Abstract:
:Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by early onset of severe rickets, with a complete triad of clinical, biochemical and skeletal abnormalities. Homozygous or heterozygous mutations in the vitamin D receptor (VDR) gene leading to complete or partial target organ resistance to the action of 1α, 25-dihydroxyvitamin D3 (the active form of vitamin D) are responsible for HVDRR. Theoretically the therapeutic goal is to overcome this tissue resistance, and to normalize calcium and phosphate homeostasis. Practically, the treatment could be oriented to correct the secondary hyperparathyroidism to avoid long-term negative impact on bone health. The conventional therapeutic strategy (high-dose calcium plus active vitamin D metabolites) gives variable responses in magnitude and duration. We report a case of HVDRR with heterozygous mutation in the VDR gene, neonatal alopecia, and a severe clinical phenotype diagnosed at the age of 30 months who showed unsatisfactory response to traditional therapy. The short-term responsiveness to cinacalcet was encouraging, with adequate correction of phosphate-calcium homeostasis and significant improvement of clinical and radiological status at 6 months of treatment.
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
Nicolescu RC,Lombet J,Cavalier Edoi
10.3389/fped.2018.00376subject
Has Abstractpub_date
2018-11-28 00:00:00pages
376issn
2296-2360journal_volume
6pub_type
abstract:OBJECTIVE:We investigated the relationship between influenza seasonality and outcome of very low birth weight infants (VLBWI) in a large observational cohort study of the German Neonatal Network. MATERIALS AND METHODS:Within the observational period (July 2009 until December 2014), five influenza seasons occurred (mea...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2016.00130
更新日期:2016-11-30 00:00:00
abstract::Background: Timely diagnosis of child physical abuse is of paramount importance. The added value of bone scintigraphy (BS) after a negative radiological skeletal survey (RSS) in children with suspected physical abuse has never been evaluated. Objective: The objective of this study was to assess the extent to which BS ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00498
更新日期:2020-09-25 00:00:00
abstract::The first successful total right heart bypass via atriopulmonary anastomosis (APA) were reported in 1971 for patients with tricuspid atresia. At the Children's Hospital of Buenos Aires, the cohort of such procedures started in July, when the first fenestrated right heart by pass was performed, with the interposition o...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2013.00045
更新日期:2013-12-18 00:00:00
abstract::We report a novel homozygous JAK3 mutation in two female Brazilian SCID infants from two unrelated kindreds. Patient 1 was referred at 2 months of age due to a family history of immunodeficiency and the appearance of a facial rash. The infant was screened for TRECs (T-cell receptor excision circles) and KRECs (kappa-d...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2018.00230
更新日期:2018-08-20 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::We constructed an optimal machine learning (ML) method for predicting intravenous immunoglobulin (IVIG) resistance in children with Kawasaki disease (KD) using commonly available clinical and laboratory variables. We retrospectively collected 98 clinical records of hospitalized children with KD (2-109 months of age). ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.570834
更新日期:2020-12-03 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::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::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
pub_type: 杂志文章,评审
doi:10.3389/fped.2016.00067
更新日期:2016-06-22 00:00:00
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::Introduction: Hemolytic-uremic syndrome (HUS) is a common cause for intrarenal acute kidney injury in childhood. More than 90% of HUS cases are associated with an infection by Shigatoxin-producing Escherichia coli (STEC) whereas the reminder comprises a heterogeneous group (here classified as Non-STEC-HUS). Renal impa...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00220
更新日期:2018-08-07 00:00:00
abstract::Introduction: Anterior lens capsule vascularity (ALCV) is resorbed in the developing fetus from 27 to 35 weeks gestation. In this pilot study, we evaluated the feasibility and validity of combining smartphone ophthalmoscope videos of ALCV and image analysis for gestational age estimation. Methods: ALCV videos were cap...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00043
更新日期:2019-02-20 00:00:00
abstract::Excessive oxygen (O2) can cause tissue injury, scarring, aging, and even death. Our laboratory is studying O2-sensing pulmonary neuroendocrine cells (PNECs) and the PNEC-derived product gastrin-releasing peptide (GRP). Reactive oxygen species (ROS) generated from exposure to hyperoxia, ozone, or ionizing radiation (RT...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2014.00072
更新日期:2014-07-18 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:Background:This study aimed to assess the prevalence of picky eating among preschool children and to evaluate the association between eating behavior and growth, physical activity, development, and health status. Methods:A structured questionnaire was used to conduct a cross-sectional descriptive study of 300 primary ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2018.00022
更新日期:2018-02-12 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
abstract:Background:Given the positive influence of responsive caregiving on dietary habits in childhood, to raise awareness of caregivers regarding their behavior is crucial in multidisciplinary care on infant feeding. Objectives:To identify the most common responsive and non-responsive feeding practices in mothers of childre...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2017.00286
更新日期:2018-01-04 00:00:00
abstract::Background: Although most preterm infants breathe at birth, their respiratory drive is weak and supplemental oxygen is often needed to overcome hypoxia. This could in turn lead to hyperoxia. To reduce the risk of hyperoxia, currently an initial low oxygen concentration (21-30%) is recommended during stabilization at b...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00179
更新日期:2019-05-07 00:00:00
abstract::Objective: To investigate the relationship of overnutrition (obese and overweight) with severity of illness in children hospitalized with acute lower respiratory infections (ALRIs), frequency of viral coinfections and leptin levels. Methods: We studied 124 children <2 years old that were hospitalized for ALRI. Nutriti...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00044
更新日期:2020-02-18 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
pub_type: 杂志文章,评审
doi:10.3389/fped.2014.00058
更新日期:2014-06-20 00:00:00
abstract::Fetal sex is associated with striking differences during in utero development, fetal-to-neonatal transition, and postnatal morbidity and mortality. Male sex fetuses are apparently protected while in utero resulting in a higher secondary sex rate for males than for females. However, during fetal-to-neonatal transition ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00063
更新日期:2018-04-23 00:00:00
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::Asthma is no longer considered a single disease, but a common label for a set of heterogeneous conditions with shared clinical symptoms but associated with different cellular and molecular mechanisms. Several wheezing phenotypes coexist at preschool age but not all preschoolers with recurrent wheezing develop asthma a...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00320
更新日期:2019-07-31 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::A subset of patients with Ataxia-Telangiectasia (A-T) have dramatically reduced levels of IgG, IgA, and IgE with retained or elevated IgM levels. Several reports suggest that these A-T patients with a "hyper-IgM phenotype" (HIgM) suffer more clinical immunologic consequences than other A-T patients. The immunopatholog...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2019.00390
更新日期:2019-10-24 00:00:00
abstract::Introduction: Childhood obesity is occurring at alarming rates in both developed and developing countries. "Obesogenic" environmental factors must be associated with variants of different risk alleles to determine polygenic or common obesity, and their impact depends on different developmental stages.The interaction b...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00271
更新日期:2018-10-04 00:00:00
abstract::Emerging literature suggests that delayed identification of childhood asthma results in an increased risk of long-term and various morbidities compared to those with timely diagnosis and intervention, and yet this risk is still overlooked. Even when children and adolescents have a history of recurrent asthma-like symp...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00113
更新日期:2019-04-02 00:00:00
abstract::Pakistan is still fighting to overcome vaccine-preventable diseases (VPD). The vaccination coverage in rural children remains unsatisfactory amid various barriers including price, hesitancy, and low level of awareness. COVID-19 has decreased the immunization rate in Pakistan due to restricted movements, shortage of va...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.613433
更新日期:2020-12-10 00:00:00
abstract::During early post-natal life, neonates must adjust to the transition from the sheltered intra-uterine environment to the microbe-laden external world, wherein they encounter a constellation of antigens and the colonization by the microbiome. At this vulnerable stage, neonatal immune responses are considered immature a...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00005
更新日期:2020-01-28 00:00:00
abstract::Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype. In pediatric patients, the term polycystic kidney disease (PKD) commonly refers to two specific hereditary diseases, autosomal recessive polycystic kidney disease (ARP...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00077
更新日期:2017-04-19 00:00:00