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 females is highly desirable. The aim of the study was to identify the mutations in two unrelated Vietnamese girls suspected with OTCD and the carriers in their families for definitive diagnosis and proper counseling. Case Presentation: Two patients presented with an acute encephalopathy at the first admission. Biochemical tests revealed hyperammonemia, hyperlactatemia, elevated glutamine level, elevated transaminase, elevated urinary orotic and uracil acid levels, and disorder of prothrombin time. Brain magnetic resonance imaging indicated cerebral edema. Based on the clinical and laboratory results, the two patients were diagnosed with urea cycle disorders. Therefore, the two patients were managed by stopping feeding, with infused glucose, l-carnitine, l-arginine, and sodium benzoate, and with hemofiltration. The two patients were alert and recovered with normal blood ammonia levels after 72 h of treatment. The family history of patient 1 showed that her brother died at 4 days of age due to a coma and dyspnea, while her parents were asymptomatic. Variable phenotypes were observed in three generations of the patient 2's family, including asymptomatic (mother), affected female adults dying at the first symptom (grandmother and aunt), and affected males dying in the first week of life (uncle, cousin, and siblings). Whole-exome sequencing showed two mutations in the OTC gene, including one novel missense mutation, c.365A>T, in the patient 1 and one previously reported splicing mutation, c.717+1G>A, in the patient 2. The two mutations are evaluated as likely pathogenic and pathogenic, respectively, according to the recommendations of the American College of Medical Genetics and Genomics (ACMG). Genetic analyses in the families indicated the mothers were heterozygous. Conclusion: Clinical, biochemical, and molecular findings accurately diagnosed the two patients with late-onset OTCD. Our results explained the genetic causes and proposed the risk in the patients' families, which could be useful for genetic counseling and monitoring in prenatal diagnosis.
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
Nguyen HH,Khanh Nguyen N,Dung Vu C,Thu Huong Nguyen T,Nguyen NLdoi
10.3389/fped.2020.00321subject
Has Abstractpub_date
2020-07-23 00:00:00pages
321issn
2296-2360journal_volume
8pub_type
abstract::Background: To evaluate the effects of pressure levels on cerebral hemodynamics in premature infants receiving nasal continuous positive airway pressure (nCPAP) during the first 3 days of life. Methods: Forty-four preterm infants treated with nCPAP were divided into two groups: very preterm infants [gestational age 1 ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00487
更新日期:2020-08-21 00:00:00
abstract::Purpose: To explore the lung function of bronchopulmonary dysplasia (BPD) in premature infants to guide clinical prevention, early diagnosis and treatment. Methods: Thirty infants with BPD at 4-36 months of corrected gestational age were enrolled and divided into mild BPD and moderate and severe BPD groups. Thirty ful...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00540
更新日期:2020-01-10 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::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::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::Although antibiotics confer significant health benefits in treating or preventing bacterial infections, an accumulating wealth of evidence illustrates their detrimental effect on host-microbiota homeostasis, posing a serious menace to the global public health. In recent years, it is becoming evident that infants, who ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.544460
更新日期:2020-10-15 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::DNA repair defects are inborn errors of immunity that result in increased apoptosis and oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical manifestations since early in life, including: microcephaly, dysmorphic facial features, growth failure, developmental delay, mental retardation; hip...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00426
更新日期:2019-01-21 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::We report on the results of a literature review regarding the indications and results of operations to increase bladder outlet resistance to achieve dryness in children with neurogenic sphincter incompetence (NSBD). The relative advantages and disadvantages of injection of bulking agents, periurethral slings, bladder ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00097
更新日期:2019-03-26 00:00:00
abstract:Aim:The purpose of this study is to describe the development of an external 3-dimensional (3D) scanner as a noninvasive method for imaging chest wall deformities. It allows objective assessment, reconstruction of the area of interest, and evaluation of the severity of the deformity by using external indexes. External ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2017.00257
更新日期:2017-12-04 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::Urolithiasis can affect all children even preschool ones. Diagnostic difficulties in the youngest children are due to the problems in locating pain and determining its character and severity. In keeping with the ALARA (As Low As Reasonably Achievable) protocol, the number of imaging tests possible to perform is very l...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00324
更新日期:2019-09-06 00:00:00
abstract::Chronic active Epstein-Barr virus infection (CAEBV) is one of the Epstein-Barr virus (EBV)-positive T- or NK-lymphoproliferative diseases. It is considered rare and geographically limited to Japan and East Asia. However, CAEBV is drawing international attention, and the number of case reported worldwide is increasing,...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00014
更新日期:2019-02-05 00:00:00
abstract::In recent decades, new research into the developmental defects and pathophysiological basis of congenital diaphragmatic hernia (CDH) has revealed opportunities for the development of innovative therapies. Importantly, the use of animal models to represent this anomaly in the laboratory has resulted in the discovery of...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2014.00036
更新日期:2014-04-29 00:00:00
abstract::Introduction: Decreased respiratory muscle strength in patients with cystic fibrosis (CF) may cause progressive exercise intolerance during cardiopulmonary exercise testing (CPET), and may contribute to the development of chronic respiratory insufficiency. The aim of this study is to evaluate exercise tolerance during...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00244
更新日期:2018-09-04 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::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::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::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::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::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:OBJECTIVES:Nationally accredited simulation courses such as advance pediatric life support and pediatric advance life support are recommended for health care professionals (HCPs) at two yearly intervals as a minimum requirement, despite literature evidence suggesting rapid decline in knowledge shortly after course comp...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2014.00133
更新日期:2014-11-24 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::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::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::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::Failure of statural growth is one of the major long-term sequelae of chronic kidney disease (CKD) in children. In recent years effective therapeutic strategies have become available that lead to evidence based practice recommendations. To assess the current growth performance of European children and adolescents with ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00278
更新日期:2019-07-05 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
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00248
更新日期:2017-11-20 00:00:00
abstract::A variety of surgical techniques exist for the management of urolithiasis. Minimally invasive techniques have replaced open surgery in the last few decades. For complex stone management, robotic-assisted laparoscopic surgery (RALS) has emerged as a safe and feasible alternative in adults. The literature for RALS for u...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00351
更新日期:2019-08-22 00:00:00