Children’s total blindness as a risk factor for early parent-child relationships: preliminary findings from an Italian sample

BackgroundVision provides crucial information for parent-child attunement that scaffolds social development from the first months of life. Congenital blindness might affect both parental wellbeing and children’s behavior during parent-child interaction. In this study, we compared families of young children with total versus partial blindness to understand the link between residual vision, parenting stress and perceived social support, and children’s behavior during parent-child interaction.MethodsParticipants were 42 white parents (21 fathers and 21 mothers) and their congenitally blind children (14 females, mean age = 14.81 months, SD = 10.46) with no co-occurring disability, recruited at the Robert Hollman Foundation rehabilitation centers in Italy. Parents’ scores on the Parenting Stress Index and Multidimensional Scale of Perceived Social Support questionnaires, as well as children’s behaviors signaling joint engagement during video-recorded episodes of parent-child interaction, were compared between the Total Blindness (TB, n = 12 children with no light perception or light perception in the dark but no quantifiable visual acuity) and Partial Blindness (PB, n = 9 children with a residual visual acuity below 3/60) groups.ResultsWe found that parents of TB children had higher parenting stress and lower perceived social support scores than parents of PB children. In fathers, total stress and stress linked to perceiving the child as difficult negatively correlated with perceived support from friends. There was no difference in the time TB and PB children spent displaying joint engagement behaviors during parent-child interaction. However, TB children directed their gaze and face less often toward their parents than PB children. We observed a trend of association between this behavior and maternal stress.ConclusionThese preliminary results suggest that the complete absence of vision from birth has adverse effects on stress linked to parenting and parental perceived social support. These findings support the importance of early family-centered interventions that extend to the parents’ communities and facilitate the parent-child dyad’s communication through non-visual behaviors. Replication is warranted in larger and more diverse samples

Statin-associated necrotizing autoimmune myopathy with concurrent myasthenia gravis

Statin treatment has been associated with necrotizing autoimmune myopathy and has been linked to myasthenia gravis. We present an unprecedented clinical challenge with both disorders occurring in a patient treated with statins few months earlier

Management of Patients Diagnosed with Endometrial Cancer: Comparison of Guidelines

: Endometrial cancer is the most common gynecological malignancy in Europe and its management involves a variety of health professionals. In recent years, big discoveries were made concerning the management of patients diagnosed with endometrial cancer, particularly in the field of molecular biology and minimally invasive surgery. This requires the continuous updating of guidelines and protocols over the years. In this paper, we aim to summarize and compare common points and disparities among protocols for management of patients diagnosed with endometrial cancer by leading international gynecological oncological societies. We therefore systematically report the parallel among the guidelines based on the various steps patients with endometrial cancer usually undergo. The comparison between American and European protocols revealed some relevant disparities, in particular regarding surgical staging, molecular biology application as a prognostic tool and follow up regimens. This could possibly cause differences in interpreting and applying protocols in clinical practice in small centers, leading to a lack of adherence to guidelines or even prompting a confusing mix of them

The Surplus Effect in Adaptive Behaviour in Down Syndrome: What Can Promote It?

Background: In Down syndrome (DS), adaptive behaviour often shows a “surplus effect” (i.e., higher adaptive abilities than expected from cognitive skills). As inclusive schooling has become mandatory in Italy, we studied the impact of school inclusion on the surplus effect of adaptive behaviour in adult DS, considering potential confounding factors such as parental education. Methods: All consecutive DS individuals from three different sites were queried prospectively regarding type of schooling (inclusive and non-inclusive). Demographic data were documented; cognitive abilities and adaptive behaviour were assessed (Coloured Progressive Matrices and Vineland Adaptive Behaviour Scales). The aim was to establish the presence of a surplus effect in adaptive behaviour, primarily in the overall level and secondarily in the main domains and subdomains. A multivariable-adjusted logistic regression model was used for the association of schooling, and parental education. Results: The majority (65%) showed a surplus effect in adaptive behaviour and had attended inclusive schools (85%). Higher adaptive skills as well as early and longer functional treatment programmes were more readily available for younger individuals. In the group of inclusive schooling, the surplus effect on overall adaptive behaviour was present in 70% as opposed to 38% in the group without inclusive schooling, significant when adjusted for gender and maternal education. This was also observed in socialisation, written, and community, and after adjustment in playing and leisure time. Conclusions: Adaptive behaviour showed a surplus effect in the majority of DS adults, even more so after inclusive schooling. Younger adults showed higher adaptive skills. Moreover, female gender and higher maternal educational level significantly enhanced this surplus effect

Stroke incidence and 30-day and six-month case fatality rates in Udine, Italy:a population-based prospective study

Background Stroke incidence in high-income countries is reported to decrease, and new data on stroke incidence and outcome are needed to design stroke services and to ameliorate stroke management. Methods This study is part of a two-year prospective community-based registry of all cerebrovascular events in the district of Udine (153 312 inhabitants), Friuli-Venezia Giulia region, northeast of Italy, between 1 April 2007 and 31 March 2009. Overlapping sources for case finding were used, combining hot and cold pursuit. Results We identified 784 stroke cases, 640 (81·6%) incident. The crude overall annual incidence rate per 100 000 residents was 256 (95% confidence interval 241–271) for all strokes and 209 (95% confidence interval 195–223) for first-ever strokes. Incidence rate for first-ever strokes was 181 (95% confidence interval 155–211) after adjustment to the 2007 Italian population and 104 (95% confidence interval 88–122) compared with the European standard population. Incidence rates for first-ever strokes was 215 (196–235) for women, 202 (183–223) for men. Crude annual incidence rates per 100 000 population were 167 (153–178) for ischemic stroke, 31 (26–37) for intracerebral hemorrhage, 8·1 (5·7–11·4) for sub-arachnoid hemorrage, and 4·6 (2·8–7·1) for undetermined stroke. Overall case fatality rates for first-ever stroke were 20·6% at 28 days and 30·2% at 180 days. Conclusions Our study shows incidence rates higher than previously reported in our region but not supporting the view of higher incidence rates in Northern than in Southern Italy. Results contribute to time-trends analysis on epidemiology, useful for dimensioning services in Italy and show the persistence of a gap between the outcome of stroke in Italy and that of the best performing European countries, urging to adopt better stroke management plans. </jats:sec

Chitinolytic enzymes production by two marine isolates of Aspergillus pseudoterreus and Sydowia polyspora and investigation of their antagonistic interactions against fungal pathogens

Marine fungi are one of the most promising group of organisms in terms of ecological diversity, new enzyme and secondary metabolites detection, application in environmental sciences. In the present work, in order to evaluate the biotechnological potential of two marine strains, Aspergillus pseudoterreus and Sydowia polyspora, the production and activity of chitinolytic enzymes were investigated. Moreover the in vitro antagonistic activity towards plant, human and animal pathogenic fungi was investigated. The strains were isolated from Ulva rigida and Sargassum muticum, collected along the coast of the Italian peninsula during a PhD thesis (Garzoli, 2013). Sydowia polyspora was obtained both from Ulva rigida and Sargassum muticum; Aspergillus pseudoterreus was isolated only from Ulva rigida.The studied fungi were inoculated in mineral medium added with colloidal chitin as the only carbon source; chitinase production was assayed by the DNS method which estimates the concentration of reducing sugars in the sample. The antagonistic activity was investigated by dual cultures (Skidmore & Dickinson, 1976). Results showed that: 1) both S. polyspora and A. pseudoterreus produced a good amount of chitinases; the maximum enzymatic yield was detected after 4 days for S. polyspora and after 7 days for A. pseudoterreus; 2) an interesting antagonistic activity was evidenced for A. pseudoterreus, able to inhibit the growth of A. fumigatus and P. oryzae. In conclusion, positive data regarding the chitinases production have been highlighted, even if these results cannot completely explain the antagonistic activity of the two marine strains against the tested pathogenic fungi

Genetic profiling of idiopathic antenatal intracranial haemorrhage: what we know?

Intracranial hemorrhage (ICH) is reported in premature infants and rarely, in prenatal life. Fetal ICH can be accurately identified in utero and categorized by antenatal sonography and/or MRI. Infectious disease, maternal drug exposure, alloimmune thrombocytopenia, maternal trauma, coagulation disorders and twin-to-twin transfusion syndrome can cause fetal ICH. However, in many cases, the cause is not identified and a genetic disorder should be taken into consideration. We conducted a review of the literature to investigate what we know about genetic origins of fetal ICH. We conducted targeted research on the databases PubMed and EMBASE, ranging from 1980 to 2020. We found 311 studies and 290 articles were excluded because they did not meet the inclusion criteria, and finally, 21 articles were considered relevant for this review. Hemostatic, protrombotic, collagen and X-linked GATA 1 genes were reported in the literature as causes of fetal ICH. In cases of ICH classified as idiopathic, possible underlying genetic causes should be accounted for and investigated. The identification of ICH genetic causes can guide the counselling process with respect to the recurrence risk, in addition to producing relevant clinical data to the neonatologist for the optimal management and prompt treatment of the newborn

Non-Coding RNAs as Prognostic Markers for Endometrial Cancer

Endometrial cancer (EC) has been classified over the years, for prognostic and therapeutic purposes. In recent years, classification systems have been emerging not only based on EC clinical and pathological characteristics but also on its genetic and epigenetic features. Noncoding RNAs (ncRNAs) are emerging as promising markers in several cancer types, including EC, for which their prognostic value is currently under investigation and will likely integrate the present prognostic tools based on protein coding genes. This review aims to underline the importance of the genetic and epigenetic events in the EC tumorigenesis, by expounding upon the prognostic role of ncRNAs

Suprascapular neuropathy around the shoulder: a current concept review

Suprascapular neuropathy is an uncommon but increasingly recognized cause of shoulder pain and dysfunction due to nerve entrapment. The aim of this review is to summarize some important aspects of this shoulder pathology. An extensive research was performed on PubMed and Clinical Key. The goal was to collect all the anatomical, biomechanical and clinical studies to conduct an extensive overview of the issue. Attention was focused on researching the state of art of the diagnosis and treatment. A total of 59 studies were found suitable and included. This condition is more frequently diagnosed in over-head athletes or patients with massive rotator cuff tears. Diagnosis may be complex, whereas its treatment is safe, and it has a great success rate. Prompt diagnosis is crucial as chronic conditions have worse outcomes compared to acute lesions. Proper instrumental evaluation and imaging are essential. Dynamic compression must initially be treated non-operatively. If there is no improvement, surgical release should be considered. On the other hand, soft tissue lesions may first be treated non-operatively. However, surgical treatment by arthroscopic means is advisable when possible as it represents the gold standard therapy. Other concomitant shoulder lesions must be recognized and treated accordingly