Search results for "Retardation"
showing 10 items of 76 documents
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…
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.
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.
Pathology of Rotavirus-driven Multiple Organ Failure in a 16-month-old Boy
2019
International audience; Autopsy investigation of a fatal case of rotavirus severe acute gastroenteritis and multiple organ failure in a 16-month boy with previous intrauterine growth retardation showed colocalization of nonstructural and structural rotavirus proteins within viroplasms in nephrons. This case brings new insights into extraintestinal rotavirus infection and new clues to its abilities to bind to human histo-blood group antigens.
Broadening the phenotypic spectrum and physiological insights related toEIF2S3variants
2021
Mental deficiency, epilepsy, hypogonadism, microcephaly and obesity (MEHMO) syndrome is a severe X-linked syndrome caused by pathogenic variants in EIF2S3. The gene encodes the γ subunit of the eukaryotic translation initiation factor-2, eIF2, essential for protein translation. A recurrent frameshift variant is described in severely affected patients while missense variants usually cause a moderate phenotype. We identified a novel missense variant (c.433A>G, p.(Met145Val)) in EIF2S3 in a mildly affected patient. Studies on zebrafish confirm the pathogenicity of this novel variant and three previously published missense variants. CRISPR/Cas9 knockout of eif2s3 in zebrafish embryos recapitula…
Ythdf is a N6‐methyladenosine reader that modulates Fmr1 target mRNA selection and restricts axonal growth in Drosophila
2021
Abstract N6‐methyladenosine (m6A) regulates a variety of physiological processes through modulation of RNA metabolism. This modification is particularly enriched in the nervous system of several species, and its dysregulation has been associated with neurodevelopmental defects and neural dysfunctions. In Drosophila, loss of m6A alters fly behavior, albeit the underlying molecular mechanism and the role of m6A during nervous system development have remained elusive. Here we find that impairment of the m6A pathway leads to axonal overgrowth and misguidance at larval neuromuscular junctions as well as in the adult mushroom bodies. We identify Ythdf as the main m6A reader in the nervous system,…
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation
2015
no abstract available
Common variants conferring risk of schizophrenia
2009
Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative ris…
Meson retardation in deuteron electrodisintegration
2004
The effect of meson retardation in $NN$-interaction and exchange currents on deuteron electrodisintegration is studied in a coupled channel approach including $NN$-, $N \Delta$- and $\pi d$-channels. It is shown that the influence of retardation depends on the energy regime: Whereas below $\pi$-threshold calculations with static and retarded operators yield almost identical results, they differ significantly in the $\Delta$-region. Especially, the longitudinal and the longitudinal-transverse interference structure functions are strongly affected.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
2020
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.MethodsTo further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.ResultsWe identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, …