Search results for "global development"
showing 10 items of 13 documents
DLG4-related synaptopathy: a new rare brain disorder
2021
Contains fulltext : 245031.pdf (Publisher’s version ) (Closed access) PURPOSE: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants. METHODS: The clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing. RESULTS: The clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit-hyp…
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects
2020
International audience; KDM4B is a lysine-specific demethylase with a preferential activity on H3K9 tri/di-methylation (H3K9me3/2)-modified histones. H3K9 tri/di-demethylation is an important epigenetic mechanism responsible for silencing of gene expression in animal development and cancer. However, the role of KDM4B on human development is still poorly characterized. Through international data sharing, we gathered a cohort of nine individuals with mono-allelic de novo or inherited variants in KDM4B. All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had a…
Phenotype associated with TAF2 biallelic mutations: a clinical description of four individuals and review of the literature
2021
International audience; Transcription factor IID is a multimeric protein complex that is essential for the initiation of transcription by RNA polymerase II. One of its critical components, the TATA-binding protein-associated factor 2, is encoded by the gene TAF2. Pathogenic variants of this gene have been shown to be responsible for the Mental retardation, autosomal recessive 40 syndrome. This syndrome is characterized by severe intellectual disability, postnatal microcephaly, pyramidal signs and thin corpus callosum. Until now, only three families have been reported separately. Here we report four individuals, from two unrelated families, who present with severe intellectual disability and…
La contribución de las refugiadas colombianas a la Agenda Global de Desarrollo a través de su empoderamiento en la acción colectiva para la defensa d…
2020
El propósito del presente estudio es ahondar sobre los aportes y los significados del activismo social y político en defensa de los derechos humanos que llevan a cabo las refugiadas colombianas asentadas en España y su estrecha vinculación con relevantes dos procesos que experimentan: de empoderamiento y generación de nuevas identidades. Considerando, además, que el drama del exilio es un elemento que atraviesa y fragmenta sus trayectorias vitales incrementando sustancialmente su vulnerabilidad, las refugiadas colombianas en España son un ejemplo de resiliencia que se fundamenta en la conformación de redes de activismo en defensa de los derechos humanos de las mujeres exiliadas. Para ello s…
Toward a holistic understanding of pastoralism
2021
Pastoralism is globally significant in social, environmental, and economic terms. However, it experiences crises rooted in misconceptions and poor interdisciplinary understanding, while being largely overlooked in international sustainability forums and agendas. Here, we propose a transdisciplinary research approach to understand pastoralist transitions using (1) social, economic, and environmental dimensions, (2) diverse geographic contexts and scales to capture emerging properties, allowing for cross-system comparisons, and (3) timescales from the distant past to the present. We provide specific guidelines to develop indicators for this approach, within a social-ecological resilience anal…
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebel…
2018
International audience; Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgene…
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient
2020
Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pentatricopeptide repeat-containing (LRPPRC). It is an autosomal recessive neurogenetic OXPHOS disorder, phenotypically distinct from other types of Leigh syndrome, with a carrier frequency up to 1:23 and an incidence of 1:2063 in the Saguenay-Lac-St Jean region of Quebec. Recently, LSFC has also been reported outside the French-Canadian population. Patient presentation We report a male Italian (Sic…
Latvia. Human Development Report 2004/2005: Human Capability in the Regions
2005
The purpose of the publication is to look at human development as the expansion of opportunities for human activities and capability. So far, the Human Development Reports of Latvia have analysed important components of this process (human security, partnership among the individual, the state and the private sector, and social cohesion) and have researched social processes (globalisation, social integration during a transition period, etc.) that significantly affect human development. This Report assesses the progress of human development in the regions.
Inhibition, set-shifting and working memory in Global Developmental Delay preschool children
2018
Executive functions (EFs) allow to planning and voluntarily and autonomously produce targeted behaviors, in unusual or complex conditions in which the automated response schemes are not appropriate or sufficient to achieve behavior goal. The aim of this study was to evaluate EFs in preschool children presenting with Global Developmental Delay (GDD). Fifty-two preschool children participated in this study: 20 GDD children and 32 typical developing children (TDC) as control group, enrolled in the schools of Campania and Sicily Regions. All subjects underwent evaluation of the executive functioning through the administration of the Battery for the Assessment of Preschool Executive Functions (B…
Unrooting inequality from development : recognition and justification of inequality in global development
2017
How does the tension resolve between a moral order with egalitarian imperatives, such as sustainable and inclusive human development, and a global political economy based on a market system that prioritizes meeting the wants and needs of those with purchasing power? By developing a comprehensive theoretical framework as analytical contribution, I propose to rethink a practice-intensive field (Development and International Cooperation) and analyze the texts that represent the dominant discourse in development policies: the UNDP Human Development Reports and the World Bank’s World Development Reports. These influential institutions have shaped the rise of neoliberalism as a hegemonic developm…