Abstract:
:Autosomal dominant hyper-IgE syndrome caused by mutations in the transcription factor STAT3 (AD-HIES) is characterized by a collection of immunologic and non-immune features including eczema, recurrent infections, elevated IgE levels, and connective tissue anomalies. We report the case of a Qatari child with a history of recurrent staphylococcal skin infections since infancy, who was found to have a novel, de novo mutation in STAT3 (c.1934T>A, p.L645Q). The absence of mucocutaneous candidiasis and undetectable IgE levels until the age of 7 years prolonged the time to molecular confirmation of the cause for the patient's immune deficiency. STAT3 p.L645Q was found to have decreased transcriptional capacity. The patient also had low levels of Th17 cells and STAT3 phosphorylation was impaired in patient-derived cells. Nearly 100 unique mutations in STAT3 have been reported in association with AD-HIES.
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
Chaimowitz NS,Branch J,Reyes A,Vargas-Hernández A,Orange JS,Forbes LR,Ehlayel M,Purayil SC,Al-Nesf MA,Vogel TPdoi
10.3389/fped.2019.00130subject
Has Abstractpub_date
2019-04-24 00:00:00pages
130issn
2296-2360journal_volume
7pub_type
abstract::The evolution of robotic surgical technology and its application in Pediatric Urology have been rapid and essentially successful. Further development remains limited in three key areas: procedural inefficiencies, cost and integration of surgical and clinical information. By addressing these challenges through technolo...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00090
更新日期:2019-03-26 00:00:00
abstract::Despite distinct epidemiology and outcomes, pediatric acute respiratory distress syndrome (PARDS) is often managed based on evidence extrapolated from treatment of adults. The impact of non-pulmonary processes on mortality as well as the lower mortality rate compared to adults with acute respiratory distress syndrome ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2016.00051
更新日期:2016-05-13 00:00:00
abstract::We constructed an optimal machine learning (ML) method for predicting intravenous immunoglobulin (IVIG) resistance in children with Kawasaki disease (KD) using commonly available clinical and laboratory variables. We retrospectively collected 98 clinical records of hospitalized children with KD (2-109 months of age). ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.570834
更新日期:2020-12-03 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::Introduction: Childhood growth is a sensitive marker of health. Animal studies show increased height and weight velocity in the presence of fungal as well as antibiotic supplement in feed. Human studies on early gut microbiota and anthropometrics have mainly focused on bacteria only and overweight, with diverging resu...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.572538
更新日期:2020-11-09 00:00:00
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 psy...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2014.00057
更新日期:2014-06-23 00:00:00
abstract::Objective: To highlight severe adenovirus pneumonia in immunocompetent patients by analysis of severe adenovirus pneumonia associated with acute respiratory distress syndrome in whom extracorporeal membrane oxygenation (ECMO) support is required. Methods:Pediatric patients with adenovirus pneumonia and ECMO supports i...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00162
更新日期:2020-04-15 00:00:00
abstract::It is necessary to conduct Clinical Trials in children, including for novel vaccines. Children cannot legally provide valid consent, but can assent to research participation. Informed consent and assent communications are frequently criticized for their lack of comprehensibility and often, researchers do not involve p...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.520803
更新日期:2021-01-12 00:00:00
abstract::Bronchial asthma is one of the most common chronic inflammatory diseases of the airways. In the pathogenesis of this disease, the interplay among the genes, intrinsic, and extrinsic factors are crucial. Various combinations of the involved factors determine and modify the final clinical phenotype/endotype of asthma. O...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00162
更新日期:2017-07-24 00:00:00
abstract::Introduction: Children younger than 2 years have an increased risk of complications associated with tuberculosis (TB) due to the immaturity of the innate and adaptive immune response. We aimed to identify TB clinical presentations and outcomes as well as risk factors for complications in this age group. Materials and ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00238
更新日期:2019-06-11 00:00:00
abstract::Background: Mounting evidence suggests that childhood asthma is closely associated with maternal weight before pregnancy and gestational weight gain (GWG), yet the results are not often reproducible. Objectives: We conducted a comprehensive meta-analysis, aiming to evaluate the association of pre-pregnancy maternal ob...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00134
更新日期:2020-04-03 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::Neonatal encephalopathy (NE) is associated with high mortality and morbidity. Factors predisposing to NE can be antenatal, perinatal, or a combination of both. Antenatal maternal factors, familial factors, genetic predisposition, hypoxic ischemic encephalopathy, infections, placental abnormalities, thrombophilia, coag...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00142
更新日期:2019-04-16 00:00:00
abstract:OBJECTIVES:To determine the influence of family, peers, school, and physicians on exercise in pediatric oncology patients and evaluate the barriers to physical activity (PA) levels in this population. METHODS:A search of PubMed and Google Scholar resulted in 12 related articles. The articles were assessed for the infl...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2016.00131
更新日期:2016-12-19 00:00:00
abstract::Background: Necrotizing enterocolitis (NEC) is an often-fatal neonatal disease involving intestinal hyperinflammation leading to necrosis. Despite ongoing research, (1) conflicting results and (2) comorbidities of NEC patients make early NEC detection challenging and may complicate therapy development. Most research s...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.593926
更新日期:2021-01-06 00:00:00
abstract::Background: Airway malacia (AM) is a weakness of the airway's frameworks making them collapsible during the respiratory phases. Although the larynx, trachea, and bronchus are the usual sites for malacia to occur, there is another important type of malacia that involves the pharynx. Pharyngomalacia (PM) or concentric p...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.555564
更新日期:2020-10-30 00:00:00
abstract::Introduction: Anterior lens capsule vascularity (ALCV) is resorbed in the developing fetus from 27 to 35 weeks gestation. In this pilot study, we evaluated the feasibility and validity of combining smartphone ophthalmoscope videos of ALCV and image analysis for gestational age estimation. Methods: ALCV videos were cap...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00043
更新日期:2019-02-20 00:00:00
abstract:Background:Pediatric sepsis causes significant global morbidity and mortality and low- and middle-income countries (LMICs) bear the bulk of the burden. International sepsis guidelines may not be relevant in LMICs, especially in sub-Saharan Africa (SSA), due to resource constraints and population differences. There is a...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2017.00278
更新日期:2017-12-22 00:00:00
abstract::Cerebral palsy (CP) is the most common cause of disability in childhood. Respiratory illness is the most common cause of mortality, morbidity, and poor quality of life in the most severely affected children. Respiratory illness is caused by multiple and combined factors. This review describes these factors and discuss...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00333
更新日期:2020-06-24 00:00:00
abstract::Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative diseases (EBV-T/NK-LPDs) are a group of rare diseases resulting from ectopic infection of T or natural killer (NK) lymphocytes with Epstein-Barr virus (EBV). EBV-T/NK-LPDs include chronic active EBV infection, EBV-associated hemophagocytic lymphoh...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00417
更新日期:2019-01-04 00:00:00
abstract::Thrombocytopenia and pancytopenia, occurring in patients with Fanconi anemia (FA), are interpreted either as progression to bone marrow failure or as developing myelodysplasia. On the other hand, immune thrombocytopenia (ITP) represents an acquired and often self-limiting benign hematologic disorder, associated with p...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2015.00050
更新日期:2015-06-08 00:00:00
abstract::Isoflavones are dietary phytoestrogens commonly found in soy-based products. The widespread presence of isoflavones in soy infant formula and breast milk may have long-lasting effects on the development of sex hormone-sensitive organs like the skeleton. Animal early-life programming models are suitable for testing the...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00563
更新日期:2020-09-11 00:00:00
abstract:Objectives:Disparities in obesity care exist among African-American children and adults. We sought to test the feasibility of a pilot program, a 1-year family-based intervention for African-American families with obesity [shape up and eat right (SUPER)], adopting the shared medical appointment model (SMA) at an urban s...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00101
更新日期:2018-04-12 00:00:00
abstract::The concept of orthostatic hypertension in children was first proposed in 2012. The pathogenesis is not clear by now. Orthostatic hypertension is one of the important causes of orthostatic intolerance in children and is related to the development of essential hypertension in the future. It is commonly seen in older ch...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00425
更新日期:2020-07-29 00:00:00
abstract::Background and Objective: Mild hypospadias is a birth congenital condition characterized by the relocation of the male urethral meatus from its typical anatomical position near the tip of the glans penis, to a lower ventral position up to the brim of the glans corona, which can also be accompanied by foreskin ventral ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.586287
更新日期:2020-12-23 00:00:00
abstract::Objective: The primary goal of this study was to assess current maintenance intravenous fluid (mIVF) prescribing practices of pediatric hospitalists after the release of the American Academy of Pediatrics Clinical Practice Guideline (AAP CPG), specifically assessing the rates of various isotonic vs. hypotonic solution...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00549
更新日期:2020-01-15 00:00:00
abstract:UNLABELLED:Pediatric acute encephalopathy (AE) was sometimes attributed to virus infection. However, viral infection does not always result in AE. The risk factors for developing infantile AE upon virus infection remain to be determined. Here, we report an infant with AE co-infected with human herpesvirus-6 (HHV-6) and...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2015.00026
更新日期:2015-04-02 00:00:00
abstract::Background: Improved diagnostic tests are needed for the early identification of Mycobacterium tuberculosis-infected young children exposed to an active TB (aTB) index case. We aimed to compare the diagnostic accuracy of new blood-based tests to that of the tuberculin skin test (TST) for the identification of all infe...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00311
更新日期:2019-07-25 00:00:00
abstract:BACKGROUND:Pulmonary hypertension (PH) is frequently associated with an increase in sympathetic tone. This may adversely affect cardiac autonomic control. Knowledge about the clinical impact of autonomic dysfunction in patients with PH is limited. We aimed to assess whether parameters of heart rate variability (HRV) ar...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2015.00063
更新日期:2015-07-07 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