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Molecular and Cellular Pediatrics

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https://www.readbyqxmd.com/read/30430274/gene-correction-of-hbb-mutations-in-cd34-hematopoietic-stem-cells-using-cas9-mrna-and-ssodn-donors
#1
Justin S Antony, Ngadhnjim Latifi, A K M Ashiqul Haque, Andrés Lamsfus-Calle, Alberto Daniel-Moreno, Sebastian Graeter, Praveen Baskaran, Petra Weinmann, Markus Mezger, Rupert Handgretinger, Michael S D Kormann
BACKGROUND: β-Thalassemia is an inherited hematological disorder caused by mutations in the human hemoglobin beta (HBB) gene that reduce or abrogate β-globin expression. Although lentiviral-mediated expression of β-globin and autologous transplantation is a promising therapeutic approach, the risk of insertional mutagenesis or low transgene expression is apparent. However, targeted gene correction of HBB mutations with programmable nucleases such as CRISPR/Cas9, TALENs, and ZFNs with non-viral repair templates ensures a higher safety profile and endogenous expression control...
November 14, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/30402806/chemotherapy-and-the-pediatric-brain
#2
REVIEW
Chrysanthy Ikonomidou
Survival rates of children with cancer are steadily increasing. This urges our attention to neurocognitive and psychiatric outcomes, as these can markedly influence the quality of life of these children. Neurobehavioral morbidity in childhood cancer survivors affects diverse aspects of cognitive function, which can include attention, memory, processing speed, intellect, academic achievement, and emotional health. Reasons for neurobehavioral morbidity are multiple with one major contributor being chemotherapy-induced central nervous system (CNS) toxicity...
November 6, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/30255357/the-role-of-s100-proteins-in-the-pathogenesis-and-monitoring-of-autoinflammatory-diseases
#3
REVIEW
Dirk Holzinger, Dirk Foell, Christoph Kessel
S100A8/A9 and S100A12 are released from activated monocytes and granulocytes and act as proinflammatory endogenous toll-like receptor (TLR)4-ligands. S100 serum concentrations correlate with disease activity, both during local and systemic inflammatory processes. In some autoinflammatory diseases such as familial Mediterranean fever (FMF) or systemic juvenile idiopathic arthritis (SJIA), dysregulation of S100 release may be involved in the pathogenesis. Moreover, S100 serum levels are a valuable supportive tool in the diagnosis of SJIA in fever of unknown origin...
September 25, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/30171420/precision-medicine-in-pediatric-oncology
#4
REVIEW
Stefan E G Burdach, Mike-Andrew Westhoff, Maximilian Felix Steinhauser, Klaus-Michael Debatin
Outcome in treatment of childhood cancers has improved dramatically since the 1970s. This success was largely achieved by the implementation of cooperative clinical research trial groups that standardized and developed treatment of childhood cancer. Nevertheless, outcome in certain types of malignancies is still unfavorable. Intensification of conventional chemotherapy and radiotherapy improved outcome only marginally at the cost of acute and long-term side effects. Hence, it is necessary to develop targeted therapy strategies...
August 31, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29616417/anti-inflammatory-monocytes-interplay-of-innate-and-adaptive-immunity
#5
REVIEW
Georg Varga, Dirk Foell
Monocytes are central to our health as they contribute to both hemispheres of our immune system, the innate and the adaptive arm. Sensing signals from the outside world, monocytes govern the innate immunity by initiating inflammation, e.g., through production of IL-1β. Uncontrolled and sustained inflammation, however, leads to auto-inflammatory syndromes and sometimes to autoimmune diseases. Monocytes can be a driving force for the establishment of such diseases when their ability to also contribute to the resolution of inflammation is impaired...
April 3, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29560535/intrauterine-growth-restriction-impact-on-cardiovascular-diseases-later-in-life
#6
REVIEW
Carlos Menendez-Castro, Wolfgang Rascher, Andrea Hartner
Intrauterine growth restriction (IUGR) is a fetal pathology which leads to increased risk for certain neonatal complications. Furthermore, clinical and experimental studies revealed that IUGR is associated with a significantly higher incidence of metabolic, renal and cardiovascular diseases (CVD) later in life. One hypothesis for the higher risk of CVD after IUGR postulates that IUGR induces metabolic alterations that then lead to CVD.This minireview focuses on recent studies which demonstrate that IUGR is followed by early primary cardiovascular alterations which may directly progress to CVD later in life...
March 20, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29411179/cish-promoter-polymorphism-effects-on-t-cell-cytokine-receptor-signaling-and-type-1-diabetes-susceptibility
#7
Julia Seyfarth, Heinz Ahlert, Joachim Rosenbauer, Christina Baechle, Michael Roden, Reinhard W Holl, Ertan Mayatepek, Thomas Meissner, Marc Jacobsen
BACKGROUND: Impaired regulatory T cell immunity plays a central role in the development of type 1 diabetes (T1D). Interleukin-2 receptor (IL-2R) signaling is essential for regulatory T cells (TREG ), and cytokine-inducible SH2-containing protein (CIS) regulates IL-2R signaling as a feedback inhibitor. Previous studies identified association of CISH promoter region single nucleotide polymorphisms (SNPs) with susceptibility to infectious diseases. METHODS: Here we analyzed allele frequencies of three CISH SNPs (i...
February 6, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29411170/the-potential-of-antisense-oligonucleotide-therapies-for-inherited-childhood-lung-diseases
#8
REVIEW
Kelly M Martinovich, Nicole C Shaw, Anthony Kicic, André Schultz, Sue Fletcher, Steve D Wilton, Stephen M Stick
Antisense oligonucleotides are an emerging therapeutic option to treat diseases with known genetic origin. In the age of personalised medicines, antisense oligonucleotides can sometimes be designed to target and bypass or overcome a patient's genetic mutation, in particular those lesions that compromise normal pre-mRNA processing. Antisense oligonucleotides can alter gene expression through a variety of mechanisms as determined by the chemistry and antisense oligomer design. Through targeting the pre-mRNA, antisense oligonucleotides can alter splicing and induce a specific spliceoform or disrupt the reading frame, target an RNA transcript for degradation through RNaseH activation, block ribosome initiation of protein translation or disrupt miRNA function...
February 6, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29352427/preserved-in-vitro-immunoreactivity-in-children-receiving-long-term-immunosuppressive-therapy-due-to-inflammatory-bowel-disease-or-autoimmune-hepatitis
#9
Teresa Schleker, Eva-Maria Jacobsen, Benjamin Mayer, Gudrun Strauss, Klaus-Michael Debatin, Carsten Posovszky
BACKGROUND: Children with inflammatory bowel disease (IBD) or autoimmune hepatitis (AIH) are at risk for severe infections. This is partially a result of their chronic disease condition but, moreover, a side effect of their immunosuppressive therapy. Currently, vaccinations with live vaccines are regarded as contraindicated under immunosuppressive therapy, mainly because of concerns about side effects and a lack of data showing an adequate immune reaction. As there is no systematic study on the individual immunoreactivity under immunosuppressive therapy in this patient group, we analyzed the lymphocyte subgroups and immunoreactivity of lymphocytes in children with IBD or AIH with and without immunosuppressive therapy in vitro...
January 19, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29218481/concepts-for-a-therapeutic-prolongation-of-nephrogenesis-in-preterm-and-low-birth-weight-babies-must-correspond-to-structural-functional-properties-in-the-nephrogenic-zone
#10
REVIEW
Will W Minuth
Numerous investigations are dealing with anlage of the mammalian kidney and primary development of nephrons. However, only few information is available about the last steps in kidney development leading at birth to a downregulation of morphogen activity in the nephrogenic zone and to a loss of stem cell niches aligned beyond the organ capsule. Surprisingly, these natural changes in the developmental program display similarities to processes occurring in the kidneys of preterm and low-birth-weight babies. Although those babies are born at a time with a principally intact nephrogenic zone and active niches, a high proportion of them suffers on impairment of nephrogenesis resulting in oligonephropathy, formation of atypical glomeruli, and immaturity of parenchyma...
December 7, 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/28685269/the-molecular-pathophysiology-of-chronic-non-bacterial-osteomyelitis-cno-a-systematic-review
#11
REVIEW
Sigrun Ruth Hofmann, Franz Kapplusch, Katrin Mäbert, Christian Michael Hedrich
Chronic non-bacterial osteomyelitis (CNO) belongs to the growing spectrum of autoinflammatory diseases and primarily affects the skeletal system. Peak onset ranges between 7 and 12 years of age. The clinical spectrum of CNO covers sometimes asymptomatic inflammation of single bones at the one end and chronically active or recurrent multifocal osteitis at the other.Despite the intense scientific efforts, the exact molecular mechanisms of CNO remain unknown. Recent data suggest CNO as a genetically complex disorder with dysregulated TLR4/MAPK/inflammasome signaling cascades resulting in an imbalance between pro- and anti-inflammatory cytokine expression, leading to osteoclast activation and osteolytic lesions...
December 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/28508352/pediatric-precursor-b-acute-lymphoblastic-leukemia-are-t-helper-cells-the-missing-link-in-the-infectious-etiology-theory
#12
REVIEW
Simone Bürgler, David Nadal
Precursor B acute lymphoblastic leukemia (BCP-ALL), the most common childhood malignancy, arises from an expansion of malignant B cell precursors in the bone marrow. Epidemiological studies suggest that infections or immune responses to infections may promote such an expansion and thus BCP-ALL development. Nevertheless, a specific pathogen responsible for this process has not been identified. BCP-ALL cells critically depend on interactions with the bone marrow microenvironment. The bone marrow is also home to memory T helper (Th) cells that have previously expanded during an immune response in the periphery...
December 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/28432664/human-perinatal-immunity-in-physiological-conditions-and-during-infection
#13
REVIEW
Gijs T J van Well, Leonie A Daalderop, Tim Wolfs, Boris W Kramer
The intrauterine environment was long considered sterile. However, several infectious threats are already present during fetal life. This review focuses on the postnatal immunological consequences of prenatal exposure to microorganisms and related inflammatory stimuli. Both the innate and adaptive immune systems of the fetus and neonate are immature, which makes them highly susceptible to infections. There is good evidence that prenatal infections are a primary cause of preterm births. Additionally, the association between antenatal inflammation and adverse neonatal outcomes has been well established...
December 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/28150141/role-of-second-hand-smoke-shs-induced-proteostasis-autophagy-impairment-in-pediatric-lung-diseases
#14
Neel Patel, Christopher D Trumph, Manish Bodas, Neeraj Vij
BACKGROUND: Exposure to second-hand tobacco smoke (SHS) is one of the prime risk factors for chronic lung disease development. Smoking during pregnancy may lead to birth defects in the newborn that include pulmonary dysfunction, increased susceptibility to opportunistic pathogens, or initiation of childhood respiratory manifestations such as bronchopulmonary dysplasia (BPD). Moreover, exposure to SHS in early childhood can have negative impact on lung health, although the exact mechanisms are unclear...
December 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/28101838/renal-consequences-of-preterm-birth
#15
REVIEW
Amelie Stritzke, Sumesh Thomas, Harish Amin, Christoph Fusch, Abhay Lodha
BACKGROUND: The developmental origin of health and disease concept identifies the brain, cardiovascular, liver, and kidney systems as targets of fetal adverse programming with adult consequences. As the limits of viability in premature infants have been pushed to lower gestational ages, the long-term impact of prematurity on kidneys still remains a significant burden during hospital stay and beyond. OBJECTIVES: The purpose of this study is to summarize available evidence, mechanisms, and short- and long-term renal consequences of prematurity and identify nephroprotective strategies and areas of uncertainty...
December 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/28097632/acquisition-and-adaptation-of-the-airway-microbiota-in-the-early-life-of-cystic-fibrosis-patients
#16
REVIEW
Sébastien Boutin, Alexander H Dalpke
Cystic fibrosis (CF) is a genetic disease in which bacterial infections of the airways play a major role in the long-term clinical outcome. In recent years, a number of next-generation sequencing (NGS)-based studies aimed at deciphering the structure and composition of the airways' microbiota. It was shown that the nasal cavity of CF patients displays dysbiosis early in life indicating a failure in the first establishment of a healthy microbiota. In contrast, within the conducting and lower airways, the establishment occurs normally first, but is sensitive to future dysbiosis including chronic infections with classical pathogens in later life...
December 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29116547/the-bpd-trio-interaction-of-dysregulated-pdgf-vegf-and-tgf-signaling-in-neonatal-chronic-lung-disease
#17
REVIEW
Prajakta Oak, Anne Hilgendorff
The development of neonatal chronic lung disease (nCLD), i.e., bronchopulmonary dysplasia (BPD) in preterm infants, significantly determines long-term outcome in this patient population. Risk factors include mechanical ventilation and oxygen toxicity impacting on the immature lung resulting in impaired alveolarization and vascularization. Disease development is characterized by inflammation, extracellular matrix remodeling, and apoptosis, closely intertwined with the dysregulation of growth factor signaling...
November 7, 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29101573/transcatheter-atrial-septal-defect-closure-in-an-infant-body-weight-6-4-kg-using-the-gore-cardioform-septal-occluder-gcso
#18
Roman Scheidmann, Thomas Paul, Matthias Sigler
INTRODUCTION: Transcatheter closure has become the treatment of choice for secundum atrial septal defects (ASD II), but particularly in small children, there is concern regarding procedure-related complications. CASE DESCRIPTION: We report on a 10-month-old infant, body weight of 6.4 kg, with a large ASD who was referred for failure to thrive and dyspnea on exertion. Echocardiography showed two neighboring ASDs centrally located within an atrial septum with a length of 27 mm resulting in significant left-to-right shunting...
November 3, 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29101506/estimated-prevalence-of-potentially-damaging-variants-in-the-leptin-gene
#19
Adriana Nunziata, Guntram Borck, Jan-Bernd Funcke, Katja Kohlsdorf, Stephanie Brandt, Anke Hinney, Barbara Moepps, Peter Gierschik, Klaus-Michael Debatin, Pamela Fischer-Posovszky, Martin Wabitsch
BACKGROUND: Mutations in the leptin gene (LEP) can alter the secretion or interaction of leptin with its receptor, leading to extreme early-onset obesity. The purpose of this work was to estimate the prevalence of heterozygous and homozygous mutations in the leptin gene with the help of the Exome Aggregation Consortium (ExAC) database ( http://exac.broadinstitute.org/about ). RESULTS: The ExAC database encompasses exome sequencing data from 60,706 individuals. We searched for listed leptin variants and identified 36 missense, 1 in-frame deletion, and 3 loss-of-function variants...
November 3, 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/28983852/autism-spectrum-disorder-and-li-fraumeni-syndrome-purely-coincidental-or-mechanistically-associated
#20
Michaela Kuhlen, Julia Taeubner, Dagmar Wieczorek, Arndt Borkhardt
BACKGROUND: Autism spectrum disorders (ASDs) are neurodevelopmental disorders with impaired social interactions and communication and restrictive, repetitive patterns of behaviors, interests, and activities. A recent epidemiological study suggests that children with ASD might have an increased cancer risk. CASE PRESENTATION: The 14.5-year-old boy, previously diagnosed with ASD, was referred with persistent bone pain. Diagnostic work-up confirmed diagnosis of acute lymphoblastic leukemia (ALL); cytogenetic analysis revealed low hypodiploid karyotype with a mutation (c...
October 5, 2017: Molecular and Cellular Pediatrics
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