Psychology and hereditary angioedema: A systematic review

Background: Hereditary angioedema (HAE) is caused by mutations in the C1 inhibitor (C1-INH) gene Serpin Family G Member 1(SERPING1), which results in either the decreased synthesis of normal C1-INH (C1-INH–HAE type I) or expression of unfunctional C1-INH (C1-INH–HAE type II). In recent studies, emotional stress was reported by patients as the most common trigger factor for C1-INH–HAE attacks. Moreover, patients reported considerable distress over the significant variability and uncertainty with which the disease manifests, in addition to the impact of physical symptoms on their overall quality of life. Objective: We did a systematic review of the literature to shed light on the advancements made in the study of how stress and psychological processes impact C1-INH–HAE. Methods: All of the articles on C1-INH–HAE were analyzed up to December 2019. Both medical data bases and psychological data bases were examined. The keywords (KWs) used for searching the medical and psychological data bases were the following: “hereditary angioedema,” “psychology,” “stress,” “anxiety,” and “depression.” Results: Of a total of 2549 articles on C1-INH–HAE, 113 articles were retrieved from the literature search by using the related KWs. Twenty-one of these articles were retrieved, examined, and classified. Conclusion: Although the literature confirmed that stress may induce various physical diseases, it also warned against making simplistic statements about its incidence that did not take into account the complexity and multicausality of factors that contribute to C1-INH–HAE expression

Cell cultures harbouring constructs of different pig promoter polymorphisms show different transcriptional efficiency in gene reporter systems

AbstractProduction traits variability among and within breeds, differences among developmental stages or the response to different environments are in part due to genetic factors that affect gene expression. Within the context of an Italian FIRB project, whose objective is to identify genes and molecular mechanisms affecting meat quality and production traits in pig, we studied the promoter regions of candidate genes selected on the basis of their physiological role in animal tissue development or composition. Genomic DNA was isolated from liver or muscle tissue of individuals belonging to Large White and Casertana breed. PCR primers were designed to amplify 5' upstream region of SCD (Stearoyl-CoA Desaturase), LDLR (Low Density Lipoprotein Receptor), LEP (Leptin), MSTN (Myostatin), ACTA1 (Alpha-actin) and HFABP (Heart Fatty Acid Binding Protein) genes using sequences available at NCBI. A total of 19 single nucleotide polymorphisms (SNPs) not previously described were characterised. Some haplotypes, harbou..

Children on the Autism Spectrum and the Use of Virtual Reality for Supporting Social Skills

Background: Autism spectrum disorders (ASDs) are characterized by differences in socio-pragmatic communication. These conditions are allocated within a “spectrum” of phenotypic variability. Virtual reality (VR) is a useful tool for healthcare intervention and particularly safely advancing social abilities in children with ASD. Methods: In our study two types of intervention for improving social skills were compared: (i) emotional training obtained by the use of virtual reality (Gr1), (ii) traditional emotional training performed individually with a therapist (Gr2). We aimed to identify the intervention with the shortest acquisition time for the proposed social tasks. Results: Our findings show that both types of intervention had the same acquisition time for the recognition of primary emotions. However, for the use of primary and secondary emotions, the group using VR showed shorter acquisition times. Conclusions: These findings together with previous preliminary datasuggest that VR can be a promising, dynamic and effective practice for the support of basic and complex social skills of these individuals

Trophic effects of sponge feeding within Lake Baikal\u27s littoral zone .2. Sponge abundance, diet, feeding efficiency, and carbon flux

Endemic freshwater demosponges in the littoral zone of Lake Baikal, Russia, dominate the benthic biomass, covering 44% of the benthos. We measured in situ sponge abundance and,orating and calculated sponge-mediated Fluxes of picoplankton (plankton \u3c2 mu m) for two common species, Baikalospongia intermedia and Baikalospongia bacillifera. By means of dual-beam how cytometry, we found retention efficiencies ranging from 58 to 99% for four types of picoplankton: heterotrophic bacteria, Synechococcus-type cyanobacteria, autotrophic picoplankton with one chloroplast, and autotrophic picoplankton with two chloroplasts. By using a general model for organism-mediated fluxes, we conservatively estimate that through active suspension feeding, sponges are a sink for 1.97 g C d(-1) m(-1), mostly from procaryotic cell types. Furthermore, grazing by these extensive sponge communities can create a layer of picoplankton-depleted water overlying the benthic community in this unique lake

Convexal subarachnoid hemorrhage and acute ischemic stroke: a border zone matter?

Background Convexal subarachnoid hemorrhage (c-SAH) is an infrequent condition with variable causes. c-SAH concomitant to acute ischemic stroke (AIS) is even less frequent, and the relationship between the two conditions remains unclear. Methods Between January 2016 and January 2018, we treated four patients who were referred to our stroke unit with ischemic stroke and concomitant nontraumatic c-SAH. The patients underwent an extensive diagnostic workup, including digital subtraction angiography (DSA). Results All four patients developed acute focal neurological symptoms with restricted MRI diffusion in congruent areas. In three of the patients, infarcts were in a border zone between the main cerebral arteries and c-SAH was nearby. The fourth patient showed a small cortical infarct, and c-SAH was in a border zone territory of the contralateral hemisphere. An embolic source was discovered or strongly suspected in all cases. One patient was treated with intravenous thrombolysis, but this treatment was not related to c-SAH. None of the four patients showed microbleeds or further cortical siderosis, thus excluding cerebral amyloid angiopathy. In addition, DSA did not show signs of vasculitis, reversible cerebral vasoconstriction syndrome, or intracranial arterial dissection. Conclusions We proposed the embolism or hemodynamic changes of the border zone arterioles as a unifying pathogenetic hypothesis of coexisting c-SAH and AIS

Panorama of the distal myopathies

Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of muscle weakness (upper versus lower limbs) and the histological findings (ranging from nonspecific myopathic changes to myofibrillar disarrays and rimmed vacuoles) are extremely variable. However, despite being characterized by a wide clinical and genetic heterogeneity, the distal myopathies are a category of muscular dystrophies: genetic diseases with progressive loss of muscle fibers. Myopathic congenital arthrogryposis is also a form of distal myopathy usually caused by focal amyoplasia. Massive parallel sequencing has further expanded the long list of genes associated with a distal myopathy, and contributed identifying as distal myopathy-causative rare variants in genes more often related with other skeletal or cardiac muscle diseases. Currently, almost 20 genes (ACTN2, CAV3, CRYAB, DNAJB6, DNM2, FLNC, HNRNPA1, HSPB8, KHLH9, LDB3, MATR3, MB, MYOT, PLIN4, TIA1, VCP, NOTCH2NLC, LRP12, GIPS1) have been associated with an autosomal dominant form of distal myopathy. Pathogenic changes in four genes (ADSSL, ANO5, DYSF, GNE) cause an autosomal recessive form; and disease-causing variants in five genes (DES, MYH7, NEB, RYR1 and TTN) result either in a dominant or in a recessive distal myopathy. Finally, a digenic mechanism, underlying a Welander-like form of distal myopathy, has been recently elucidated. Rare pathogenic mutations in SQSTM1, previously identified with a bone disease (Paget disease), unexpectedly cause a distal myopathy when combined with a common polymorphism in TIA1. The present review aims at describing the genetic basis of distal myopathy and at summarizing the clinical features of the different forms described so far. ©2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.Peer reviewe

Prognostic role of topoisomerase-IIα in advanced ovarian cancer patients

To our knowledge, very few data about the role of Topoisomerase IIα (TOPO-IIα), an enzyme involved in critical steps of tumour cell proliferation and chemoresistance are currently available in ovarian cancer patients. The aim of this study was to investigate the prognostic value of TOPO-IIα expression in a large, single institution series of 96 primary untreated advanced ovarian cancer patients admitted to the Gynecologic Oncology Unit, Catholic University of Campobasso and Rome. Immunohistochemistry was carried out by using the MoAb anti-human TOPO-IIα antibody (clone Ki-S1). TOPO-IIα immunoreaction was observed in 70 out of 96 cases (72.9%), and the percentages of positively stained cells ranged between 1 and 83% (median=10%). There was no association with clinico-pathological parameters. During the follow up period, progression and death of disease were observed in 76 (79.2%) and 45 (46.9%) cases. A statistically significant direct association between the percentages of positively immunostained tumour cells and the relative risk of death was observed (χ2=6.6, P-value=0.0101). In multivariate analysis, only platinum resistance, advanced stage of disease and high levels of TOPO-IIα expression retained an independent negative prognostic role for OS. The unfavourable role of high TOPO-IIα expression was maintained only in the subgroup of platinum resistant recurrent ovarian cancer patients, be TOPO-IIα expression evaluated as continuous variable (χ2=5.1, P-value=0.024), or by means of the defined cutoff point. Our study suggests that the assessment of TOPO-IIα could be helpful to identify poor prognosis platinum-resistant ovarian cancer patients, potentially candidates to investigational agents

Myoimaging in the NGS era: The discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features -a case report

Background: Myosin heavy chain 7 related myopathies are rare disorders characterized by a wide phenotypic spectrum and heterogeneous pathological features. In the present study, we performed clinical, morphological, genetic and imaging investigations in three relatives affected by autosomal dominant distal myopathy. Whilst earlier traditional Sanger investigations had pointed to the wrong gene as disease causative, next-generation sequencing allowed us to obtain the definitive molecular genetic diagnosis in the family.Case presentation: The proposita, being found to harbor a novel heterozygous mutation in the RYR1 gene (p. Glu294Lys), was initially diagnosed with core myopathy. Subsequently, consideration of muscle magnetic resonance imaging (MRI) features and extension of family study led this diagnosis to be questioned. Use of next-generation sequencing analysis identified a novel mutation in the MYH7gene (p.Ser1435Pro) that segregated in the affected family members.Conclusions: This study identified a novel mutation in MYH7 in a family where the conclusive molecular diagnosis was reached through a complicated path. This case report might raise awareness, among clinicians, of the need to interpret NGS data in combination with muscle MRI patterns so as to facilitate the pinpointing of the main molecular etiology in inherited muscle disorders

"Growing through relationship" - the Engagement of the Health Professional Students in the Internship Experience: a Grounded Theory Research

BACKGROUND AND AIM: Little is known about the students' engagement in the training experience and how it is lived by the health professional students. We aim at building a theoretical model of the engagement process starting from their lived experiences with Grounded Theory approach. METHODS: In-depth qualitative interviews are conducted with 12 students from the Master Degree Courses in Nursing, Physiotherapy and Prevention Techniques in the environment and in the workplace, who had carried out and/or were doing internships in the same territory (2nd and 3rd year). Results The health professions' student engagement in the training program is developed in three main phases: initial phase, central phase and final phase, where emotions, behaviours, awareness contribute to the development of the entire engagement process with different relevance. The intertwining of these different components that develop along the stages of the experience gives life to the core category: growing through relationship, which expressed the crucial role of the relational network built during the internship experience in shaping students' engagement. CONCLUSIONS: The results of this study underline the crucial role of students' engagement in the internship experience in favouring both better learning outcomes and perspective professional success and wellbeing. (www.actabiomedica.it)

Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations : A case report

Alpha-dystroglycanopathies are a group of progressive and untreatable neuromuscular disorders, due to aberrant alpha-dystroglycan glycosylation. We describe the effects of a short-term cycle of corticosteroid therapy in a 9-year-old boy, affected by an alpha-dystroglycanopathy due to GMPPB gene mutations. The patient was affected by a congenital progressive muscular dystrophy since the first month of life, associated with psychomotor delay, seizures, and congenital bilateral cataracts. Despite physical therapy he had a progressive motor impairment. At the age of 9 years, he was treated with 0.75 mg/kg/day of prednisone for 3 months and showed improvements in muscle strength and function scores and creatine kinase reduction. When steroid therapy was discontinued he showed again clinical and biochemical deterioration. These data suggest that corticosteroid may be considered as a treatment for patients with alpha-dystroglycanopathies due to GMPPB mutations. (C) 2018 Elsevier B.V. All rights reserved.Peer reviewe