Search results for "disability"
showing 10 items of 989 documents
Pursuing the Recovery of Severe Chronic Musculoskeletal Pain in Italy: Clinical and Organizational Perspectives from a SIAARTI Survey
2021
Alessandro Vittori,1 Emiliano Petrucci,2 Marco Cascella,3 Massimo Innamorato,4 Arturo Cuomo,3 Antonino Giarratano,5 Flavia Petrini,6 Franco Marinangeli7 1Department of Anesthesia and Critical Care, ARCO ROMA, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; 2Department of Anesthesia and Intensive Care Unit, San Salvatore Academic Hospital of LâAquila, LâAquila, Italy; 3Department of Anesthesia and Critical Care, Istituto Nazionale Tumori - IRCCS, Fondazione Pascale, Naples, Italy; 4Department of Neuroscience, Pain Unit, Santa Maria delle Croci Hospital, AUSL Romagna, Ravenna, Italy; 5Department of Surgical, Oncological and Oral Science (Di.Chir.On.S.), Section of Anaesthesia, Anal…
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH
2012
Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than two chromosomes with at least three breakpoints. CCRs can be divided into familial and de novo. Balanced CCR are extremely rare in humans and are at high risk of producing unbalanced gametes. Individuals with balanced CCR are usually phenotipically normal but report fertility problems, recurrent miscarriages or congenital anomalies in newborn offsprings as consequence of either meiotic failure or imbalanced chromosomes segregation.We describe the case of an unbalanced CCR involving chromosomes 1, 4 and 8 found in a girl with developmental delay, hexadactilia and microcephaly. The rearrangement, apparent…
Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis
2020
AbstractThis study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoimmune juvenile thyroiditis. The main clinical features presented by the twins consisted of primary microcephaly with occipitofrontal circumference measuring −2 or −3 standard deviation, facial dysmorphism, typical nonsyndromic microcephaly, and mild intellectual disability. Molecular analysis of the major genes involved in primary microcephaly was performed and the following result was found in the twins: MCPH1; chr8.6357416; c.2180 C > T (rs 1…
Access to Mainstream Microfinance Services for Persons with Disabilities – Lessons Learned from Uganda
2009
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Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment
2020
The 15q13.3 microdeletion (microdel15q13.3) syndrome (OMIM 612001) has been reported in healthy subjects as well as in individuals with a wide spectrum of clinical manifestations ranging from mild to severe neurological disorders, including developmental delay/intellectual disability, autism spectrum disorder, schizophrenia, epilepsy, behavioral problems and speech dysfunction. This study explored the link between this genomic rearrangement and nocturnal frontal lobe epilepsy (NFLE), which could improve the clinical interpretation. A clinical and genomic investigation was carried out on an 8-year-girl with a de novo deletion flanking the breakpoints (BPs) 4 and 5 of 15q13.3 detected by arra…
Legge 5 febbraio 1992, n. 104. Punto di situazione degli enti della difesa. Limiti nell'applicazione e nei controlli
2020
The care of people with disability represents a primary objective related to the duties of assistance that the Constitution provides as tasks of the Republic and stated also by rules of international and European nature. Among the measures the system predisposes for the protection of disability, those tools are placed directed to let the civilian invalids’ families with a serious handicap to take care of them in case of need. Among these measures are particularly relevant the ones related to the approval for the family of disabled persons to rest from work aimed to protect the mental and physical health but also to the social integration of these subjects. The specificity of the military em…
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021
International audience; The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal pathfinding during brain developmental processes. Among this family, CRMP5/DPYSL5 plays a significant role in neuronal migration, axonal guidance, dendrite outgrowth, and synapse formation by interacting with microtubules. Here, we report the identification of missense mutations in DPYSL5 in nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intel…
Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis.
2006
Variation in major histocompatibility complex genes on chromosome 6p21.3, specifically the human leukocyte antigen HLA-DR2 or DRB1*1501-DQB1*0602 extended haplotype, confers risk for multiple sclerosis (MS). Previous studies of DRB1 variation and both MS susceptibility and phenotypic expression have lacked statistical power to detect modest genotypic influences, and have demonstrated conflicting results. Results derived from analyses of 1339 MS families indicate DRB1 variation influences MS susceptibility in a complex manner. DRB1*15 was strongly associated in families (P=7.8x10(-31)), and a dominant DRB1*15 dose effect was confirmed (OR=7.5, 95% CI=4.4-13.0, P<0.0001). A modest dose effect…
Visualization and User Interface Questions about Disability
1999
The visually impaired and the intellectually disabled are not equal groups but both groups benefit partly from the same features. Communication, symbols, pictures, customizing and alternative languages are the key elements in visualization and in user interface design to the both groups.
Multisite musculoskeletal pain trajectories from midlife to old age : a 28-year follow-up of municipal employees
2018
ObjectivesWe studied the developmental trajectories of multisite musculoskeletal pain (MSP) to learn whether pain in midlife persists to old age, and whether pain trajectories associate with midlife work or lifestyle exposures or retirement from work.MethodsMunicipal employees aged 44–58 years were studied in 1981 (n=6257) with follow-ups in 1985, 1992, 1997 and 2009. Pain in the neck, low back, and upper and lower limbs was assessed in each survey. Trajectories of the number (0–4) of pain sites were defined using growth mixture modelling (n=3093). Workload, lifestyle and morbidity were elicited by questionnaire and retirement from registries. Associations of baseline factors with pain traj…