Abstract:
:Deficiency of adenosine deaminase 2 (DADA2) is a monogenic form of systemic vasculopathy that often presents during early childhood. Linked to biallelic mutations in ADA2 (previously CECR1), DADA2 was initially described as a syndrome of recurrent fever, livedo racemosa, early-onset strokes, and peripheral vasculopathy that resembles polyarteritis nodosum. However, the wide spectrum of clinical findings and heterogeneity of disease, even among family members with identical mutations, is increasingly recognized. Evidence of systemic inflammation and vasculopathy is not uniformly present in DADA2 patients and some can remain asymptomatic through adulthood. Humoral immunodeficiency characterized by low immunoglobulin levels and increased risk of infection is another common feature of DADA2. Variable cytopenias including pure red cell aplasia that mimics Diamond-Blackfan anemia can also be primary manifestations of DADA2. How defects in a single gene translate into these heterogeneous presentations remains to be answered. In this review, we will summarize lessons learned from the pleiotropic clinical manifestations of DADA2.
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
Lee PYdoi
10.3389/fped.2018.00282subject
Has Abstractpub_date
2018-10-18 00:00:00pages
282issn
2296-2360journal_volume
6pub_type
杂志文章,评审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::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::Objective: Lactate is often used as a surrogate marker of inappropriate oxygen delivery. It has been shown that hyperlactatemia is associated with worse clinical outcome in children after cardiac surgery. The purpose of this study is to evaluate the association of hyperlactatemia, low systemic oxygen delivery, and hyp...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00332
更新日期:2020-06-23 00:00:00
abstract:INTRODUCTION:Adolescents and young adults with congenital heart disease (CHD) show a range of memory deficits, which can dramatically impact their clinical outcomes and quality of life. However, few studies have identified predictors of these memory changes. The purpose of this investigation was to identify predictors ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2016.00117
更新日期:2016-10-31 00:00:00
abstract::Objective: In many patients with congenital heart disease (CHD) arterial blood flow to the arms is inhibited due to shunt surgery in infancy. This study investigates the handgrip strength of patients with CHD in regard to previous shunt procedures. Patients and Methods: Handgrip was evaluated in 424 patients with vari...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00247
更新日期:2018-09-06 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
pub_type:
doi:10.3389/fped.2019.00299
更新日期:2019-07-18 00:00:00
abstract::Objective: To present 8-year follow-up outcomes, treatment of complications, and prognosis in children with congenital tracheal stenosis after metallic airway stent implantation. Methods: Retrospective analysis was performed on the clinical records of children who had airway stents placed between May 20, 2011 and May ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.579209
更新日期:2020-10-26 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::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::Introduction: Current international guidelines strongly recommend catheter removal in case of S. aureus central line-associated bloodstream infection (CLASBI), but a catheter salvage strategy may be considered in children given age-related specificities. No data is available regarding the outcome of this strategy in c...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00427
更新日期:2019-01-25 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::Background: Abernethy malformation is a rare vascular anomaly of the portal venous system, which is also known as congenital portosystemic shunts (CPSS). The clinical manifestations of this anomaly can be serious, including hepatopulmonary syndrome(HPS), which can lead to significant hypoxemia and cyanosis. Case Prese...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.497447
更新日期:2020-10-27 00:00:00
abstract::Background: Early and non-invasive diagnosis of common diseases is of great importance in the care of preterm infants. We hypothesized that volatile organic compounds (VOC) can be successfully measured in the neonatal incubator atmosphere. Methods: This is a feasibility study to investigate whether the discrimination ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00248
更新日期:2019-06-18 00:00:00
abstract::There is a growing awareness of the role that increased pulmonary vascular resistance (PVR) plays in many pathologies; therefore, assessment of pulmonary artery pressure (PAP) is an increasingly requested investigation in the critical care environment. This article will go through the basic concepts regarding PAP and ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00168
更新日期:2017-09-04 00:00:00
abstract::Introduction: The interest in laparoscopy in the treatment of ureteropelvic junction obstruction (UPJO) in children under 12 months of age remains controversial. The aim of this study is to evaluate feasibility and benefits of retroperitoneal laparoscopy (RL) compared to open surgery in this age group. Materials and M...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00194
更新日期:2019-05-24 00:00:00
abstract::Background: Viral respiratory tract infections (VRTI) may cause severe respiratory and sepsis-like symptoms in infants hospitalized in the neonatal intensive care unit (NICU). Little is known about the frequencies of VRTI in relation to visiting policies in the NICU. Objective: Aim of this study was to evaluate the fr...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.606262
更新日期:2020-11-16 00:00:00
abstract::Lung function is an important tool in the diagnosis and monitoring of patients with asthma at all ages. Airway obstruction is a typical feature of asthma and it can be assessed with several lung function techniques. Spirometry, respiratory resistance and reactance, and lung volumes are available to measure it at diffe...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00189
更新日期:2018-06-26 00:00:00
abstract::Premature births continue to rise globally with a corresponding increase in various morbidities among this population. Rates of respiratory distress syndrome and the consequent development of Bronchopulmonary Dysplasia (BPD) are highest among the extremely preterm infants. The majority of extremely low birth weight pr...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00214
更新日期:2020-05-08 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: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::Autosomal dominant polycystic kidney disease (ADPKD) affects 1 in 400 to 1,000 live births, making it the most common monogenic cause of renal failure. Although no definite cure is available yet, it is important to affect disease progression by influencing modifiable factors such as hypertension and proteinuria. Besid...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00272
更新日期:2017-12-20 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::Background: This paper presents design and results from preliminary evaluation of Tangible Geometric Games (TAG-Games) for cognitive assessment in young children. The TAG-Games technology employs a set of sensor-integrated cube blocks, called SIG-Blocks, and graphical user interfaces for test administration and real-t...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00111
更新日期:2018-05-08 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::Aim: The aim of this study was to present primary outcomes of autologous bone marrow mononuclear cell (BMMNC) transplantation to improve neurological sequelae in four children with intracranial hemorrhage (ICH) incidence during the neonatal period. Methods: GMFM88 and modified Ashworth score were used to assess motor ...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2019.00543
更新日期:2020-01-24 00:00:00
abstract::This mini review provides an overview of the issues and challenges inherent in autosomal recessive polycystic kidney disease (ARPKD), with a particular focus on the neurological factors and neurocognitive functioning of this population. ARPKD typically is discovered at the end of pregnancy or during the neonatal devel...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00107
更新日期:2017-05-15 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::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::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
pub_type: 杂志文章,评审
doi:10.3389/fped.2016.00052
更新日期:2016-06-08 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