Abstract:
BACKGROUND:Phenylketonuria (PKU) is caused by the inherited defect of the phenylalanine hydroxylase enzyme, which converts phenylalanine (Phe) into tyrosine (Tyr). Neonatal screening programs and early treatment have radically changed the natural history of PKU. Nevertheless, an increased risk of neurocognitive and psychiatric problems in adulthood remains a challenging aspect of the disease. In order to assess the vulnerability of complex skills to Phe, we explored: (a) the effect of a rapid increase in blood Phe levels on event-related potentials (ERP) in PKU subjects during their second decade of life; (b) the association (if existing) between psychophysiological and neurocognitive features. METHODS:Seventeen early-treated PKU subjects, aged 10-20, underwent ERP [mismatch negativity, auditory P300, contingent negative variation (CNV), and Intensity Dependence of Auditory Evoked Potentials] recording before and 2 h after an oral loading of Phe. Neurocognitive functioning, historical and concurrent biochemical values of blood Phe, Tyr, and Phe/Tyr ratio, were all included in the statistical analysis. RESULTS:Event-related potential components were normally detected in all the subjects. In subjects younger than 13 CNV amplitude, W2-CNV area, P3b latency, and reaction times in motor responses were negatively influenced by Phe-loading. Independently from the psychophysiological vulnerability, some neurocognitive skills were more impaired in younger patients. No correlation was found between biochemical alterations and neurocognitive and psychophysiological findings. CONCLUSION:The vulnerability of the emerging neurocognitive functions to Phe suggests a strict metabolic control in adolescents affected by PKU and a neurodevelopmental approach in the study of neurocognitive outcome in PKU.
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
Leuzzi V,Mannarelli D,Manti F,Pauletti C,Locuratolo N,Carducci C,Carducci C,Vanacore N,Fattapposta Fdoi
10.3389/fped.2014.00057subject
Has Abstractpub_date
2014-06-23 00:00:00pages
57issn
2296-2360journal_volume
2pub_type
杂志文章abstract::Animal models provide convenient and clinically relevant tools in the research on neurodegenerative diseases. Studies on developmental disorders extensively rely on the use of laboratory rodents. The present mini-review proposes an alternative translational model based on the use of fetal bovine brain tissue. The bovi...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2014.00074
更新日期:2014-07-10 00:00:00
abstract::This review presents up-to-date understanding of immunotherapy in the treatment of children with allergic asthma. The principal types of allergen immunotherapy (AIT) are subcutaneous immunotherapy (SCIT) and sublingual immunotherapy (SLIT). Both of them are indicated for patients with allergic rhinitis and/or asthma, ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00082
更新日期:2017-04-21 00:00:00
abstract::High-pressure processing (HPP) is a non-thermal technology that is being increasingly applied in food industries worldwide. It was proposed that this method could be used as an alternative to holder pasteurization (HoP; 62.5°C, 30 min) in milk banks but its impact on the immunologic, enzymatic and hormonal components ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00323
更新日期:2018-11-16 00:00:00
abstract::Purpose of Review: A significant number of pregnancies are complicated by a fetus with a life-limiting diagnosis. As diagnoses are made earlier in the pregnancy, families experience anticipatory grief and are faced with navigating goals of care for a baby that has yet to be born. With the support of the care team, fam...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00556
更新日期:2020-09-08 00:00:00
abstract:BACKGROUND:Studies suggest that children with congenital heart defects (CHD) are at risk for adverse intellectual functioning. However, factors related to lower intellectual functioning in this group are largely unknown. This study describes intellectual functioning in children with CHD in relation to severity of the h...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2016.00113
更新日期:2016-11-17 00:00:00
abstract::In recent decades, new research into the developmental defects and pathophysiological basis of congenital diaphragmatic hernia (CDH) has revealed opportunities for the development of innovative therapies. Importantly, the use of animal models to represent this anomaly in the laboratory has resulted in the discovery of...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2014.00036
更新日期:2014-04-29 00:00:00
abstract::Asthma is the most common chronic disease in children, imposing a consistent burden on health system. In recent years, prevalence of asthma symptoms became globally increased in children and adolescents, particularly in Low-Middle Income Countries (LMICs). Host (genetics, atopy) and environmental factors (microbial ex...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00186
更新日期:2018-06-22 00:00:00
abstract::Neonatal Encephalopathy (NE) describes neonates with disturbed neurological function in the first post-natal days of life. NE is an overall term that does not specify the etiology of the encephalopathy although it often involves hypoxia-ischaemia. In NE, although neurological dysfunction is part of the injury and is m...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00239
更新日期:2020-05-15 00:00:00
abstract::Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disease with a severe phenotype often presenting prenatally or in early childhood. With its obligate renal and hepatic involvement, ARPKD is one of the most important indications for liver and/or kidney transplantation in childhood. Marked pheno...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2017.00018
更新日期:2017-02-16 00:00:00
abstract::Introduction: Surfactant proteins (SP) have been shown to be inherent proteins of the human CNS and are altered during acute and chronic disturbances of CSF circulation. Aim of the study was to examine the changes of surfactant protein concentrations in CSF of preterm babies suffering from intraventricular hemorrhage....
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.572851
更新日期:2020-09-25 00:00:00
abstract::Background: To evaluate the effects of pressure levels on cerebral hemodynamics in premature infants receiving nasal continuous positive airway pressure (nCPAP) during the first 3 days of life. Methods: Forty-four preterm infants treated with nCPAP were divided into two groups: very preterm infants [gestational age 1 ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00487
更新日期:2020-08-21 00:00:00
abstract::Nuclear factor kappa-B subunit 2 (NF-κB2/p100/p52), encoded by NFKB2 (MIM: 164012) belongs to the NF-κB family of transcription factors that play a critical role in inflammation, immunity, cell proliferation, differentiation and survival. Heterozygous C-terminal mutations in NFKB2 have been associated with early-onset...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2019.00303
更新日期:2019-07-30 00:00:00
abstract::Background: Pulmonary alveolar proteinosis (PAP) is a rare diffuse lung disease. Reports of rare cases of PAP due to Pneumocystis jirovecii (P. jirovecii) exist in infants with immunodeficiency diseases, but no cases have been reported to date in pediatric patients with type 1 hyper-IgM syndrome (HIGM1). Case Presenta...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00264
更新日期:2020-06-11 00:00:00
abstract::Autosomal dominant polycystic kidney disease (ADPKD) affects 1 in 400 to 1,000 live births, making it the most common monogenic cause of renal failure. Although no definite cure is available yet, it is important to affect disease progression by influencing modifiable factors such as hypertension and proteinuria. Besid...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00272
更新日期:2017-12-20 00:00:00
abstract:OBJECTIVES/HYPOTHESIS:Congenital aural atresia is a rare condition affecting 1 in 10,000-20,000 children a year. Surgery is required to restore hearing to facilitate normal development. The objective of this study was to compare outcomes in hearing, complications, and quality of life of surgical reconstruction of the e...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2014.00005
更新日期:2014-01-22 00:00:00
abstract::The glomerular basement membrane (GBM) is a specialized structure with a significant role in maintaining the glomerular filtration barrier. This GBM is formed from the fusion of two basement membranes during development and its function in the filtration barrier is achieved by key extracellular matrix components inclu...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00011
更新日期:2018-01-29 00:00:00
abstract::Data regarding the safety of using therapeutic hypothermia (TH) with extracorporeal membrane oxygenation (ECMO) in neonates with both hypoxic ischemic encephalopathy (HIE), and respiratory failure are lacking. TH is not associated with an increased incidence of hemostatic complications, but hypothermia may impair coag...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2019.00095
更新日期:2019-03-22 00:00:00
abstract::Selective attention and efficacy are important components of scholastic performance in school children. While attempts are being made to introduce new methods to improve academic performance either as part of curricular or extracurricular activities in schools, the success rates are minimal. Hence, this study assessed...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2016.00062
更新日期:2016-06-15 00:00:00
abstract::Vascular tumors in pediatric patients are an important entity for the clinician to recognize and correctly diagnose. They may present at birth or develop at any point during infancy, childhood, or adolescence. Most are benign, but even benign lesions may have significant morbidity without proper intervention. Malignan...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.573023
更新日期:2020-10-22 00:00:00
abstract::Objectives: The incidence and the prevalence of eosinophilic esophagitis (EoE) are increasing, and healthcare utilization among children with EoE is high. This study provides novel insights into the health services and the treatments, including complementary medicines (CMs), used by carers to manage their children's E...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00147
更新日期:2020-04-17 00:00:00
abstract:BACKGROUND:Impaired sleep is associated with negative effects on quality of life and daytime functioning. Higher rates of sleep disturbance are reported in children with various developmental disorders. However, little is known about sleep in children with developmental coordination disorder (DCD), a condition characte...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2016.00081
更新日期:2016-08-04 00:00:00
abstract::Introduction: Emergency vascular access is rarely required during neonatal resuscitation. We aimed to analyze frequency of use, success, and complication rates of intraosseous (IO) vascular access in neonates at a single tertiary neonatal intensive care unit. Method: We performed a questionnaire-based survey among ped...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.571285
更新日期:2020-09-18 00:00:00
abstract::Background: Early and non-invasive diagnosis of common diseases is of great importance in the care of preterm infants. We hypothesized that volatile organic compounds (VOC) can be successfully measured in the neonatal incubator atmosphere. Methods: This is a feasibility study to investigate whether the discrimination ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00248
更新日期:2019-06-18 00:00:00
abstract::Introduction: Hemolytic-uremic syndrome (HUS) is a common cause for intrarenal acute kidney injury in childhood. More than 90% of HUS cases are associated with an infection by Shigatoxin-producing Escherichia coli (STEC) whereas the reminder comprises a heterogeneous group (here classified as Non-STEC-HUS). Renal impa...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00220
更新日期:2018-08-07 00:00:00
abstract::Puberty is a sensitive period of life characterized by the appearance of secondary sex characteristics which leads to a complete sexual maturation. It physiologically starts between the age of 8 and 13 years in girls and 9 and 14 years in boys. In the last two decades, several studies have showed that start of puberty...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00147
更新日期:2019-05-08 00:00:00
abstract::We report a novel homozygous JAK3 mutation in two female Brazilian SCID infants from two unrelated kindreds. Patient 1 was referred at 2 months of age due to a family history of immunodeficiency and the appearance of a facial rash. The infant was screened for TRECs (T-cell receptor excision circles) and KRECs (kappa-d...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2018.00230
更新日期:2018-08-20 00:00:00
abstract::We report on the results of a literature review regarding the indications and results of operations to increase bladder outlet resistance to achieve dryness in children with neurogenic sphincter incompetence (NSBD). The relative advantages and disadvantages of injection of bulking agents, periurethral slings, bladder ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00097
更新日期:2019-03-26 00:00:00
abstract::Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by neurodegeneration, combined immunodeficiency, and oculocutaneous telangiectasia. The hyper-IgM phenotype of A-T, correlating with a class-switch recombination defect, IgG and IgA deficiency, T helper and B cell lymphopenia, immune dysregul...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.570330
更新日期:2020-11-19 00:00:00
abstract::[This corrects the article DOI: 10.3389/fped.2018.00230.]. ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,已发布勘误
doi:10.3389/fped.2018.00358
更新日期:2018-11-23 00:00:00
abstract::Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a severe hepatorenal disorder of childhood. Early renal disease in ARPKD may require renal replacement therapy and is associated with failure to thrive resulting in a need for nasogastric tube feeding or gastrostomy. In ARPKD patients, the benefit ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00164
更新日期:2018-06-04 00:00:00