Abstract:
:Introduction: Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1-2% of cases of neonatal cholestasis. Among them, cerebrotendinous xanthomatosis (CTX) is caused by mutations in the CYP27A1 gene resulting in the impairment of sterol 27-hydroxylase enzyme activity. Patients and Methods: Here we present the study on two siblings with neonatal cholestasis diagnosed with sterol 27-hydroxylase deficiency. The clinical, biochemical, histological, and molecular presentation at the time of diagnosis and detailed follow-up were described. An extensive overview of the literature regarding patients with sterol 27-hydroxylase deficiency presenting with neonatal cholestasis was also provided. Results: Patient 1 presented with cholestatic jaundice since 10 weeks of age and developed the end-stage liver disease requiring liver transplantation at 8 months of age but finally succumbed 3 years post-transplantation due to autoimmune hemolytic anemia and multiorgan failure development. Next-generation sequencing performed post mortem, revealed him to be homozygous for the known pathogenic splicing variant c.1184+1G>A in the CYP27A1 gene. Patient 2 (sibling) presented with cholestatic jaundice since the first day of life. Sanger sequencing of CYP27A1 revealed the same results. Chenodeoxycholic acid treatment was introduced just after diagnosis, at 4 months of age. Fourteen patients with sterol 27-hydroxylase deficiency presenting with neonatal cholestasis were reported in the literature, in most of them presenting as a self-limiting disease. Conclusions: An early recognition and treatment initiation in CTX is essential.
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
Lipiński P,Klaudel-Dreszler M,Ciara E,Jurkiewicz D,Płoski R,Cielecka-Kuszyk J,Socha P,Jankowska Idoi
10.3389/fped.2020.616582subject
Has Abstractpub_date
2021-01-13 00:00:00pages
616582issn
2296-2360journal_volume
8pub_type
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
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doi:10.3389/fped.2019.00324
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abstract::Non-cystic fibrosis bronchiectasis (NCFB) has gained renewed interest, due to its increasing health-care burden. Annual mortality statistics in England and Wales showed that under 1,000 people die from bronchiectasis each year, and this number is increasing by 3% yearly. Unfortunately, there is a severe lack of well-p...
journal_title:Frontiers in pediatrics
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doi:10.3389/fped.2017.00084
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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 ...
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pub_type: 杂志文章,评审
doi:10.3389/fped.2018.00063
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abstract:INTRODUCTION:Hypospadias is a male congenital condition where the opening of the urethral meatus is not located in the typical anatomical position. It has been a challenge for empirical studies to ascertain the level of concordance of opinion among parents and urologists with regard to surgical outcomes according to hy...
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abstract::Thrombocytopenia and pancytopenia, occurring in patients with Fanconi anemia (FA), are interpreted either as progression to bone marrow failure or as developing myelodysplasia. On the other hand, immune thrombocytopenia (ITP) represents an acquired and often self-limiting benign hematologic disorder, associated with p...
journal_title:Frontiers in pediatrics
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journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2019.00487
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abstract::Abdominal lipoblastomas are uncommon soft tissue tumors in children and rarely arise from the mesentery. Due to intraabdominal location and slow growth, these masses can go unnoticed for long periods of time and often found on surgical exploration. We present a case of a 12-year-old male with years of abdominal disten...
journal_title:Frontiers in pediatrics
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doi:10.3389/fped.2020.00404
更新日期:2020-07-24 00:00:00
abstract::Background: The impact of a sedentary and unhealthy lifestyle on cardiovascular health is well-documented, however the current obesity and hypertension trends among children is concerning. The ExAMIN Youth SA study aims to investigate the impact of lifestyle behaviors (physical fitness/activity, dietary intake and psy...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00212
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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
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abstract::Background: Guillain-Barre syndrome is the most common cause of acute flaccid paralysis worldwide since the eradication of poliomyelitis. Severe cases may require intensive care and mechanical ventilation. Purpose: was to study pediatric patients with severe GBS requiring intensive care unit (ICU) admission, to assess...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00378
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abstract::Background: Histological chorioamnionitis (HCA) is an infection/inflammation of fetal membranes and complicates 5.2-28.5% of all live births. Exposure to HCA can have long-term consequences including abnormal neurodevelopment and an increased risk for allergic disorders and asthma later in childhood. HCA may incite ep...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2020.00437
更新日期:2020-08-04 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::Isoflavones are dietary phytoestrogens commonly found in soy-based products. The widespread presence of isoflavones in soy infant formula and breast milk may have long-lasting effects on the development of sex hormone-sensitive organs like the skeleton. Animal early-life programming models are suitable for testing the...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2020.00563
更新日期:2020-09-11 00:00:00
abstract::Introduction: Hospital response to the COVID-19 outbreak has involved the cancellation of elective, deferrable surgeries throughout Europe in order to ensure capacity for emergent surgery and a selection of elective but non-deferrable surgeries. The purpose of this document is to propose technical strategies to assist...
journal_title:Frontiers in pediatrics
pub_type:
doi:10.3389/fped.2020.00259
更新日期:2020-05-07 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::The association between atopic diseases is well known, and previous research has shown that having one atopic disease can predispose to having another. The link between asthma and food allergy has been well researched, but the exact relationship between the two atopic conditions is not fully understood. Food allergic ...
journal_title:Frontiers in pediatrics
pub_type: 杂志文章,评审
doi:10.3389/fped.2017.00089
更新日期:2017-05-09 00:00:00
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journal_title:Frontiers in pediatrics
pub_type: 杂志文章
doi:10.3389/fped.2019.00192
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pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.3389/fped.2020.00510
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doi:10.3389/fped.2020.00497
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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...
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pub_type: 杂志文章
doi:10.3389/fped.2018.00244
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pub_type: 杂志文章
doi:10.3389/fped.2016.00130
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doi:10.3389/fped.2018.00104
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