In this work, we aim to highlight the increasing interest in semiconductors, particularly ZnO. A revision of the evolution of the scientific production on three selected topics has been conducted. As ...an indicator of scientific production, the number of publications indexed in the Web of Science Data Base has been used. The search terms selected range from the general to the particular: semiconductors, oxide semiconductors, and ZnO. The period considered is from 1 January 1900 to 6 June 2023. The importance of doping processes in tailoring the properties of these materials, and the relevance of the most recently derived applications are also revised. Since many of the most recent applications that have been developed or are under development refer to optoelecronic properties, doping with rare earth elements has a central role. This was the reason behind choosing the system ZnO doped with Rare Earth elements (Eu, Gd, and Ce) and codoped with Ru to illustrate the materials’ tuning potential of doping processes. Morphology, crystal structure, and luminescent properties have been investigated. Upon doping, both the Near Band Edge and the Deep Level emissions show a remarkable difference due to the change in the relative weight of the components constituting these bands. The spectra in all cases extend over the whole visible range, with a main emission in the violet-blue region corresponding to the Near Band Edge, and a broad band extending from the blue-green to orange-red region associated with the presence of different defects.
Replicative stress during embryonic development influences ageing and predisposition to disease in adults. A protective mechanism against replicative stress is provided by the licensing of thousands ...of origins in G1 that are not necessarily activated in the subsequent S-phase. These 'dormant' origins provide a backup in the presence of stalled forks and may confer flexibility to the replication program in specific cell types during differentiation, a role that has remained unexplored. Here we show, using a mouse strain with hypomorphic expression of the origin licensing factor mini-chromosome maintenance (MCM)3 that limiting origin licensing in vivo affects the functionality of hematopoietic stem cells and the differentiation of rapidly-dividing erythrocyte precursors. Mcm3-deficient erythroblasts display aberrant DNA replication patterns and fail to complete maturation, causing lethal anemia. Our results indicate that hematopoietic progenitors are particularly sensitive to replication stress, and full origin licensing ensures their correct differentiation and functionality.
Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by ...mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the
gene have novel nonsense mutations (p.Arg63Ter and Asp36ThrfsTer96). Three families have mutations in the
gene, one case has one previously unreported mutation (Family A-p.Asp680Tyr) and two cases have known pathogenic mutations (Family B and D-p.Trp781Ter and p.Gln672Ter respectively). Clinical, biochemical, and genetic data are discussed in all these cases. These rare cases of non-HFE related hereditary hemochromatosis highlight the importance of an earlier molecular diagnosis in a specialized center to prevent serious clinical complications.
Aims
To describe the natural history of SARS‐CoV‐2 infection in patients with hypertrophic cardiomyopathy (HCM) compared with a control group and to identify predictors of adverse events.
Methods and ...results
Three hundred and five patients age 56.6 ± 16.9 years old, 191 (62.6%) male patients with HCM and SARS‐Cov‐2 infection were enrolled. The control group consisted of 91 131 infected individuals. Endpoints were (i) SARS‐CoV‐2 related mortality and (ii) severe clinical course death or intensive care unit (ICU) admission. New onset of atrial fibrillation, ventricular arrhythmias, shock, stroke, and cardiac arrest were also recorded. Sixty‐nine (22.9%) HCM patients were hospitalized for non‐ICU level care, and 21 (7.0%) required ICU care. Seventeen (5.6%) died: eight (2.6%) of respiratory failure, four (1.3%) of heart failure, two (0.7%) suddenly, and three (1.0%) due to other SARS‐CoV‐2‐related complications. Covariates associated with mortality in the multivariable were age {odds ratio (OR) per 10 year increase 2.25 95% confidence interval (CI): 1.12–4.51, P = 0.0229}, baseline New York Heart Association class OR per one‐unit increase 4.01 (95%CI: 1.75–9.20), P = 0.0011, presence of left ventricular outflow tract obstruction OR 5.59 (95%CI: 1.16–26.92), P = 0.0317, and left ventricular systolic impairment OR 7.72 (95%CI: 1.20–49.79), P = 0.0316. Controlling for age and sex and comparing HCM patients with a community‐based SARS‐CoV‐2 cohort, the presence of HCM was associated with a borderline significant increased risk of mortality OR 1.70 (95%CI: 0.98–2.91, P = 0.0600).
Conclusions
Over one‐fourth of HCM patients infected with SARS‐Cov‐2 required hospitalization, including 6% in an ICU setting. Age and cardiac features related to HCM, including baseline functional class, left ventricular outflow tract obstruction, and systolic impairment, conveyed increased risk of mortality.
Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by ...mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the HFE2 gene have novel nonsense mutations (p.Arg63Ter and Asp36ThrfsTer96). Three families have mutations in the TFR2 gene, one case has one previously unreported mutation (Family A—p.Asp680Tyr) and two cases have known pathogenic mutations (Family B and D—p.Trp781Ter and p.Gln672Ter respectively). Clinical, biochemical, and genetic data are discussed in all these cases. These rare cases of non-HFE related hereditary hemochromatosis highlight the importance of an earlier molecular diagnosis in a specialized center to prevent serious clinical complications.
PDF
