Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 92
Filtrar
Más filtros

Bases de datos
País/Región como asunto
Tipo del documento
País de afiliación
Intervalo de año de publicación
1.
Am J Perinatol ; 38(8): 828-833, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-31891954

RESUMEN

OBJECTIVE: Cystic fibrosis (CF) is a multisystemic inherited disease. The aim of this study was to determine free carnitine (FC) and acylcarnitine concentrations in CF newborns with various mutations of the CFTR gene perinatally. STUDY DESIGN: FC/acylcarnitines were determined in dried blood spots via liquid chromatography-tandem mass spectrometry (LC-MS/MS) on the third day of life of full-term normal (n = 50) and CF (n = 28) newborns. For infants with elevated immunoreactive trypsinogen values, FC/acylcarnitines were quantified again 48 hours later, followed by mutational analysis of CFTR gene via Sanger sequencing. RESULTS: Initial FC and sums of acylcarnitine concentrations were statistically significantly lower in CF patients than in controls and even lower 48 hours later. The mutations F508del and 621 + 1G > T were predominantly identified among CF patients. CONCLUSION: Low FC and acylcarnitine concentrations were measured perinatally in CF patients, for all CFTR mutations detected. Carnitine supplementation of breastfeeding mothers could be beneficial.


Asunto(s)
Carnitina/análogos & derivados , Carnitina/sangre , Fibrosis Quística/sangre , Biomarcadores , Carnitina/administración & dosificación , Fibrosis Quística/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Análisis Mutacional de ADN , Alimentos Fortificados , Humanos , Recién Nacido , Leche Humana , Mutación , Tamizaje Neonatal
2.
Nutr Neurosci ; 23(8): 628-639, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-30359206

RESUMEN

Phenylalanine hydroxylase (PAH) deficiency, commonly named phenylketonuria (PKU) is a disorder of phenylalanine (Phe) metabolism inherited with an autosomal recessive trait. It is characterized by high blood and cerebral Phe levels, resulting in intellectual disabilities, seizures, etc. Early diagnosis and treatment of the patients prevent major neuro-cognitive deficits. Treatment consists of a lifelong restriction of Phe intake, combined with the supplementation of special medical foods, such as Amino Acid medical food (AA-mf), enriched in tyrosine (Tyr) and other amino acids and nutrients to avoid nutritional deficits. Developmental and neurocognitive outcomes for patients, however, remain suboptimal, especially when adherence to the demanding diet is poor. Additions to treatment include new, more palatable foods, based on Glycomacropeptide that contains limited amounts of Phe, the administration of large neutral amino acids to prevent phenylalanine entry into the brain and tetrahydrobiopterin cofactor capable of increasing residual PAH activity. Moreover, further efforts are underway to develop an oral therapy containing phenylalanine ammonia-lyase. Nutritional support of PKU future mothers (maternal PKU) is also discussed. This review aims to summarize the current literature on new PKU treatment strategies.


Asunto(s)
Fenilcetonurias/dietoterapia , Aminoácidos/administración & dosificación , Animales , Biopterinas/administración & dosificación , Biopterinas/análogos & derivados , Caseínas/administración & dosificación , Dieta , Dieta con Restricción de Proteínas , Dietética , Humanos , Fragmentos de Péptidos/administración & dosificación
3.
Scand J Clin Lab Invest ; 80(7): 571-579, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32924636

RESUMEN

Essential, non-essential and conditionally essential amino acid blood concentrations play a critical role in newborns. We aimed to quantitate most of these amino acids in the blood of full-term breastfed infants, perinatally and correlate the obtained values with their birth weight. Breastfed full-term infants (n = 12,000; 6000 males, 6000 females) with birth weight 2000-4000 g were divided into 4 equal groups: Group A, 2000-2500 g; B, 2500-3000 g; C, 3000-3500 g and D, 3500-4000 g. Blood samples as Dried Blood Spots (DBS) were collected on the 3rd day of life and analyzed via liquid chromatography-tandem mass spectrometry (LC-MS/MS) protocol. Blood concentrations of the amino acids, Phenylalanine, Leucine, Glutamine, Ornithine, Alanine, Tyrosine and Glycine in full-term breastfed newborns, were found to be related to their birth weight, perinatally. On the contrary, no relationship between birth weight and blood concentrations of the amino acids Valine, Methionine, Citrulline and Arginine was found. Due to the number of the samples, data from this study could be applied as neonatal screening reference values for full-term breastfed newborns in relation to their birth weight.


Asunto(s)
Aminoácidos Esenciales/sangre , Peso al Nacer , Lactancia Materna , Femenino , Humanos , Recién Nacido , Masculino
4.
Clin Gerontol ; 43(2): 155-180, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31752626

RESUMEN

Objectives: Recently, new criteria for sensitive and specific clinical diagnosis of progressive supranuclear palsy (PSP) have been addressed while distinct clinical phenotypes of the disorder have been increasingly described in the literature. This study aimed to describe past and present aspects of the disease as well as to highlight the cognitive and behavioral profile of PSP patients in relation to the underlying pathology, genetics and treatment procedures.Methods: A Medline and Scopus search was performed to identify articles published on this topic. Articles published solely in English were considered.Results: The most common clinical characteristics of PSP included early postural instability and falls, vertical supranuclear gaze palsy, parkinsonism with poor response to levodopa and pseudobulbar palsy. Frontal dysfunction and verbal fluency deficits were the most distinct cognitive impairments in PSP while memory, visuospatial and social cognition could also be affected. Apathy and impulsivity were also present in PSP patients and had significant impact on relatives and caregivers.Conclusions: PSP is a neurodegenerative disorder with prominent tau neuropathology. Movement, motivation and communication impairments in patients with PSP may limit participation in everyday living activities. Comprehensive neuropsychological assessments are of significant importance for PSP cognitive evaluation. Pharmacologic and non-pharmacologic approaches could be applied in order to relieve patients and improve quality of life.Clinical Implications: Executive dysfunction is the most notable cognitive impairment and dominates the neuropsychological profile of patients with PSP.


Asunto(s)
Calidad de Vida , Parálisis Supranuclear Progresiva/fisiopatología , Actividades Cotidianas , Disfunción Cognitiva/etiología , Disfunción Cognitiva/genética , Humanos , Pruebas Neuropsicológicas , Fenotipo , Parálisis Supranuclear Progresiva/complicaciones , Parálisis Supranuclear Progresiva/diagnóstico , Parálisis Supranuclear Progresiva/terapia
5.
Scand J Clin Lab Invest ; 77(6): 423-427, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28644047

RESUMEN

Classical galactosaemia is an inborn error of metabolism due to the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). The aim of the study was to identify the underlying mutations in Greek patients with GALT deficiency and evaluate their psychomotor and speech development. Patients with GALT deficiency (n = 17) were picked up through neonatal screening. Mutational analysis was conducted via Sanger sequencing, while in silico analysis was used in the cases of novel missense mutations. Psychomotor speech development tests were utilized for the clinical evaluation of the patients. Eleven different mutations in the GALT gene were detected in the patient cohort, including two novel ones. The most frequent mutation was p.Q188R (c.563 A > G). As for the novel mutations, p.M298I (c.894 G > A) was identified in four out of 32 independent alleles, while p.P115S (c.343 C > T) was identified once. Psychomotor evaluation revealed that most of the patients were found in the borderline area (Peabody test), while only two had speech delay problems. The WISK test revealed three patients at borderline limits and two were at lower than normal limits. The mutational spectrum of the GALT gene in Greek patients is presented for the first time. The mutation p.Q188R is the most frequent among Greek patients. Two novel mutations were identified and their potential pathogenicity was estimated. Regarding the phenotypic characteristics, psychomotor disturbances and speech delay were mainly observed among GALT-deficient patients.


Asunto(s)
Galactosemias/enzimología , Galactosemias/genética , Galactosiltransferasas/genética , Análisis Mutacional de ADN , Femenino , Grecia , Humanos , Recién Nacido , Masculino
6.
Scand J Clin Lab Invest ; 75(5): 374-81, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25874479

RESUMEN

A 23-mutation panel for CFTR carrier screening is recommended to women of reproductive age by the American College of Obstetricians and Gynecologists. In the present study the optimized efficiency regarding the carrier rate of Next-Generation sequencing (NGS) technology is compared to the one of limited mutation detection panels. A total of 824 consequent cases were subjected to the commercial Cystic Fibrosis Genotyping Assay. Some 188 negative samples randomly selected from the initial group of probands were further subjected to an extended mutation panel characterized by 92% detection rate, as well as to massive parallel sequencing. Twenty-two probands subjected to the commercial assay proved to carry one mutation included in the ACOG panel (carrier rate 0.0267). The latter panels revealed the presence of mutations not included in the ACOG panel in four probands, resulting to an increase of carrier rate of 0.0106 in the case of in-house panel and an increase of rate of 0.0213 if NGS was used. The above data seem to support the implementation of NGS in the routine CFTR carrier screening.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/diagnóstico , Fibrosis Quística/genética , Pruebas Genéticas/métodos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Heterocigoto , Humanos , Mutación/genética , Valores de Referencia , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
7.
Scand J Clin Lab Invest ; 74(3): 259-63, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24460025

RESUMEN

Glucose-6-Phosphate Dehydrogenase (G6PD) gene is located at the X-chromosome at Xq28 and the disease is recessively inherited predominantly in males. More than 400 variants have been proposed based on clinical and enzymatic studies. The aim of the current study was to identify C563T mutation in G6PD-deficient newborns and to correlate the enzyme residual activity with the presence of the mutation. Some 1189 full-term neonates aged 3-5 days old were tested for G6PD activity in dried blood spots from Guthrie cards using a commercial kit. DNA extraction from Guthrie cards and mutation identification among the deficient samples were performed with current techniques. A total of 92 (7.7%) newborns were G6PD-deficient. In 46 (50%), the mutation C563T was identified. The residual activity in C563T hemizygote males (n = 28) was statistically significantly lower (1.23 ± 0.93 U/g Hb) than that in non-C563T G6PD-deficient males (n = 25) (4.01 ± 1.20 U/g Hb, p < 0.0001) and in controls (13.6 ± 2.9 U/g Hb, p < 0.0001). In C563T heterozygote females, the estimated enzyme activity was lower than that determined in non-C563T females. Male C563T hemizygotes suffer from G6PD deficiency and severe neonatal jaundice. G6PD activity showed statistically significant correlation with total bilirubin blood levels.


Asunto(s)
Deficiencia de Glucosafosfato Deshidrogenasa/genética , Glucosafosfato Deshidrogenasa , Ictericia Neonatal/genética , Bilirrubina/sangre , Pruebas con Sangre Seca , Femenino , Glucosafosfato Deshidrogenasa/sangre , Glucosafosfato Deshidrogenasa/genética , Deficiencia de Glucosafosfato Deshidrogenasa/sangre , Deficiencia de Glucosafosfato Deshidrogenasa/diagnóstico , Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Grecia/epidemiología , Hemicigoto , Heterocigoto , Humanos , Recién Nacido , Ictericia Neonatal/sangre , Ictericia Neonatal/diagnóstico , Ictericia Neonatal/epidemiología , Masculino , Tamizaje Neonatal , Mutación Puntual , Factores Sexuales
8.
Metab Brain Dis ; 28(4): 541-50, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23657560

RESUMEN

Hyperphenylalaninemia (HPA) leads to increased oxidative stress in patients with phenylketonuria (PKU) and in animal models of PKU. Early diagnosis and immediate adherence to a phenylalanine-restricted diet prevents HPA and, consequently, severe brain damage. However, treated adolescent and adult PKU patients have difficulties complying with the diet, leading to an oscillation of phenylalanine levels and associated oxidative stress. The brain is especially susceptible to reactive species, and oxidative stress might add to the impaired cognitive function found in these patients. The restricted PKU diet has a very limited nutrient content from natural foods and almost no animal protein, which reduces the intake of important compounds. These specific compounds can act as scavengers of reactive species and can be co-factors of antioxidant enzymes. Supplementation with nutrients, vitamins, and tetrahydropterin has given quite promising results in patients and animal models. Antioxidant supplementation has been studied in HPA, however there is no consensus about its always beneficial effects. In this way, regular exercise could be a beneficial addition on antioxidant status in PKU patients. A deeper understanding of PKU molecular biochemistry, and genetics, as well as the need for improved targeted treatment options, could lead to the development of new therapeutic strategies.


Asunto(s)
Antioxidantes/uso terapéutico , Encéfalo/efectos de los fármacos , Suplementos Dietéticos , Estrés Oxidativo/efectos de los fármacos , Fenilcetonurias/tratamiento farmacológico , Antioxidantes/farmacología , Encéfalo/metabolismo , Dieta , Humanos , Fenilcetonurias/metabolismo
9.
Pharmaceuticals (Basel) ; 16(8)2023 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-37631041

RESUMEN

Dried blood spot (DBS) microsampling is extensively employed in newborn screening (NBS) and neonatal studies. However, the impact of variable neonatal hematocrit (Ht) values on the results can be a source of analytical error, and the use of fixed Ht for calibration (Htcal) is not representative of all neonatal subpopulations. A computational approach based on neonatal demographics was developed and implemented in R® language to propose a strategy using correction factors to address the Ht effect in neonatal DBS partial-spot assays. A rational "tolerance level" was proposed for the Ht effect contribution to the total analytical error and a safe Ht range for neonatal samples, where the correction of concentrations can be omitted. Furthermore, an "alert zone" for a false positive or negative result in NBS was proposed, where the Ht effect has to be considered. Results point toward the use of Htcal values closely representative of populations under analysis and an acceptable level of percentage relative error can be attributed to the Ht effect, diminishing the probability of correction. Overall, the impact of the Ht effect on neonatal studies is important and future work may further investigate this parameter, correlated to other clinical variables potentially affecting results.

10.
Appl Neuropsychol Adult ; : 1-15, 2022 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-35227132

RESUMEN

Amino acid neurotransmitters, including glutamate, phenylalanine, tyrosine, alanine, and glycine, underlie the majority of the excitatory and inhibitory neurotransmission in the nervous system, and acute exercise has been shown to modulate their concentrations. We aimed to determine whether any correlation exists between the above-mentioned amino acid blood concentrations and the neuropsychological performance after an acute exercise intervention. Sixty basketball players were randomly assigned to one of two experimental conditions: exercise or inactive resting. All participants underwent a comprehensive neuropsychological assessment and blood samples were taken on a Guthrie card before and after the end of the experimental conditions. Amino acid blood concentrations were significantly elevated and cognitive performance significantly improved post-exercise on specific neuropsychological assessments. Significant intervention × group interaction effects were apparent for Trail Making Test part-B [F(1,58) = 20.46, p < .0001, η2 = .26] and Digit Span Backwards [F(1,58) = 15.47, p < .0001, η2 = .21] neuropsychological assessments. Additionally, regression analysis indicated that tyrosine accounted for 38.0% of the variance in the Trail Making Test part-A test. These results suggest that elevated blood concentrations of neurotransmission-related amino acids are associated with improved neuropsychological performance after a single bout of high-intensity exercise.

11.
J Pediatr Endocrinol Metab ; 34(8): 1023-1030, 2021 Aug 26.
Artículo en Inglés | MEDLINE | ID: mdl-34167180

RESUMEN

OBJECTIVES: Medium-chain (MCA) and long-chain acylcarnitine (LCA) blood concentrations play a significant role in the fatty acid (FA) oxidation process, especially during the first days of life. Identification of their abnormal concentrations, via expanded newborn screening, can lead to the diagnosis of FA oxidation disorders. This study aimed to demonstrate MCA and LCA concentrations in Dried Blood Spots (DBS) of full-term breastfed infants, in relation to their birth weight (BW) perinatally. METHODS: Breastfed full-term infants (n = 12,000, 6,000 males, 6,000 females) with BW 2,000-3,999 g were divided into four equal groups: Group A, 2,000-2,499 g, B 2,500-2,999 g, C 3,000-3,499 g, and D 3,500-3,999 g. Samples were collected as DBS and acylcarnitines were determined via a liquid chromatography tandem mass spectrometry method. RESULTS: MCA and LCA blood concentrations were determined significantly lower in group A (low birth weight infants) in both sexes. Infants with BW > 3,500 g (group D), were characterized by lower levels of C10, C10:1, C14, C14:1 acylcarnitines and higher levels of C16 and C18:1 acylcarnitines, as compared to the other groups of this study. CONCLUSIONS: Concentration patterns in full-term breastfed newborns in relation to sex and mainly BW found in this study could be very helpful for neonatologists, especially for newborns of group A.


Asunto(s)
Biomarcadores/sangre , Lactancia Materna/estadística & datos numéricos , Carnitina/análogos & derivados , Errores Innatos del Metabolismo Lipídico/diagnóstico , Tamizaje Neonatal/métodos , Peso al Nacer , Carnitina/sangre , Carnitina/química , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Errores Innatos del Metabolismo Lipídico/sangre , Masculino , Pronóstico
12.
Scand J Clin Lab Invest ; 70(8): 568-74, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20964587

RESUMEN

AIM: To investigate erythrocyte membrane AChE, Na(+), K(+)-ATPase and Mg(2+)-ATPase activities in mothers and their full-term or premature newborns in relation to the mode of delivery. METHODS: Blood was obtained from mothers pre- and post-delivery and the umbilical cord (CB) of their full-term newborns: Group A1 (n = 16) born with vaginal delivery (VD), Group B1 (n = 14) full-terms with scheduled cesarean section (CS), Group A2 (n = 12) prematures with VD, Group B2 (n = 14) prematures with CS. Total Antioxidant Status (TAS) and common laboratory tests were measured with routine methods, and the membrane enzyme activities spectrophotometrically. RESULTS: TAS was reduced in mothers post VD and in the CB whereas remained unaltered in CS mothers and their newborns. AChE and Na(+), K(+)-ATPase were increased in mothers post VD. AChE was lower in the CB of prematures than that of full-terms independently of the mode of delivery. Na(+), K(+)-ATPase activity was increased in the groups of mothers post VD and decreased in prematures. The enzyme was higher in prematures with CS than that with VD. Mg(2+)-ATPase activity was unchanged. CONCLUSION: The increased maternal AChE and Na(+), K(+)-ATPase activities may be due to the low TAS determined post VD, whereas their decreased activities in prematures to their immaturity.


Asunto(s)
Acetilcolinesterasa/metabolismo , ATPasa de Ca(2+) y Mg(2+)/metabolismo , Parto Obstétrico , Membrana Eritrocítica/enzimología , Recién Nacido/sangre , Nacimiento Prematuro/enzimología , ATPasa Intercambiadora de Sodio-Potasio/metabolismo , Adulto , Antioxidantes , Femenino , Sangre Fetal/metabolismo , Humanos , Madres , Embarazo , Nacimiento Prematuro/sangre , Nacimiento a Término , Adulto Joven
13.
Scand J Clin Lab Invest ; 70(7): 465-9, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20658899

RESUMEN

BACKGROUND/AIMS: To investigate the effect of the mode of delivery on maternal-neonatal Mg and Zn levels. MATERIAL AND METHODS: Two groups of pregnant women participated in the study: Group A (n = 16) with normal labor and vaginal delivery and group B (n = 14) with scheduled cesarean section (CS). Blood was obtained at the beginning of the labor, immediately after delivery and from the umbilical cord (CB). Serum Mg and Zn were measured with atomic absorption spectroscopy and total antioxidant status (TAS) levels with a chemical autoanalyser. RESULTS: Mg, Zn and TAS levels were similar pre-delivery in both groups. TAS levels, Mg (0.81 ± 0.09 vs 0.69 ± 0.03 mmol/L, p < 0.001) and Zn levels (9.34 ± 0.37 vs 5.74 ± 0.24 µmol/L, p < 0.001) were significantly decreased after vaginal delivery. These biochemical parameters were measured practically unaltered at the same times of study in group B. The mineral levels did not differ in the CB of both groups. CONCLUSIONS: The decreased maternal Mg, Zn and TAS levels post vaginal delivery may be due to the participation of skeletal and uterus muscles and the similar levels of the minerals in the CB of neonates to the placental protection.


Asunto(s)
Parto Obstétrico , Recién Nacido/sangre , Magnesio/sangre , Vagina/fisiología , Zinc/sangre , Adulto , Femenino , Sangre Fetal/metabolismo , Humanos , Embarazo
14.
Metab Brain Dis ; 25(3): 339-54, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-20886273

RESUMEN

Thyroid hormones (THs) exert a broad spectrum of effects on the central nervous system (CNS). Hypothyroidism, especially during CNS development, can lead to structural and functional changes (mostly resulting in mental retardation). The hippocampus is considered as one of the most important CNS structures, while the investigation and understanding of its direct and indirect interactions with the THs could provide crucial information on the neurobiological basis of the (frequently-faced in clinical practice) hypothyroidism-induced mental retardation and neurobehavioral dysfunction. THs-deficiency during the fetal and/or the neonatal period produces deleterious effects for neural growth and development (such as reduced synaptic connectivity, delayed myelination, disturbed neuronal migration, deranged axonal projections, decreased synaptogenesis and alterations in neurotransmitters' levels). On the other hand, the adult-onset thyroid dysfunction is usually associated with neurological and behavioural abnormalities. In both cases, genomic and proteomic changes seem to occur. The aim of this review is to provide an up-to-date synopsis of the available knowledge regarding the aforementioned alterations that take place in the hippocampus due to fetal-, neonatal- or adult-onset hypothyroidism.


Asunto(s)
Encefalopatías Metabólicas/patología , Encefalopatías Metabólicas/fisiopatología , Hipocampo/patología , Hipocampo/fisiopatología , Hipotiroidismo/complicaciones , Animales , Encefalopatías Metabólicas/etiología , Discapacidades del Desarrollo/metabolismo , Discapacidades del Desarrollo/patología , Discapacidades del Desarrollo/fisiopatología , Hipocampo/metabolismo , Humanos , Hipotiroidismo/patología , Hipotiroidismo/fisiopatología
15.
Acta Paediatr ; 99(10): 1565-70, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20491710

RESUMEN

OBJECTIVES: To investigate the effect of diet on total antioxidative status (TAS), transferrin, ferritin and ceruloplasmin serum levels in phenylketonuric (PKU) children. PATIENTS AND METHODS: Seventeen poorly controlled PKU children underwent clinical and laboratory examinations before, 'off diet', and 60 days after adhering to their special diet 'on diet', whereas controls (N = 24) were examined once. Blood chemistry was performed with the appropriate methodologies. RESULTS: Phenylalanine levels differed significantly among the examined groups. Lipids and lipoproteins were higher in 'off diet' than in 'on diet' group, except of high density lipoprotein and apolipoprotein AI that remained unaffected. Total antioxidative status (386 ± 30 vs 204 ± 23 µmol/L, p < 0.001), ferritin (48.2 ± 2.3 vs 33.0 ± 2.8 µg/L, p < 0.001) and ceruloplasmin (40.02 ± 2.5 vs 25.5 ± 2.8 mg/dL, p < 0.001) levels were significantly higher in 'on diet' patients' group compared to 'off diet' one. The low lipoprotein and the high TAS and ferritin levels in patients with PKU 'on diet' may be related to the vegetarian diet and the rich in iron formula supplementation. CONCLUSIONS: The low ferritin levels found in 'off diet' patients with PKU may be attributed to a decreased liver production of ceruloplasmin, which evaluation may be a useful tool for the follow-up of patients with PKU.


Asunto(s)
Antioxidantes/análisis , Ferritinas/sangre , Transferrina/análisis , Recuento de Células Sanguíneas , Ceruloplasmina/análisis , Cobre/sangre , Dieta , Índices de Eritrocitos , Humanos , Lípidos/sangre , Lipoproteínas/sangre , Estrés Oxidativo/fisiología , Fenilalanina/sangre , Fenilcetonurias/sangre
16.
Pediatr Neonatol ; 61(6): 620-628, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32771364

RESUMEN

BACKGROUND: Free carnitine (C0) and short chain acylcarnitine (SCA) blood concentrations play a significant role in fatty acid oxidation process during the first days of life. The aim of this study was to demonstrate C0 and SCA concentrations in Dried Blood Spots (DBS) of full term breastfed infants in relation to their birth weight (BW) perinatally. METHODS: Breastfed full term infants (n = 12,000, 6000 males, 6000 females) with BW 2000-4000 g were divided into 4 equal groups: Group A, 2000-2500 g, B 2500-3000 g, C 3000-3500 g and D 3500-4000 g. Blood samples in the form of DBS were collected on the 3rd day of life and analyzed via a liquid chromatography tandem mass spectrometry (LC-MS/MS) protocol. RESULTS: BW-related C0 and SCAs were found as follows: C0 was determined to be statistically significantly higher in group A (BW 2000-2500 g) in both males and females. Lower acetylcarnitine (C2) and hydroxybutyrylcarnitine (C4OH) blood concentrations were detected in group A of both sexes, whereas butyrylcarnitine (C4) concentrations were found to be lower in the same group of males only. Furthermore, high concentrations of C2 and C4OH were shown in group D (BW 3500-4000 g) in both sexes. SCA sum of means ± SD values in males and females of group A were statistically significantly lower as compared to other study groups. CONCLUSION: Due to the number of the samples, data from this study could be applied as neonatal screening reference values for full term breastfed newborns in relation to their birth weight.


Asunto(s)
Peso al Nacer , Lactancia Materna , Carnitina/análogos & derivados , Carnitina/sangre , Biomarcadores/sangre , Cromatografía Liquida/métodos , Ácidos Grasos/metabolismo , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Tamizaje Neonatal/métodos , Valores de Referencia , Espectrometría de Masas en Tándem/métodos
17.
J Pediatr Endocrinol Metab ; 33(3): 367-373, 2020 Mar 26.
Artículo en Inglés | MEDLINE | ID: mdl-32069244

RESUMEN

Background The amino acids glutamine plus glutamate, phenylalanine and tyrosine are implicated in neurotransmission. We aimed to evaluate these amino acid blood concentrations in full-term breastfed infants with different birth weight (BW) perinatally. Methods Breastfed full-term infants (n = 6000, males 3000, females 3000) BW 2000-4000 g were divided into four equal groups. Both males and females Groups A, 2000-2500 g, B 2500-3000 g, C 3000-3500 g, D 3500-4000 g. Blood samples on Guthrie cards, were taken on the 3rd day of life and quantified via a liquid chromatography tandem mass spectrometry (LC-MS/MS) method. Results Glutamine plus glutamate mean values were found to be statistically significantly different between males vs. females in all the studied groups. The highest values were determined in both males and females in group D. Statistically significantly higher values of phenylalanine appeared in group D vs. other groups. Tyrosine mean values were calculated to be statistically significantly different in both sexes in group A compared to other groups. Conclusions Differences of glutamine plus glutamate, phenylalanine and tyrosine levels among full-term newborns with different BW are presented for the first time in the literature. Newborns with BW 3000-4000 g are benefited by having higher concentrations of the mentioned neurotransmission related amino acids. Neonatal screening reference values for these amino acids in relation to BW could be established, not only for preterm and low BW infants but also for full-term newborns with BW >3000 g.


Asunto(s)
Peso al Nacer , Lactancia Materna , Ácido Glutámico/sangre , Glutamina/sangre , Neurotransmisores/sangre , Fenilalanina/sangre , Tirosina/sangre , Aminoácidos/sangre , Femenino , Humanos , Recién Nacido , Masculino , Valores de Referencia , Caracteres Sexuales
18.
J Matern Fetal Neonatal Med ; 33(2): 334-340, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29909700

RESUMEN

Background: Pregnancy is characterized by a complexity of metabolic processes that may impact fetal development and infant health outcome. Normal fetal growth and development depend on a continuous supply of nutrients via the placenta. The placenta transports, utilizes, produces, and interconverts amino acids (AAs).Findings: Concentrations of both nonessential and essential AAs in maternal plasma decrease in early pregnancy and persist at low concentrations throughout. The decline is greatest for the glucogenic AAs and AAs of the urea cycle. Additionally, there is a large placental utilization of the branched-chain AAs, some of which are transaminated to alpha ketoacids and contribute to placental ammonia production. Both nonessential and essential AAs regulate key metabolic pathways to improve health, survival, growth, development, lactation, and reproduction of organisms. Some of the nonessential AAs (e.g. glutamine, glutamate, and arginine) play also important roles in regulating gene expression, cell signaling, antioxidant responses, immunity, and neurological function.Conclusions: Nutritional support during pregnancy is of great interest focusing not only to common pregnancies but also to those with low socioeconomic status, vegan-vegetarian groups, and pregnant women with metabolic disorders, the most known maternal phenylketonuria. The latter is of great interest because phenylalanine must be within the recommended range throughout pregnancy in addition to other nutrients such as vitamin B12, folate, etc. Loss of the adherence to this specific diet results in congenital malformations of the fetus. In addition to the routine laboratory test, quantitation of plasma AAs may be necessary throughout pregnancy.


Asunto(s)
Aminoácidos/sangre , Apoyo Nutricional/métodos , Femenino , Desarrollo Fetal , Humanos , Fenómenos Fisiologicos Nutricionales Maternos/fisiología , Placenta/metabolismo , Embarazo
19.
J Pediatr Endocrinol Metab ; 33(1): 5-20, 2020 Jan 28.
Artículo en Inglés | MEDLINE | ID: mdl-31804959

RESUMEN

The establishment of expanded newborn screening (NBS) not only results in the early diagnosis and treatment of neonates with inborn errors of intermediary metabolism disorders (IEMDs) but also helps the affected females to reach the reproductive age under medical and dietetic support, as well as to give birth to normal infants. In this review, we aimed to focus on laboratory investigation tests, dietetic management and medical support for most known IEMD pregnant and lactating women, such as those suffering from aminoacidopathies, carbohydrate metabolic diseases and fatty acid (FAO) oxidation disorders.


Asunto(s)
Lactancia Materna/métodos , Promoción de la Salud , Lactancia , Errores Innatos del Metabolismo/terapia , Estado Nutricional , Femenino , Humanos , Recién Nacido , Errores Innatos del Metabolismo/diagnóstico , Tamizaje Neonatal , Embarazo
20.
Clin Nutr ; 39(8): 2337-2346, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-31732292

RESUMEN

BACKGROUND & AIMS: Pregnancy is characterized by a complexity of metabolic processes that may impact fetal health and development. Women's nutrition during pregnancy and lactation is considered important for both mother and infant. This review aims to investigate the significant role of fatty acids and carnitine during pregnancy and lactation in specific groups of pregnant and lactating women. METHODS: The literature was reviewed using relevant data bases (e.g. Pubmed, Scopus, Science Direct) and relevant articles were selected to provide information and data for the text and associated Tables. RESULTS: Dynamic features especially of plasma carnitine profile during pregnancy and lactation, indicate an extraordinarily active participation of carnitine in the intermediary metabolism both in pregnant woman and in neonate and may also have implications for health and disease later in life. Maternal diets rich in trans and saturated fatty acids can lead to impairments in the metabolism and development of the offspring, whereas the consumption of long chain-polyunsaturated fatty acids during pregnancy plays a beneficial physiologic and metabolic role in the health of offspring. CONCLUSIONS: Pregnant women who are underweight, overweight or obese, with gestational diabetes mellitus or diabetes mellitus and those who choose vegan/vegetarian diets or are coming from socially disadvantaged areas, should be nutritionally supported to achieve a higher quality diet during pregnancy and/or lactation.


Asunto(s)
Carnitina/sangre , Grasas de la Dieta/administración & dosificación , Lactancia/metabolismo , Fenómenos Fisiologicos Nutricionales Maternos , Terapia Nutricional/métodos , Adulto , Suplementos Dietéticos , Ácidos Grasos/metabolismo , Femenino , Humanos , Embarazo , Atención Prenatal/métodos
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA