Search results for "Retard"

showing 10 items of 146 documents

Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications

2010

The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified …

AdultMaleHeterozygoteBotulinum ToxinsAdolescentMethyl-CpG-Binding Protein 2MECP2 duplication syndromeMothersBiologyMECP2Gene duplicationGeneticsmedicineHumansChildGenetics (clinical)X chromosomeMuscle contractureChromosome AberrationsGeneticsChromosomes Human XBreakpointInfantmedicine.diseasePedigreeXq28Child PreschoolMental Retardation X-LinkedFemaleChromosome breakageAmerican Journal of Medical Genetics Part A
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Oxidant and antioxidant status in mothers and their newborns according to birthweight

2008

The aim of this study is to determine the oxidant and antioxidant status in Algerian mothers and their newborns according to birth weight.Subjects for the study were consecutively recruited from Tlemcen hospital. 139 pregnant women and their newborns were included. The plasma total antioxidant activity (ORAC), vitamins A, C, E, hydroperoxides, carbonyl proteins, and erythrocyte antioxidant enzyme activities (catalase, glutathione peroxidase, glutathione reductase and superoxide dismutase) were measured on mothers and their newborns. Lipid and lipoprotein parameters were also determined. The results were assessed in accordance with small for gestational age (SGA), appropriate (AGA) and large…

AdultMalePediatricsmedicine.medical_specialtyErythrocytesAntioxidantLipoproteinsmedicine.medical_treatmentBirth weightGlutathione reductaseIntrauterine growth restrictionPhysiologyAscorbic AcidAntioxidantsPregnancymedicineBirth WeightHumansVitamin EVitamin Achemistry.chemical_classificationGlutathione PeroxidaseFetal Growth RetardationSuperoxide Dismutasebusiness.industryVitamin EGlutathione peroxidaseInfant NewbornObstetrics and GynecologyCatalaseOxidantsmedicine.diseaseAscorbic acidLipidsOxidative StressGlutathione ReductaseReproductive MedicinechemistryInfant Small for Gestational AgeSmall for gestational ageFemalebusinessEuropean Journal of Obstetrics & Gynecology and Reproductive Biology
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The value of the short-term fetal heart rate variation for timing the delivery of growth-retarded fetuses.

2008

OBJECTIVE: To assess the clinical value of the short-term fetal heart rate variation (STV) for timing the delivery of severely growth-retarded fetuses, many associated with pre-eclampsia. DESIGN: Retrospective cohort study. SETTING: John Radcliffe Maternity Hospital, Oxford, UK. POPULATION: Two hundred and fifty-seven fetuses with a birthweight less than third percentile and a last computerised cardiotocography performed within 24 h of delivery. METHODS: Analysis of the relationship between antepartum STV and the perinatal outcome. MAIN OUTCOME MEASURES: Stillbirth rate and the acid-base status at birth. RESULTS: There were no stillbirths or neonatal deaths (NNDs) within 24 h in the study p…

AdultMalePercentilemedicine.medical_specialtyTime FactorsAdolescentCardiotocographyGestational AgeAcid-Base ImbalanceHeart ratemedicineHumansCardiotocographyreproductive and urinary physiologyRetrospective StudiesFetusPregnancyFetal Growth Retardationmedicine.diagnostic_testbusiness.industryObstetricsInfant NewbornObstetrics and GynecologyRetrospective cohort studyHeart Rate Fetalmedicine.diseaseDelivery ObstetricGestationPopulation studyFemalebusinessBJOG : an international journal of obstetrics and gynaecology
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Lexical decision tasks in depressive patients: semantic priming before and after clinical improvement.

2002

SummaryThis study was designed to evaluate the effect of semantic priming with a lexical decision task in 22 depressed patients (DSM-III-R, 1987) and 30 control subjects. These patients were evaluated twice: first when they arrived at the hospital, and secondly, after clinical improvement. Clinical improvement was evaluated using standard depression rating scales. A lexical decision task involving semantic relations (related vs. unrelated, e.g., apple-pear) was used to evaluate the processing of semantic information. The results showed that, for the first evaluation, the depressives presented similar semantic priming to control subjects. When we compared semantic priming in the first and th…

AdultMalePopulationDecision MakingWord Association TestsNeuropsychological TestsDevelopmental psychologyThinking03 medical and health sciences0302 clinical medicineRating scaleLexical decision taskmedicineHumans030212 general & internal medicineSemantic informationeducationeducation.field_of_studyDepressive DisorderPsychomotor retardationCognitionMiddle AgedControl subjectsPaired-Associate Learning030227 psychiatrySemanticsPsychiatry and Mental healthCase-Control StudiesFemaleFrancemedicine.symptomPsychologyPriming (psychology)Psychomotor PerformanceCognitive psychologyEuropean psychiatry : the journal of the Association of European Psychiatrists
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Development of a New Nordic Diet score and its association with gestational weight gain and fetal growth - A study performed in the Norwegian Mother …

2014

AbstractObjectiveTo construct a diet score for assessing degree of adherence to a healthy and environmentally friendly New Nordic Diet (NND) and to investigate its association with adequacy of gestational weight gain and fetal growth in a large prospective birth cohort.DesignMain exposure was NND adherence, categorized as low, medium or high adherence. Main outcomes were adequacy of gestational weight gain, described as inadequate, optimal or excessive according to the 2009 Institute of Medicine guidelines, and fetal growth, categorized as being small, appropriate or large for gestational age. Associations of NND adherence with gestational weight gain and fetal growth were estimated with mu…

AdultMaleRiskPediatricsmedicine.medical_specialtyAdolescentVDP::Gynekologi og obstetrikk: 756Birth weightMedicine (miscellaneous)Health PromotionWeight GainModels BiologicalNutrition PolicyCohort StudiesFetal DevelopmentNutrient densityYoung AdultPregnancymedicineHumansProspective StudiesProspective cohort studyVDP::Gynaecology and obstetrics: 756PregnancyFetal Growth RetardationNutrition and DieteticsNorwaybusiness.industryObstetricsInfant NewbornPublic Health Environmental and Occupational HealthGestational ageMaternal Nutritional Physiological PhenomenaOverweightmedicine.diseaseDietPregnancy ComplicationsPatient ComplianceSmall for gestational ageFemalemedicine.symptombusinessWeight gainFollow-Up StudiesCohort study
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Effects on Heat Stress of a Flame-Retardant Ensemble for Aluminum Smelters

2000

A common belief is that a flame-retardant clothing ensemble will increase the level of heat stress over ordinary cotton work clothes. This is supported by bench tests on fabrics that indicate higher insulation and vapor resistance values for flame-retardant clothing. This research compared a flame-retardant clothing ensemble for an aluminum smelter (Zirpo wool shirt and FR8 denim pants) with typical cotton work clothing. Four young men walked on a treadmill at two work levels inside a climatic chamber under controlled conditions of heat stress. During each test, heart rate, core temperature, and skin temperatures were continuously monitored and recorded every 5 min. After a physiological st…

AdultMaleWork (thermodynamics)Threshold limit valuebusiness.industryWet-bulb globe temperatureEnvironmental engineeringPublic Health Environmental and Occupational HealthHumidityHeat Stress DisordersAtmospheric sciencesClothingStress (mechanics)Protective ClothingInflection pointOccupational ExposureMetallurgyHumansEnvironmental scienceRelative humidityThreshold Limit ValuesbusinessAluminumFlame RetardantsAIHAJ
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Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort…

2015

Background The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype–phenotype correlations and phenotypic variability have yet to be fully clarified. Methods We report genotype–phenotype correlations in 27 novel subjects with 17q21.31 deletion and in 5 subjects with KANSL1 point mutation , 3 of whom were not previously reported. Results The prevalence of chromosome deletion and KANSL1 mutation was 83% and 17%, respectively. All patient…

AdultMalemedicine.medical_specialtyAdolescentgenotype-phenotype correlationsKoolen De Vries syndromeKANSL1 mutationHaploinsufficiencyBiologySettore MED/03 - GENETICA MEDICASeverity of Illness IndexCraniofacial AbnormalitiesYoung AdultSeizuresMolecular geneticsGeneticsmedicineHumansAbnormalities MultipleLanguage Development DisordersChildGenetics (clinical)Genetic Association StudiesGeneticsOptic nerve hypoplasiaFetal Growth RetardationPoint mutationMacrocephalyInfantNuclear ProteinsSyndromeclinical heterogeneitySmith–Magenis syndromemedicine.diseaseChild PreschoolSpeech delayFemalemedicine.symptomChromosome DeletionSmith-Magenis SyndromeHaploinsufficiencyChromosomes Human Pair 1717q21.31 deletion
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Multiple pregnancies and air pollution in moderately polluted cities: Is there an association between air pollution and fetal growth?

2018

Background: Multiple pregnancies (where more than one fetus develops simultaneously in the womb) are systematically excluded from studies of the impact of air pollution on pregnancy outcomes. This study aims to analyze, in a population of multiple pregnancies, the relationship between fetal growth restriction (FGR), small for gestational age (SGA) and exposure to air pollution in moderately polluted cities. Methods: All women with multiple pregnancies living in the city of Besançon or in the urban area of Dijon and who delivered at a university hospital between 2005 and 2009 were included. FGR and SGA were obtained from medical records. Outdoor residential nitrogen dioxide (NO2) exposure wa…

AdultMalemedicine.medical_specialtyNitrogen dioxide NO2Nitrogen DioxidePopulationAir pollution010501 environmental sciencesmedicine.disease_causeLogistic regression01 natural sciencesFetal Development03 medical and health sciences0302 clinical medicinePregnancyAir PollutionmedicineHumans030212 general & internal medicineCitieseducationMaternal-Fetal Exchangelcsh:Environmental sciences0105 earth and related environmental sciencesGeneral Environmental Sciencelcsh:GE1-350Air PollutantsPregnancyeducation.field_of_studyFetusFetal Growth RetardationObstetricsbusiness.industryMultiple pregnanciesFetal growth restrictionInfant NewbornPregnancy Outcome[SHS.GEO]Humanities and Social Sciences/GeographyOdds ratiomedicine.diseaseConfidence intervalSmall for gestational age SGAMaternal ExposureInfant Small for Gestational AgeSmall for gestational ageFemalePregnancy MultiplebusinessEnvironment International
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Relationships between psychomotor retardation and EEG power spectrum in major depression.

1992

In 63 depressed patients, the associations between severity of depression, psychomotor retardation, assessed by the Bech-Rafaelsen Melancholia Scale, and EEG spectral analysis were examined. Slow EEG activity (theta 2/alpha 1 bands) was positively and fast activity (alpha 3/beta bands) negatively correlated with the observed retardation. Out of the four retardation subitems (motor, verbal, intellectual and emotional), motor retardation was closest correlated with slow EEG activity.

AdultMalemedicine.medical_specialtyPsychometricsAlpha (ethology)AudiologyElectroencephalographyFunctional LateralityMelancholiamedicineHumansSpectral analysisTheta RhythmPsychiatryBiological PsychiatryDepression (differential diagnoses)AgedPsychiatric Status Rating ScalesDepressive DisorderPsychomotor retardationmedicine.diagnostic_testBrainElectroencephalographyMiddle AgedPsychiatry and Mental healthAlpha RhythmNeuropsychology and Physiological PsychologyFemalemedicine.symptomPsychomotor DisordersPsychomotor disorderPsychologyFactor Analysis StatisticalNeuropsychobiology
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Antiphospholipid syndrome in obstetrics.

2003

Antiphospholipid syndrome (APLS) in pregnancy is characterized by the presence of autoantibodies in association with recurrent fetal loss and severe complications such as preeclampsia, fetal growth retardation, or placental insufficiency. The most clinically important serologic markers are lupus anticoagulant, anticardiolipin antibodies, and recently anti-beta-2-glycoprotein 1 antibodies. At present, standardization does not exist and a definitive association between specific clinical manifestation and antibody level is not yet known. Experimental data gave evidence that passive transfer of antiphospholipid antibodies result in clinical manifestation of APLS, that is, fetal loss and thromb…

Adultmedicine.medical_specialtyAbortion HabitualPlacental insufficiency030204 cardiovascular system & hematologyGastroenterologyPreeclampsia03 medical and health sciences0302 clinical medicinePre-Eclampsiaimmune system diseasesAntiphospholipid syndromePregnancyInternal medicinemedicinePrevalenceHumansThrombophiliaAnnexin A5030203 arthritis & rheumatologyLupus anticoagulantAspirinPregnancyFetal Growth RetardationAspirinbusiness.industryHeparinStandard treatmentInfant NewbornAnticoagulantsImmunoglobulins IntravenousHematologyGeneral MedicineHeparinmedicine.diseaseAntiphospholipid SyndromePlacental InsufficiencyThrombocytopeniaAbortion SpontaneousPregnancy ComplicationsAntibodies AnticardiolipinLupus Coagulation InhibitorImmunologyPrednisoneFemalebusinessImmunity Maternally-AcquiredImmunosuppressive Agentsmedicine.drugClinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
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