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Tipping the balance in autoimmunity: are regulatory t cells the cause, the cure, or both? Mol. Cell. Pediatr. Pub Date : 2024-03-20 Matthias Hardtke-Wolenski, Sybille Landwehr-Kenzel
Regulatory T cells (Tregs) are a specialized subgroup of T-cell lymphocytes that is crucial for maintaining immune homeostasis and preventing excessive immune responses. Depending on their differentiation route, Tregs can be subdivided into thymically derived Tregs (tTregs) and peripherally induced Tregs (pTregs), which originate from conventional T cells after extrathymic differentiation at peripheral
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Adverse effects of remdesivir for the treatment of acute COVID-19 in the pediatric population: a retrospective observational study Mol. Cell. Pediatr. Pub Date : 2024-02-21 Abigail Schulz, Natalie Huynh, Margaret Heger, Mustafa Bakir
Although the severity of coronavirus disease 2019 (COVID-19) tends to be lower in children, it can still lead to severe illness, particularly among those with chronic medical conditions. While remdesivir (RDV) is one of the few approved antiviral treatments for COVID-19 in children in many countries, the available data on the safety of RDV in this population is limited. To address this knowledge gap
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The role of regulatory B cells in immune regulation and childhood allergic asthma Mol. Cell. Pediatr. Pub Date : 2024-01-04 Caroline Vanessa Kliem, Bianca Schaub
As the most common chronic disease in childhood, asthma displays a major public health problem worldwide with the incidence of those affected rising. As there is currently no cure for allergic asthma, it is mandatory to get a better understanding of the underlying molecular mechanism. By producing IgE antibodies upon allergen contact, B cells play a pivotal role in allergic asthma. Besides that, IL-10-secreting
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Phagocytic cell death leads to enhanced release of pro-inflammatory S100A12 in familial Mediterranean fever Mol. Cell. Pediatr. Pub Date : 2023-12-13 G. Varga, S. Schleifenbaum, U. Koenig, J. Waldkirch, C. Hinze, C. Kessel, W. Geluk, T. Pap, Elke Lainka, Tilmann Kallinich, D. Foell, H. Wittkowski
Familial Mediterranean fever (FMF) is a prototypical autoinflammatory syndrome associated with phagocytic cell activation. Pyrin mutations are the genetic basis of this disease, and its expression has been shown in monocytes, granulocytes, dendritic cells, and synovial fibroblasts. Pyrin functions as a cytosolic pattern recognition receptor and forms a distinct pyrin inflammasome. The phagocyte-specific
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Installation of the developing nephron in the fetal human kidney during advanced pregnancy Mol. Cell. Pediatr. Pub Date : 2023-11-28 Will W. Minuth
The kidneys of preterm and low birth weight babies reflect vulnerability, since several noxae can evoke the termination of nephron formation. This again leads to oligonephropathy with severe consequences for health in the later life. While the clinical parameters have been intensely investigated, only little is known about the initial traces left by the noxae. For the fetal human kidney, solely the
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Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective Mol. Cell. Pediatr. Pub Date : 2023-11-15 Michelle A. Farrar, Loudella Calotes-Castillo, Ranil De Silva, Peter Barclay, Lani Attwood, Julie Cini, Monica Ferrie, Didu S. Kariyawasam
Onasemnogene abeparvovec has been life-changing for children with spinal muscular atrophy (SMA), signifying the potential and progress occurring in gene- and cell-based therapies for rare genetic diseases. Hence, it is important that clinicians gain knowledge and understanding in gene therapy-based treatment strategies for SMA. In this review, we describe the development and translation of onasemnogene
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Relevance and consequence of chronic inflammation for obesity development Mol. Cell. Pediatr. Pub Date : 2023-11-14 Lisa Ruck, Susanna Wiegand, Peter Kühnen
Increasing prevalence of morbid obesity accompanied by comorbidities like type 2 diabetes mellitus (T2DM) led to a demand for improving therapeutic strategies and pharmacological intervention options. Apart from genetics, inflammation processes have been hypothesized to be of importance for the development of obesity and related aspects like insulin resistance. Within this review, we provide an overview
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B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C) Mol. Cell. Pediatr. Pub Date : 2023-10-28 Adam Klocperk, Marketa Bloomfield, Zuzana Parackova, Ludovic Aillot, Jiri Fremuth, Lumir Sasek, Jan David, Filip Fencl, Aneta Skotnicova, Katerina Rejlova, Martin Magner, Ondrej Hrusak, Anna Sediva
Multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C) is a late complication of pediatric COVID-19, which follows weeks after the original SARS-CoV-2 infection, regardless of its severity. It is characterized by hyperinflammation, neutrophilia, lymphopenia, and activation of T cells with elevated IFN-γ. Observing the production of autoantibodies and parallels with systemic
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A novel serum calprotectin (MRP8/14) particle-enhanced immuno-turbidimetric assay (sCAL turbo) helps to differentiate systemic juvenile idiopathic arthritis from other diseases in routine clinical laboratory settings Mol. Cell. Pediatr. Pub Date : 2023-10-25 Dirk Foell, Melanie Saers, Carolin Park, Ninna Brix, Mia Glerup, Christoph Kessel, Helmut Wittkowski, Claas Hinze, Lillemor Berntson, Anders Fasth, Charlotte Myrup, Ellen Nordal, Marite Rygg, Henrik Hasle, Birgitte Klug Albertsen, Troels Herlin, Dirk Holzinger, Christian Niederberger, Bernhard Schlüter
Differential diagnosis in children with signs of unprovoked inflammation can be challenging. In particular, differentiating systemic juvenile idiopathic arthritis (SJIA) from other diagnoses is difficult. We have recently validated the complex of myeloid-related proteins 8/14 (MRP8/14, also known as S100A8/A9 complex or serum calprotectin) as a helpful biomarker supporting the diagnosis of SJIA. The
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What do we know about the sleep effects of caffeine used to treat apnoea of prematurity? A systematic review of the literature Mol. Cell. Pediatr. Pub Date : 2023-09-18 Ana Renata Pinto de Toledo, Higor Arruda Caetano, Jovito Adiel Skupien, Carina Rodrigues Boeck, Humberto Fiori, Rosane Souza da Silva
Scientific scrutiny has proved the safety and benefits of caffeine to treat apnoea of prematurity (AOP). However, there is no consensus on the effects of this treatment on sleep, especially considering the key role of adenosine and early brain development for sleep maturation. We systematically reviewed studies with sleep as a primary and/or secondary outcome or any mention of sleep parameters in the
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Retinopathy of prematurity: from oxygen management to molecular manipulation Mol. Cell. Pediatr. Pub Date : 2023-09-15 Jonathan Woods, Susmito Biswas
Retinopathy of prematurity (ROP) is a vasoproliferative disorder of the premature retina with the potential to progress to extraretinal neovascularisation. This review serves as an introduction to retinopathy of prematurity (ROP), outlining key parts of ROP pathophysiology, diagnosis and treatment. ROP is traditionally diagnosed by indirect ophthalmoscopy and classified using anatomical zones, stages
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Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation Mol. Cell. Pediatr. Pub Date : 2023-09-13 Vasil Toskov, Stephan Ehl
Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses and impaired immune homeostasis. A subgroup of these disorders frequently presents with autoimmunity and lymphoproliferation (ALPID phenotype). After the initial description of the genetic basis of autoimmune lymphoproliferative syndrome (ALPS) more than
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Characterization of adolescents with functional respiratory disorders and prior history of SARS-CoV-2 Mol. Cell. Pediatr. Pub Date : 2023-09-12 Sebastian Felix Nepomuk Bode, Anja Schwender, Monika Toth, Christine Kaeppler-Schorn, Ute Siebeneich, Joachim Freihorst, Ales Janda, Dorit Fabricius
The SARS-CoV-2 pandemic has caused significant pulmonary morbidity and mortality in the adult population. Children and adolescents typically show milder symptoms; however, a relevant proportion of them report persistent pulmonary symptoms even after mild SARS-CoV-2 infection. Functional respiratory disorders may be relevant differential diagnoses of persistent dyspnea. This study aims at characterizing
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Childhood asthma phenotypes and endotypes: a glance into the mosaic Mol. Cell. Pediatr. Pub Date : 2023-08-30 Francesco Foppiano, Bianca Schaub
Asthma is an inflammatory lung disease that constitutes the most common noncommunicable chronic disease in childhood. Childhood asthma shows large heterogeneity regarding onset of disease, symptoms, severity, prognosis, and response to therapy. Evidence suggests that this variability is due to distinct pathophysiological mechanisms, which has led to an exhaustive research effort to understand and characterize
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Sex differences in long-term kidney fibrosis following neonatal nephron loss during ongoing nephrogenesis Mol. Cell. Pediatr. Pub Date : 2023-08-25 Carlos Menendez-Castro, Nada Cordasic, Fabian B. Fahlbusch, Joachim Woelfle, Karl F. Hilgers, Andrea Hartner
Clinical studies suggest that female sex plays a protective role in the development and progression of kidney disease. Recent experimental studies indicate that in male rats early nephron loss under ongoing nephrogenesis is accompanied by severe long-term sequelae. In humans, nephron formation occurs mainly in the third trimester, ceasing with 36 weeks of gestation. Due to perinatal complications,
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Real-world evidence study on tolerance and growth in infants fed an infant formula with two human milk oligosaccharides vs mixed fed and exclusively breastfed infants Mol. Cell. Pediatr. Pub Date : 2023-08-19 Frank Jochum, Martina Meyer-Krott, Tina Hübler, Maja Lorenz, Raffi Bedikian, Joseph Zakarian, Anja Litzka, Guido Judex, Holger Hertzberg, Daniela Klee, Lothar Maurer, Martin Schacht, Adnan Al-Radhi, Jan Maier, Alexander Kröckel, Christian Faustmann, Luca Lavalle, Samir Dahbane
Human milk oligosaccharides (HMOs) are important components of human milk having diverse functions in the development of infants. Randomized controlled trials (RCTs) have demonstrated that infant formulas with the HMOs 2′-fucosyllactose (2′FL) and lacto-N-neotetraose (LNnT) are safe, well-tolerated, and support normal growth. This study aimed to generate real-world evidence (RWE) on growth and gastrointestinal
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Metamizole-induced agranulocytosis (MIA): a mini review Mol. Cell. Pediatr. Pub Date : 2023-08-17 Markos K. Tomidis Chatzimanouil, Ines Goppelt, Yvonne Zeissig, Ulrich J. Sachs, Martin W. Laass
Metamizole is an analgesic, antipyretic, and spasmolytic drug in Germany only approved for the treatment of severe pain or high fever that does not respond to other measures. In recent years, an increased use has been described among both adults and children, often against the approved indication. The most important side effect of metamizole is the development of agranulocytosis (neutrophil count < 500/µL)
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Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus (jSLE) Mol. Cell. Pediatr. Pub Date : 2023-08-09 Valentina Natoli, Amandine Charras, Gabriele Hahn, Christian M. Hedrich
Systemic lupus erythematosus (SLE) is a rare autoimmune/inflammatory disease with significant morbidity and mortality. Approximately 15–20% of SLE patients develop the disease during childhood or adolescence (juvenile-onset SLE/jSLE). Patients with jSLE exhibit more variable and severe disease when compared to patients with disease-onset during adulthood. Neuropsychiatric (NP) involvement is a clinically
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Perinatal origins of bronchopulmonary dysplasia—deciphering normal and impaired lung development cell by cell Mol. Cell. Pediatr. Pub Date : 2023-04-18 I. Mižíková, B. Thébaud
Bronchopulmonary dysplasia (BPD) is a multifactorial disease occurring as a consequence of premature birth, as well as antenatal and postnatal injury to the developing lung. BPD morbidity and severity depend on a complex interplay between prenatal and postnatal inflammation, mechanical ventilation, and oxygen therapy as well as associated prematurity-related complications. These initial hits result
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New insights into the immune functions of podocytes: the role of complement Mol. Cell. Pediatr. Pub Date : 2023-04-15 Valentina Bruno, Anne Katrin Mühlig, Jun Oh, Christoph Licht
Podocytes are differentiated epithelial cells which play an essential role to ensure a normal function of the glomerular filtration barrier (GFB). In addition to their adhesive properties in maintaining the integrity of the filtration barrier, they have other functions, such as synthesis of components of the glomerular basement membrane (GBM), production of vascular endothelial growth factor (VEGF)
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Modelling human lower urinary tract malformations in zebrafish Mol. Cell. Pediatr. Pub Date : 2023-03-29 Caroline M. Kolvenbach, Gabriel C. Dworschak, Johanna M. Rieke, Adrian S. Woolf, Heiko Reutter, Benjamin Odermatt, Alina C. Hilger
Advances in molecular biology are improving our understanding of the genetic causes underlying human congenital lower urinary tract (i.e., bladder and urethral) malformations. This has recently led to the identification of the first disease-causing variants in the gene BNC2 for isolated lower urinary tract anatomical obstruction (LUTO), and of WNT3 and SLC20A1 as genes implicated in the pathogenesis
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Umbilical catheter placement aided by coronary guidewires Mol. Cell. Pediatr. Pub Date : 2023-03-14 Katarzyna Gendera, Stanimir Georgiev, Peter Ewert, Stefan Eckstein, Christoph Fusch, Niels Rochow
Catheterization of the umbilical vessels has proven to be an effective and relatively rapid method for gaining central vascular access in neonates. However, it can be technically difficult, the procedure may last 30 min or longer, and it can be associated with complications in some patients. We suggest using a coronary guidewire during catheterization of umbilical vessels to support the placement of
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Non-invasive pediatric cardiac imaging—current status and further perspectives Mol. Cell. Pediatr. Pub Date : 2022-12-28 Beer, Meinrad, Schönnagel, Björn, Herrmann, Jochen, Klömpken, Steffen, Schaal, Matthias, Kaestner, Michael, Apitz, Christian, Brunner, Horst
Non-invasive cardiac imaging has a growing role in diagnosis, differential diagnosis, therapy planning, and follow-up in children and adolescents with congenital and acquired cardiac diseases. This review is based on a systematic analysis of international peer-reviewed articles and additionally presents own clinical experiences. It provides an overview of technical advances, emerging clinical applications
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Adsorption of insulin onto neonatal infusion sets: should intravenous administration of insulin to treat hyperglycemia in preterm babies on the NICU be proceeded by priming of the intravenous system, adding of albumin, or non-priming to get to a stable insulin dose? Mol. Cell. Pediatr. Pub Date : 2022-12-21 Mian, Paola, Bolhuis, Mathieu S., Maurer, J. Marina, van Stuijvenberg, Margriet
Insulin is used to treat neonatal hyperglycaemia when blood glucose concentrations are consistently high, and to treat neonatal diabetes. Within this brief report, a review of the existing literature is conducted to determine if intravenous administration of insulin should be proceeded by priming of the intravenous system, adding of albumin, or non-priming to get a stable insulin dose. Within this
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Molecular detection and characterization of Shigella spp. harboring extended-spectrum β-lactamase genes in children with diarrhea in northwest Iran Mol. Cell. Pediatr. Pub Date : 2022-12-08 Sabour, Sahar, Teimourpour, Amir, Mohammadshahi, Jafar, Peeridogaheh, Hadi, Teimourpour, Roghayeh, Azimi, Taher, Hosseinali, Zahra
Shigellosis is one of the acute bowel infections and remains a serious public health problem in resource-poor countries. The present study aimed to survey the distribution of extended-spectrum β-lactamase (ESBL)-producing Shigella strains isolated from patients with diarrhea in northwest Iran. In the present cross-sectional study, from January 2019 to December 2020, 1280 fecal samples were collected
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Subcutaneous fat necrosis in newborns: a systematic literature review of case reports and model of pathophysiology Mol. Cell. Pediatr. Pub Date : 2022-11-24 Frank, Leonie, Brandt, Stephanie, Wabitsch, Martin
Subcutaneous fat necrosis of the newborn (SCFN) is a rare disease occurring in the first days of life. Characteristically, the infants show hard nodules in subcutaneous tissue, purple or erythematous in color and appear on the upper back, cheeks, buttocks and limbs. In most cases, SCFN is a self-limiting disease, as the nodules disappear in up to 6 months. A severe complication associated with SCFN
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The interstitium at the developing nephron in the fetal kidney during advanced pregnancy — a microanatomical inventory Mol. Cell. Pediatr. Pub Date : 2022-08-26 Minuth, Will W.
A series of noxae can evoke the termination of nephron formation in preterm and low birth weight babies. This results in oligonephropathy with severe consequences for health in the later life. Although the clinical parameters have been extensively investigated, little is known about the initial damage. Previous pathological findings indicate the reduction in width of the nephrogenic zone and the lack
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Association of immune cell recruitment and BPD development Mol. Cell. Pediatr. Pub Date : 2022-08-02 Heydarian, Motaharehsadat, Schulz, Christian, Stoeger, Tobias, Hilgendorff, Anne
In the neonatal lung, exposure to both prenatal and early postnatal risk factors converge into the development of injury and ultimately chronic disease, also known as bronchopulmonary dysplasia (BPD). The focus of many studies has been the characteristic inflammatory responses provoked by these exposures. Here, we review the relationship between immaturity and prenatal conditions, as well as postnatal
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Correction: Infant formulas with synthetic oligosaccharides and respective marketing practices: Position Statement of the German Society for Child and Adolescent Medicine e.V. (DGKJ), Commission for Nutrition Mol. Cell. Pediatr. Pub Date : 2022-07-23 Bührer, Christoph, Ensenauer, Regina, Jochum, Frank, Kalhoff, Hermann, Koletzko, Berthold, Lawrenz, Burkhard, Mihatsch, Walter, Posovszky, Carsten, Rudloff, Silvia
Correction: Mol Cell Pediatr 9, 14 (2022) https://doi.org/10.1186/s40348-022-00146-y Following publication of the original article [1], authors would like to correct the article title. The correct article title is given below: Infant formulas with synthetic oligosaccharides and respective marketing practices: Position Statement of the German Society for Child and Adolescent Medicine e.V. (DGKJ), Commission
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Infant formulas with synthetic oligosaccharides and respective marketing practices Mol. Cell. Pediatr. Pub Date : 2022-07-13 Bührer, Christoph, Ensenauer, Regina, Jochum, Frank, Kalhoff, Hermann, Koletzko, Berthold, Lawrenz, Burkhard, Mihatsch, Walter, Posovszky, Carsten, Rudloff, Silvia
Human milk contains more than 150 different oligosaccharides, which together are among to the quantitatively predominant solid components of breast milk. The oligosaccharide content and composition of human milk show large inter-individual differences. Oligosaccharide content is mostly influenced by genetic variants of the mother’s secretor status. Oligosaccharides in human milk are utilized by infants’
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High-resolution label-free mapping of murine kidney vasculature by raster-scanning optoacoustic mesoscopy: an ex vivo study Mol. Cell. Pediatr. Pub Date : 2022-07-04 Goebel, Colin A., Brown, Emma, Fahlbusch, Fabian B., Wagner, Alexandra L., Buehler, Adrian, Raupach, Thomas, Hohmann, Martin, Späth, Moritz, Burton, Neal, Woelfle, Joachim, Schmidt, Michael, Hartner, Andrea, Regensburger, Adrian P., Knieling, Ferdinand
Chronic kidney disease (CKD) is a global burden affecting both children and adults. Novel imaging modalities hold great promise to visualize and quantify structural, functional, and molecular organ damage. The aim of the study was to visualize and quantify murine renal vasculature using label-free raster scanning optoacoustic mesoscopy (RSOM) in explanted organs from mice with renal injury. For the
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Molecular mechanisms of Shigella effector proteins: a common pathogen among diarrheic pediatric population Mol. Cell. Pediatr. Pub Date : 2022-06-19 Nasser, Ahmad, Mosadegh, Mehrdad, Azimi, Taher, Shariati, Aref
Different gastrointestinal pathogens cause diarrhea which is a very common problem in children aged under 5 years. Among bacterial pathogens, Shigella is one of the main causes of diarrhea among children, and it accounts for approximately 11% of all deaths among children aged under 5 years. The case-fatality rates for Shigella among the infants and children aged 1 to 4 years are 13.9% and 9.4%, respectively
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Ultrasound elastography in children — nice to have for scientific studies or arrived in clinical routine? Mol. Cell. Pediatr. Pub Date : 2022-06-06 Mentzel, Hans-Joachim, Glutig, Katja, Gräger, Stephanie, Krüger, Paul-Christian, Waginger, Matthias
Ultrasound elastography (USE) is a modality that in addition to fundamental B-mode, Doppler, and contrast-enhanced sonography is suitable to make qualitative and quantitative statements about the stiffness of tissues. Introduced more than 20 years ago in adults, USE becomes now a diagnostic tool also in children. The aim of this paper is to describe current available techniques for USE in children
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Long noncoding RNAs as regulators of pediatric acute myeloid leukemia Mol. Cell. Pediatr. Pub Date : 2022-05-20 Neyazi, Sina, Ng, Michelle, Heckl, Dirk, Klusmann, Jan-Henning
Long noncoding RNAs (lncRNAs) are increasingly emerging as regulators across human development and disease, and many have been described in the context of hematopoiesis and leukemogenesis. These studies have yielded new molecular insights into the contribution of lncRNAs to AML development and revealed connections between lncRNA expression and clinical parameters in AML patients. In this mini review
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How peritoneal dialysis transforms the peritoneum and vasculature in children with chronic kidney disease—what can we learn for future treatment? Mol. Cell. Pediatr. Pub Date : 2022-05-05 Bartosova, Maria, Zarogiannis, Sotirios G., Schmitt, Claus Peter
Children with chronic kidney disease (CKD) suffer from inflammation and reactive metabolite-induced stress, which massively accelerates tissue and vascular aging. Peritoneal dialysis (PD) is the preferred dialysis mode in children, but currently used PD fluids contain far supraphysiological glucose concentrations for fluid and toxin removal and glucose degradation products (GDP). While the peritoneal
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When inflammation meets lung development—an update on the pathogenesis of bronchopulmonary dysplasia Mol. Cell. Pediatr. Pub Date : 2022-04-20 Holzfurtner, Lena, Shahzad, Tayyab, Dong, Ying, Rekers, Lisa, Selting, Ariane, Staude, Birte, Lauer, Tina, Schmidt, Annesuse, Rivetti, Stefano, Zimmer, Klaus-Peter, Behnke, Judith, Bellusci, Saverio, Ehrhardt, Harald
Even more than 50 years after its initial description, bronchopulmonary dysplasia (BPD) remains one of the most important and lifelong sequelae following premature birth. Tremendous efforts have been undertaken since then to reduce this ever-increasing disease burden but a therapeutic breakthrough preventing BPD is still not in sight. The inflammatory response provoked in the immature lung is a key
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Implementation of exclusive enteral nutrition in pediatric patients with Crohn's disease-results of a survey of CEDATA-GPGE reporting centers. Mol. Cell. Pediatr. Pub Date : 2022-04-05 Sarah Peters,Serdar Cantez,Jan De Laffolie,
BACKGROUND Exclusive enteral nutrition (EEN) is the first-line therapy for pediatric-onset Crohn's disease (CD) patients. CEDATA-GPGE® is the largest patient registry for children and adolescents with inflammatory bowel disease (IBD) in Europe, collecting data from over 5000 patients since 2004 in Germany and Austria. Since the application of EEN over 8 weeks is difficult and a high dropout rate is
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Uni-ventricular palliation vs. bi-ventricular repair: differential inflammatory response Mol. Cell. Pediatr. Pub Date : 2022-03-20 Sigler, Matthias, Rouatbi, Hatem, Vazquez-Jimenez, Jaime, Seghaye, Marie-Christine
To examine whether uni-ventricular palliation (UVP) and bi-ventricular repair (BVR) result in a different pattern of systemic inflammatory response to pediatric cardiac surgery with extra-corporeal circulation (ECC). In 20 children (median age 39.5 months) undergoing either UVP (n = 12) or BVR (n = 8), plasma levels of the inflammatory cytokines TNF-α, IL-6, IL-10, and IL-12 and of procalcitonin (PCT)
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Correction to: Precision medicine in pediatric oncology Mol. Cell. Pediatr. Pub Date : 2022-03-10 Burdach, Stefan E. G., Westhoff, Mike-Andrew, Steinhauser, Maximilian Felix, Debatin, Klaus-Michael
Correction to: Mol Cell Pediatr 5, 6 (2018) https://doi.org/10.1186/s40348-018-0084-3 Following publication of the original article [1], the author would like to correct the incorrect grant number found in the Funding statement. Incorrect Funding statement: “This work was supported by grants from Cura Placida Children’s Cancer Research Foundation and the Wilhelm-Sander Stiftung (2009.901.3). It is
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DMBT1 is upregulated in cystic fibrosis, affects ciliary motility, and is reduced by acetylcysteine Mol. Cell. Pediatr. Pub Date : 2022-03-05 Kiefer, Alexander, Plattner, Erika, Ruppel, Renate, Weiss, Christel, Zhou-Suckow, Zhe, Mall, Marcus, Renner, Marcus, Müller, Hanna
Cystic fibrosis (CF) is the most common genetic disorder in the Caucasian population. Despite remarkable improvements in morbidity and mortality during the last decades, the disease still limits survival and reduces quality of life of affected patients. Moreover, CF still represents substantial economic burden for healthcare systems. Inflammation and infection already start in early life and play important
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PTEN hamartoma tumor syndrome in childhood and adolescence—a comprehensive review and presentation of the German pediatric guideline Mol. Cell. Pediatr. Pub Date : 2022-02-21 Plamper, Michaela, Gohlke, Bettina, Woelfle, Joachim
The PTEN hamartoma tumor syndrome (PHTS) encompasses several different syndromes, which are linked to an autosomal-dominant mutation of the tumor suppressor PTEN gene on chromosome 10. Loss of PTEN activity leads to an increased phosphorylation of different cell proteins, which may have an influence on growth, migration, and apoptosis. Excessive activity of the PI3K/AKT/mTOR pathway due to PTEN deficiency
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Evaluation of phenotypic and genotypic patterns of aminoglycoside resistance in the Gram-negative bacteria isolates collected from pediatric and general hospitals Mol. Cell. Pediatr. Pub Date : 2022-02-04 Azimi, Leila, Armin, Shahnaz, Samadi Kafil, Hossein, Abdollahi, Nafiseh, Ghazvini, Kiarash, Hasanzadeh, Sepide, Shahraki Zahedani, Shahram, Rafiei Tabatabaei, Sedigheh, Fallah, Fatemeh
The purpose of the current study was to evaluate the phenotypic and genotypic patterns of aminoglycoside resistance among the Gram-negative bacteria (GNB) isolates collected from pediatric and general hospitals in Iran. A total of 836 clinical isolates of GNB were collected from pediatric and general hospitals from January 2018 to the end of December 2019. The identification of bacterial isolates was
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DMBT1 expression and neutrophil-to-lymphocyte ratio during necrotizing enterocolitis are influenced by impaired perfusion due to cardiac anomalies Mol. Cell. Pediatr. Pub Date : 2022-01-06 Diez, Sonja, Besendörfer, Manuel, Weyerer, Veronika, Hartmann, Arndt, Moosmann, Julia, Weiss, Christel, Renner, Marcus, Müller, Hanna
Deleted in malignant brain tumors 1 (DMBT1) is involved in innate immunity and epithelial differentiation. It has been proven to play a role in various states of inflammation or hypoxia of fetal gastrointestinal and pulmonary diseases. Discrimination of pathogenesis in necrotizing enterocolitis (NEC) based on cardiac status improves the understanding of NEC in different patient subgroups. We aimed
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Perinatal origins of chronic lung disease: mechanisms–prevention–therapy—sphingolipid metabolism and the genetic and perinatal origins of childhood asthma Mol. Cell. Pediatr. Pub Date : 2021-12-20 Wasserman, Emily, Worgall, Stefan
Childhood asthma derives from complex host-environment interactions occurring in the perinatal and infant period, a critical time for lung development. Sphingolipids are bioactive molecules consistently implicated in the pathogenesis of childhood asthma. Genome wide association studies (GWAS) initially identified a link between alleles within the 17q21 asthma-susceptibility locus, childhood asthma
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Patho-mechanisms of the origins of bronchopulmonary dysplasia Mol. Cell. Pediatr. Pub Date : 2021-12-11 Sahni, Mitali, Bhandari, Vineet
Bronchopulmonary dysplasia (BPD) continues to be one of the most common complications of prematurity, despite significant advancement in neonatology over the last couple of decades. The new BPD is characterized histopathologically by impaired lung alveolarization and dysregulated vascularization. With the increased survival of extremely preterm infants, the risk for the development of BPD remains high
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Translational research approaches to study pediatric polycystic kidney disease Mol. Cell. Pediatr. Pub Date : 2021-12-09 Liebau, Max Christoph, Mekahli, Djalila
Polycystic kidney diseases (PKD) are severe forms of genetic kidney disorders. The two main types of PKD are autosomal recessive and autosomal dominant PKD (ARPKD, ADPKD). While ARPKD typically is a disorder of early childhood, patients with ADPKD often remain pauci-symptomatic until adulthood even though formation of cysts in the kidney already begins in children. There is clinical and genetic overlap
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Imaging of peripheral vascular malformations — current concepts and future perspectives Mol. Cell. Pediatr. Pub Date : 2021-12-07 Schmidt, Vanessa F., Masthoff, Max, Czihal, Michael, Cucuruz, Beatrix, Häberle, Beate, Brill, Richard, Wohlgemuth, Walter A., Wildgruber, Moritz
Vascular Malformations belong to the spectrum of orphan diseases and can involve all segments of the vascular tree: arteries, capillaries, and veins, and similarly the lymphatic vasculature. The classification according to the International Society for the Study of Vascular Anomalies (ISSVA) is of major importance to guide proper treatment. Imaging plays a crucial role to classify vascular malformations
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The role of the immune system in idiopathic nephrotic syndrome Mol. Cell. Pediatr. Pub Date : 2021-11-18 Hackl, Agnes, Zed, Seif El Din Abo, Diefenhardt, Paul, Binz-Lotter, Julia, Ehren, Rasmus, Weber, Lutz Thorsten
Idiopathic nephrotic syndrome (INS) in children is characterized by massive proteinuria and hypoalbuminemia and usually responds well to steroids. However, relapses are frequent, which can require multi-drug therapy with deleterious long-term side effects. In the last decades, different hypotheses on molecular mechanisms underlying INS have been proposed and several lines of evidences strongly indicate
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Does allogeneic stem cell transplantation in survivors of pediatric leukemia impact regular physical activity, pulmonary function, and exercise capacity? Mol. Cell. Pediatr. Pub Date : 2021-11-04 Ruf, Katharina, Badran, Alaa, Siauw, Céline, Haubitz, Imme, Schlegel, Paul-Gerhardt, Hebestreit, Helge, Härtel, Christoph, Wiegering, Verena
Allogeneic hematopoietic stem cell transplantation (allo-HSCT) has improved survival in high-risk childhood leukemia but is associated with long-term sequelae such as impaired pulmonary function and reduced exercise capacity impacting quality of life. A convenience sample of 17 patients after allo-HSCT (HSCT—12 male, age 15.7±6.7 years, time after HSCT 5.3±2.8 years) underwent pulmonary function testing
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Bacterial metabolites and cardiovascular risk in children with chronic kidney disease Mol. Cell. Pediatr. Pub Date : 2021-10-22 Schlender, Julia, Behrens, Felix, McParland, Victoria, Müller, Dominik, Wilck, Nicola, Bartolomaeus, Hendrik, Holle, Johannes
Cardiovascular complications are the major cause of the marked morbidity and mortality associated with chronic kidney disease (CKD). The classical cardiovascular risk factors such as diabetes and hypertension undoubtedly play a role in the development of cardiovascular disease (CVD) in adult CKD patients; however, CVD is just as prominent in children with CKD who do not have these risk factors. Hence
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Proceedings of the 9th International Symposium on MDS and SAA in Childhood Mol. Cell. Pediatr. Pub Date : 2021-10-11
C.S. Vink1, A. Popravko1, C. Eich1, A. Maglitto1, F.J. Calero-Nieto2, W. Jawaid2, X. Wang2, S.A. Mariani1, B. Göttgens2, E. Dzierzak1 1Centre for Inflammation Research, Queen’s Medical Research Institute, The University of Edinburgh, UK; 2Department of Haematology, Cambridge Institute for Medical Research, Wellcome Trust-MRC Cambridge Stem Cell Institute, University of Cambridge, UK Hematopoietic stem
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Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis Mol. Cell. Pediatr. Pub Date : 2021-10-04 Vidic, Clara, Zaniew, Marcin, Jurga, Szymon, Thiele, Holger, Reutter, Heiko, Hilger, Alina C.
DSTYK encodes dual serine/threonine and tyrosine protein kinase. DSTYK has been associated with autosomal-dominant congenital anomalies of the kidney and urinary tract and with autosomal-recessive hereditary spastic paraplegia type 23. Here, we report a father and his two dizygotic twin sons carrying a novel heterozygous missense variant in DSTYK, presenting with early onset lower urinary tract dysfunction
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Correction to: Novel ways to monitor immunosuppression in pediatric kidney transplant recipients—underlying concepts and emerging data Mol. Cell. Pediatr. Pub Date : 2021-09-30 Ahlenstiel-Grunow, Thurid, Pape, Lars
Correction to: Mol Cell Pediatr 8, 8 (2021) https://doi.org/10.1186/s40348-021-00118-8 Following publication of the original article [1], an error occurred in the authors’ competing interest statement during the typesetting of this article. The correct statement should read the following: The authors declare that they have no competing interests concerning the content of this Mini Review. The authors
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How FGF23 shapes multiple organs in chronic kidney disease Mol. Cell. Pediatr. Pub Date : 2021-09-18 Leifheit-Nestler, Maren, Haffner, Dieter
Chronic kidney disease (CKD) is associated with distinct alterations in mineral metabolism in children and adults resulting in multiple organ dysfunctions. Children with advanced CKD often suffer from impaired bone mineralization, bone deformities and fractures, growth failure, muscle weakness, and vascular and soft tissue calcification, a complex which was recently termed CKD-mineral and bone disorder
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ESPED survey on newly diagnosed immune thrombocytopenia in childhood: how much treatment do we give? Mol. Cell. Pediatr. Pub Date : 2021-09-05 von Lukowicz, Hannah, Schlegel, Paul-Gerhardt, Härtel, Christoph, Morbach, Henner, Haubitz, Imme, Wiegering, Verena
Immune thrombocytopenia (ITP) is an autoimmune disease associated with isolated thrombocytopenia, which is caused by an imbalance between platelet production and platelet destruction. Petechial and mucous membrane hemorrhages are characteristic of ITP, but life-threatening bleeding rarely occurs. Depending on the bleeding symptoms, ITP can be treated with glucocorticoids (GC), intravenous immunoglobulins
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A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene Mol. Cell. Pediatr. Pub Date : 2021-08-26 Koerber-Rosso, Ingrid, Brandt, Stephanie, von Schnurbein, Julia, Fischer-Posovszky, Pamela, Hoegel, Josef, Rabenstein, Hannah, Siebert, Reiner, Wabitsch, Martin
Leptin (LEP) and leptin receptor (LEPR) play a major role in energy homeostasis, metabolism, and reproductive function. While effects of biallelic likely pathogenic variants (-/-) on the phenotype are well characterized, effects of mono-allelic likely pathogenic variants (wt/-) in the LEP and LEPR gene on the phenotype compared to wild-type homozygosity (wt/wt) have not been systematically investigated
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The mutual patterning between the developing nephron and its covering tissues—valid reasons to rethink the search for traces left by impaired nephrogenesis Mol. Cell. Pediatr. Pub Date : 2021-08-17 Minuth, Will W.
The impairment of nephrogenesis can cause the termination of nephron formation in preterm and low birth weight babies. This leads to oligonephropathy with severe health consequences in later life. Although many clinical parameters are known, surprisingly little information is available regarding the initial damage on the developing nephron. Equally astounding, the first morphological data regarding
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Novel ways to monitor immunosuppression in pediatric kidney transplant recipients—underlying concepts and emerging data Mol. Cell. Pediatr. Pub Date : 2021-07-26 Thurid Ahlenstiel-Grunow, Lars Pape
After pediatric kidney transplantation, immunosuppressive therapy is given to avoid acute and chronic rejections. However, the immunosuppression causes an increased risk of severe viral complications and bacterial infections and is associated with serious side effects. It is therefore crucial to achieve the optimal individual balance between over- and under-immunosuppression and thereby avoid unnecessary
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Aggressive infantile myofibromatosis with intestinal involvement Mol. Cell. Pediatr. Pub Date : 2021-06-16 Tristan Römer, Norbert Wagner, Till Braunschweig, Robert Meyer, Miriam Elbracht, Udo Kontny, Olga Moser
Infantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy. Multicentric disease can be associated with life-threatening visceral lesions. Germline gain-of-function mutations in PDGFRB have been identified as the most common molecular defect in familial IM. We here describe an infant with PDGFRB-driven IM with multiple tumors at different sites, including intestinal
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Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family Mol. Cell. Pediatr. Pub Date : 2021-05-09 Fatemeh Bitarafan, Mehrnoosh Khodaeian, Elham Amjadi Sardehaei, Fatemeh Zahra Darvishi, Navid Almadani, Yalda Nilipour, Masoud Garshasbi
Ca2+ as a universal second messenger regulates basic biological functions including cell cycle, cell proliferation, cell differentiation, and cell death. Lack of the protein mitochondrial calcium uptake1 (MICU1), which has been regarded as a gatekeeper of Ca ions, leads to the abnormal mitochondrial Ca2+ handling, excessive production of reactive oxygen species (ROS), and increased cell death. Mutations