Abstract:
:Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) gene which encodes the key protein of the carnitine cycle, the OCTN2 carnitine transporter. PCD is typically identified in childhood by either hypoketotic hypoglycemia, or skeletal and cardiac myopathy. The aim of this study was to the clinical, biochemical, and molecular characteristics of PCD patients via newborn screening with tandem mass spectrometry (MS/MS). Methods: MS/MS was performed to screen newborns for inherited metabolic diseases. SLC22A5 gene mutations were detected in the individual and/or their family member by DNA mass array and next-generation sequencing (NGS). Results: Among the 236,368 newborns tested, ten exhibited PCD, and six others were diagnosed with low carnitine levels caused by their mothers, who had asymptomatic PCD. The incidence of PCD in the Xuzhou area is ~1:23,637. The mean initial free carnitine (C0) concentration of patients was 6.41 ± 2.01 μmol/L, and the follow-up screening concentration was 5.80 ± 1.29 μmol/L. After treatment, the concentration increased to 22.8 ± 4.13 μmol/L. Conclusion: This study demonstrates the important clinical value of combining MS/MS and NGS for the diagnosis of PCD and provides new insight into the diagnosis of PCD and maternal patients with PCD using C0 concentration and SLC22A5 mutations.
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
Zhou W,Li H,Huang T,Zhang Y,Wang C,Gu Mdoi
10.3389/fped.2019.00050subject
Has Abstractpub_date
2019-02-26 00:00:00pages
50issn
2296-2360journal_volume
7pub_type
杂志文章abstract::Inflammatory bowel disease (IBD) is a chronic, immune-mediated, non-curable disease. The incidence of IBD appears to have risen over the last few decades especially in the pediatric age group. IBD usually presents with gastrointestinal symptoms, including abdominal pain, diarrhea, and bleeding per rectum but can also ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00400
更新日期:2020-07-17 00:00:00
abstract::Since the advent of extracorporeal membrane oxygenation (ECMO) over 40 years ago, there has been increasing interest in the use of the extracorporeal circuit as a platform for providing multiple organ support. In this review, we will examine the evidence for the use of continuous renal replacement therapy, therapeutic...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00078
更新日期:2018-04-03 00:00:00
abstract::Background: High parent education is protective against youth health risk behaviors such as tobacco use. According to the Minorities' Diminished Returns theory, however, higher parent education seems to exert less protection for the ethnic minority relative to the majority groups. Objectives: To explore ethnic differe...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00457
更新日期:2020-08-19 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::Background: Necrotizing enterocolitis (NEC) is the most common life-threatening gastrointestinal condition among very and extremely preterm infants. Stem cell therapy has shown some promising protective effects in animal models of intestinal injury, including NEC, but no systematic review has yet evaluated the preclin...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.578984
更新日期:2020-12-09 00:00:00
abstract::A 3-year-old girl was admitted to our hospital for the correction of atrial septal defect (ASD). Open heart operation with cardiopulmonary bypass is dangerous because the patient also had hereditary spherocytosis, which put her at risk for hemolytic anemia. Therefore, percutaneous transcatheter closure for ASD was cho...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2019.00506
更新日期:2019-12-17 00:00:00
abstract::Background: Oral health is important for overall health of youth, although dental service utilization is lower than national goals. The purpose of the study was to identify sociodemographic and health behavioral characteristics of youth in the United States who reported having at least one dental visit in the past 12 ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00104
更新日期:2018-05-04 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::The first successful total right heart bypass via atriopulmonary anastomosis (APA) were reported in 1971 for patients with tricuspid atresia. At the Children's Hospital of Buenos Aires, the cohort of such procedures started in July, when the first fenestrated right heart by pass was performed, with the interposition o...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2013.00045
更新日期:2013-12-18 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::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:Hypospadias is a male congenital condition where the opening of the urethral meatus is not located in the typical anatomical position. It has been a challenge for empirical studies to ascertain the level of concordance of opinion among parents and urologists with regard to surgical outcomes according to hy...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2016.00002
更新日期:2016-01-25 00:00:00
abstract::Background: Placenta shows high transcription levels of human endogenous retroviruses (HERVs) that are overexpressed during embryonic and fetal development. Methods: In order to gather further information on the degree of HERV activation in maternal and fetal tissues we assessed the transcription levels of pol genes o...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00244
更新日期:2020-05-14 00:00:00
abstract::Pediatric critical care services in India have grown with leaps and bounds. There has been a growing need of physicians specially trained in pediatric critical care medicine (PCCM) in India. Physicians returning to India after their formal training in PCCM abroad have partly supported this growing need. Development of...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00034
更新日期:2018-02-26 00:00:00
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 (ARP...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00077
更新日期:2017-04-19 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::Over the past decade, there has been a growing awareness of the vital role of the microbiome in the function of the immune system. Recently, several studies have demonstrated a relationship between the composition of the microbiome and the vaccine-specific immune response. As a result of these findings, the administra...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.565368
更新日期:2020-11-26 00:00:00
abstract::Background: Childhood refractory mycoplasma pneumoniae (MP) pneumonia (RMPP) is a lung disease with elevated level of C-reactive protein and severe clinical and radiological deterioration. Whether bacterial co-infection contributes to disease of RMPP and whether inclusion of non-anti-MP antibiotics in treatment regime...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00296
更新日期:2018-10-26 00:00:00
abstract::Background: Ornithine transcarbamylase deficiency (OTCD) is an X- linked recessive disorder and the most common error of the urea cycle, caused by the mutations in the OTC gene. Due to X-inactivation, 15-20% of female carriers present symptoms of OTCD at late onset. Early diagnosis of OTCD by molecular analysis in fem...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00321
更新日期:2020-07-23 00:00:00
abstract::Response to early intervention programs in autism is variable. However, the factors associated with positive versus poor treatment outcomes remain unknown. Hence the issue of which intervention/s should be chosen for an individual child remains a common dilemma. We argue that lack of knowledge on "what works for whom ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2014.00058
更新日期:2014-06-20 00:00:00
abstract::Sickle cell disease (SCD) is a severe autosomal recessively inherited disorder of the red blood cell characterized by erythrocyte deformation caused by the polymerization of the abnormal hemoglobin, which leads to erythrocyte deformation and triggers downstream pathological changes. These include abnormal rheology, va...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.551170
更新日期:2021-01-05 00:00:00
abstract::Minimal residual disease (MRD) by multiparametric flow cytometry (MFC) has been recently shown as a strong and independent prognostic marker of relapse in pediatric AML (pedAML) when measured at specific time points during Induction and/or Consolidation therapy. Hence, MFC-MRD has the potential to refine the current s...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00412
更新日期:2019-10-11 00:00:00
abstract::Objective: The objective of the study is to test whether the use of edible oil might be an early treatment strategy for reducing button battery-induced esophageal injury. Methods: A button battery was inserted into esophageal segments collected from pigs. The esophageal segments were randomly allotted to one of the fo...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00097
更新日期:2020-03-13 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: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::Although antibiotics confer significant health benefits in treating or preventing bacterial infections, an accumulating wealth of evidence illustrates their detrimental effect on host-microbiota homeostasis, posing a serious menace to the global public health. In recent years, it is becoming evident that infants, who ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.544460
更新日期:2020-10-15 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
abstract::Background: Survival of very-low-birth-weight infants is improving in neonatology and family-centered-care might contribute to premature infants' clinical outcomes. Aim: To evaluate a family-centered care intervention on clinical outcomes of very-low-birth-weight infants. Methods: A quasi-experimental study was conduc...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00138
更新日期:2019-04-12 00:00:00
abstract::Sensory processing difficulties are common among many special needs children, especially those with autism spectrum disorder (ASD). The sensory sensitivities often result in interference of daily functioning and can lead to social isolation for both the individual and family unit. A quality improvement (QI) project wa...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2017.00193
更新日期:2017-09-15 00:00:00
abstract::Background: Although most preterm infants breathe at birth, their respiratory drive is weak and supplemental oxygen is often needed to overcome hypoxia. This could in turn lead to hyperoxia. To reduce the risk of hyperoxia, currently an initial low oxygen concentration (21-30%) is recommended during stabilization at b...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00179
更新日期:2019-05-07 00:00:00