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1.
Empir Econ ; : 1-28, 2023 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-37361955

RESUMO

The COVID-19 pandemic proved to be an unprecedented socio-economic crisis in the last decades. More than three years after its outbreak, there is still uncertainty regarding its future evolution. National and international authorities adopted a prompt and synchronized response to limit the adverse effects of the health crisis, in terms of socio-economic damage. Against this background, this paper assesses the efficiency of the measures implemented by fiscal authorities in selected Central and Eastern European countries to ameliorate the economic repercussions of the crisis. The analysis reveals that the impact of expenditure-side measures is stronger than that of revenue-side ones. Additionally, the results of a time-varying parameter model indicate that the fiscal multipliers are higher in times of crisis. In view of the ongoing war in Ukraine, the related geopolitical turmoil and energy crisis, the findings of this paper are especially pertinent, given the need for additional fiscal support.

2.
Exp Ther Med ; 23(1): 101, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34976143

RESUMO

Brain heterotopia is a group of rare malformations with a heterogeneous phenotype, ranging from asymptomatic to a severe clinical picture (drug-resistant epilepsy, severe developmental delay). The etiology is multifactorial, including both genetic and environmental factors. In the present study, a cohort of 15 pediatric patients with brain heterotopia were investigated by clinical examination, electroencephalographic studies, brain imaging, and genomic tests. Most of the patients had epileptic seizures, often difficult to control with one antiepileptic drug; another frequent characteristic in the cohort was developmental delay or intellectual disability, in some cases associated with behavioral problems. The genomic studies revealed an interstitial 22q11.2 microduplication, an anomaly not reported previously in heterotopia patients. Comparing the cohort of the present study with that of a previous series of heterotopia patients, both adult and pediatric, similar aspects, such as the high frequency of drug-resistant epilepsy were observed as well as some differences, such as no systemic malformations and no cases with fatal evolution. The current findings add new data to existing knowledge on a rare heterogeneous disorder. The detailed clinical description, including the epilepsy phenotypes, and genomic profiles bring new insights into a group of disorders, yet to be fully understood.

3.
Epilepsia ; 56(4): 569-76, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25789914

RESUMO

OBJECTIVE: Rett syndrome is an X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, and characterized by cognitive and communicative regression, loss of hand use, and midline hand stereotypies. Epilepsy is a core symptom, but literature is controversial regarding genotype-phenotype correlation. Analysis of data from a large cohort should overcome this shortcoming. METHODS: Data from the Rett Syndrome Networked Database on 1,248 female patients were included. Data on phenotypic and genotypic parameters, age of onset, severity of epilepsy, and type of seizures were collected. Statistical analysis was done using the IBM SPSS Version 21 software, logistic regression, and Kaplan-Meier survival curves. RESULTS: Epilepsy was present in 68.1% of the patients, with uncontrolled seizures in 32.6% of the patients with epilepsy. Mean age of onset of epilepsy was 4.68 ± (standard deviation) 3.5 years. Younger age of onset was correlated to severity of epilepsy (Spearman correlation r = 0.668, p < 0.01). Patients with late truncating deletions had lower prevalence of epilepsy. Compared to them, the p.R133C mutation, associated with a milder Rett phenotype, increased the risk for epilepsy (odds ratio [OR] 2.46, confidence interval [CI] 95% 1.3-4.66), but not for severe epilepsy. The p.R255X mutation conferred an increased risk for epilepsy (OR 2.07, CI 95% 1.2-3.59) as well as for severe epilepsy (OR 3.4, CI 95% 1.6-7.3). The p.T158M and p.C306C mutations relatively increased the risk for severe epilepsy (OR 3.09 and 2.69, CI 95% 1.48-6.4 and 1.19-6.05, respectively), but not for epilepsy occurrence. SIGNIFICANCE: Various mutations in the MECP2 gene have a different influence on epilepsy, unrelated to the severity of the general Rett phenotype. This might suggest a site-specific effect of MeCp2 on epileptic pathways. Further investigation of these mechanisms should promote better understanding of epileptogenesis in Rett syndrome.


Assuntos
Bases de Dados Factuais , Epilepsia/diagnóstico , Epilepsia/genética , Proteína 2 de Ligação a Metil-CpG/genética , Síndrome de Rett/diagnóstico , Síndrome de Rett/genética , Adolescente , Criança , Pré-Escolar , Feminino , Estudos de Associação Genética/métodos , Humanos , Lactente , Masculino , Adulto Jovem
4.
Eur J Paediatr Neurol ; 18(3): 249-56, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24149100

RESUMO

A neuroimaging-based pattern-recognition approach has been shown to be very helpful in the diagnosis of a wide range of pediatric central nervous system diseases. Few disorders may selectively affect the subthalamic nucleus in children including Leigh syndrome, succinic semialdehyde dehydrogenase deficiency, kernicterus, chronic end-stage liver failure and near total hypoxic-ischemic injury in the full-term neonates. The consideration of the constellation of clinical history and findings as well as additional neuroimaging findings should allow planning the appropriate diagnostic tests to make the correct diagnosis in children with involvement of the subthalamic nucleus.


Assuntos
Doenças do Sistema Nervoso Central/patologia , Imageamento por Ressonância Magnética , Neuroimagem , Núcleo Subtalâmico/patologia , Doenças do Sistema Nervoso Central/diagnóstico , Criança , Humanos , Imageamento por Ressonância Magnética/métodos , Neuroimagem/métodos
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