New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study

Purpose Many questions concerning Turner syndrome (TS) remain unresolved, such as the long-term complications and, therefore, the optimal care setting for adults. The primary aim of this long-term cohort study was to estimate the incidence of comorbid conditions along the life course. Methods A total of 160 Italian patients with TS diagnosed from 1967 to 2010 were regularly and structurally monitored from the diagnosis to December 2019 at the University Hospital of Bologna using a structured multidisciplinary monitoring protocol. Results The study cohort was followed up for a median of 27 years (IQR 12-42). Autoimmune diseases were the comorbid condition with the highest incidence (61.2%), followed by osteoporosis and hypertension (23.8%), type 2 diabetes (16.2%) and tumours (15.1%). Median age of onset ranged from 22 years for autoimmune diseases to 39 years for type 2 diabetes. Malignant tumours were the most prominent type of neoplasm, with a cumulative incidence of 11.9%. Papillary thyroid carcinoma was the most common form of cancer, followed by skin cancer and cancer of the central nervous system. Only one major cardiovascular event (acute aortic dissection) was observed during follow-up. No cases of ischaemic heart disease, heart failure, stroke or death were recorded. Conclusions This cohort study confirms the need for continuous, structured and multidisciplinary lifelong monitoring of TS, thus ensuring the early diagnosis of important comorbid conditions, including cancer, and their appropriate and timely treatment. In addition, these data highlight the need for the increased surveillance of specific types of cancer in TS, including thyroid carcinoma

Impact of Molecular Genetics on Congenital Adrenal Hyperplasia Management

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the enzymes involved in one of the 5 steps of adrenal steroid synthesis or the electron donor P450 oxidoreductase (POR) enzyme. Steroid 21-hydroxylase deficiency (21-OHD), the principal focus of this review, accounts for about 90-95% of all CAH cases, and its biochemical and clinical severity depends on the underlying CYP21A2 gene disruption. Molecular genetic advancements have been achieved in recent years, and the aim of this review is to attempt to highlight its contribution to the comprehension and management of the disease. When possible, we will try to achieve this goal also by providing some results from our personal experience regarding: some aspects of CYP21A2 gene analysis, with basic genotype/phenotype relationships; its crucial role in both genetic counselling and in prenatal diagnosis and treatment in families at risk for 21-OHD; its help in the comprehension of the severity of the disease in patients diagnosed by neonatal screening and possibly treated before an evident salt-loss crisis or before performing adequate blood sampling; its usefulness in the definition of post ACTH 17-hydroxyprogesterone values, discriminating between non-classic, heterozygote and normal subjects; and finally the contribution of genes other than CYP21A2 whose function or dysfunction could influence 21-hydroxylase activity and modify the presentation or management of the disease

Teachers’ Self-Efficacy during the COVID-19 Pandemic in Greece: The Role of Risk Perception and Teachers’ Relationship with Technology

The COVID-19 pandemic has led to a sudden and radical transition from face-to-face to online teaching across the globe. This shift has required teachers to quickly adapt their educational practices, which has had an impact on their perceived self-efficacy. The limited literature on the impact of COVID-19 on teachers’ self-efficacy (TSE) has focused mostly on online teaching. The purpose of this study was to investigate TSE in both face-to-face and distant learning environments amid the COVID-19 pandemic. It also aimed to explore the impact of teachers’ relationship with technology and COVID-19 risk perception on their TSE. The sample was composed of 290 pre-service and in-service teachers from Greece who completed an online self-report survey. Results showed that pre-service teachers reported higher levels of TSE than in-service teachers, especially in distance learning environments. COVID-19 risk perception was not a significant predictor of TSE. By contrast, higher scores in self-assessed skills of the pedagogical applications of technology predicted TSE in both instructional settings. The present findings confirm the importance of promoting technological skills to enhance the self-efficacy of schoolteachers in both traditional and virtual instructional settings, regardless of the crisis due to the COVID-19 pandemic. © 2022 by the authors

Erratum: Impact of Molecular Genetics on Congenital Adrenal Hyperplasia Management

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the enzymes involved in one of the 5 steps of adrenal steroid synthesis or the electron donor P450 oxidoreductase (POR) enzyme. Steroid 21-hydroxylase deficiency (21-OHD), the principal focus of this review, accounts for about 90–95% of all CAH cases, and its biochemical and clinical severity depends on the underlying <i>CYP21A2</i> gene disruption. Molecular genetic advancements have been achieved in recent years, and the aim of this review is to attempt to highlight its contribution to the comprehension and management of the disease. When possible, we will try to achieve this goal also by providing some results from our personal experience regarding: some aspects of <i>CYP21A2</i> gene analysis, with basic genotype/phenotype relationships; its crucial role in both genetic counselling and in prenatal diagnosis and treatment in families at risk for 21-OHD; its help in the comprehension of the severity of the disease in patients diagnosed by neonatal screening and possibly treated before an evident salt-loss crisis or before performing adequate blood sampling; its usefulness in the definition of post ACTH 17-hydroxyprogesterone values, discriminating between non-classic, heterozygote and normal subjects; and finally the contribution of genes other than <i>CYP21A2</i> whose function or dysfunction could influence 21-hydroxylase activity and modify the presentation or management of the disease

Transglutaminase-catalyzed polymerization of troponin in vitro

BACKGROUND: During myocardial ischemia, the increase in cytosolic Ca2+ promotes the activation of neutral proteases such as calpains. Since the troponin T subunit is a substrate for calpains, we investigated the effects of irreversible myocyte damage on troponin T immunoreactivity. METHODS AND RESULTS: Hearts from adult guinea pigs (n=32) were perfused under conditions of normoxia, ischemia, postischemic reperfusion, or Ca2+ paradox. Hearts were frozen and processed for immunohistochemistry and Western blot with three anti-troponin T monoclonal antibodies. Two of these antibodies are unreactive on cryosections of freshly isolated and normoxic hearts and of hearts exposed to 30 minutes of no-flow ischemia. In contrast, reactivity is detected in rare myocytes after 60 minutes of ischemia, in a large population of myocytes after 60 minutes of ischemia followed by 30 minutes of reperfusion, and in every myocyte exposed to Ca2+ paradox. In Western blots, samples from ischemia-reperfusion and Ca2+ overloaded hearts show reactive polypeptides of about 240 to 260 kD and 65 to 66 kD in addition to troponin T. A similar pattern of immunoreactivity is observed with an anti-troponin I antibody. Histochemical troponin T immunoreactivity and reactivity on high-molecular-weight polypeptides are detectable in normal heart samples after preincubation with 10 mmol/L Ca2+ or with transglutaminase, whereas they are not if either transglutaminase or calpain is inhibited. CONCLUSIONS: The evolution of the ischemic injury is accompanied by changes in troponin T immunoreactivity as a consequence of the calcium-dependent activation of both calpain proteolysis and transglutaminase cross-linking

Non classical CAH: molecular evaluation of 287 subjects from northern and southern Italy with comparison between genetical and hormonal results.

Background Non classical congenital adrenal hyperplasia (NC-CAH) due to 21-hydroxylase deficiency (21OHD) is one of the most common inherited defects of steroidogenesis. It is caused by mutations in the CYP21A2 gene that can be grouped in three categories according to the predicted level of enzymatic activity: A (complete loss of activity), B (severe) and C (mild). Objective and hypothesis The genetic characterization of suspected NC-CAH subjects with stimulated 17OHP values ranging from 800 and 15.000 ng/dl in order to: investigate the genotype and the contribution of the 1st and 2nd allele on the 17OHP levels; review the pathologic hormonal levels. Population and/or methods 287 subjects were investigated by complete sequencing of the CYP21A2 gene and by MLPA using the MRC-Holland P050B2 kit in order to identify all possible mutations including variation of the copy number. Results The 71.8% of the subjects showed both the alleles affected (37.4 % are compound heterozygous C/C, the 15.5 % are C/B and the 43.7 % are C/A), the 21.2 % resulted heterozygous and 7% normal. Among the group C/C the 50.6 % of the subjects are homozygous for V281L mutation. Taking into account the different mutations present in the 1st allele we found that the levels of 17OHP both basally and stimulated were progressively and significantly higher than the other group when the characterizing mutations were P482S, 3’UTR 13 G>A, P453S, V281L or P30L, respectively. Also the 2nd allele showed an influence on basal and stimulated 17OHP if the 1st allele is setted (i.e. V281L mutation). The V281L mutation is more frequent in the South Italian patients, instead the 3’UTR *13 G>A and the genic deletion are more frequent in North Italian patients. Precise conclusions Among affected subjects, the 94% showed 17OHP stimulated values >2000 ng/dl and only 1% values <1000 ng/d