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Frontiers in Pediatrics

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https://www.readbyqxmd.com/read/29226118/identification-of-a-novel-heterozygous-de-novo-7-bp-frameshift-deletion-in-pbx1-by-whole-exome-sequencing-causing-a-multi-organ-syndrome-including-bilateral-dysplastic-kidneys-and-hypoplastic-clavicles
#1
Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Thomas Meitinger, Julia Hoefele
Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many genes have been attributed to the genesis of this disorder. Recently, haploinsufficiency of PBX1 caused by microdeletions has been shown to result in bilateral renal hypoplasia and other organ malformations. Materials and methods: Here, we report on a 14-year-old male patient with congenital bilateral dysplastic kidneys, cryptorchidism, hypoplastic clavicles, developmental delay, impaired intelligence, and minor dysmorphic features...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29226117/pediatric-anti-n-methyl-d-aspartate-receptor-encephalitis-a-review-with-pooled-analysis-and-critical-care-emphasis
#2
REVIEW
Kenneth E Remy, Jason W Custer, Joshua Cappell, Cortney B Foster, Nan A Garber, L Kyle Walker, Liliana Simon, Dayanand Bagdure
Purpose: Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is being recognized with increasing frequency among children. Given the paucity of evidence to guide the critical care management of these complex patients, we provide a comprehensive review of the literature with pooled analysis of published case reports and case series. Methods: We performed a comprehensive literature search using PubMed, Scopus, EMBASE, and Web of Science for relevant published studies...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29209600/targeting-flt3-signaling-in-childhood-acute-myeloid-leukemia
#3
REVIEW
Amy N Sexauer, Sarah K Tasian
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 lymphoblastic leukemia, demonstrating continued need for new therapeutic approaches to decrease relapse risk and improve long-term survival. Mutations in the FMS-like tyrosine kinase-3 receptor gene (FLT3) occur in approximately 25% of children and adults with AML and are associated with particularly poor prognoses...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29209599/static-and-dynamic-ultrasound-imaging-to-visualize-the-bladder-bladder-neck-urethra-and-pelvic-floor-in-children-with-daytime-incontinence
#4
Rogier Schroeder, Keetje de Mooij, Luitzen Groen, Pieter Dik, Caroline Kuijper, Aart Klijn, Tom de Jong
No abstract text is available yet for this article.
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29209598/inflammatory-mediators-in-tracheal-aspirates-of-preterm-infants-participating-in-a-randomized-trial-of-permissive-hypercapnia
#5
Sarah Gentner, Mandy Laube, Ulrike Uhlig, Yang Yang, Hans W Fuchs, Jens Dreyhaupt, Helmut D Hummler, Stefan Uhlig, Ulrich H Thome
Background: Ventilator-induced lung injury is considered to be a main factor in the pathogenesis of bronchopulmonary dysplasia (BPD). Optimizing ventilator strategies may reduce respiratory morbidities in preterm infants. Permissive hypercapnia has been suggested to attenuate lung injury. We aimed to determine if a higher PCO2 target range results in less lung injury compared to the control target range and possibly reduces pro-inflammatory cytokines and acid sphingomyelinase (ASM) in tracheal aspirates (TA), which has not been addressed before...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29209597/meckel-gruber-syndrome-an-update-on-diagnosis-clinical-management-and-research-advances
#6
REVIEW
Verity Hartill, Katarzyna Szymanska, Saghira Malik Sharif, Gabrielle Wheway, Colin A Johnson
Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary cilium. Conditions that are caused by mutations in ciliary genes are collectively termed the ciliopathies, and MKS represents the most severe condition in this group of disorders. The primary cilium is a microtubule-based organelle, projecting from the apical surface of vertebrate cells. It acts as an "antenna" that receives and transduces chemosensory and mechanosensory signals, but also regulates diverse signaling pathways, such as Wnt and Shh, that have important roles during embryonic development...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29206244/corrigendum-glycemia-is-related-to-impaired-cerebrovascular-autoregulation-after-severe-pediatric-traumatic-brain-injury-a-retrospective-observational-study
#7
Adam M H Young, Hadie Adams, Joseph Donnelly, Mathew R Guilfoyle, Helen Fernandes, Mathew R Garnett, Marek Czosnyka, Peter Smielewski, Mark Plummer, Shruti Agrawal, Peter J Hutchinson
[This corrects the article on p. 205 in vol. 5, PMID: 28993802.].
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29201862/the-influence-of-different-caregivers-on-infant-growth-and-development-in-china
#8
Qinrui Li, Furong Liang, Weilan Liang, Jing Zhang, Manman Niu, Ying Han
Objective: An increasing number of parents in China ask grandparents or babysitters to care for their children. Modern parents are often the only child in their family because of China's One-Child Policy and thus may lack interaction with siblings. Accordingly, the present study aimed to explore whether different caregivers affect the physical and development of infants in China. Methods: In total, 2,514 infants were enrolled in our study. We assessed their weight-for-age, supine length-for-age, weight-for-length, occipital-frontal circumference, and Denver Developmental Screening Test (DDST) results and recorded their general parental information and their primary caregivers...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29184885/sudden-infant-death-syndrome-infection-prone-sleep-position-and-vagal-neuroimmunology
#9
Paul Nathan Goldwater
Recent findings suggest that infection (and sepsis) stand alone as the only plausible mechanism of causation of sudden infant death syndrome (SIDS) and accordingly achieves congruence with all clinicopathological and epidemiological findings. This review examines the role of infection in the pathogenesis of SIDS in the context of the major risk factor of prone sleep position. The study explores how sleep position could interact with the immune system and inflammatory response via vagal neural connections, which could play key roles in gut and immune homeostasis...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29181374/malignancy-induced-hypercalcemia-diagnostic-challenges
#10
Claire Hoyoux, Jacques Lombet, Corina Ramona Nicolescu
Hypercalcemia in children is a rare metabolic finding. The clinical picture is usually non-specific, and the etiology includes several entities (metabolic, nutritional, drug-induced, inflammatory, cancer-associated, or genetic) depending on the age at presentation, but severe hypercalcemia is associated mainly with malignancy in childhood and sepsis in neonates. Severe parathyroid hormone (PTH)-suppressed hypercalcemia is challenging and requires multidisciplinary diagnostic and therapeutic approaches to (i) confirm or rule out a malignant cause, (ii) treat it and its potentially dangerous complications...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29170734/the-prevalence-and-distribution-of-spina-bifida-in-a-single-major-referral-center-in-malaysia
#11
Adibah Sahmat, Renuka Gunasekaran, Siti W Mohd-Zin, Lohis Balachandran, Meow-Keong Thong, Julia P Engkasan, Dharmendra Ganesan, Zaliha Omar, Abu Bakar Azizi, Azlina Ahmad-Annuar, Noraishah M Abdul-Aziz
Background: The aim of this study is to review the medical history of patients with spina bifida, encompassing both aperta and occulta types born between the years 2003 until 2016, spanning a 13-year time period. We assessed each patient and maternal parent information, details of the defects, and conditions associated with the primary defect. We also include information on patients' ambulation and education level (where available). Methods: Data from the Department of Patient Information University of Malaya Medical Centre (UMMC), Malaysia was captured from spina bifida patients (ICD10: Q05 spina bifida)...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29164089/pulmonary-hypoplasia-caused-by-fetal-ascites-in-congenital-cytomegalovirus-infection-despite-fetal-therapy
#12
Kazumichi Fujioka, Ichiro Morioka, Kosuke Nishida, Mayumi Morizane, Kenji Tanimura, Masashi Deguchi, Kazumoto Iijima, Hideto Yamada
We report two cases of pulmonary hypoplasia due to fetal ascites in symptomatic congenital cytomegalovirus (CMV) infections despite fetal therapy. The patients died soon after birth. The pathogenesis of pulmonary hypoplasia in our cases might be thoracic compression due to massive fetal ascites as a result of liver insufficiency. Despite aggressive fetal treatment, including multiple immunoglobulin administration, which was supposed to diminish the pathogenic effects of CMV either by neutralization or immunomodulatory effects, the fetal ascites was uncontrollable...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29164088/step-initiation-deficits-in-children-with-faulty-posture-diagnosed-with-neurodevelopmental-disorders-during-infancy
#13
Magdalena Stania, Alina Sarat-Spek, Teresa Blacha, Beata Kazek, Kajetan J Słomka, Ewa Emich-Widera, Grzegorz Juras
Background: Early detection of movement deficits during step initiation will facilitate the selection of the optimal physiotherapy management strategy. The main aim of the study was to assess potential differences in step initiation between 5- and 6-year-old children with faulty posture who had been diagnosed with neurodevelopmental disorders during infancy and healthy children. Methods: The experimental group consisted of 19 children aged 5-6 years with faulty posture, who had been diagnosed with neurodevelopmental disorders during infancy and were given physiotherapy in the first year of their lives...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29164087/plasma-brain-derived-neurotrophic-factor-levels-in-newborn-infants-with-neonatal-abstinence-syndrome
#14
Lochan Subedi, Hong Huang, Amrita Pant, Philip M Westgate, Henrietta S Bada, John A Bauer, Peter J Giannone, Thitinart Sithisarn
Background: Brain-derived neurotrophic factor (BDNF) is a type of growth factor that promotes growth and survival of neurons. Fetal exposure to opiates can lead to postnatal withdrawal syndrome, which is referred as neonatal abstinence syndrome (NAS). Preclinical and clinical studies have shown an association between opiates exposure and alteration in BDNF expression in the brain and serum levels in adult. However, to date, there are no data available on the effects of opiate exposure on BDNF levels in infant who are exposed to opiates in utero and whether BDNF level may correlate with the severity of NAS...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29164086/a-novel-missense-mutation-of-the-nsd1-gene-associated-with-overgrowth-in-three-generations-of-an-italian-family-case-report-differential-diagnosis-and-review-of-mutations-of-nsd1-gene-in-familial-sotos-syndrome
#15
Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri
Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile) showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29164085/commentary-left-ventricular-hypertrophy-in-pediatric-hypertension-a-mini-review
#16
COMMENT
Guillermo A Perez Fernandez
No abstract text is available yet for this article.
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29164084/pretreatment-with-human-chorionic-gonadotropin-protects-the-neonatal-brain-against-the-effects-of-hypoxic-ischemic-injury
#17
Tammy Z Movsas, Rebecca L Weiner, M Banks Greenberg, David M Holtzman, Rafael Galindo
Introduction: Though the human fetus is exposed to placentally derived human chorionic gonadotropin (hCG) throughout gestation, the role of hCG on the fetal brain is unknown. Review of the available literature appears to indicate that groups of women with higher mean levels of hCG during pregnancy tend to have offspring with lower cerebral palsy (CP) risk. Given that newborn cerebral injury often precedes the development of CP, we aimed to determine whether hCG may protect against the neurodegenerative effects of neonatal brain injury...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29164083/ovotesticular-differences-of-sex-development-surgery-or-not-surgery-that-is-the-question
#18
Maria-Grazia Scarpa
No abstract text is available yet for this article.
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29164082/acute-septic-arthritis-of-the-knee-caused-by-kingella-kingae-in-a-5-year-old-cameroonian-boy
#19
Nawal El Houmami, Dimitri Ceroni, Karine Codjo Seignon, Jean-Christophe Pons, Cédric Lambert, Guillaume André Durand, Philippe Minodier, Léopold Lamah, Philippe Bidet, Jacques Schrenzel, Didier Raoult, Pierre-Edouard Fournier
Kingella kingae is an important cause of invasive infections in young children from Western countries. Although increasing reports indicate that this organism is the leading agent of bone and joint infections in early childhood, data on K. kingae infections from resource-limited settings are scarce, and none has yet been reported in Africa. We herein report the diagnostic and epidemiological investigations of the first case of K. kingae arthritis identified in a child from sub-Saharan Africa. A 5-year-old Cameroonian boy presented with a sudden painful limp which appeared in the course of a mild rhinopharyngitis...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29164081/delayed-development-of-feeding-skills-in-children-with-feeding-difficulties-cross-sectional-study-in-a-brazilian-reference-center
#20
Cláudia C Ramos, Priscila Maximino, Rachel H V Machado, Ana Beatriz Bozzini, Letícia W Ribeiro, Mauro Fisberg
Background: Delays in gross motor development, sensory processing issues, and organic and behavioral problems are known to interfere in the development of feeding skills (FS); and-therefore-in the success of the process of feeding a child. Children with feeding difficulties (FD) commonly present inadequacy of FS. Objectives: Assessment of five FS in Brazilian children with FD, and search of associations with types of FD. Methods: Cross-sectional study with 70 children below 10 years old...
2017: Frontiers in Pediatrics
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