Search results for "Retard"
showing 10 items of 146 documents
Ernährungsphysiologie erhitzter Fette: Langfristige Tierversuche
1974
Das Fette, die bei intensiver Beruhrung mit dem Luftsauerstoff langere Zeit auf hohere Temperaturen erhitzt worden sind, toxische Eigenschaften entwickeln, ist in vielen Laboratorien ubereinstimmend gezeigt worden. Je nach Schwere des Eingriffs reichen die bei Futterungsversuchen erhobenen Befunde von einer praktisch symptomenlosen Vertraglichkeit uber mehr oder minder schwere Wachstumsverzogerungen junger Tiere bis zu einer hohen Toxicitat wie starke Erhohung der Letalitatsrate und schweren anatomischen und histologischen Veranderungen der Organe. Fritierfette haben sich beim Einhalten der folgenden Bedingungen: Temperaturen nicht uber 180° C, Vermeiden jeder lokalen Uberhitzung durch einw…
Biomarkers, matrices and analytical methods targeting human exposure to chemicals selected for a European human biomonitoring initiative
2020
E-mail addresses: kvo@envs.au.dk (K. Vorkamp), Castano@isciii.es (A. Castaño), Jean-Philippe.Antignac@oniris-nantes.fr (J.-P. Antignac), Luis.Boada@ulpgc.es (L.D. Boada), ECequier@quimica.udl.cat (E. Cequier), Adrian.Covaci@uantwerpen.be (A. Covaci), M.Esteban@isciii.es (M. Esteban López), LineSmastuen.Haug@fhi.no (L.S. Haug), Kasper@ipa-dguv.de (M. Kasper-Sonnenberg), Koch@ipa-dguv.de (H.M. Koch), Octavio.Perez@ulpgc.es (O. Pérez Luzardo), Agnese.Osite@lu.lv (A. Osīte), Loic.Rambaud@santepubliquefrance.fr (L. Rambaud), mtpin@ticino.com (M.-T. Pinorini), Gabriele.Sabbioni@bluewin.ch (G. Sabbioni), Cathrine.Thomsen@fhi.no (C. Thomsen).; International audience; The major purpose of human biom…
Fluence Rate or Cumulative Dose? Vulnerability of Larval Northern Pike (Esox lucius) to Ultraviolet Radiation
2007
Newly hatched larvae of northern pike were exposed in the laboratory to four fluence rates of ultraviolet radiation (UVR; 290-400 nm) over three different time periods, resulting in total doses ranging from 3.0 +/- 0.2 to 63.0 +/- 4.4 kJ.m(-2). Mortality and behavior of the larvae were followed for 8-12 days, and growth measured at the end of the experiment. Also, the principle of reciprocity-that the UVR-induced mortality depends on the cumulative dose, independent of fluence rate-was tested. Fluence rates higher than 1480 +/- 150 mW.m(-2) caused mortality and growth retardation. The highest fluence rate (3040 +/- 210 mW.m(-2)) caused 100% mortality in 5 days. All fluence rates caused beha…
Can PBDEs affect the pathophysiologic complex of epithelium in lung diseases?
2020
Brominated flame-retardant (BFRs) exposure promotes multiple adverse health outcomes involved in oxidative stress, inflammation, and tissues damage. We investigated BFR effects, known as polybrominated diphenyl ethers (PBDEs) (47, 99 and 209) in an air-liquid-interface (ALI) airway tissue derived from A549 cell line, and compared with ALI culture of primary human bronchial epithelial cells (pHBEC). The cells, exposed to PBDEs (47, 99 and 209) (0.01-1 mu M) for 24 h, were studied for IL-8, Muc5AC and Muc5B (mRNAs and proteins) production, as well as NOX-4 (mRNA) expression. Furthermore, we evaluated tight junction (TJ) integrity by Trans-Epithelial Electrical Resistance (TEER) measurements, …
Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome
2017
Abstract Objective To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome. Design, patients, measurements We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108). In vitro studies were performed to functionally characterize these mutations. Congenital hypothyroidism (CH) was identified by neonatal screening associated with a hypoplastic thyroid gland. Postpartum he developed a brain-lung-thyroid syndrome with severe respiratory failure, symptomatic epilepsy and a considerable psychomotor retardation. The DNA-bi…
Corticotroph aggressive pituitary tumours and carcinomas frequently harbour ATRX mutations
2021
Abstract Context Aggressive pituitary tumors (APTs) are characterized by unusually rapid growth and lack of response to standard treatment. About 1% to 2% develop metastases being classified as pituitary carcinomas (PCs). For unknown reasons, the corticotroph tumors are overrepresented among APTs and PCs. Mutations in the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, regulating chromatin remodeling and telomere maintenance, have been implicated in the development of several cancer types, including neuroendocrine tumors. Objective To study ATRX protein expression and mutational status of the ATRX gene in APTs and PCs. Design We investigated ATRX protein expression by us…
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
2016
Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 and to an in-frame deletion of 26 amino acids in the TM4 domain. It segregates with cognitive impairment or learning difficulties in other members of the family. Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmo…
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
2017
International audience; Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routinely tested in ID patients. We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported hemizygous deletion encompassing the last exon of FMR1, too small to be detected by array-CGH and inducing decreased expression of a truncated form of FMRP protein, in three brothers with ID (family 1) and two splice variants in boys with sporadic ID: a de novo …
Low birth weight at term impairs cord serum lipoprotein compositions and concentrations
1998
The purpose of this study was to determine the effect of low birth weight at term on serum lipoproteins. Lipid and apolipoprotein (apo) contents were investigated in cord sera of small-for-gestational-age (SGA) newborns at term (2290 g +/- 33 g) and compared with those of appropriate-for-gestational-age (AGA) newborns (3570 g +/- 93 g). In SGA newborns, VLDL amounts were twofold higher, whereas LDL, HDL2 and HDL3 contents were lower than in AGA newborns (-38%, -44% and -42%, respectively). VLDL-triacylglycerols (TG), apo B-100 and apo E were higher, while VLDL-apo C-II values were 39% lower in SGA newborns compared with those of AGA newborns. In SGA newborns, HDL2-apolipoprotein, phospholip…
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation
2006
International audience; Objective: Autism is a complex, largely genetic psychiatric disorder. In the majority of cases, the cause of autism is not known, but there is strong evidence for a genetic etiology. To identify candidate genes, the physical mapping of balanced chromosomal aberrations is a powerful strategy, since several genes have been characterized in numerous disorders. In this study, the authors analyzed a balanced reciprocal translocation arising de novo in a subject with autism and mental retardation. Method: The authors performed the physical mapping of the balanced 9q23/ 10q22 translocation by fluorescent in situ hybridization experiments using bacterial artificial chromosom…