35 research outputs found

    Intensity pseudo-localized phase in the glassy random laser

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    Evidence of an emergent pseudo-localized phase characterizing the low-temperature replica symmetry breaking phase of the complex disordered models for glassy light is provided in the mode-locked random laser model. A pseudo-localized phase corresponds to a state in which the intensity of light modes is neither equipartited among all modes nor really localized on few of them. Such a hybrid phase has been recently characterized in other models, such as the Discrete Non-Linear Schr\"odinger equation, just as a finite size effect, while in the low temperature phase of the glassy random laser it seems to be robust in the limit of large size.Comment: 11 pages, 6 figure

    Universality class of the mode-locked glassy random laser

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    By means of enhanced Monte Carlo numerical simulations parallelized on GPU's we study the critical properties of the spin-glass-like model for the mode-locked glassy random laser, a 44-spin model with complex spins with a global spherical constraint and quenched random interactions. Using two different boundary conditions for the mode frequencies we identify the critical points and the critical indices of the random lasing phase transition using , with finite size scaling techniques. The outcome of the scaling analysis is that the mode-locked random laser is in a mean-field universality class, though different from the mean-field class of the Random Energy Model and the glassy random laser in the narrow band approximation, that is, the fully connected version of the present model. The low temperature (high pumping) phase is finally characterized by means of the overlap distribution and evidence for the onset of replica symmetry breaking in the lasing regime is provided.Comment: 15 pages, 11 figure

    Living with phenylketonuria in adulthood: the PKU ATTITUDE study

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    Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey to characterize the dietary habits of Italian adult PKU patients and to identify psychological factors influencing disease perception and adherence to diet. Participants to the survey (n = 111; response rate 94%) were asked to complete a structured questionnaire. Patients appeared to have an altered perception and awareness of the disease. About 40% of them did not consider PKU a disease and, despite declaring regular monitoring of phenylalanine levels (85%), nearly half of them reported a high plasma value over the last 6 months (>600 μmol/L, 48%) or were unable to specify it (31%). Adherence to PKU diet was unsatisfactory, with increased consumption of natural protein sources and reduced daily use of amino-acid supplements (<4–5 times/day in 82% patients). In addition to the intrinsic characteristics of AA formula (palatability, ease of use), the most important factor influencing their consumption was the increased social pressure associated with their use (55%). Plasma phenylalanine periodical measurements (61%) and examinations at metabolic centers (49%) were considered relevant for compliance to diet. In Italian adult PKU patients dietary management was found to be inadequate, likely due to inappropriate perception and knowledge of the disease, and lack of awareness of the negative impact of poor metabolic control in adult life. Clinicians should consider implementing more intense and tailored educational measures, as well as structured transitional care processes

    Pharmacokinetic drug-drug interaction and their implication in clinical management

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    Drug-drug interactions (DDIs) are one of the commonest causes of medication error in developed countries, particularly in the elderly due to poly-therapy, with a prevalence of 20-40%. In particular, poly-therapy increases the complexity of therapeutic management and thereby the risk of clinically important DDIs, which can both induce the development of adverse drug reactions or reduce the clinical efficacy. DDIs can be classify into two main groups: pharmacokinetic and pharmacodynamic. In this review, using Medline, PubMed, Embase, Cochrane library and Reference lists we searched articles published until June 30 2012, and we described the mechanism of pharmacokinetic DDIs focusing the interest on their clinical implications

    Disciplinary problems among high achiever students: the types and the causes

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    This qualitative study has been done to 24 teachers and 72 students from various secondary schools in Penang, Malaysia, in order to investigate the effect of between class ability grouping (BCAG) on high achiever secondary school students. Studies reported that BCAG triggered correspondence bias among teachers, which eventually affect them to show different perception and expectations towards high achiever classes (HAC) and low achiever classes (LAC) students. Symbolic interaction theories explained that individuals tend to be affected by others’ expectation, and therefore behave in a way they were expected to. Therefore, according to the previous studies on BCAG, it was assumed that HAC students would achieve better and would not be significantly involved in disciplinary problems. After semi-structured interview had been conducted in order to collect the data, and two-cycled analyses method, namely In-Vivo and Thematic Analyses had been operated in order to analyze the massive amount of qualitative data, the it was discovered that HAC students were involved with disciplinary problems, such as being disrespectful to teachers, paying less attention in the classroom, neglecting assignments and doing external work during classes. Other findings of this study showed that the disciplinary problems among HAC are related to their self-esteem types due to locus of control difference, as well as bigger issues apart from the competition among themselves. School management system, BCAG itself, reciprocal envy between HAC and LAC students, as well as their inclination towards tuition centers contributed to disciplinary problems among HAC students

    Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies

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    BackgroundGNAO1-related disorders (GNAO1-RD) encompass a diverse spectrum of neurodevelopmental and movement disorders arising from variants in the GNAO1 gene. Dyskinetic crises, marked by sudden and intense exacerbations of abnormal involuntary movements, present a significant challenge in GNAO1-RD.ObjectivesThis study aimed to establish a standardized framework for understanding dyskinetic crises, addressing crucial aspects such as definition, triggers, diagnostic criteria, complications, and management strategies.MethodsA Delphi consensus process was conducted involving international experts in GNAO1-RD. The panel of thirteen experts participated in three voting rounds, discussing 90 statements generated through a literature review and clinical expertise.ResultsConsensus was achieved on 31 statements, defining dyskinetic crises as abrupt, paroxysmal episodes involving distinct abnormal movements in multiple body regions, triggered by emotional stress or infections. Dyskinetic crises may lead to functional impairment and complications, emphasizing the need for prompt recognition. While individualized pharmacological recommendations were not provided, benzodiazepines and clonidine were suggested for acute crisis management. Chronic treatment options included tetrabenazine, benzodiazepines, gabapentin, and clonidine. Deep brain stimulation should be considered early in the treatment of refractory or prolonged dyskinetic crisis.ConclusionThis consensus provides a foundation for understanding and managing dyskinetic crises in GNAO1-RD for clinicians, caregivers, and researchers. The study emphasizes the importance of targeted parental and caregiver education, which enables early recognition and intervention, thereby potentially minimizing both short- and long-term complications. Future research should concentrate on differentiating dyskinetic crises from other neurological events and investigating potential risk factors that influence their occurrence and nature. The proposed standardized framework improves clinical management, stakeholder communication, and future GNAO1-RD research

    MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement

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    The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/ aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the “molar tooth sign”, a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs
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