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 due to the development of new drugs attempting either to ameliorate secondary pathophysiologic consequences or to modify the underlying genetic defect itself. While the effects on the course of disease are still modest in some NMDs (e.g., Duchenne muscular dystrophy), new therapies have substantially prolonged life expectancy and improved motor function in others (e.g., spinal muscular atrophy and infantile onset Pompe disease). This review summarizes recently approved medicaments and provides an outlook for new therapies that are on the horizon in this field.
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
Flotats-Bastardas M,Hahn Adoi
10.3389/fped.2020.583877subject
Has Abstractpub_date
2020-11-23 00:00:00pages
583877issn
2296-2360journal_volume
8pub_type
杂志文章,评审abstract::Introduction: Emergency vascular access is rarely required during neonatal resuscitation. We aimed to analyze frequency of use, success, and complication rates of intraosseous (IO) vascular access in neonates at a single tertiary neonatal intensive care unit. Method: We performed a questionnaire-based survey among ped...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.571285
更新日期:2020-09-18 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::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::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
pub_type:
doi:10.3389/fped.2020.585646
更新日期:2020-10-30 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
pub_type:
doi:10.3389/fped.2019.00130
更新日期:2019-04-24 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::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::Vascular tumors in pediatric patients are an important entity for the clinician to recognize and correctly diagnose. They may present at birth or develop at any point during infancy, childhood, or adolescence. Most are benign, but even benign lesions may have significant morbidity without proper intervention. Malignan...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.573023
更新日期:2020-10-22 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::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::Chronic active Epstein-Barr virus (EBV) infection (CAEBV) is an EBV-associated lymphoproliferative disease characterized by repeated or sustainable infectious mononucleosis (IM)-like symptoms. EBV is usually detected in B cells in patients who have IM or Burkitt's lymphoma and even in patients with X-linked lymphoprol...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2019.00015
更新日期:2019-02-04 00:00:00
abstract::Severe invasive infections such as brain abscess in a child should prompt an immune evaluation. Specific granule deficiency (SGD) is a rare morphologic neutrophil granular defect characterized by reduced granules within neutrophils, absence of granule proteins, and bilobed nuclei. Patients are susceptible to invasive ...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00117
更新日期:2020-04-22 00:00:00
abstract::Background: Environmental issues lead to serious health problems in young growing children. This study aims to determine the association between a country's level of environmental health, ecosystem vitality, and prevalence of early childhood caries (ECC). Methods: This was an ecological study. The data for the explana...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00196
更新日期:2020-05-19 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::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
pub_type: 杂志文章
doi:10.3389/fped.2020.00529
更新日期:2020-09-08 00:00:00
abstract::Objective: The effective diagnosis of Mycoplasma pneumoniae (MP) pneumonia (MPP) in children has been hampered by the difficulty of achieving an early diagnosis. The simultaneous amplification and testing (SAT) has the potential for early diagnosis of MP in children. Methods: Of the 1,180 children enrolled in this stu...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00441
更新日期:2019-10-25 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::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: 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
pub_type: 杂志文章
doi:10.3389/fped.2019.00563
更新日期:2020-01-24 00:00:00
abstract::Objectives: Mutations in the neuroblastoma-amplified sequence (NBAS) gene were originally described in patients with skeletal dysplasia or isolated liver disease of variable severity. Subsequent publications reported a more complex phenotype. Among multisystemic clinical symptoms, we were particularly interested in th...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00577
更新日期:2020-09-15 00:00:00
abstract::Neonatal spinal cord injury is a rare complication of birth trauma by difficult delivery. The typical manifestations are often catastrophic, include decreased or absent movement, loss of reflexes, apnea or periodic breathing, and a lack of response to painful stimulation. The outcome is usually fatal or severe, with l...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00514
更新日期:2020-09-29 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::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: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:OBJECTIVES/HYPOTHESIS:Congenital aural atresia is a rare condition affecting 1 in 10,000-20,000 children a year. Surgery is required to restore hearing to facilitate normal development. The objective of this study was to compare outcomes in hearing, complications, and quality of life of surgical reconstruction of the e...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2014.00005
更新日期:2014-01-22 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::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::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::The evaluation and treatment of the heterogeneous group of kidney diseases poses a challenging field in pediatrics. Many of the pediatric disorders resulting in severe renal affection are exceedingly rare and therapeutic approaches have remained symptomatic for most of these disease entities. The insights obtained fro...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2014.00068
更新日期:2014-07-01 00:00:00