Search results for "disorders"
showing 10 items of 4560 documents
Unusual Presentation of Bilateral Carotid Artery Dissection: The Importance of Reasoning Outside the Box
2021
A bilateral internal carotid artery dissection presenting with atypical symptoms of cerebral hypoperfusion has been rarely reported, especially in the absence of obvious precipitating factors. A middle-aged woman presented to the emergency department with a 2-day-history of progressive left arm numbness and weakness, confusion, disorientation and clumsiness worsened by upright position. A cerebral hypoperfusion condition was hypothesized and confirmed by a CT angiography, which showed bilateral internal carotid dissection with uncertain etiology. Screening for predisposing conditions to spontaneous carotid arteries dissection was basically negative. Regarding potential precipitating factors…
Somatic Symptoms among Children and Adolescents in Poland: A Confirmatory Factor Analytic Study of the Children Somatization Inventory.
2013
The aim of the present study was to examine the factor structure and psychometric properties of the short version of the Children’s Somatization Inventory (CSI-24) in Poland. The CSI-24 is a self-report questionnaire designed to assess somatic symptoms in children and adolescents. A total of 733 children and adolescents, aged 12 to 17 years, participated in this research. The participants for this study were recruited from urban and suburban schools of Opole province in South Western Poland. In addition to the CSI-24, all participants completed the Spence Children’s Anxiety Scale (SCAS) and the Strength and Difficulties Questionnaire (SDQ). The bifactor model that included the three domain-…
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
2022
Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features can be inconclusive in mild and unusual WDSTS presentations with variable ID (mild to severe), facies (typical or not) and other associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Interpretation and classification of rare KMT2A variants can be challenging. A genome-wide DNA methylation episignature for KMT2A-related syndrome could allow functional classification of variants and provide insights into the pathoph…
Explicit Oral Narrative Intervention for Students with Williams Syndrome
2018
Narrative skills play a crucial role in organizing experience, facilitating social interaction and building academic discourse and literacy. They are at the interface of cognitive, social, and linguistic abilities related to school engagement. Despite their relative strengths in social and grammatical skills, students with Williams syndrome (WS) do not show parallel cognitive and pragmatic performance in narrative generation tasks. The aim of the present study was to assess retelling of a TV cartoon tale and the effect of an individualized explicit instruction of the narrative structure. Participants included eight students with WS who attended different special education levels. Narratives…
User-oriented evaluation of mechanical single-channel axial pipettes.
2013
Hand tools should be designed so that they are comfortable to use, fit the hand and are user-oriented. Six different manual, single-channel axial pipettes were evaluated for such objective outcomes as muscular activity, wrist postures and efficiency, as well as for subjective outcomes concerning self-assessed features of pipette usability and musculoskeletal strain. Ten experienced laboratory employees volunteered for the study. The results showed that light and short pipettes with better tool comfort resulted in reduced muscular activity and perceived musculoskeletal strain when they were compared with a long and heavy pipette. There were no differences in the efficiency between the differ…
Olfactory configural and elemental abilities in adults with autism
2014
Olfactory configural and elemental abilities in adults with autism. Clinical chemosensation 2014
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
2017
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with ZBTB18 mutations and seven with HNRNPU mutations, an…
Psychomotor disadaptation syndrome
2020
Psychomotor disadaptation syndrome (PDS) was first described by the Geriatrics School of Dijon (France), three decades ago, under the name «psychomotor regression syndrome». Over time, the original clinical features remained unchanged. However, progress has been made in its pathophysiology understanding and care, hence the new name, PDS, appeared in the 1990s. The PDS is also called sub-cortico-frontal dysfunction syndrome since the 2000s. It corresponds to a decompensation of posture, gait and psychomotor automatisms, related to an alteration of the postural and motor programming, which is a consequence of sub-cortico-frontal lesions. The clinical features of PDS associate backward disequi…
In vivo and in vitro sensitivity of blastic plasmacytoid dendritic cell neoplasm to SL-401, an interleukin-3 receptor targeted biologic agent.
2015
International audience; Blastic plasmacytoid dendritic cell neoplasm is an aggressive malignancy derived from plasmacytoid dendritic cells. There is currently no accepted standard of care for treating this neoplasm, and therapeutic strategies have never been prospectively evaluated. Since blastic plasmacytoid dendritic cell neoplasm cells express high levels of interleukin-3 receptor α chain (IL3-Rα or CD123), antitumor effects of the interleukin-3 receptor-targeted drug SL-401 against blastic plasmacytoid dendritic cell neoplasm were evaluated in vitro and in vivo. The cytotoxicity of SL-401 was assessed in patient-derived blastic plasmacytoid dendritic cell neoplasm cell lines (CAL-1 and …
Plasma omega 3 polyunsaturated fatty acids and macular pigment optical density in subjects at high risk for age-related macular degeneration: the Lim…
2016
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.; Purpose: In numerous epidemiological studies, omega 3 polyunsaturated fatty acids (PUFAs) have been associated with a decreased risk of age-related macular degeneration (AMD). Beyond their structural, functional and neuroprotective roles, omega 3 PUFAs may favor the retinal accumulation of lutein and zeaxanthin and thus increase macular pigment optical density (MPOD). We examined the associations of MPOD with plasma omega 3 PUFAs in subjects with at least one parent affected by neovascular AMD. Methods: The Limpia study is a double-blind, placebo controlled, prospective randomize…