Brother and sister: the family system cope with congenital hand malformation

Taking care of children with congenital hand malformation and their family is of the utmost importance for our surgical team, first of all to take care of the complex needs of our patients, and also to ensure compliance with therapeutic protocol process. At the Hand Surgery Unit led by Prof. Giorgio Pajardi we work like a multidisciplinary team, taking care of our patients not focusing only on their malformation. This way of working includes involving in the process the whole family system. Comparing family groups with different compositions, we found an increasing frequency in psychological consultation requests from parents who have to cope with the hand congenital malformation of their child in relationship of this child whit his/her brothers or sisters. We conducted a qualitative study through the analysis of psychological interviews carried out in our department with 55 family groups. In 26 cases the child affected by congenital malformation was the eldest son, while in the remaining 29 cases the child was the second or third child. How to deal the problem of congenital hand malformation of one child with his/her siblings is the main issue of parents when the child concerned by malformation is the second or third child, while the request of psychological consultation was made only by two families whose child with hand congenital malformation was the first child. In this case, parents can develop a strategy on how to cope with the malformation through the confrontation with the family and social system, and this makes it easier for them to face the problem of the relationship between the child with malformation and younger brothers or sisters. Siblings are inevitably involved in the situation of our young patients. It is at the same time important to be aware of the psychological resources proper of these children and to avoid their excessive involvement or, on the other side, feelings of exclusion. The presence of a psychologist as part of the team helps the family to cope with malformation, not only by supporting compliance through the whole treatment process, as we have already pointed out in other studies, but also by facilitating effective strategies to cope with this malformation in important relationship and in the social context

The replicative lifespan-extending deletion of SGF73 results in altered ribosomal gene expression in yeast.

Sgf73, a core component of SAGA, is the yeast orthologue of ataxin-7, which undergoes CAG-polyglutamine repeat expansion leading to the human neurodegenerative disease spinocerebellar ataxia type 7 (SCA7). Deletion of SGF73 dramatically extends replicative lifespan (RLS) in yeast. To further define the basis for Sgf73-mediated RLS extension, we performed ChIP-Seq, identified 388 unique genomic regions occupied by Sgf73, and noted enrichment in promoters of ribosomal protein (RP)-encoding genes. Of 388 Sgf73 binding sites, 33 correspond to 5' regions of genes implicated in RLS extension, including 20 genes encoding RPs. Furthermore, half of Sgf73-occupied, RLS-linked RP genes displayed significantly reduced expression in sgf73Δ mutants, and double null strains lacking SGF73 and a Sgf73-regulated, RLS-linked RP gene exhibited no further increase in replicative lifespan. We also found that sgf73Δ mutants display altered acetylation of Ifh1, an important regulator of RP gene transcription. These findings implicate altered ribosomal protein expression in sgf73Δ yeast RLS and highlight altered acetylation as a pathway of relevance for SCA7 neurodegeneration

Curcumin Protects -SH Groups and Sulphate Transport after Oxidative Damage in Human Erythrocytes

Background/Aims: Erythrocytes, continuously exposed to oxygen pressure and toxic compounds, are sensitive to oxidative stress, namely acting on integral Band 3 protein, with consequences on cell membranes deformability and anion transport efficiency. The aim of the present investigation, conducted on human erythrocytes, is to verify whether curcumin (1 or 10µM), a natural compound with proved antioxidant properties, may counteract Band 3-mediated anion transport alterations due to oxidative stress. Methods: Oxidative conditions were induced by exposure to, alternatively, either 2 mM N-ethylmaleimide (NEM) or pH-modified solutions (6.5 and 8.5). Rate constant for SO4= uptake and -SH groups estimation were measured to verify the effect of oxidative stress on anion transport efficiency and erythrocyte membranes. Results: After the exposure of erythrocytes to, alternatively, NEM or pH-modified solutions, a significant decrease in both rate constant for SO4= uptake and -SH groups was observed, which was prevented by curcumin, with a dose-dependent effect. Conclusions: Our results show that: i) the decreased efficiency of anion transport may be due to changes in Band 3 protein structure caused by cysteine -SH groups oxidation, especially after exposure to NEM and pH 6.5; ii) 10 µM Curcumin is effective in protecting erythrocytes from oxidative stress events at level of cell membrane transport

Autophagy activation and enhanced mitophagy characterize the Purkinje cells of pcd mice prior to neuronal death

Purkinje cells are a class of specialized neurons in the cerebellum, and are among the most metabolically active of all neurons, as they receive immense synaptic stimulation, and provide the only efferent output from the cerebellum. Degeneration of Purkinje cells is a common feature of inherited ataxias in humans and mice. To understand Purkinje neuron degeneration, investigators have turned to naturally occurring Purkinje cell degeneration phenotypes in mice to identify key regulatory proteins and cellular pathways. The Purkinje cell degeneration (pcd) mouse is a recessive mutant characterized by complete and dramatic post-natal, cell autonomous Purkinje neuron degeneration and death. As the basis of Purkinje cell death in pcd is unresolved, and contradictory data has emerged for the role of autophagy in Purkinje cell degeneration, we studied the mechanism of Purkinje cell death in pcd mice. BAX null status did not suppress Purkinje neuron death in pcd mice, indicating that classic apoptosis is not responsible for Purkinje cell loss. Interestingly, LC3 Western blot analysis and GFP-LC3 immunostaining of degenerating pcd cerebellum revealed activation of the autophagy pathway. Ultrastructural studies confirmed increased autophagy pathway activity in Purkinje cells, and yielded evidence for mitophagy, in agreement with LC3 immunoblotting of cerebellar fractions. As p62 levels were decreased in pcd cerebellum, our findings suggest that pcd Purkinje cell neurons can execute effective autophagy. However, our results support a role for dysregulated autophagy activation in pcd, and suggest that increased or aberrant mitophagy contributes to the Purkinje cell degeneration in pcd mice

Altered sleep homeostasis in rev-erbα knockout mice

Study Objectives: The nuclear receptor REV-ERBα is a potent, constitutive transcriptional repressor critical for the regulation of key circadian and metabolic genes. Recently, REV-ERBα's involvement in learning, neurogenesis, mood, and dopamine turnover was demonstrated suggesting a specific role in central nervous system functioning. We have previously shown that the brain expression of several core clock genes, including Rev-erbα, is modulated by sleep loss. We here test the consequences of a loss of REV-ERBα on the homeostatic regulation of sleep.Methods: EEG/EMG signals were recorded in Rev-erbα knockout (KO) mice and their wild type (WT) littermates during baseline, sleep deprivation, and recovery. Cortical gene expression measurements after sleep deprivation were contrasted to baseline.Results: Although baseline sleep/wake duration was remarkably similar, KO mice showed an advance of the sleep/wake distribution relative to the light-dark cycle. After sleep onset in baseline and after sleep deprivation, both EEG delta power (1–4 Hz) and sleep consolidation were reduced in KO mice indicating a slower increase of homeostatic sleep need during wakefulness. This slower increase might relate to the smaller increase in theta and gamma power observed in the waking EEG prior to sleep onset under both conditions. Indeed, the increased theta activity during wakefulness predicted delta power in subsequent NREM sleep. Lack of Rev-erbα increased Bmal1, Npas2, Clock, and Fabp7 expression, confirming the direct regulation of these genes by REV-ERBα also in the brain.Conclusions: Our results add further proof to the notion that clock genes are involved in sleep homeostasis. Because accumulating evidence directly links REV-ERBα to dopamine signaling the altered homeostatic regulation of sleep reported here are discussed in that context

High prevalence of anti-hepatitis e virus antibodies among blood donors in central Italy, february to march 2014

Prevalence of anti-hepatitis E virus (HEV) antibodies is highly variable in developed countries, which seems partly due to differences in assay sensitivity. Using validated sensitive assays, we tested 313 blood donors attending a hospital transfusion unit in central Italy in January and February 2014 for anti-HEV IgG and IgM and HEV RNA. Data on HEV exposure were collected from all donors. Overall anti-HEV IgG prevalence was 49% (153/313). Eating raw dried pig-liver sausage was the only independent predictor of HEV infection (adjusted prevalence rate ratio = 2.14; 95% confidence interval: 1.23–3.74). Three donors were positive for either anti-HEV IgM (n = 2; 0.6%) or HEV RNA (n = 2; 0.6%); they were completely asymptomatic, without alanine aminotransferase (ALT) abnormalities. Of the two HEV RNA-positive donors (both harbouring genotype 3), one was anti-HEV IgG- and IgM-positive, the other was anti-HEV IgG- and IgM-negative. The third donor was positive for anti-HEV IgG and IgM but HEV RNA-negative. HEV infection is therefore hyperendemic among blood donors (80% men 18–64 years-old) from central Italy and associated with local dietary habits. Nearly 1% of donors have acute or recent infection, implying potential transmission to blood recipients. Neither ALT nor anti-HEV IgM testing seems useful to prevent transfusion-transmitted HEV infection. © 2016, European Centre for Disease Prevention and Control

Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA.

Macroautophagy (hereafter autophagy) is a key pathway in neurodegeneration. Despite protective actions, autophagy may contribute to neuron demise when dysregulated. Here we consider X-linked spinal and bulbar muscular atrophy (SBMA), a repeat disorder caused by polyglutamine-expanded androgen receptor (polyQ-AR). We found that polyQ-AR reduced long-term protein turnover and impaired autophagic flux in motor neuron-like cells. Ultrastructural analysis of SBMA mice revealed a block in autophagy pathway progression. We examined the transcriptional regulation of autophagy and observed a functionally significant physical interaction between transcription factor EB (TFEB) and AR. Normal AR promoted, but polyQ-AR interfered with, TFEB transactivation. To evaluate physiological relevance, we reprogrammed patient fibroblasts to induced pluripotent stem cells and then to neuronal precursor cells (NPCs). We compared multiple SBMA NPC lines and documented the metabolic and autophagic flux defects that could be rescued by TFEB. Our results indicate that polyQ-AR diminishes TFEB function to impair autophagy and promote SBMA pathogenesis

DNA Metabarcoding and Isolation by Baiting Complement Each Other in Revealing Phytophthora Diversity in Anthropized and Natural Ecosystems

Isolation techniques supplemented by sequencing of DNA from axenic cultures have provided a robust methodology for the study of Phytophthora communities in agricultural and natural ecosystems. Recently, metabarcoding approaches have emerged as new paradigms for the detection of Phytophthora species in environmental samples. In this study, Illumina DNA metabarcoding and a conventional leaf baiting isolation technique were compared to unravel the variability of Phytophthora communities in different environments. Overall, 39 rhizosphere soil samples from a natural, a semi-natural and a horticultural small-scale ecosystem, respectively, were processed by both baiting and metabarcoding. Using both detection techniques, 28 out of 39 samples tested positive for Phytophthora. Overall, 1,406,613 Phytophthora internal transcribed spacer 1 (ITS1) sequences and 155 Phytophthora isolates were obtained, which grouped into 21 taxa, five retrieved exclusively by baiting (P. bilorbang; P. cryptogea; P. gonapodyides; P. parvispora and P. pseudocryptogea), 12 exclusively by metabarcoding (P. asparagi; P. occultans; P. psycrophila; P. syringae; P. aleatoria/P. cactorum; P. castanetorum/P. quercina; P. iranica-like; P. unknown sp. 1; P. unknown sp. 2; P. unknown sp. 3; P. unknown sp. 4; P. unknown sp. 5) and four with both techniques (P. citrophthora, P. multivora, P. nicotianae and P. plurivora). Both techniques complemented each other in describing the variability of Phytophthora communities from natural and managed ecosystems and revealing the presence of rare or undescribed Phytophthora taxa

A new approach in the monitoring of the phytosanitary conditions of forests: the case of oak and beech stands in the Sicilian Regional Parks

L'obiettivo del presente studio è stato quello di esaminare lo stato fitosanitario delle quercete e faggete dei tre Parchi Regionali Siciliani (Parco dell'Etna, Parco delle Madonie, Parco dei Nebrodi). Lo studio è stato condotto individuando delle aree di saggio, popolamenti forestali omogenei sotto l'aspetto floristico, ecologico e fitosanitario. Complessivamente sono state delimitate 81 aree di saggio, di cui 54 quercete e 27 faggete. La condizione fitosanitaria di ogni essenza arborea all'interno della rispettiva area di saggio è stata espressa con un indice numerico denominato “classe fitosanitaria” (PC). I popolamenti di quercia hanno mostrato un elevato grado di sofferenza, con alberi sintomatici nell’85% delle aree di saggio. I popolamenti di faggio hanno mostrato una situazione di maggiore stabilità, ad eccezione delle faggete del parco dei Nebrodi che apparivano molto degradate. Sul genere Quercus, sono stati osservati sintomi di infezioni di patogeni fungini comuni nelle foreste delle aree temperate e Mediterranee, quali Biscogniauxia mediterranea, Polyporus sp., Fistulina hepatica, Mycrosphaera alphitoides ed Armillaria sp., mentre su faggio sono state osservate infezioni di Biscogniauxia nummularia, Fomes fomentarius e Neonectria radicicola. Sono state altresì individuate 22 aree che vengono proposte come aree di saggio permanenti dello stato fitosanitario delle foreste nei tre parchi.The objective of this study was to investigate the health conditions of oak and beech stands in the three Regional Parks of Sicily (Etna, Madonie and Nebrodi). A total of 81 sampling areas were investigated, 54 in oak stands and 27 in beech stands. The phytosanitary conditions of each tree within the respective sampling area was expressed with a synthetic index namely phytosanitary class (PC). Oak stands showed severe symptoms of decline, with 85% of the sampling areas including symptomatic trees. In general, beech stands were in better condition, with the exception of Nebrodi Park, where trees showed severe symptoms of decline. On oak trees, infections of fungal pathogens were also observed, including Biscogniauxia mediterranea, Polyporus sp., Fistulina hepatica, Mycrosphaera alphitoides and Armillaria sp. By contrast, on beech trees Biscogniauxia nummularia, Fomes fomentarius and Neonectria radicicola were recognized. Furthermore, twenty-two permanent sampling areas were delimited with the aim of monitoring regularly the health conditions of forests in these three parks