Search results for " First"

showing 10 items of 329 documents

Analysis of thiamine transporter genes in sporadic beriberi

2014

Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…

AdultMalemedicine.medical_specialtySLC19 A- SLC25 A19SLC19 AEndocrinology Diabetes and MetabolismGene mutationBeriberimedicine.disease_causeMitochondrial Membrane Transport Proteinslaw.inventionBeriberilawInternal medicineGenotypemedicineThiamine transporterObjective: Thiamine or vitamin B1 deficiency diminishes thiamine-dependent enzymatic activity alters mitochondrial function impairs oxidative metabolism and causes selective neuronal death. We analyzed for the first time the role of all known mutations within three specific thiamine carrier genes SLC19 A2 SLC19 A3 and SLC25 A19 in a patient with atrophic beriberi a multiorgan nutritional disease caused by thiamine deficiency. Methods: A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema a subacute sensorimotor neuropathy and incontinence. Despite normal vitamin B1 serum levels his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database. Results: Thirty-seven mutations were tested: 29 in SLC19 A2 6 in SLC19 A3 and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated. Conclusion: This is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations in the same genes or in other thiamine-associated genes in the occurrence of this nutritional neuropathy.HumansThiamineGenePolymerase chain reactionGeneticsMutationNutrition and DieteticsbiologyMembrane Transport ProteinsThiamine Deficiencymedicine.diseaseAlcoholismEndocrinologyMutationbiology.proteinThiamineMutations
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Female overweight is not associated with a higher embryo euploidy rate in first trimester miscarriages karyotyped by hysteroembryoscopy.

2011

Overweight women (body mass index ≥ 25 kg/m(2)) present an embryo euploidy rate in first trimester miscarriages similar to normoweight controls after a selective biopsy and karyotyping of embryo and/or chorion samples taken by hysteroembryoscopy.

AdultMalemedicine.medical_specialtyanimal structuresAneuploidyHysteroscopyOverweightPregnancyBiopsymedicineHumansRetrospective StudiesGynecologymedicine.diagnostic_testObstetricsbusiness.industryFetoscopyObstetrics and GynecologyEmbryoKaryotypeOverweightmedicine.diseaseAbortion SpontaneousFirst trimesterPregnancy Trimester FirstReproductive MedicineKaryotypingembryonic structuresFemalemedicine.symptomPloidybusinessBody mass indexFertility and sterility
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Vitamin D serum levels in multiorgan failure critically ill patients undergoing continuous renal replacement therapies

2020

Introduction Severe vitamin D deficiency in critically ill patients is linked to mortality. There are no scientific data regarding vitamin D status in critically ill patients undergoing continuous renal replacement therapies. Material and methods We aimed to measure vitamin D serum levels in critically ill patients with multi-organ failure undergoing continuous renal replacement therapies. Vitamin D serum measurements in 12-hour time intervals were performed in 20 patients undergoing continuous renal replacement therapies through continuous veno-venous haemodiafiltration (the study group). The results were then compared with the historical control group (20 patients without renal replacemen…

AdultMalemedicine.medical_specialtymedicine.medical_treatmentcontinuous renal replacement therapyvitamin DCritical Care and Intensive Care MedicineSeverity of Illness IndexGastroenterologyvitamin D deficiencyAnesthesiologyInternal medicineIntensive caremedicineVitamin D and neurologyHumanscritical illnessRD78.3-87.3Renal replacement therapycritical illness.intensive careRC86-88.9Critically illbusiness.industryAcute kidney injuryMedical emergencies. Critical care. Intensive care. First aidGeneral MedicineMiddle AgedVitamin D Deficiencymedicine.diseaseMultiorgan failureAnesthesiology and Pain Medicineacute kidney injuryCase-Control StudiesCritical illnessbusinessAnaesthesiology Intensive Therapy
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Smoking Habits, Nicotine Use, and Congenital Malformations

2006

OBJECTIVE: We examined whether maternal smoking and use of nicotine substitutes during the first 12 weeks of pregnancy increased the prevalence of congenital malformations in general and of certain congenital malformations in particular. METHODS: In the Danish National Birth Cohort (1997– 2003) we identified 76,768 pregnancies (and their subsequent singleton births); 20,603 were exposed to tobacco smoking during the first 12 weeks of pregnancy. Birth outcomes were collected by linkage to the Central Population Register, the National Patients Register, and the National Birth Register. We identified congenital malformations from the Hospital Medical Birth Registry as they were recorded at bir…

AdultNicotinemedicine.medical_specialtyPediatricsDenmarkPrevalenceCongenital AbnormalitiesNicotineDanishPregnancyEpidemiologyConfidence IntervalsPrevalencemedicineHumansRegistriesProbabilityRetrospective StudiesPregnancybusiness.industryPublic healthSmokingObstetrics and GynecologyRetrospective cohort studyMiddle Agedmedicine.diseaseConfidence intervallanguage.human_languagePregnancy Trimester FirstSocioeconomic FactorsMaternal ExposurelanguageEducational StatusFemalebusinessAttitude to HealthMaternal Agemedicine.drugObstetrics & Gynecology
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Prospective sonographic detection of spina bifida at 11–14 weeks and systematic literature review

2015

Objective: To conduct a literature review to assess the effectiveness of first trimester ultrasonographic markers of spina bifida (SB) integrating data with our prospective experience. Methods: The analysis of the SB cases that we prospectively detected in the first trimester, between January 2012 and February 2014, and a systematic review of all the papers evaluating the effectiveness of SB ultrasonographic markers at 11–14 weeks, namely brain stem diameter (BS), fourth ventricle/intracranial translucency (IT), cisterna magna (CM), brain stem/occipital bone distance (BSOB), the ratio between BS and BSOB. Some studies assess only the effectiveness of IT, others include more parameters, and …

AdultPediatricsmedicine.medical_specialtyBrain stem cisterna magna first trimester screening fossa intracranial translucency neural tube defect posterior ultrasoundLow risk populationCisterna magnaFourth ventricleUltrasonography PrenatalPregnancyCisterna MagnamedicineHumansProspective StudiesProspective cohort studySpinal DysraphismFourth VentriclePregnancyNeural tube defectbusiness.industrySpina bifidaObstetrics and Gynecologymedicine.diseasePregnancy Trimester FirstSystematic reviewOccipital BonePediatrics Perinatology and Child HealthFemaleNuclear medicinebusinessBrain StemThe Journal of Maternal-Fetal & Neonatal Medicine
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Interferon-beta exposure during first trimester is safe in women with multiple sclerosis-A prospective cohort study from the German Multiple Sclerosi…

2015

Background: Available data suggest that pregnancy exposure to interferon-beta might result in lower mean birth weight and preterm birth. Objective: To determine the effect of interferon-beta exposure during pregnancy on pregnancy outcomes in multiple sclerosis patients. Methods: We compared the pregnancy outcomes of women exposed to interferon-beta with pregnancies unexposed to disease-modifying therapies. Women were enrolled into the German Multiple Sclerosis and Pregnancy Registry. A standardized questionnaire was administered during pregnancy and postpartum. Detailed information on course of multiple sclerosis and pregnancy, concomitant medications, delivery, and outcome of pregnancy was…

AdultPediatricsmedicine.medical_specialtyMultiple SclerosisBirth weightGerman03 medical and health sciences0302 clinical medicinePregnancyGermanymedicineBirth WeightHumansImmunologic Factors030212 general & internal medicineProspective StudiesRegistriesProspective cohort studyPregnancy registryPregnancyInterferon betabusiness.industryMultiple sclerosisInfant NewbornAbnormalities Drug-InducedInterferon-betamedicine.diseaselanguage.human_languageBody HeightAbortion SpontaneousPregnancy ComplicationsFirst trimesterPregnancy Trimester FirstNeurologylanguagePremature BirthFemaleNeurology (clinical)business030217 neurology & neurosurgeryMultiple sclerosis (Houndmills, Basingstoke, England)
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Reference Ranges and Distribution of Placental Volume by 3-Dimensional Virtual Organ Computer-Aided Analysis Between 11 Weeks and 13 Weeks 6 Days

2013

OBJECTIVES The purpose of this study was to determine the feasibility, reproducibility, and distribution of placental volume measurements according to the crown-rump length between 11 weeks and 13 weeks 6 days. METHODS Images were acquired in 128 pregnancies followed in Burgundy during first-trimester screening sonography using an abdominal 3-dimensional transducer. The placental volume was then calculated by the virtual organ computer-aided analysis method with a rotation angle of 30° by a single operator. RESULTS Placental volumes ranged from 33.3 to 107.6 cm(3) with a mean ± SD of 62.3 ± 14.8 cm(3); the 5th and 10th percentiles were 38.0 and 44.20 cm(3), respectively, whereas the 90th an…

AdultPercentileAdolescentSensitivity and SpecificityCrown-Rump LengthUltrasonography PrenatalMean differenceYoung AdultImaging Three-DimensionalPregnancyReference ValuesImage Interpretation Computer-AssistedPlacental volumeHumansMass ScreeningMedicineRadiology Nuclear Medicine and imagingMass screeningCrown-rump lengthReproducibilityRadiological and Ultrasound Technologybusiness.industryReproducibility of ResultsOrgan SizeOrgan SizePregnancy Trimester FirstFemaleFrancebusinessNuclear medicineIntraobserver reproducibilityJournal of Ultrasound in Medicine
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Reference Values of Thyroid Hormones During the First Trimester of Pregnancy in Valencian Community (Spain) and Their Relationship with Iodine Intake

2020

Thyroid hormones require special monitoring during the first trimester of gestation. Local reference values should be applied if available, especially in iodine-deficient areas, as generalized iodine supplementation is controversial. The aim of the present study was to establish thyroid stimulating hormone (TSH) and free thyroxine (FT4) reference values in the first trimester of gestation in the Valencian community (Spain) and relate them to iodine intake. A total of 261 healthy pregnant women participated in the study. The calculated reference values were 0.128&ndash

Adultendocrine systemendocrine system diseasesNutritional Statuschemistry.chemical_elementPhysiology030209 endocrinology & metabolismlcsh:TX341-641Thyroid Function TestsIodineArticleEating03 medical and health sciences0302 clinical medicineThyroid-stimulating hormonegestationPregnancymedicineHumans030212 general & internal medicineSodium Chloride Dietarythyroid hormonesiodine deficiencyPregnancyNutrition and Dieteticsbusiness.industryThyroidioduriaMaternal Nutritional Physiological Phenomenareference valuesmedicine.diseaseIodine deficiencyiodized saltHealthy VolunteersPregnancy Trimester FirstIodised saltCross-Sectional Studiesmedicine.anatomical_structurechemistrySpainReference valuesDietary SupplementsGestationFemalebusinesslcsh:Nutrition. Foods and food supplyhormones hormone substitutes and hormone antagonistsIodineFood ScienceNutrients
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Maternal coffee drinking in pregnancy and risk of small for gestational age birth

2005

Objective: We have analysed the association between coffee drinking before and during the three trimesters of pregnancy and risk of small for gestational age (SGA) birth. Methods: Cases were 555 women who delivered SGA births (ie <10th percentile according Italian standard). The controls included 1966 women who gave birth at term (≥37 weeks of gestation) to healthy infants of normal weight. Results: In comparison with nondrinkers, the ORs for SGA birth were 1.3 (95% confidence interval, CI, 0.9–1.9) for consumption of four or more cups of coffee/day before pregnancy, and 1.2 (95% CI 0.8–1.8), 1.2 (95% CI 0.8–1.8) and 0.9 (95% CI 0.6–1.4) for consumption of three or more cups of coffee/day d…

Adultmedicine.medical_specialtyAdolescentEpidemiologyPregnancy Trimester ThirdMedicine (miscellaneous)CoffeeRisk FactorsPregnancyEpidemiologyOdds RatioHumansMedicineRisk factorPregnancyNutrition and DieteticsDose-Response Relationship Drugbusiness.industryObstetricsRisk FactorConfoundingInfant NewbornPregnancy Outcomemedicine.diseaseConfidence intervalDietSmall for gestational age birthPregnancy Trimester FirstCase-Control StudiesPregnancy Trimester SecondInfant Small for Gestational AgeGestationSmall for gestational ageTerm BirthDiet; Epidemiology; Small for gestational age birthFemaleCase-Control StudiebusinessHumanFood Science
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Artificial Neural Network for Predicting Iodine Deficiency in the First Trimester of Pregnancy in Healthy Women

2020

Iodine deficiency in Spain is a persisting public health problem and the prescription of potassium iodide is recommended during pregnancy. The purpose of this study was to develop an Artificial Neural Network (ANN) to predict the risk factors of iodine deficiency during pregnancy, and compare the results obtained with a logistic regression model. Two hundred forty-four healthy pregnant women were included in a descriptive and prospective study in their first trimester of pregnancy. The women enrolled were asked specifically about their use of supplements containing potassium iodide, iron, folic acid and/or multivitamins during pregnancy. The consumption of iodine-rich foods was assessed thr…

Adultmedicine.medical_specialtyAdolescentIronNutritional Statuschemistry.chemical_elementLogistic regressionIodineGeneral Biochemistry Genetics and Molecular BiologyBody Mass IndexYoung Adult03 medical and health sciencesFolic Acid0302 clinical medicinePregnancySurveys and QuestionnairesmedicineHumansProspective Studies030212 general & internal medicineProspective cohort studyPregnancyObstetricsbusiness.industryFeeding BehaviorGeneral Medicinemedicine.diseaseIodine deficiencyPregnancy Trimester FirstIodised saltCross-Sectional StudiesROC CurvechemistryFoodSpain030220 oncology & carcinogenesisRegression AnalysisGestationFemaleNeural Networks ComputerbusinessBody mass indexIodineMaternal AgeThe Tohoku Journal of Experimental Medicine
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