Search results for "Retard"
showing 10 items of 146 documents
Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities
2019
Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children wit…
Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families
2012
Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 subjects) with at least two children affected, according to categorical restrictive criteria for phenotype definition. Significant results emerged on Xq27.3 within DYX9. The maximum multipoint LOD score reached 3,884 between rs12558359 and rs454992. Within this region, seven candidate genes were investigated for mutations in exonic sequences (CXORF1, CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB), al…
Are ratings of psychomotor retardation correlated with neuropsychological measurements?
1989
The present study investigated the correlation between retardation, assessed by the Bech-Rafaelsen Melancholia Scale (BRMS), and measurements of reaction time and motor performance in 26 elderly depressed patients. Significant correlations were only detected between motor retardation and the number and duration of faults in the line following part of the motor performance test. The total scores of the BRMS and the Hamilton Depression Scale did not correlate significantly with any of the performed measurements.
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystroph…
2003
OBJECTIVE: To identify the molecular defect by which psychomotor retardation is caused in two brothers with congenital hypothyroidism who received adequate treatment with l-thyroxine. CASE REPORT: A six-year-old boy presented with psychomotor retardation and congenital primary hypothyroidism (CH). The patient had a normal blood thyrotrophin (TSH) level on neonatal screening, but low total serum thyroxine and triiodothyronine concentrations prompting thyroid hormone substitution shortly after birth. Nevertheless, psychomotor development was retarded and the patient underwent further investigation. Typical features of Albright's hereditary osteodystrophy (AHO) such as round face, obesity, and…
Relationship between birth weight and awake blood pressure in children and adolescents in absence of intrauterine growth retardation.
1996
This study was designed to examine the relationship between birth weight (BW) and ambulatory blood pressure in children and adolescents, born at term in absence of intrauterine growth retardation. Twenty-four hour ambulatory blood pressure monitoring (ABPM) was performed on 332 children (150 boys), aged from 6 to 16 years. Subjects were stratified by BW tertiles and age. ABPM was performed using SpaceLabs 90207 monitor during a regular school day. Blood pressure (BP) was measured every 20 min from 06:00 to 24:00, and thereafter every 30 min. Means of systolic BP (SBP) and diastolic BP (DBP) during 24 h, daytime (08:00 to 22:00), and nighttime (24:00 to 06:00) were calculated. Systolic and d…
Monochorionic twin pregnancy: screening, pathogenesis of complications and management in the era of microinvasive fetal surgery
2010
Objective The management of monochorionic (MC) twin pregnancies varies in different medical centers. This paper compares screening methods to predict the complications of the MC twin pregnancy and different treatment methods. Methods We performed a literature search without language restriction in Cochrane library and PubMed (1970-2009). Case series and cohort screening studies, pathogenesis and management of complications of MC pregnancy were included. Results Elevated risk for intrauterine fetal death (IUFD) and twin-to-twin transfusion syndrome (TTTS) can be detected sonographically. Monitoring of MC pregnancies at increased risk and regular training sessions for the operating team combi…
Halloysite Nanotubes: Interfacial Properties and Applications in Cultural Heritage
2020
The peculiar surfaces of halloysite nanotubes and their biocompatibility are attracting the interest of researchers based on the wide range of attainable applications. The large aspect ratio of this nanotubular material ensures promising properties as a reinforcing agent in polymeric matrixes, such as cellulose and its derivatives, that entail strengthening due to, for instance, aging-induced degradation. The halloysite cavity has a suitable size for hosting a large variety of active species such as deacidifying (calcium hydroxide) and flame retardant agents (fluorinated surfactants) for a controlled and sustained release relevant to the conservation of cultural heritage. Additionally, anio…
Influence of orthophosphate ions on the dissolution of tricalcium silicate
2008
International audience; Tricalcium silicate dissolution in the presence of orthophosphate ions was monitored by measuring the concentrations of calcium and silicate ions in dilute suspensions using a special dissolution cell coupled to an optical emission spectrometer. Results show that increasing adsorption of orthophosphate ions slows down the dissolution of Ca3SiO5 and that a calcium-phosphate precipitate may form at certain orthophosphate concentrations. These observations are correlated with results of calorimetric experiments carried out during the hydration of silica-rich cement pastes in the presence of the same salts.
Thermal stability and flammability of polyolefin/halloysite nanotubes composites
2015
Najnowsze badania w zakresie uniepalniania poliolefin są ukierunkowane na zastosowanie dodatku nanorurek haloizytowych (HNT) jako bezhalogenowego środka zmniejszającego palność, a jednocześnie zachowującego właściwości mechaniczne osnowy. Powstająca na powierzchni płonącego nanokompozytu, zawierającego HNT, warstwa tzw. zgorzeliny ogranicza przenikanie gazów oraz ciepła i zabezpiecza materiał przed dalszym paleniem. Unikatowa struktura HNT umożliwia dodatkowo pochłanianie produktów termicznego rozkładu poliolefinowej osnowy. Na podstawie dostępnej literatury dokonano oceny wpływu różnych czynników, m.in. modyfikacji nanorurek haloizytowych i/lub dodatku kompatybilizatora i/lub doboru odpowi…
The angelman syndrome: A brief review
2017
Angelman's Syndrome (AS) was described for the first time by Harry Angelman in the 1960s, based on obervation of three child patients with similar physical and behavioral features such as severe intellectual impairment, lack of language, motor disorders and happy behaviour. Many years later the typical patients' features were identified as linked to genetic abnormalities mainly characterized by neurological symptoms. Life expectancy is good although the symptoms tend to be stable and severe.