Work-related stress, anxiety and depression (WRSAD) are common, overlapping mental health problems burdened with major medical, occupational, institutional and societal implications. Current ...occupational health (OH) management of WRSAD is based on clinical and managerial guidelines and individual risk assessment.
The study sought to identify patterns of OH advice in WRSAD and the relationships between the OH advice, available evidence, experience and expertise of the OH doctors (OHDs).
A retrospective cross-sectional analysis of 101 first-time OH consultations for WRSAD by nine OHDs.
The three most common OH interventions included follow-up OH consultations, adjusted duties and referrals for counselling. All OHDs preferred a light-touch approach but the less experienced and qualified OHDs were more proactive and prescriptive.
In the absence of a specific occupational medical guideline for the management of WRSAD, the OH interventions may be guided by clinical guidelines, individual risk assessment, the client's circumstances or the experience, expertise and preferences of the OHDs. In the study group, OH interventions were under-utilized and not consistently applied. Our findings support the argument for OH guideline for WRSAD to improve the consistency and effectiveness of OH interventions. This is important given the scale of the problem and the recent increase in WRSAD during the COVID-19 pandemic.
The European Union Floods Directive requires the establishment of flood maps for high risk areas in all European member states by 2013. However, the current practice of flood mapping in Europe still ...shows some deficits. Firstly, flood maps are frequently seen as an information tool rather than a communication tool. This means that, for example, local stocks of knowledge are not incorporated. Secondly, the contents of flood maps often do not match the requirements of the end-users. Finally, flood maps are often designed and visualised in a way that cannot be easily understood by residents at risk and/or that is not suitable for the respective needs of public authorities in risk and event management. The RISK MAP project examined how end-user participation in the mapping process may be used to overcome these barriers and enhance the communicative power of flood maps, fundamentally increasing their effectiveness. Based on empirical findings from a participatory approach that incorporated interviews, workshops and eye-tracking tests, conducted in five European case studies, this paper outlines recommendations for user-specific enhancements of flood maps. More specific, recommendations are given with regard to (1) appropriate stakeholder participation processes, which allow incorporating local knowledge and preferences, (2) the improvement of the contents of flood maps by considering user-specific needs and (3) the improvement of the visualisation of risk maps in order to produce user-friendly and understandable risk maps for the user groups concerned. Furthermore, "idealised" maps for different user groups are presented: for strategic planning, emergency management and the public.
We report on an 18-month-old boy conceived by assisted reproduction technology with developmental delay, hypotonia, microcephaly, frontal bossing, a mild convergent squint, malformed ears, and a ...short neck. Karyotype analysis revealed a de novo 7q21.1q22.3 duplication characterized by array comparative genomic hybridization (array-CGH) as a segment of 18.69 Mb. Duplications of the long arm of chromosome 7 are uncommon. There are 18 reported cases of different 7q segments with a pure duplication with no additional deletion of other chromosomes. As a consequence, duplications of chromosome 7q have been classified in 4 groups on the basis of the involved region. The present case is included in group 3 which involves interstitial duplications of different sizes. In the literature, only one case with an apparently smaller duplication of the same region has been described. Despite this, the phenotype is different. Moreover, the 2 patients share some phenotypic features, such as psychomotor delay, hypotonia, frontal bossing, short neck, and strabismus. However, the absence of physical characterization in most of the reported cases could justify the lacking phenotype-genotype correlation in patients with partial 7q duplication. Further studies using recent molecular approaches such as array-CGH might permit a more clinically useful grouping of 7q duplications.
Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed technique able to evidence variations in the copy number of several human genes. Due to this ability, MLPA can be ...used in the molecular diagnosis of several genetic diseases whose pathogenesis is related to the presence of deletions or duplications of specific genes. Moreover, MLPA assay can also be used in the molecular diagnosis of genetic diseases characterized by the presence of abnormal DNA methylation. Due to the large number of genes that can be analyzed by a single technique, MLPA assay represents the gold standard for molecular analysis of all pathologies derived from the presence of gene copy number variation. In this review, the main applications of the MLPA technique for the molecular diagnosis of human diseases are described.
Myelodysplastic syndrome (MDS) is an adult hematological disease that evolves into acute myeloid leukemia (AML) in about 30% of the cases. The availability of a highly specific probe moved us to ...perform in patients affected with MDS/AML, associated with normal karyotype, painting and fluorescence in situ hybridization (FISH) analysis aimed to check the inositide-specific phospholipase C (PI-PLC) β1 gene, a player in the control of some checkpoints of the cell cycle. Here we present a preliminary observation in which FISH analysis disclosed in a small group of MDS/AML patients with normal karyotype the monoallelic deletion of the PI-PLCβ1 gene. On the contrary, PI-PLC β4, another gene coding for a signaling molecule, located on 20p12.3 at a distance as far as less than 1Mb from PI-PLCβ1, is unaffected in MDS patients with the deletion of PI-PLC β1 gene, hinting at an interstitial deletion. The MDS patients, bearing the deletion, rapidly evolved to AML. The data suggest the possible involvement of PI-PLCβ1 in the progression of the disease and pave the way for a larger investigation aimed at identifying a possible high-risk group among MDS patients with a normal karyotype.
Deficit of the short stature homeobox containing gene (SHOX) accounts for 2.15% of cases of idiopathic short stature (ISS) and 50-100% of cases of Leri-Weill dyschondrosteosis (LWD). It has been ...demonstrated that patients with SHOX deficit show a good response to treatment with GH. Thus, the early identification of SHOX alterations is a crucial point in order to choose the best treatment for ISS and LWD patients. In this study, we analyze the most commonly used molecular techniques for the detection of SHOX gene alterations. multiple ligation-dependent probe amplification analysis appears to represent the gold standard for the detection of deletion involving the SHOX gene or the enhancer region, being able to show both alterations in a single assay.
The use of titanium plates and screws for osteosynthesis is considered to be an effective treatment for different kinds of fractures in orthopedic surgery. The aim of the present study is to test the ...ability of titanium screws to promote the growth of osteoblasts obtained from human amniotic fluid stem cells (AFS). Osteoblastic differentiation was assessed by RT-PCR of specific markers such as COL1, ONC, OPN, OCN, OPG, BMP-4 and Runx2. Mineralization was demonstrated by the presence of red depositions. Adherent cells were found to cover the whole surface of titanium screw by Scanning Electron Microscopy (SEM). The result indicates the excellent growth of osteoblasts obtained from amniotic fluid on a titanium surface and could represent an important point in view of a possible therapeutic application of AFS cells.
The p.M172K TFR2 mutation was identified in two Italian siblings aged 32 and 40 years old with primary iron overload. The two patients showed a severe increase in serum iron indices. From the age of ...25, the male sib also revealed abnormal levels of hepatic enzymes, presumably in relation to iron induced liver damage. Clinical findings seem to evidence that type 3 hemochromatosis can be more serious than classic hemochromatosis. This report adds two more type 3 hereditary hemochromatosis cases which suggest that TFR2 mutations could be more frequently involved in non-HFE hemochromatosis than has been actually thought.
Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to ...evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Probands were classified as BRCAPro positive (n = 67) when the carrier probability (CP) was >10% and as BRCAPro negative (n = 110), when the CP was <10%. Conventional mutational analyses of the BRCA1/2 genes and, in one case, of p53 identified 22 pathogenetic germline mutations, 12 in BRCA1, 9 in BRCA2 and 1 in p53, in 22/177 (12.4%) probands. All the mutations except one were detected in BRCAPro-positive patients. In the 46 BRCAPro-positive cases that resulted negative by BRCA1/2 mutation, screening analysis of rearrangements within BRCA1/2 by MLPA was carried out. Three patients with a very high CP showed BRCA1 deletions, consisting of deletions of exons 1–2 in two probands and of exon 24 in the third proband. In one case, the exons 1–2 deletion was shown to cosegregate with disease in the family. No BRCA2 rearrangements were detected, but one patient showed the 1100delC of the CHEK2 gene, whose probe is present in the BRCA2 kit. In our series, the highest carrier detection rate of mutation screening plus MLPA analysis (52.3%) was in patients with a BRCAPro CP >50%.
Other genetic or environmental factors affecting the phenotype of patients with AZFc deletions must be present. Since one in six couples requires assisted reproduction for a pregnancy, knowledge of ...the phenotype resulting from the transmission of a Yq microdeletion is crucial.
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