Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains ...unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease.
El Parque Nacional Bosques Petrificados de Jaramillo (PNBPJ), situado en la provincia de Santa Cruz, es un área silvestre destinada a la protección de la Estepa Patagónica, una de las ecorregiones ...más vulnerables y de máxima prioridad de conservación. Estudiamos la composición específica, abundancia relativa, riqueza y diversidad de los micromamíferos del PNBPJ, pobremente documentada hasta el momento. Durante marzo de 2010, 2011, 2012 y 2013 realizamos capturas en los ambientes más representativos del PNBPJ (cañadones, estepa arbustiva y estepa subarbustiva); y presentamos los resultados del análisis de egagrópilas de Tyto alba y Bubo magellanicus recolectadas ocasionalmente entre los meses de enero y abril de 2002, 2004 y 2009 en el área protegida. Identificamos un total de 10 especies de micromamíferos: Lestodelphys halli, Abrothrix olivacea, Eligmodontia morgani, Notiomys edwardsii, Graomys griseoflavus, Phyllotis xanthopygus, Reithrodon auritus, Euneomys chinchilloides, Microcavia australis, y Ctenomys magellanicus. La especie más abundante en las capturas fue Eligmodontia morgani (67.55%) y no existieron diferencias significativas en las abundancias de las distintas especies entre los tres ambientes muestreados. La estepa subarbustiva presentó unos valores de riqueza y diversidad específica ligeramente inferiores a los de los otros dos ambientes, cuyos valores fueron muy similares entre sí. Nuestros resultados concuerdan con lo esperado para ensambles de micromamíferos de áreas no protegidas asociados con el Macizo del Deseado y el valle del río Deseado, donde se localiza el PNBPJ. Se discuten las características del ensamble del PNBPJ desde el punto de vista eco-geográfico, y se comparan con ensambles similares situados en la misma latitud.
The waste-to-energy (WTE) incinerator plant located in the Turin area (Italy) started to recover energy from the combustion of municipal solid waste in 2013. A health surveillance program was ...implemented to evaluate the potential health effects on the population living near the plant. This program included a longitudinal biomonitoring to evaluate temporal changes of some environmental pollutants, including polycyclic aromatic hydrocarbons (PAHs), in residents living in areas near the Turin incinerator (exposed group, E) compared to those observed in subjects living far from the plant (not exposed group, NE). Ten monohydroxy-PAHs (OH-PAHs), consisting in the principal metabolites of naphthalene, fluorine, phenanthrene, and pyrene, were analyzed in urines collected from the E and NE subjects after one (T1) and three years (T2) of plant activity and compared with those determined in the same cohort established before the plant start-up (T0). Spearman correlation analysis was undertaken to explore possible associations between OH-PAHs and personal characteristics, lifestyle variables, and dietary habits. A linear mixed model (LMM) approach was applied to determine temporal trends of OH-PAHs observed in the E and NE subjects and to evaluate possible differences in trend between the two groups. Temporal trends of OH-PAHs determined by LMM analysis demonstrated that, at all times, the E group had concentrations lower than those assessed in the NE group, all other conditions being equal. Moreover, no increase in OH-PAH concentrations was observed at T1 and T2 either in E or in NE group. Significant positive correlations were found between all OH-PAHs and smoking habits. Regarding variables associated to outdoor PAH exposure, residence near high traffic roads and daily time in traffic road was positively correlated with 1-hydroxynaphthalene and 1-hydroxypyrene, respectively. In conclusion, no impact of the WTE plant on exposure to PAHs was observed on the population living near the plant.
Display omitted
•Human exposure to waste incinerator emissions is of great concern.•No impact of the WTE plant was observed on human exposure to PAHs.•OH-PAH levels did not increase after one and three years of incinerator activity.•Temporal trends of OH-PAH levels did not differ among exposed and not-exposed group.
Due to their rare prevalence and marked heterogeneity, pediatric cardiomyopathies (CMPs) are little known and scarcely reported. We report the etiology, clinical profile and outcome of a consecutive ...cohort of children diagnosed with CMP and followed at Meyer Children's Hospital over a decade.
We retrospectively reviewed patients consecutively referred from May 2008 to May 2019 for pediatric onset CMP (<18 years). Heart disease caused by arrhythmic disorders, toxic agents, rheumatic conditions and maternal disease were excluded.
We enrolled 110 patients (65 males), diagnosed at a median age of 27 4-134 months; 35% had an infant onset (<1 year of age). A positive family history was more often associated with childhood-onset (38.8%). Hypertrophic cardiomyopathy (HCM; 48 patients) was the most frequent phenotype, followed by dilated cardiomyopathy (DCM; 35 patients). While metabolic and idiopathic etiologies were preponderant in infants, metabolic and sarcomeric diseases were most frequent in the childhood-onset group. Major adverse cardiac events (MACE) occurred in 31.8% of patients, including hospitalization for acute heart failure in 25.5% of patients, most commonly due to DCM. Overall, the most severe outcomes were documented in patients with metabolic diseases.
In a consecutive cohort of pediatric patients with CMP, those with infantile onset and with a metabolic etiology had the worst prognosis. Overall, MACE occurred in 41% of the entire population, most commonly associated with DCM, inborn errors of metabolism and genetic syndromes. Systematic NGS genetic testing was critical for etiological diagnosis and management.
In September 2013 a waste-to-energy (WTE) incinerator located in the Turin area (Piedmont, Northern Italy) started to produce energy by the incineration of municipal solid wastes. The plant, one of ...the largest WTE incinerator in Europe, burns up to 490,000 tons of waste per year. A health surveillance program was implemented in order to evaluate the potential health effects on the population living near the plant. This program included a biomonitoring study aimed at assessing levels of several environmental contaminants including, among others, PCDDs, PCDFs, and PCBs. Before the WTE incinerator start-up (T0), a group of 85 subjects (41 “exposed” and 44 “not exposed” subjects) was randomly selected for enrollment by the local health units among individuals aged 36–50 years who had been living in the same area for at least five years prior to the study. Subjects were balanced by exposure area, sex and five-year age classes. As from the study design, the same cohort was re-evaluated after three years of incinerator activity (T2). A parallel study was conducted on a group of 12 farmers living and/or working in farms located in an area in the range of 5 km around the incinerator. Results of this study did not evidence any impact of the WTE plant on human exposure to PCDDs, PCDFs, and PCBs. In fact, no significant differences were found in the concentrations of PCDDs + PCDFs, DL-PCBs, and NDL-PCBs measured in the population group residing near the plant after three years of activity (T2) with respect to the control group. A significant decrease of serum concentrations of all the analytes was observed at T2 in both groups compared to T0. Serum concentrations of PCDDs, PCDFs, and PCBs in the group of farmers were higher than those observed in the adult population under study.
Display omitted
•Human exposure to waste incinerator emissions is of great concern.•No impact of the WTE plant was observed on human exposure to PCDDs, PCDFs, and PCBs.•PCDD, PCDF and PCB decrease was observed at T2 in exposed and not exposed groups.•Observed concentrations of PCDDs, PCDFs, and PCBs were higher in females.
This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare ...multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration. Anecdotal findings in our large sample seem to provide interesting clues about the protean mechanisms of brain injury in this rare disease and further highlight the broad spectrum of MR imaging findings that might be expected while imaging a child with the suspicion of or a known diagnosis of Menkes disease.
Zellweger syndrome (ZS) is a congenital autosomal recessive disease within the spectrum of peroxisome biogenesis disorders, characterized by the impairment of peroxisome assembly. The presence of ...peroxisome enzyme deficiencies leads to complex developmental sequelae, progressive disabilities, and multiorgan damage, due to intracellular accumulation of very-long-chain fatty acids (VLCFAs).
We report the case of an infant affected by ZS in which agammaglobulinemia, detected through neonatal screening of congenital immunodeficiencies, appeared as a peculiar trait standing out among all the other classical characteristics of the syndrome. The exome analysis through next-generation sequencing (NGS), which had previously confirmed the diagnostic suspicion of ZS, was repeated, but no mutations causative of inborn error of immunity (humoral defect) were detected.
In this case, no genetic variants accountable for the abovementioned agammaglobulinemia were detected. Given that the scientific literature reports the involvement of peroxisomes in the activation of Nuclear Factor κ-light-chain-enhancer of activated B cells (NF-κB) pathway, which is crucial for B-cell survival, with this work, we hypothesize the existence of a link between ZS and humoral immunodeficiencies. Further studies are required to confirm this hypothesis.
•Zn ferrites nanograins were prepared by milling and with grain sizes controlled by heat treatment.•Zn ferrites nanograins have a large number of cationic inversions and ordering temperature near to ...300 K.•Zn ferrites, with grain sizes at 14–17 nm interval, still present uncompensated Fe spins.•Cluster glass-like behavior observed below 30 K due to magnetic grain interactions.
Structural and magnetic properties of ZnFe2O4 nanograins, prepared by high-energy ball milling and annealed, were systematically studied by X-ray diffraction, 57Fe Mössbauer spectroscopy and AC magnetic susceptibility measurements. Disordered spinel-like structure, with a grain size of 12 nm, is established after 200 h of milling. While the 300 K Mössbauer spectrum of the as-milled sample (200 h) displays broad magnetic absorption lines, characteristic of a disordered system, the magnetization data do not show a magnetic phase transition between 4 and 300 K. At low temperatures, the Mössbauer spectra suggest the presence of two distinct ferrite magnetic phases: one attributed to the grain core (crystalline-like phase), with magnetic ordering temperature of about 90 K, and one showing a magnetic hyperfine field distribution; the latter is associated with a chemically disordered phase (grain boundary contributions). Annealing the 200 h sample at 973 K leads to an improvement of atomic ordering of the spinel structure (reduction of cationic inversion) and average grain size of about 17 nm. AC magnetic susceptibility shows a cusp at about T≈30K, whilst Mössbauer experiments in the same sample reveal magnetic blocking in the same temperature range. The frequency dependence of susceptibility suggests the formation of a cluster-glass-like state. High temperature susceptibility can be described with a Fulcher law of interacting magnetic clusters.
PDF
