Death of a young woman with cyclic vomiting: a case report.

We report the death of a 22-year-old woman, with a 3½ year history of cyclic vomiting and cannabis use since age 14, who developed torsades de pointes cardiac arrythmia while being treated in the emergency room for nausea and vomiting. Resuscitation restored spontaneous cardiac circulation, however, due to post-cardiac arrest anoxic brain injury, she never regained consciousness and was declared brain dead 4 days later. Postmortem examination confirmed hypoxic-ischemic encephalopathy, in keeping with the in-hospital diagnosis of brain death.

Fatal pneumococcal septicemia in a girl with visceral heterotaxy and polysplenia: a case report.

We report an unusual case of a 15-month old previously healthy girl who died of pneumococcal septicemia in the background of visceral heterotaxy with polysplenia. Heterotaxy can also present with asplenia whereas polysplenia cases usually present with functional asplenia. Of particular note, this girl received the 13-valent pneumococcal conjugate vaccine as recommended by the Centers for Disease Control and Prevention in the routine pediatric immunization schedule used in the USA and Canada.

Magnetic resonance imaging reveals specific anatomical changes in the brain of Agat- and Gamt-mice attributed to creatine depletion and guanidinoacetate alteration.

Arginine:glycine amidinotransferase- and guanidinoacetate methyltransferase deficiency are severe neurodevelopmental disorders. It is not known whether mouse models of disease express a neuroanatomical phenotype. High-resolution magnetic resonance imaging (MRI) with advanced image analysis was performed in perfused, fixed mouse brains encapsulated with the skull from male, 10-12 week old Agat and B6J.

Differentiation of antemortem pulmonary thromboembolism and postmortem clot with unenhanced MRI: a case report.

We report a case of a 39-year-old woman who died of fulminant pulmonary thromboembolism (PE). Autopsy showed classical findings of fulminant PE with occlusion of the bilateral main stem pulmonary arteries. Ancillary testing revealed inherited thrombophilia (Prothrombin 20,210 G > A and MTHFR 677 C > T mutation).

Comparison of Immune Profiles in Fetal Hearts with Idiopathic Dilated Cardiomyopathy, Maternal Autoimmune-Associated Dilated Cardiomyopathy and the Normal Fetus.

The etiology of idiopathic dilated cardiomyopathy (iDCM) remains unknown. Immune therapies have improved outcome in fetuses with DCM born to mothers with autoimmune disease (aDCM). The purpose of this retrospective study was to compare the myocardial B and T cell profiles in fetuses and neonates with idiopathic DCM (iDCM) versus autoimmune-mediated DCM (aDCM) and to describe the normal cell maturation within the human fetal myocardium.

Foxh1 recruits Gsc to negatively regulate Mixl1 expression during early mouse development.

Mixl1 is a member of the Mix/Bix family of paired-like homeodomain proteins and is required for proper axial mesendoderm morphogenesis and endoderm formation during mouse development. Mix/Bix proteins are transcription factors that function in Nodal-like signaling pathways and are themselves regulated by Nodal. Here, we show that Foxh1 forms a DNA-binding complex with Smads to regulate transforming growth factor beta (TGFbeta)/Nodal-dependent Mixl1 gene expression.

Baf60c is essential for function of BAF chromatin remodelling complexes in heart development.

Tissue-specific transcription factors regulate several important aspects of embryonic development. They must function in the context of DNA assembled into the higher-order structure of chromatin. Enzymatic complexes such as the Swi/Snf-like BAF complexes remodel chromatin to allow the transcriptional machinery access to gene regulatory elements.

Foxh1 is essential for development of the anterior heart field.

The anterior heart field (AHF) mediates formation of the outflow tract (OFT) and right ventricle (RV) during looping morphogenesis of the heart. Foxh1 is a forkhead DNA binding transcription factor in the TGFbeta-Smad pathway. Here we demonstrate that Foxh1-/- mutant mouse embryos form a primitive heart tube, but fail to form OFT and RV and display loss of outer curvature markers of the future working myocardium, similar to the phenotype of Mef2c-/- mutant hearts.

Tumor embolism as a cause of an unexpected death: a case report.

The primary causes of deaths for individuals with rare cancers can be difficult to diagnose clinically. Often, the symptoms implicate a variety of factors, and an autopsy is thus required to obtain the correct diagnosis. This study analyzes the death of a 45-year-old woman who reportedly died from an acute pulmonary dysfunction.