Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature.

abstract：:[This corrects the article DOI: 10.3389/fped.2018.00316.]. ...

journal_title：Frontiers in pediatrics

authors： Ebrahimi-Fakhari D,Dillmann U,Flotats-Bastardas M,Poryo M,Abdul-Khaliq H,Shamdeen MG,Mischo B,Zemlin M,Meyer S

更新日期：2019-07-25 00:00:00

abstract：:Objective: To evaluate serial ferritin levels measured in the initial 72 h of admission as a biomarker for new and progressive multi organ dysfunction syndrome (NPMODS) and mortality (unfavorable outcomes) in critically ill children with sepsis due to tropical infections. Material and Methods: In this prospective obse...

journal_title：Frontiers in pediatrics

authors： Williams V,Menon N,Bhatia P,Biswal M,Sreedharanunni S,Rawat A,Jayashree M,Nallasamy K

更新日期：2020-12-03 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

authors： Zhang FZ,Yuan JX,Qin L,Tang LF

更新日期：2020-06-11 00:00:00

abstract：:Introduction: Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare and life-threatening autosomal recessive disorder of mitochondrial fatty acid oxidation caused by variation of the Solute carrier family 25 member 20 (SLC25A20) gene. Carnitine-acylcarnitine translocase is one of the crucial transport prote...

journal_title：Frontiers in pediatrics

authors： Chen M,Cai Y,Li S,Xiong H,Liu M,Ma F,Xiao X,Hao H

更新日期：2020-10-30 00:00:00

abstract：:Background: Percutaneous balloon valvuloplasty (PBPV) is recommended as a first-choice treatment for critical pulmonary stenosis (CPS). A concept of perinatal integrative management has been developed. Unfortunately, the evidence on the advantage of integrative management for CPS during the perinatal period is absent....

journal_title：Frontiers in pediatrics

authors： Li J,Li G,Shi X,Wang C,Duan H,Zhou K,Hua Y,Li Y

更新日期：2020-12-21 00:00:00

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...

journal_title：Frontiers in pediatrics

authors： Chaimowitz NS,Branch J,Reyes A,Vargas-Hernández A,Orange JS,Forbes LR,Ehlayel M,Purayil SC,Al-Nesf MA,Vogel TP

更新日期：2019-04-24 00:00:00

abstract：:Acute myeloid leukemia (AML) is the second most common leukemia of childhood and is associated with high rates of chemotherapy resistance and relapse. Clinical outcomes for children with AML treated with maximally intensive multi-agent chemotherapy lag far behind those of children with the more common acute lymphoblas...

journal_title：Frontiers in pediatrics

authors： Sexauer AN,Tasian SK

更新日期：2017-11-20 00:00:00

abstract：:Antiphospholipid syndrome (APS) is a rare condition in childhood, but even more in the neonatal age. Most neonatal cases are considered a passively acquired autoimmune disease, due to a transplacental passage of maternal antiphospholipid antibodies (aPL) from mothers with primary or secondary APS or, more often, from ...

journal_title：Frontiers in pediatrics

authors： Giani T,Mauro A,Ferrara G,Cimaz R

更新日期：2020-11-24 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

authors： Nguyen HH,Khanh Nguyen N,Dung Vu C,Thu Huong Nguyen T,Nguyen NL

更新日期：2020-07-23 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

authors： Chin KY,Pang KL

更新日期：2020-09-11 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

authors： Buldini B,Maurer-Granofszky M,Varotto E,Dworzak MN

更新日期：2019-10-11 00:00:00

abstract：:Heart rate (HR) and blood pressure (BP) form the basis for monitoring the physiological state of patients. Although norms have been published for healthy and hospitalized children, little is known about their distributions in critically ill children. The objective of this study was to report the distributions of these...

journal_title：Frontiers in pediatrics

authors： Eytan D,Goodwin AJ,Greer R,Guerguerian AM,Laussen PC

更新日期：2017-03-17 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

authors： Lucas EJ,Ching CB,Saraswat S,Dabdoub SM,Kumar PP,Justice SS

更新日期：2020-12-08 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

authors： He X,Sotelo-Orozco J,Rudolph C,Lönnerdal B,Slupsky CM

更新日期：2020-01-24 00:00:00

abstract：:The solute carrier family 16 member 1 (SLC16A1) gene encodes for monocarboxylate transporter 1 (MCT1) that mediates the movement of monocarboxylates, such as lactate and pyruvate across cell membranes. Inactivating recessive homozygous or heterozygous mutations in the SLC16A1 gene were described in patients with recur...

journal_title：Frontiers in pediatrics

authors： Al-Khawaga S,AlRayahi J,Khan F,Saraswathi S,Hasnah R,Haris B,Mohammed I,Abdelalim EM,Hussain K

更新日期：2019-07-18 00:00:00

abstract：:The COVID-19 crisis has pressured hospital-based care for children with high-risk asthma as they have become deprived of regular clinical evaluations. However, COVID-19 also provided important lessons about implementing novel directions for care. Personalized eHealth technology, tailored to the individual and the heal...

journal_title：Frontiers in pediatrics

authors： van der Kamp MR,Tabak M,de Rooij SEJA,van Lierop PPE,Thio BJ

更新日期：2020-09-08 00:00:00

abstract：:Anticoagulation is an imperfect science and is even more complicated in neonates and young children. The addition of the extracorporeal life support (ECLS) foreign circuit adds an additional layer of complexity. Anticoagulation goals during ECLS are to maintain a clot-free circuit and a hemostatically balanced patient...

journal_title：Frontiers in pediatrics

authors： Ryerson LM,Lequier LL

更新日期：2016-06-22 00:00:00

abstract：:[This corrects the article on p. 82 in vol. 5, PMID: 28484690.]. ...

journal_title：Frontiers in pediatrics

authors： Tsabouri S,Mavroudi A,Feketea G,Guibas GV

更新日期：2017-09-11 00:00:00

abstract：:Pertussis, caused by Bordetella (B.) pertussis, a Gram-negative bacterium, is a highly contagious airway infection. Especially in infants, pertussis remains a major health concern. Acute infection with B. pertussis can cause severe illness characterized by severe respiratory failure, pulmonary hypertension, leucocytos...

journal_title：Frontiers in pediatrics

authors： Zlamy M

更新日期：2016-06-08 00:00:00

abstract：:Background: The MTUS1 gene encodes a microtubule-associated protein involved in multiple processes including cell polarity and microtubule balance during myocardial development. Aims: To investigate the association between a de novo c. 2617A->C mutation in MTUS1 (NM_001001924.2) and non-compaction of ventricular myoca...

journal_title：Frontiers in pediatrics

authors： Bai X,Zhou Y,Ouyang N,Liu L,Huang X,Tian J,Lv T

更新日期：2019-07-02 00:00:00

abstract：:Background: Autosomal recessive primary microcephaly (Microcephaly Primary Hereditary, MCPH) is a rare disorder, affecting 1 in 10,000 children in areas where consanguineous marriages are common. WDR62 gene mutations are the second most common cause of MCPH. Herein, we report a case of primary microcephaly caused by t...

journal_title：Frontiers in pediatrics

authors： Yi YG,Lee DW,Kim J,Jang JH,Lee SM,Jang DH

更新日期：2019-11-07 00:00:00

abstract：:X-linked lymphoproliferative disease (XLP) is one of the X-linked primary immunodeficiency diseases (PIDs) with defective immune response to Epstein-Barr virus (EBV) infection. Chronic active EBV infection (CAEBV) and EBV-hemophagocytic lymphohistiocytosis (HLH) are recognized as systemic EBV-positive T-cell and natur...

journal_title：Frontiers in pediatrics

authors： Ishimura M,Eguchi K,Shiraishi A,Sonoda M,Azuma Y,Yamamoto H,Imadome KI,Ohga S

更新日期：2019-05-21 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

authors： Chew C,Lennon R

更新日期：2018-01-29 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

authors： Hansen-Estruch C,Coleman KK,Thoon KC,Low JG,Anderson BD,Gray GC

更新日期：2018-08-17 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

authors： Fong G,Gayen Nee' Betal S,Murthy S,Favara M,Chan JSY,Addya S,Shaffer TH,Greenspan J,Bhandari V,Li D,Rahman I,Aghai ZH

更新日期：2020-08-04 00:00:00

abstract：:Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive, combined immunodeficiency within the spectrum of hyper-IgE syndromes. Epstein-Barr virus-positive lymphomatoid granulomatosis (LYG) (EBV + LYG) is a rare diagnosis and a previously unreported presentation of DOCK8 deficiency. A 10-year-old girl w...

journal_title：Frontiers in pediatrics

authors： Dimitriades VR,Devlin V,Pittaluga S,Su HC,Holland SM,Wilson W,Dunleavy K,Shah NN,Freeman AF

更新日期：2017-02-28 00:00:00

abstract：:In recent years the number of extracorporeal membrane oxygenation (ECMO) cases in neonates has been relatively constant. Future expansion lays in new indications for treatment. Regionalization to high-volume ECMO centers allows for optimal utilization of resources, reduction in costs, morbidity, and mortality. Mobile ...

journal_title：Frontiers in pediatrics

authors： Broman LM

更新日期：2019-08-06 00:00:00

abstract：:Objective: 11β-hydroxylase deficiency (11βOHD) is a rare autosomal recessive disorder caused by mutations in the CYP11B1 gene. It is characterized by virilization, hypertension, and significant final height impairment. In this study, we aim to investigate the clinical and molecular characteristics of four unrelated Ch...

journal_title：Frontiers in pediatrics

authors： Zhou Q,Wang D,Wang C,Zheng B,Liu Q,Zhu Z,Jia Z,Gu W

更新日期：2020-07-24 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

authors： Vivanti G,Prior M,Williams K,Dissanayake C

更新日期：2014-06-20 00:00:00

abstract：:While awareness and understanding of concussion have improved drastically, post-concussion management in academic settings is still at its infancy. The aim of the study was to examine to what extent concussion influences academic performance and to whether there would be a difference in concussion effects on academic ...

journal_title：Frontiers in pediatrics

authors： Holmes A,Chen Z,Yahng L,Fletcher D,Kawata K

更新日期：2020-03-04 00:00:00