Identification of a novel a-L-arabinofuranosidase gene associated with mealiness in apple.

In order to investigate the genetic bases of the physiological syndrome mealiness that causes abnormal fruit softening and juice loss in apples, an integrative approach was devised, consisting of sensory, instrumental, biochemical, genetic, and genomic methods. High levels of activity of a-L-arabinofuranosidase (a-AFase), a hydrolase acting on the pectic component of the cell walls, were found in individuals exhibiting the mealiness phenotype in a segregating population. The expression levels of the previously uncharacterized apple AF gene MdAF3 are higher in fruits from plants consistently showing mealiness symptons and high a-AFase activity. The transcription of MdAF3 is differentially regulated in distinct genomic contexts and appears to be independent of ethylene. Thus, it is likely to be controlled by endogenous developmental mechanisms associated with fruit ripening. The use of integrative approaches has allowed the identification of a novel contributor to the mealiness phenotype in apple and it has been possible to overcome the problems posed by the unavailability of near-isogenic lines to dissect the genetic bases of a complex physiological trait in woody perennial species

Effects of age and gender on neural correlates of emotion imagery

Mental imagery is part of people's own internal processing and plays an important role in everyday life, cognition and pathology. The neural network supporting mental imagery is bottom-up modulated by the imagery content. Here, we examined the complex associations of gender and age with the neural mechanisms underlying emotion imagery. We assessed the brain circuits involved in emotion mental imagery (vs. action imagery), controlled by a letter detection task on the same stimuli, chosen to ensure attention to the stimuli and to discourage imagery, in 91 men and women aged 14–65 years using fMRI. In women, compared with men, emotion imagery significantly increased activation within the right putamen, which is involved in emotional processing. Increasing age, significantly decreased mental imagery-related activation in the left insula and cingulate cortex, areas involved in awareness of ones' internal states, and it significantly decreased emotion verbs-related activation in the left putamen, which is part of the limbic system. This finding suggests a top-down mechanism by which gender and age, in interaction with bottom-up effect of type of stimulus, or directly, can modulate the brain mechanisms underlying mental imagery

Interdisciplinary rehabilitation in morbidly obese subjects: an observational pilot study.

BACKGROUND AND AIM: To assess the clinical effectiveness of a interdisciplinary rehabilitation programme (CR), in a population of morbidly obese subjects we have undertaken a observational study. METHODS: The study included fifty-nine adult subjects (18 M, 60+/-10 years, BMI 47+/-8) with sleep-disturbance related symptoms and disabilities. Assessment and correction of sleep disordered breathing (SDB) abnormalities, improvement of exercise tolerance, body weight and associated psychological features were the aims of this CR, which has been carried out over a 1 month period.Lung functions, apnea/hypopnea index (AHI), 6-minute walking distance (6MWD), body weight (BW), quality of life by means of Sat-P questionnaire and serum metabolic data has been recorded at baseline (TO), at the end (Ti) and 6 months after (T2) the CR. RESULTS: The percentage of patients with AHI > 10 declined from 65% (at TO) to 20% (at both T1 and T2). 6MWD and BW significantly improved (p < 0.005) at T1 and still maintained at T2; a significant relationship (r = 0.379, p < 0.01) has been found between changes of BW and 6MWD recorded in between TO and T2. Sat-P item scores dealing with sleep efficiency, problem solving, and social interactions improved (p < 0.01) at T1 and still maintained at T2. CONCLUSIONS: This hospital-based CR provides indication for effectiveness in advanced morbidly obese subjects and warrants further controlled trials to confirm the results

Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis.

Fragile X syndrome (FXS) and tuberous sclerosis (TSC) are genetic disorders that result in intellectual disability and an increased prevalence of autism spectrum disorders (ASD). While the clinical presentation of each disorder is distinct, the molecular causes are linked to a disruption in the mTORC1 (mammalian Target of Rapamycin Complex 1) and ERK1/2 (Extracellular signal-Regulated Kinase) signaling pathways. We assessed the clinical and molecular characteristics of an individual seen at the UC Davis MIND Institute with a diagnosis of FXS and TSC. Clinical evaluation of physical, behavioral, and cognitive impairments were performed. Additionally, total and phosphorylated proteins along the mTORC1 and ERK1/2 pathways were measured in primary fibroblast cell lines from the proband. In this case the phenotypic effects that result in a human with both FXS and TSC are shown to be severe. Changes in mTORC1 and ERK1/2 signaling proteins and global protein synthesis were not found to be noticeably different between four cohorts (typically developing, FMR1 full mutation, FMR1 full mutation and TSC1 loss of function mutation, and TSC1 loss of function mutation); however cohort sizes prevented stringent comparisons. It has previously been suggested that disruption of the mTORC1 pathway was reciprocal in TSC and FXS double knock-out mouse models so that the regulation of these pathways were more similar to wild-type mice compared to mice harboring a Fmr1(-/y) or Tsc2(-/+) mutation alone. However, in this first reported case of a human with a diagnosis of both FXS and TSC, substantial clinical impairments, as a result of these two disorders were observed. Differences in the mTORC and ERK1/2 pathways were not clearly established when compared between individuals with either disorder, or both

IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES

The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F) cases of autosomal dominant partial epilepsy with auditory features (ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed according to the following criteria: partial epilepsy with auditory symptoms, negative family history for epilepsy and absence of cerebral lesions on NMR study. All patients underwent a full clinical, neuroradiological and neurophysiological examination. Forty patients were screened for mutations in LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39 years (average 19 years). Secondarily generalized seizures were the most common type of seizures at onset (79%). Auditory auras occurred either in isolation (53%) or associated with visual, psychic or aphasic symptoms. Low seizure frequency at onset and good drug responsiveness were common, with 51% of patients seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no major differences were found between S and F patients with respect to age at onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin exons failed to disclose mutations. Our data support the existence of a peculiar form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without a positive family history. This syndrome, here named IPEAF, has a benign course in the majority of patients and could be diagnosed by the presence of auditory aura. Although LGI1 mutations have been excluded, genetic factors may play an aetiopathogenetic role in at least some of these S cases

Genome-wide analysis of the AP2/ERF superfamily in apple and transcriptional evidence of ERF involvement in scab pathogenesis.

The APETALA2 (AP2)/ETHYLENE RESPONSE FACTOR (ERF) superfamily of transcriptional regulators is involved in several growth, development and stress responses processes in higher plants. Currently, the available information on the biological roles of AP2/ERF genes is derived from Arabidopsis thaliana. In the present work, we have investigated genomic and transcriptional aspects of AP2/ERF genes in the economically important perennial species, Malus × domestica. We have identified 259 sequences containing at least one ERF domain in apple genome. The vast majority of the putative proteins display predicted nuclear localization, compatible with a biological role in transcription regulation. The AP2 and ERF families are greatly expanded in apple. Wholegenome analyses in other plant species have identified a single genomic sequence with divergent ERF, whereas in apple seven soloists are present. In the apple genome, the most noteworthy expansion occurred in subgroups V, VIII and IX of the ERF family. Expression profiling analyses have revealed the association of ripeninginvolved ERF genes to scab (Venturia inequalis) pathogenesis in the susceptible Gala cultivar, indicating that gene expansion processes were accompanied by functional divergence. The presented analyses of AP2/ERF genes in apple provide evidences of shared ethylenemediated signaling pathways in ripening and disease responses

MSR32 COVID-19 Beds’ Occupancy and Hospital Complaints: A Predictive Model

Objectives COVID-19 pandemic limited the number of patients that could be promptly and adequately taken in charge. The proposed research aims at predicting the number of patients requiring any type of hospitalizations, considering not only patients affected by COVID-19, but also other severe viral diseases, including untreated chronic and frail patients, and also oncological ones, to estimate potential hospital lawsuits and complaints. Methods An unsupervised learning approach of artificial neural network’s called Self-Organizing Maps (SOM), grounding on the prediction of the existence of specific clusters and useful to predict hospital behavioral changes, has been designed to forecast the hospital beds’ occupancy, using pre and post COVID-19 time-series, and supporting the prompt prediction of litigations and potential lawsuits, so that hospital managers and public institutions could perform an impacts’ analysis to decide whether to invest resources to increase or allocate differentially hospital beds and humans capacity. Data came from the UK National Health Service (NHS) statistic and digital portals, concerning a 4-year time horizon, related to 2 pre and 2 post COVID-19 years. Results Clusters revealed two principal behaviors in selecting the resources allocation. In case of increase of non-COVID hospitalized patients, a reduction in the number of complaints (-55%) emerged. A higher number of complaints was registered (+17%) against a considerable reduction in the number of beds occupied (-26%). Based on the above, the management of hospital beds is a crucial factor which can influence the complaints trend. Conclusions The model could significantly support in the management of hospital capacity, helping decision-makers in taking rational decisions under conditions of uncertainty. In addition, this model is highly replicable also in the estimation of current hospital beds, healthcare professionals, equipment, and other resources, extremely scarce during emergency or pandemic crises, being able to be adapted for different local and national settings

On quantifying uncertainties for the linearized BGK kinetic equation

We consider the linearized BGK equation and want to quantify uncertainties in the case of modelling errors. More specifically, we want to quantify the error produced if the pre-determined equilibrium function is chosen inaccurately. In this paper we consider perturbations in the velocity and in the temperature of the equilibrium function and consider how much the error is amplified in the solution