Search results for "DEFICIENCY"

showing 10 items of 1071 documents

Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening

2021

Abstract Background In infancy multiple acyl-CoA dehydrogenase deficiency (MADD) is commonly a severe inherited metabolic disease caused by genetic defects in electron transfer flavoprotein (ETF) or ETF ubiquinone oxidoreductase. Both enzymes require flavin adenine dinucleotide (FAD) as a cofactor. Riboflavin (vitamin B2) is a precursor in the synthesis of FAD. MADD can be detected by newborn screening (NBS) based on elevation of multiple acylcarnitines. Methods We present the results of two children whose NBS results and subsequent confirmatory testing resulted in a suspected diagnosis of MADD. In parallel in both children vitamin B12 deficiency was detected. Results Biochemical profiles n…

Newborn screeningMedicine (General)medicine.medical_specialtyQH301-705.5FlavoproteinRiboflavinMaternalCofactorchemistry.chemical_compoundR5-920EndocrinologyMultiple acyl-CoA dehydrogenase deficiencyInternal medicineGeneticsmedicineVitamin B12Biology (General)Multiple Acyl-CoA Dehydrogenase DeficiencyMother and child healthMolecular Biologychemistry.chemical_classificationFlavin adenine dinucleotideNewborn screeningbiologybusiness.industryfood and beveragesEnzymeEndocrinologyVitamin B12 deficiencychemistrybiology.proteinbusinessResearch PaperMolecular Genetics and Metabolism Reports
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Vitamin A-Wachstums- und Leberspeichertest bei Ratten, mit gleichzeitiger Prüfung eines wasser- und fettlöslichen Präparates

1960

1. Wir fuhrten den Vitamin A-Wachstumstest mit dem wasserloslichen Palmitinsaureester und dem fettloslichen Vitamin A-Acetat durch. Die Tagesdosis betrug 1,5 bzw. 2,5 IE/Tier. Jede der 4 Gruppen bestand aus 30 Mannchen. Das Ergebnis wurde nach dem t-Test vonStudent ausgewertet. 2. Unter den Bedingungen unseres Experimentes erhoht der wasserlosliche Palmitinsaureester das Wachstum gegenuber dem fettloslichen A-Acetat signifikant. Die Differenz ist bei der geringen Dosis von 1,5 IE am grosten. Der Einflus des Futterverzehrs auf das Wachstum wird diskutiert. 3. Beim Leberspeichertest arbeiteten wir wieder mit 4 Rattengruppen zu je 30 Tieren. Verwendet wurden die gleichen Praparate wie beim Wac…

NicotinamideVitamin Emedicine.medical_treatmentRetinolMedicine (miscellaneous)Riboflavinmedicine.diseasePyridoxineBiochemistryMolecular biologyVitamin A deficiencychemistry.chemical_compoundchemistryPantothenic acidmedicineFood Sciencemedicine.drugZeitschrift für Ernährungswissenschaft
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Immunohistochemical Expression of Vitamin D Receptor in Uterine Fibroids

2022

One of the many factors involved in the development of uterine fibroids is vitamin D deficiency. One aspect of this deficiency is decreased serum concentration of calcidiol-25(OH)D, a metabolite of D3 vitamin. The active form of vitamin D3, which arises after numerous enzymatic reactions, is calcitriol-1,25(OH)2D3; this compound is transported to various body tissues. Vitamin D possesses extra-genomic effects due to its influence on various signaling pathways, i.e., through activating tyrosine kinases and by genomic effects via binding to a specific nuclear receptor, vitamin D receptor (VDR). The vitamin D/VDR complex regulates the expression of genes and is involved in the pathogenesis of …

Nutrition and DieteticsLeiomyomauterine fibroids; vitamin D; vitamin D receptor (VDR)HumansReceptors CalcitriolFemaleVitamin DVitamin D DeficiencyImmunohistochemistryFood ScienceCholecalciferolNutrients
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The effects of an abrupt increase in taxes on candy and soda in Norway: an observational study of retail sales

2020

Abstract Background Fiscal policies are used to promote a healthier diet; however, there is still a call for real-world evaluations of taxes on unhealthy foods and beverages. We aimed to evaluate the effect of an abrupt increase, of respectively 80 and 40%, in the excising Norwegian taxes on candy and beverages on volume sales of candy and soda. We expected sales to fall. Methods We analyzed electronic point of sale data covering approximately 98% of volume sales of grocery stores in Norway. In two pre-registered models with weekly (log-)sales of taxed candy and soda from 3884 individual stores, we modeled the difference between the jump (discontinuity) in the trend around the time of the i…

Nutrition and DieteticsPoint of saleQuasi-experimentResearchlcsh:Public aspects of medicineSSB-taxMedicine (miscellaneous)lcsh:RA1-1270Physical Therapy Sports Therapy and RehabilitationSugary drink taxcomputer.software_genreVDP::Medisinske Fag: 700::Helsefag: 800::Ernæring: 811lcsh:Nutritional diseases. Deficiency diseasesAgricultural scienceRetail salesSin taxBusinessRetail saleslcsh:RC620-627computerPublic health taxInternational Journal of Behavioral Nutrition and Physical Activity
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La influencia de la nutrición en la industria alimentaria

2021

Nutrition and DieteticsRC620-627ChemistryNutrition. Foods and food supplynuevos alimentosTX341-641industria alimentarianutriciónNutritional diseases. Deficiency diseasesFood ScienceRevista Española de Nutrición Humana y Dietética
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Spanish Journal of Human Nutrition and Dietetics editors Conflicts of Interest declaration 2020-2022

2020

Se reconoce como Conflicto de Interés (COI), al conjunto de condiciones en las que el juicio profesional en relación a un interés primario, tiende a ser indebidamente influenciado por un interés secundario (como por ejemplo el beneficio económico)1 . Esta situación no es ajena a los procesos editoriales de revistas científicas, estando presente desde la producción de manuscritos por los/as autores/as, la revisión por pares y las gestiones de los/as miembros de los equipos editoriales.

Nutrition and DieteticsRC620-627Nutrition. Foods and food supplyConflicto de InteresesConflict of InterestPolitical scienceMedicina Preventiva y Salud PúblicaTX341-641EnfermeríaNutritional diseases. Deficiency diseasesFood Science
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Editorial decisions: highlighting the role of systematic reviews

2018

En 2014, el doctor Gerard Urrútia del Centro Cochrane Iberoamericano - Institut d'Investigació Biomèdica Sant Pau, escribió unas líneas editoriales para la Revista Española de Nutrición Humana y Dietética1 en las que ponía en valor la necesidad de "incrementar el rigor científico tanto en la producción de estudios científicos, que proporcionen las bases para una toma de decisiones bien fundamentada, como en su divulgación mediante publicaciones científicas de calidad" en el ámbito de la nutrición y la dietética. Asimismo vaticinaba que "cabría esperar, por una parte, un creciente interés en la producción de revisiones sistemáticas por parte de profesionales de nuestro medio, también entre d…

Nutrition and DieteticsRC620-627Nutrition. Foods and food supplyDecisiones editoriales03 medical and health sciences0302 clinical medicine030220 oncology & carcinogenesisMedicina Preventiva y Salud PúblicaTX341-641030212 general & internal medicinePsychologyNutritional diseases. Deficiency diseasesFood ScienceRevisiones sistemáticasRevista Española de Nutrición Humana y Dietética
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Balance del año 2020 y nuevos propósitos de 2021 para abordar los objetivos propuestos en el Plan Estratégico 2020-2022 de la Revista Española de Nut…

2021

Nutrition and DieteticsRC620-627Nutrition. Foods and food supplyTX341-641EnfermeríaNutritional diseases. Deficiency diseasesFood ScienceRevista Española de Nutrición Humana y Dietética
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Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

2021

Down syndrome (DS) is a genetic neurodevelopmental disorder. In individuals with DS, a multidisciplinary approach to care is required to prevent multiple medical complications. The aim of this study was to describe the rehabilitation, medical care, and educational and social support provided to school-aged French DS patients with varying neuropsychological profiles. A mixed study was conducted. Quantitative data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Qualitative data were collected by semi-structured face-to-face interviews and focus groups. Ninety-five DS subjects with a mean age of 10.9 years were included. Sixt…

Occupational therapyMalemedicine.medical_specialtyDown syndromeAdolescentWaiting Listsmedicine.medical_treatmentHealth Services Accessibility03 medical and health sciencesSocial supportYoung Adult0302 clinical medicineIntellectual disabilityGeneticsmedicineHumansChildGenetics (clinical)030304 developmental biologyPsychomotor learning0303 health sciencesRehabilitationbusiness.industryMultidisciplinary careNeurological RehabilitationSocial SupportGeneral Medicinemedicine.diseaseFocus group3. Good healthEducation of Intellectually DisabledPatient Care ManagementEducational supportFamily medicineChild PreschoolCohortIntellectual deficiencyFemaleInterdisciplinary CommunicationFranceDown Syndromebusiness030217 neurology & neurosurgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyEuropean journal of medical genetics
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Efficacy of rituximab as a single-agent therapy for the treatment of granulomatous and lymphocytic interstitial lung disease in patients with common …

2019

OncologyAdultMalemedicine.medical_specialtyMEDLINEYoung AdultText miningInternal medicinemedicineImmunology and AllergyHumansImmunologic FactorsSingle agentIn patientYoung adultbusiness.industryCommon variable immunodeficiencyInterstitial lung diseasemedicine.diseaseRespiratory Function TestsCommon Variable ImmunodeficiencyTreatment OutcomeRituximabFemalebusinessLung Diseases InterstitialRituximabmedicine.drugThe journal of allergy and clinical immunology. In practice
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