Compound BMPR2 gene mutations in a malignant variant of idiopathic pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH; MIM 600799) is frequently associated with concomitant diseases, including congenital heart disease. 6% of patients with PAH show a family history of the disease [hereditary PAH (HPAH)], with the major genetic determinants of HPAH being heterozygous germline mutations in the bone morphogenetic protein type II receptor (BMPR2). We present the case of a 38-year-old woman of Indian descent; initially admitted with progressive dyspnea [New York Heart Association (NYHA) class III]. The results of the proband’s clinical assessments are presented here. Cardiac catheterization confirmed idiopathic PAH with severe right ventricular hypertrophy associated with pulmonary arteriopathy. Initial treatment comprised the dual endothelin receptor antagonist, bosentan, furosemide, warfarin and intravenous infusion of prostaglandin I2 (PGI2) for 3 days. Despite this, the patient died of pulmonary hemorrhagic edema and cardiogenic shock after 6 days of intensive care. After relatives’ consent, post mortem assessments confirmed a diagnosis of PAH; the heart displayed significant right ventricular hypertrophy and it was particularly noted that the right atrial appendage had undergone extreme dilation. Pulmonary arteriopathy was characterized by medial hypertrophy, arterialization of muscular arteries and muscularization of non-muscularized distal arteries. Molecular genetic analyses revealed the presence of cis-mutations in the BMPR2 gene (p.Cys123Arg and p.Arg332X). Cosegregation studies were not available. Our findings suggest that mutations of the BMPR2 gene gave rise to the onset of PAH in this patient and that the severity of the onset and progression could be attributed to the presence of multiple mutations in a genedosage manner

Usefulness of 18F-FDG PET/CT in an Unusual Case of Solid-Pseudopapillary Pancreatic Tumor in Childhood With Aggressive Behavior

We report an unusual case of a solid-pseudopapillary pancreatic tumor (SPPT) with aggressive behavior that occurred in a 16-year-old male patient. 18F fluorodeoxyglucose PET/CT showed increased radiopharmaceutical uptake in a solid mass of the body of the pancreas, in several liver lesions, and in multiple peritoneal implants, corresponding to an SPPT with liver and peritoneal metastases, respectively. Based on PET/CT findings, the patient was referred to chemotherapy. In this unusual case of pediatric SPPT with aggressive behavior, 18F fluorodeoxyglucose PET/CT has been useful in staging the disease and in treatment planning

Long-term effect of municipal solid waste compost on the recovery of a potentially toxic element (PTE)-contaminated soil: PTE mobility, distribution and bioaccessibility

Compost from municipal solid waste (MSWC) can represent a resource for the environmental management of soils contaminated with potentially toxic elements (PTEs), since it can reduce their mobility and improve soil fertility. However, the long-term impact of compost on soil recovery has been poorly investigated. To this end, the influence of a MSWC added at different rates (i.e. 1.5, 3.0 and 4.5% w/w) to a multi-PTE-contaminated (e.g. Sb 412 mg kg-1, Pb 2664 mg kg-1 and Zn 7510 mg kg-1) sub-acidic soil (pH 6.4) was evaluated after 6 years since its addition. The MSWC significantly enhanced soil fertility parameters (i.e. total organic carbon, Olsen P and total N) and reduced the PTE labile fractions. The distribution maps of PTEs detected through μXRF analysis revealed the presence of Zn and Pb carbonates in the amended soils, or the formation of complexes between these PTEs and the functional groups of MSWC. A higher oral, inhalation and dermal bioaccessibility of each PTE was detected in the soil fine-grained fractions (< 2 and 2-10 μm) than in coarse particles (10-20 and 20-50 μm). The MSWC amendment generally did not modify the PTE bioaccessibility, while the relative bioaccessibility of cationic PTEs was greater than that of anionic ones (e.g. Cd > Zn > Pb > Sb > As). Pb and Sb showed the highest hazard quotients (e.g. 2.2 and 10 for Sb and Pb, respectively, in children). Overall, the results indicated that the MSWC used can be an effective option for the recovery of PTE-contaminated soils, even in the long term