicos, com rendimento de um a dois salários mínimos. Houve uma predominância do trauma no ambiente urbano, no período noturno e no final de semana. O motivo mais frequente do trauma foi a tentativa de homicídio, associado ao uso de álcool e drogas ilícitas e o mecanismo a arma branca. A dor mostrou-se o sinal de alerta mais presente. A região mais afetada foi abdome superior e o fígado o órgão mais acometido. O tempo de internação hospitalar durou em torno de quatro a dez dias. A maioria teve alta sem sequela. Ocorreram dois óbitos. CONCLUSÃO: Foi marcante a associação do trauma abdominal com homens sob efeito de álcool e/ou drogas ilícitas, refletindo o contexto da violência interpessoal na sociedade atual. A despeito da magnitude do trauma, o desfecho foi satisfatório, apesar da ocorrência de óbitos, o que denota a importância dos hospitais de urgência de manter no seu corpo clínico uma equipe cirúrgica treinada