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 dysregulation, proinflammatory immune response, autoimmune disease, and a high risk of lymphomagenesis. Progressive liver disease is a hallmark of classical A-T with the hyper-IgM phenotype and manifests as non-alcoholic hepatic steatosis and fibrosis. We report a case of a 17-year-old male A-T patient, in whom a progressive granulomatous liver disease with portal hypertension, has led to massive splenomegaly and hypersplenism, metabolic liver insufficiency, bleeding from esophageal varices and pancytopenia. In this patient, an unusual severe disease course with a highly variable constellation of A-T symptomatology includes granulomatous skin, visceral, and internal organs disease with liver involvement. The liver disease is associated with the hyper-IgM immunophenotype and escalating neurodegeneration, creating a vicious circle of immune deficiency, permanent systemic inflammatory response, and organ-specific immunopathology.
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
Szczawińska-Popłonyk A,Ossowska L,Jończyk-Potoczna Kdoi
10.3389/fped.2020.570330subject
Has Abstractpub_date
2020-11-19 00:00:00pages
570330issn
2296-2360journal_volume
8pub_type
abstract::Background: Optimal timing for resection of asymptomatic congenital lung malformations (CLMs) remains controversial. The aim of this study is to define optimal timing for surgical intervention of patients with CLMs and define clinical variables that affect surgical outcomes. Methods: An IRB-approved retrospective anal...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00035
更新日期:2020-02-14 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: 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::Childhood asthma is actually defined as a heterogeneous disease, including different clinical variants and partially sharing similar immune mechanisms. Asthma management is mainly focused on maintaining the control of the disease and reducing the risk of adverse outcomes. Most children achieve good control with standa...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00289
更新日期:2019-07-12 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::Background: Pulmonary artery banding (PAB) is reported as an innovative strategy for children with end-stage heart failure (ESHF) to bridge to transplantation or recovery. We report our early experience with PAB to evaluate outcomes, indications, and limitations. Materials and Methods: This is a single-center prospect...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00347
更新日期:2020-07-16 00:00:00
abstract::Neuromuscular disorders (NMDs) of Childhood onset are a genetically heterogeneous group of diseases affecting the anterior horn cell, the peripheral nerve, the neuromuscular junction, or the muscle. For many decades, treatment of NMDs has been exclusively symptomatic. But this has changed fundamentally in recent years...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.583877
更新日期:2020-11-23 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: The occurrence of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the associated coronavirus disease 2019 (COVID-19) have profoundly affected adult kidney disease patients. In contrast, pediatric solid organ transplant recipients, including pediatric kidney transplant (KT) recipients, ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.601327
更新日期:2020-10-30 00:00:00
abstract::Background: Eye exam for Retinopathy of prematurity (ROP) is a painful procedure and pharmacological analgesia might be ineffective. We hypothesized that magnetic auricular acupuncture (MAA) compared to placebo will decrease pain during ROP exam in preterm infants. Methods: Multicentre randomized controlled trial cond...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.615008
更新日期:2020-12-23 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::Sarcoidosis (SD) is a systemic granulomatous condition that is especially encountered in young adults and rarely in children, affecting predominantly the lungs and lymph nodes. We report the case of a 14-year-old teenage boy admitted to our clinic for nausea, vomiting, and weight loss. Clinical examination at the time...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00497
更新日期:2020-08-26 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::Autoimmune Congenital Heart Block (CHB) is an immune-mediated disease due to transplacental passage of circulating anti-Ro/SSA and anti-La/SSB autoantibodies. It occurs in 2% of anti-Ro/SSA-exposed pregnancies, and recurrence rate is nine times higher in subsequent pregnancies. Aim of this review is to identify biomar...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.607515
更新日期:2020-12-22 00:00:00
abstract::Introduction: Acute respiratory infections with cough (ARIwC) contribute considerably to childhood morbidity, yet few studies have examined the cost of these illnesses among Australian children. Moreover, of the few studies that have, none are inclusive of Aboriginal and/or Torres Strait Islander children, despite thi...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00379
更新日期:2018-12-03 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: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolithiasis diseases, cystinuria is potentially treatable, and further stone formatio...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.569389
更新日期:2020-11-11 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::Nowadays, food allergies are considered as a wide spectrum of disorders that need different approaches. The "one size fits all" approach is giving way to a "targeted approach," based on the identification of the patient's phenotype. Thus, the approach of nutritional management of food allergy has moved on from simply ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00113
更新日期:2020-03-27 00:00:00
abstract::Bronchiectasis is a complex chronic respiratory condition traditionally characterized by chronic infection, airway inflammation, and progressive decline in lung function. Early diagnosis and intensive treatment protocols can stabilize or even improve the clinical prognosis of children with bronchiectasis. However, und...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00123
更新日期:2017-05-29 00:00:00
abstract::Chronic thromboembolic pulmonary hypertension is a potentially curable form of pre-capillary pulmonary hypertension (PH) resulting from incomplete resolution of pulmonary thromboemboli. We describe an 11-year-old boy with homozygous sickle cell disease with an indwelling catheter found to have severe PH on routine scr...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00363
更新日期:2020-07-24 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::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::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::Introduction: Hepatic arteriovenous fistula (HAVF) is an abnormal communication between the hepatic arteries and hepatic veins. This condition is treated mainly using interventional closure and surgery. However, these procedures are associated with many postoperative complications and high mortality. Propranolol and o...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00163
更新日期:2020-04-21 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::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
pub_type: 杂志文章
doi:10.3389/fped.2020.00057
更新日期:2020-03-04 00:00:00
abstract::Background: Febrile urinary tract infections (FUTIs) are common among children, and are associated with a bacteraemia between 4 and 7% of cases. No data is available concerning the management of children with a bacteraemic FUTI. Objectives: To compare the antibiotic treatment (parenteral and total duration) among chil...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00237
更新日期:2020-05-28 00:00:00
abstract::Recent studies have demonstrated that gut microbiota development is influenced by human biogeographic factors such as race, ethnicity, diet, lifestyle or culture-specific variations, and other environmental influences. However, biogeographic variation in gut microbiota assembly remains largely unexplored in Latin Amer...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.573815
更新日期:2020-12-07 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