Abstract:
:Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype. In pediatric patients, the term polycystic kidney disease (PKD) commonly refers to two specific hereditary diseases, autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD). Remarkable progress has been made in understanding the complex molecular and cellular mechanisms of renal cyst formation in ARPKD and ADPKD. One of the most important discoveries is that both the genes and proteins products of ARPKD and ADPKD interact in a complex network of genetic and functional interactions. These interactions and the shared phenotypic abnormalities of ARPKD and ADPKD, the "cystic phenotypes" suggest that many of the therapies developed and tested for ADPKD may be effective in ARPKD as well. Successful therapeutic interventions for childhood PKD will, therefore, be guided by knowledge of these molecular interactions, as well as a number of clinical parameters, such as the stage of the disease and the rate of disease progression.
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
Sweeney WE Jr,Avner EDdoi
10.3389/fped.2017.00077subject
Has Abstractpub_date
2017-04-19 00:00:00pages
77issn
2296-2360journal_volume
5pub_type
杂志文章,评审abstract::Introduction: Hospital response to the COVID-19 outbreak has involved the cancellation of elective, deferrable surgeries throughout Europe in order to ensure capacity for emergent surgery and a selection of elective but non-deferrable surgeries. The purpose of this document is to propose technical strategies to assist...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00259
更新日期:2020-05-07 00:00:00
abstract::Objective: To examine the understanding of the concept peak oxygen uptake (peak VO2) among children and adolescents at different ages from a developmental perspective. Methods: A total of 549 children and adolescents aged 8 to 16 were recruited and instructed to fill in a 20-item Peak VO2Understanding Inventory develo...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.599571
更新日期:2021-01-14 00:00:00
abstract::Background: Timely diagnosis of child physical abuse is of paramount importance. The added value of bone scintigraphy (BS) after a negative radiological skeletal survey (RSS) in children with suspected physical abuse has never been evaluated. Objective: The objective of this study was to assess the extent to which BS ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00498
更新日期:2020-09-25 00:00:00
abstract::Introduction: Allostatic load (AL) refers to the physiological response associated with the burden of chronic stress. Excessive weight is an important source of physiological stress that promotes a detrimental chronic low-inflammation state. In order to define a correlation between cumulative biological dysregulation ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00335
更新日期:2019-08-07 00:00:00
abstract::Background: Clinical practice guidelines recommended that hypertension in children and adolescents should be defined based on elevated blood pressure (BP) on at least three separate occasions. Therefore, in the present study, we aimed to estimate the prevalence of hypertension based on three separate visits among Chin...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00307
更新日期:2019-07-24 00:00:00
abstract::Background: Although WU polyomavirus (WU) and KI polyomavirus (KI) have been demonstrated to infect the human respiratory tract, it remains unclear if WU or KI cause human disease. We sought to further investigate the relationship between WU and KI infection and respiratory disease in a pediatric population with respi...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00228
更新日期:2018-08-17 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:OBJECTIVE:We investigated the relationship between influenza seasonality and outcome of very low birth weight infants (VLBWI) in a large observational cohort study of the German Neonatal Network. MATERIALS AND METHODS:Within the observational period (July 2009 until December 2014), five influenza seasons occurred (mea...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2016.00130
更新日期:2016-11-30 00:00:00
abstract::To date, the only known effective treatment for celiac disease (CD) is a strict gluten-free diet (GFD) for life. Patients with CD often find it difficult to adhere to strict GFD. Oats, compared with wheat, barley, and rye, contain less amounts of prolamins. Inclusion of oats in a GFD might be valuable due to their nut...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00384
更新日期:2019-09-26 00:00:00
abstract::Severe invasive infections such as brain abscess in a child should prompt an immune evaluation. Specific granule deficiency (SGD) is a rare morphologic neutrophil granular defect characterized by reduced granules within neutrophils, absence of granule proteins, and bilobed nuclei. Patients are susceptible to invasive ...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00117
更新日期:2020-04-22 00:00:00
abstract::Background: Compared to breast-fed (BF), formula-fed (FF) infants exhibit more rapid weight gain, a different fecal microbial profile, as well as elevated serum insulin, insulin growth factor 1 (IGF-1), and branched chain amino acids (BCAAs). Since infant formula contains more protein and lower free amino acids than b...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00563
更新日期:2020-01-24 00:00:00
abstract::Introduction: The pediatric perineal microbiomes inhabit a dynamic environment with changes related to diet, toileting habits, and hormonal development. We hypothesized that next-generation sequencing would reveal different perineal bacterial signatures associated with developmental milestones in premenstrual females....
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.542413
更新日期:2020-12-08 00:00:00
abstract:Background:This study aimed to assess the prevalence of picky eating among preschool children and to evaluate the association between eating behavior and growth, physical activity, development, and health status. Methods:A structured questionnaire was used to conduct a cross-sectional descriptive study of 300 primary ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00022
更新日期:2018-02-12 00:00:00
abstract::Objective: To identify postnatal risk factors for bronchopulmonary dysplasia (BPD) development in preterm infants with gestational age ≤32 weeks. Methods: Seventy-two preterm infants(30 with BPD and 42 non-BPD controls) admitted in the neonatal intensive care unit (NICU) of the Children's Hospital of Soochow Universit...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00349
更新日期:2020-06-26 00:00:00
abstract::Pontocerebellar hypoplasia (PCH) type 2 is a very rare autosomal recessive neurodegenerative disorder with prenatal onset that disrupts brain development. We present three patients (two siblings and one unrelated child) with PCH 2 linked to the most common mutation c.919G > T (p.Ala307Ser) in TSEN54 gene. The disease ...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2018.00001
更新日期:2018-01-23 00:00:00
abstract::Differences in the development of the male and female brain are an evolving area of investigation. We are beginning to understand the underpinnings of male and female advantages due to differences in brain development as well as the consequences following hypoxic-ischemic brain injury in the newborn. The two main fact...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00211
更新日期:2019-06-26 00:00:00
abstract::Genetic polymorphisms in genes coding for inflammasome components nucleotide-binding oligomerization domain leucine rich repeat and pyrin domain-containing protein 3 (NLRP3) and caspase recruitment domain-containing protein 8 (CARD8) have been associated with autoinflammatory and autoimmune diseases. On the other hand...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00063
更新日期:2019-03-12 00:00:00
abstract::Systemic inflammation and duration of immobilization are strong independent risk factors for the development of intensive care unit-acquired weakness (ICUAW). Activation of the pro-inflammatory transcription factor nuclear factor-κB (NF-κB) results in muscle wasting during disuse-induced skeletal muscle atrophy (ICU b...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2016.00069
更新日期:2016-08-02 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::Objectives: Empirical assessment of parental needs and affecting factors for counseling success after prenatal diagnosis of congenital heart disease (CHD). Methods:Counseling success after fetal diagnosis of CHD was assessed by a validated standardized questionnaire. The dependent variable "Effective Counseling" was m...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00026
更新日期:2020-02-26 00:00:00
abstract:OBJECTIVES:Nationally accredited simulation courses such as advance pediatric life support and pediatric advance life support are recommended for health care professionals (HCPs) at two yearly intervals as a minimum requirement, despite literature evidence suggesting rapid decline in knowledge shortly after course comp...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2014.00133
更新日期:2014-11-24 00:00:00
abstract::We describe a giant gastric phytobezoar in a child with repaired congenital esophageal atresia. At age two, a gastric interposition (pull-up) procedure was performed for severe and recurrent esophageal strictures. For 12 months post-gastric interposition, he experienced frequent respiratory illnesses requiring hospita...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2017.00098
更新日期:2017-06-19 00:00:00
abstract::Background: Histological chorioamnionitis (HCA) is an infection/inflammation of fetal membranes and complicates 5.2-28.5% of all live births. Exposure to HCA can have long-term consequences including abnormal neurodevelopment and an increased risk for allergic disorders and asthma later in childhood. HCA may incite ep...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00437
更新日期:2020-08-04 00:00:00
abstract::Inflammatory bowel disease (IBD) is a chronic relapsing inflammatory disorder of the gastrointestinal tract associated with significant morbidity. While IBD occurs in genetically susceptible individuals, the etiology is multifactorial, involving environmental influences, intestinal dysbiosis, and altered immune respon...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2013.00034
更新日期:2013-11-06 00:00:00
abstract::Background: Eculizumab has dramatically changed poor outcomes of complement-mediated atypical hemolytic uremic syndrome (aHUS) as first-line treatment. Discontinuation of eculizumab remains challenging, and doctor's visits every 2 weeks for intravenous injection because of standard dosing protocols is a huge burden. T...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2019.00519
更新日期:2019-12-17 00:00:00
abstract::Introduction: Low-income and racial/ethnic minority preschoolers (aged 2-5 years) are disproportionately affected by obesity and its associated health consequences. Individual-level factors (e.g., diet) and environmental factors (e.g., neighborhood conditions) contribute to these disparities. However, there is limited...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00433
更新日期:2019-01-22 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::In genome science, the advancement in high-throughput sequencing technologies and bioinformatics analysis is facilitating the better understanding of Mendelian and complex trait inheritance. Charting the genetic basis of complex diseases - including pediatric cancer, and interpreting huge amount of next-generation seq...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2014.00012
更新日期:2014-03-03 00:00:00
abstract::Perianal abscess and fistula-in-ano are well-described in the pediatric population. They are most common in infants less than 1 year of age and often resolve with oral antibiotics; occasionally they require drainage or fistulotomy. The etiology is commonly associated with cryptoglandular obstruction and subsequent inf...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2018.00143
更新日期:2018-05-16 00:00:00
abstract:INTRODUCTION:The usefulness of qualitative or quantitative volumetric magnetic resonance imaging (MRI) in early detection of brain structural changes and prediction of adverse outcomes in neonatal illnesses warrants further investigation. Our aim was to correlate certain brain injuries and the brain volume of feeding-r...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2017.00073
更新日期:2017-04-10 00:00:00