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Asprosin in pregnancy and childhood Mol. Cell. Pediatr. Pub Date : 2020-12-23 Ruth Janoschek; Thorben Hoffmann; Yousef Ashraf Tawfik Morcos; Gerhard Sengle; Jörg Dötsch; Eva Hucklenbruch-Rother
The prevalence for childhood overweight and obesity increased steadily in the past decades. Childhood obesity was defined as a disease by the World Health Organization [25] and by the American Medical Association (2013) [7] and is listed in the International Statistical Classification of Diseases and Related Health Problems in (ICD). In 2016 over 340 million children and adolescents, aged 5–19 were
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Impact of early-life diet on long-term renal health Mol. Cell. Pediatr. Pub Date : 2020-12-03 Eva Nüsken; Jenny Voggel; Gregor Fink; Jörg Dötsch; Kai-Dietrich Nüsken
In the last years, great advances have been made in the effort to understand how nutritional influences can affect long-term renal health. Evidence has accumulated that maternal nutrition before and during pregnancy and lactation as well as early postnatal nutrition is of special significance. In this review, we summarize epidemiologic and experimental data on the renal effects of perinatal exposure
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Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts’ consensus Mol. Cell. Pediatr. Pub Date : 2020-11-03 Gerhard Binder; Dirk Schnabel; Thomas Reinehr; Roland Pfäffle; Helmuth-Günther Dörr; Markus Bettendorf; Berthold Hauffa; Joachim Woelfle
Isolated growth hormone deficiency (GHD) is defined by growth failure in combination with retarded bone age, low serum insulin-like growth factor-1, and insufficient GH peaks in two independent GH stimulation tests. Congenital GHD can present at any age and can be associated with significant malformations of the pituitary-hypothalamic region or the midline of the brain. In rare instances, genetic analysis
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Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency Mol. Cell. Pediatr. Pub Date : 2020-11-03 Stefanie Zorn; Julia von Schnurbein; Katja Kohlsdorf; Christian Denzer; Martin Wabitsch
Rare genetic variations in the leptin-melanocortin signalling pathway can severely impair appetite regulation and cause extreme obesity in early childhood. Our case reports describe the diagnostic and therapeutic procedures in a girl as well as in a non-related boy of non-consanguineous, German parents with severe early-onset obesity, pronounced hyperphagia, and permanent food-seeking behaviour. Excessive
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A case of recurrent herpes simplex 2 encephalitis, VZV reactivations, and dominant partial interferon-gamma-receptor-1 deficiency supports relevance of IFNgamma for antiviral defense in humans Mol. Cell. Pediatr. Pub Date : 2020-10-14 Julia Körholz; Nicole Richter; Jochen Schäfer; Catharina Schuetz; Joachim Roesler
Unlike infections with mycobacteria, reports of unusual viral infections in interferon-gamma-receptor (IFNγR) deficient patients are scarce. Therefore, discussion about increased susceptibility to viral infections in these patients is ongoing. We describe a 51-year-old male with dominant partial interferon-gamma-receptor-1 (IFNγR1)-deficiency and recurrent Herpes simplex 2 meningoencephalitis as well
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A role for the alpha-8 integrin chain (itga8) in glomerular homeostasis of the kidney Mol. Cell. Pediatr. Pub Date : 2020-10-01 Ines Marek; Karl Friedrich Hilgers; Wolfgang Rascher; Joachim Woelfle; Andrea Hartner
Glomerulonephritis results in a dysregulation of glomerular cells and may end up in chronic alterations and subsequent loss of renal function. Therefore, understanding mechanisms, which contribute to maintain glomerular integrity, is a pivotal prerequisite for therapeutic interventions. The alpha-8 integrin chain seems to be an important player to maintain glomerular homeostasis by conferring mechanical
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Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report. Mol. Cell. Pediatr. Pub Date : 2020-09-16 Nami Mohammadian Khonsari,Sahar Mohammad Poor Nami,Benyamin Hakak-Zargar,Tessa Voth
Linear bone growth is achieved by the division of chondrocytes at the growth plate and is regulated by endocrine and paracrine factors such as growth hormone. Mutations that negatively affect chondrogenesis can be a contributor to short stature. One such mutation can occur in the ACAN gene, causing short stature and advanced bone age. Similarly, mutations in growth hormone receptors (GHR) can lead
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Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy. Mol. Cell. Pediatr. Pub Date : 2020-09-03 Judith Beschle,Michaela Döring,Christiane Kehrer,Christa Raabe,Ute Bayha,Manuel Strölin,Judith Böhringer,Andrea Bevot,Nadja Kaiser,Benjamin Bender,Alexander Grimm,Peter Lang,Ingo Müller,Ingeborg Krägeloh-Mann,Samuel Groeschel
Long-term outcomes of hematopoietic stem cell transplantation (HSCT) in children with juvenile metachromatic leukodystrophy (MLD) have been investigated systematically, while short-term effects of HSCT on the course of the disease remain to be elucidated. In this study, the clinical course was evaluated over the first 24 months following HSCT, conducted at our center in 12 children with juvenile MLD
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Nup133 and ERα mediate the differential effects of hyperoxia-induced damage in male and female OPCs. Mol. Cell. Pediatr. Pub Date : 2020-08-25 Donna Elizabeth Sunny,Elke Hammer,Sebastian Strempel,Christy Joseph,Himanshu Manchanda,Till Ittermann,Stephanie Hübner,Frank Ulrich Weiss,Uwe Völker,Matthias Heckmann
Hyperoxia is a well-known cause of cerebral white matter injury in preterm infants with male sex being an independent and critical risk factor for poor neurodevelopmental outcome. Sex is therefore being widely considered as one of the major decisive factors for prognosis and treatment of these infants. But unfortunately, we still lack a clear view of the molecular mechanisms that lead to such a profound
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Osteogenesis imperfecta-pathophysiology and therapeutic options. Mol. Cell. Pediatr. Pub Date : 2020-08-14 Julia Etich,Lennart Leßmeier,Mirko Rehberg,Helge Sill,Frank Zaucke,Christian Netzer,Oliver Semler
Osteogenesis imperfecta (OI) is a rare congenital disease with a wide spectrum of severity characterized by skeletal deformity and increased bone fragility as well as additional, variable extraskeletal symptoms. Here, we present an overview of the genetic heterogeneity and pathophysiological background of OI as well as OI-related bone fragility disorders and highlight current therapeutic options. The
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Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Mol. Cell. Pediatr. Pub Date : 2020-07-09 Helmuth-Günther Dörr,Nadja Schulze,Markus Bettendorf,Gerhard Binder,Walter Bonfig,Christian Denzer,Desiree Dunstheimer,Kirsten Salzgeber,Heinrich Schmidt,Karl Otfried Schwab,Egbert Voss,Martin Wabitsch,Joachim Wölfle
Nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by mutations in the active 21-hydroxylase gene (CYP21A2). The clinical symptoms can vary greatly. To date, no systematic studies have been undertaken in Germany. Description of the phenotype, evaluation of the diagnostics and genotype-phenotype correlation Retrospective analysis of the data of 134 patients (age range
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DNA methylation biomarkers of future health outcomes in children. Mol. Cell. Pediatr. Pub Date : 2020-07-09 Shivanthan Shanthikumar,Melanie R Neeland,Jovana Maksimovic,Sarath C Ranganathan,Richard Saffery
Biomarkers which predict future health outcomes are key to the goals of precision health. Such biomarkers do not have to be involved in the causal pathway of a disease, and their performance is best assessed using statistical tests of clinical performance and evaluation of net health impact. DNA methylation is the most commonly studied epigenetic process and represents a potential biomarker of future
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Infant formula with cow's milk fat and prebiotics affects intestinal flora, but not the incidence of infections during infancy in a double-blind randomized controlled trial. Mol. Cell. Pediatr. Pub Date : 2020-07-02 Antonia Nomayo,Andreas Schwiertz,Rainer Rossi,Katharina Timme,Janine Foster,Richard Zelenka,Josef Tvrdik,Frank Jochum
The postnatal intestinal colonization of human milk-fed and formula-fed infants differs substantially, as does the susceptibility to infectious diseases during infancy. Specific ingredients in human milk, such as prebiotic human milk oligosaccharides and a specifically structured fat composition with high proportion of beta-palmitic acid (beta-PA) promote the growth of intestinal bifidobacteria, which
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Pro-inflammatory cytokine ratios determine the clinical course of febrile neutropenia in children receiving chemotherapy. Mol. Cell. Pediatr. Pub Date : 2020-06-09 Mira Siegmund,Julia Pagel,Tasja Scholz,Jan Rupp,Christoph Härtel,Melchior Lauten
Febrile neutropenia is a common and serious complication during treatment of childhood cancer. Empirical broad-spectrum antibiotics are usually administered until neutrophil cell count recovery. It was the aim of this study to investigate cytokine profiles as potential biomarkers using in-vitro sepsis models to differentiate between distinct clinical courses of febrile neutropenia (FN). We conducted
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Modulation of CYP2E1 metabolic activity in a cohort of confirmed caffeine ingesting pregnant women with preterm offspring. Mol. Cell. Pediatr. Pub Date : 2020-06-01 M R Alcorta-García,C N López-Villaseñor,G Sánchez-Ferrer,H Flores-Mendoza,F Castorena-Torres,M A Aguilar-Torres,C M Sepúlveda-Treviño,J A Hernández-Hernández,R C López-Sánchez,V J Lara-Díaz
To ascertain interactions of caffeine ingestion, food, medications, and environmental exposures during preterm human gestation, under informed consent, we studied a cohort of Mexican women with further preterm offspring born at ≤ 34 completed weeks. At birth, blood samples were taken from mothers and umbilical cords to determine caffeine and metabolites concentrations and CYP1A2 (rs762551) and CYP2E1
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Shedding light on pediatric diseases: multispectral optoacoustic tomography at the doorway to clinical applications Mol. Cell. Pediatr. Pub Date : 2020-03-04 Adrian P. Regensburger; Alexandra L. Wagner; Jing Claussen; Maximilian J. Waldner; Ferdinand Knieling
Optoacoustic imaging (OAI), or photoacoustic imaging (PAI), has fundamentally influenced basic science by providing high-resolution visualization of biological mechanisms. With the introduction of multispectral optoacoustic tomography (MSOT), these technologies have now moved closer to clinical applications. MSOT utilizes short-pulsed near-infrared laser light to induce thermoelastic expansion in targeted
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Random X chromosome inactivation in patients with Klinefelter syndrome. Mol. Cell. Pediatr. Pub Date : 2020-01-24 Kenichi Kinjo,Tomoko Yoshida,Yoshitomo Kobori,Hiroshi Okada,Erina Suzuki,Tsutomu Ogata,Mami Miyado,Maki Fukami
X chromosome inactivation (XCI) is an indispensable process in the development of human female embryos. Reportedly, XCI occurs when a blastocyst contains 10–12 embryonic progenitor cells. To date, it remains unclear whether XCI ratios are normally preserved in Klinefelter syndrome (KS) patients with 47,XXY karyotype. We examined XCI ratios in 18 KS patients through DNA methylation analysis for the
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Shaping of the nephron - a complex, vulnerable, and poorly explored backdrop for noxae impairing nephrogenesis in the fetal human kidney. Mol. Cell. Pediatr. Pub Date : 2020-01-22 Will W Minuth
The impairment of nephrogenesis is caused by noxae, all of which are significantly different in molecular composition. These can cause an early termination of nephron development in preterm and low birth weight babies resulting in oligonephropathy. For the fetal human kidney, there was no negative effect reported on the early stages of nephron anlage such as the niche, pretubular aggregate, renal vesicle
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Functional analysis of granulocyte and monocyte subpopulations in neonates. Mol. Cell. Pediatr. Pub Date : 2019-11-28 Ines Hegge,Ferry Niepel,Anja Lange,Antje Vogelgesang,Matthias Heckmann,Johanna Ruhnau
Neonate immune cell functions lack full protection against pathogens. This could be either defect or protective mechanism against overshooting proinflammatory immune responses. We here analysed the function of classical, pro- and anti-inflammatory monocytes and granulocytes from neonates in comparison with adults to investigate if suppressed functions of subpopulations are causative for the unique
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Vegetarian diets in childhood and adolescence : Position paper of the nutrition committee, German Society for Paediatric and Adolescent Medicine (DGKJ). Mol. Cell. Pediatr. Pub Date : 2019-11-12 Silvia Rudloff,Christoph Bührer,Frank Jochum,Thomas Kauth,Mathilde Kersting,Antje Körner,Berthold Koletzko,Walter Mihatsch,Christine Prell,Thomas Reinehr,Klaus-Peter Zimmer
In Western countries, vegetarian diets are associated with lower intakes of energy, saturated fatty acids and animal protein and higher intakes of fibre and phytochemicals, compared to omnivorous diets. Whether the corresponding health benefits in vegetarians outweigh the risks of nutrient deficiencies has not been fully clarified. It should be noted that vegetarians often have a higher socioeconomic
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Mesenchymal stromal cells in the development and therapy of bronchopulmonary dysplasia. Mol. Cell. Pediatr. Pub Date : 2016-05-05 Marius A Möbius,Mario Rüdiger
Bronchopulmonary dysplasia (BPD), the chronic lung disease of prematurity, remains a major healthcare burden. Despite great progresses in perinatal medicine over the past decades, no cure for BPD has been found. The complex pathophysiology of the disease further hampers the development of effective treatment strategies, but recent insights into the biology of mesenchymal stem (MSCs) and progenitor
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Alveologenesis: key cellular players and fibroblast growth factor 10 signaling. Mol. Cell. Pediatr. Pub Date : 2016-04-22 Cho-Ming Chao,Alena Moiseenko,Klaus-Peter Zimmer,Saverio Bellusci
BACKGROUND Alveologenesis is the last stage in lung development and is essential for building the gas-exchanging units called alveoli. Despite intensive lung research, the intricate crosstalk between mesenchymal and epithelial cell lineages during alveologenesis is poorly understood. This crosstalk contributes to the formation of the secondary septae, which are key structures of healthy alveoli. CONCLUSIONS
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Inhaled protein/peptide-based therapies for respiratory disease. Mol. Cell. Pediatr. Pub Date : 2016-04-22 Robert C Fellner,Shawn T Terryah,Robert Tarran
Asthma, chronic obstructive pulmonary disease (COPD), and cystic fibrosis (CF) are all chronic pulmonary diseases, albeit with different etiologies, that are characterized by airflow limitation, chronic inflammation, and abnormal mucus production/rheology. Small synthetic molecule-based therapies are commonly prescribed for all three diseases. However, there has been increased interest in "biologicals"
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Can the preterm lung recover from perinatal stress? Mol. Cell. Pediatr. Pub Date : 2016-04-15 Matthias C Hütten,Tim G A M Wolfs,Boris W Kramer
After birth, adequate lung function is necessary for the successful adaptation of a preterm baby. Both prenatal and postnatal insults and therapeutic interventions have an immediate effect on lung function and gas exchange but also interfere with fetal and neonatal lung development. Prenatal insults like chorioamnionitis and prenatal interventions like maternal glucocorticosteroids interact but might
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The impact of hypoxia on intestinal epithelial cell functions: consequences for invasion by bacterial pathogens. Mol. Cell. Pediatr. Pub Date : 2016-03-24 Nathalie E Zeitouni,Sucheera Chotikatum,Maren von Köckritz-Blickwede,Hassan Y Naim
The maintenance of oxygen homeostasis in human tissues is mediated by several cellular adaptations in response to low-oxygen stress, called hypoxia. A decrease in tissue oxygen levels is initially counteracted by increasing local blood flow to overcome diminished oxygenation and avoid hypoxic stress. However, studies have shown that the physiological oxygen concentrations in several tissues are much
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Manipulating proteostasis to repair the F508del-CFTR defect in cystic fibrosis. Mol. Cell. Pediatr. Pub Date : 2016-03-16 Speranza Esposito,Antonella Tosco,Valeria R Villella,Valeria Raia,Guido Kroemer,Luigi Maiuri
Cystic fibrosis (CF) is a lethal monogenic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that entails the (diagnostic) increase in sweat electrolyte concentrations, progressive lung disease with chronic inflammation and recurrent bacterial infections, pancreatic insufficiency, and male infertility. Therapies aimed at restoring the CFTR defect have
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Update on host-pathogen interactions in cystic fibrosis lung disease. Mol. Cell. Pediatr. Pub Date : 2016-02-26 Andreas Hector,Nina Frey,Dominik Hartl
Bacterial and fungal infections are hallmarks of cystic fibrosis (CF) lung disease. In the era of long-term inhaled antibiotics and increasing CF patient survival, new "emerging" pathogens are detected in CF airways, yet their pathophysiological disease relevance remains largely controversial and incompletely defined. As a response to chronic microbial triggers, innate immune cells, particularly neutrophils
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Underlying molecular and cellular mechanisms in childhood irritable bowel syndrome. Mol. Cell. Pediatr. Pub Date : 2016-02-18 Bruno P Chumpitazi,Robert J Shulman
Irritable bowel syndrome (IBS) affects a large number of children throughout the world. The symptom expression of IBS is heterogeneous, and several factors which may be interrelated within the IBS biopsychosocial model play a role. These factors include visceral hyperalgesia, intestinal permeability, gut microbiota, psychosocial distress, gut inflammation, bile acids, food intolerance, colonic bacterial
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Fructose malabsorption. Mol. Cell. Pediatr. Pub Date : 2016-02-18 Karolin Ebert,Heiko Witt
Incomplete intestinal absorption of fructose might lead to abdominal complaints such as pain, flatulence and diarrhoea. Whether defect fructose transporters such as GLUT5 or GLUT2 are involved in the pathogenesis of fructose malabsorption is a matter of debate. The hydrogen production by colonic bacteria is used for diagnosis with the hydrogen breath test. However, the appropriate fructose test dose
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Diverse roles of endoplasmic reticulum stress sensors in bacterial infection. Mol. Cell. Pediatr. Pub Date : 2016-02-18 Helena Pillich,Maria Loose,Klaus-Peter Zimmer,Trinad Chakraborty
Bacterial infection often leads to cellular damage, primarily marked by loss of cellular integrity and cell death. However, in recent years, it is being increasingly recognized that, in individual cells, there are graded responses collectively termed cell-autonomous defense mechanisms that induce cellular processes designed to limit cell damage, enable repair, and eliminate bacteria. Many of these
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Endocytosis and transcytosis of gliadin peptides. Mol. Cell. Pediatr. Pub Date : 2016-02-18 M Vittoria Barone,K Peter Zimmer
BACKGROUND Celiac disease (CD) is a frequent inflammatory intestinal disease, with a genetic background, caused by gliadin-containing food. Some gliadin peptides are not digested by intestinal proteases and can have different biological effects. Gliadin peptides can induce innate and adaptive T cell-mediated immune responses. The major mediator of the stress and innate immune response to gliadin peptides
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Genetics of irritable bowel syndrome. Mol. Cell. Pediatr. Pub Date : 2016-02-14 Maria Henström,Mauro D'Amato
Irritable bowel syndrome (IBS) is a common condition with a complex and largely unknown etiology. There is no cure, and treatment options are mainly directed to the amelioration of symptoms. IBS causes reduced quality of life and poses considerable repercussions on health and socioeconomic systems. There is a heritable component in IBS, and genetic research is a valuable tool for the identification
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Mesenchymal stem/stromal cells-a key mediator for regeneration after perinatal morbidity? Mol. Cell. Pediatr. Pub Date : 2016-02-13 Martin Mueller,Tim G A Wolfs,Andreina Schoeberlein,Antonio W D Gavilanes,Daniel Surbek,Boris W Kramer
Perinatal complications in both term- and preterm-born infants are a leading cause of neonatal morbidities and mortality. Infants face different challenges in the neonatal intensive care unit with long-term morbidities such as perinatal brain injury and bronchopulmonary dysplasia being particularly devastating. While advances in perinatal medicine have improved our understanding of the pathogenesis
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The clinical consequences of sucrase-isomaltase deficiency. Mol. Cell. Pediatr. Pub Date : 2016-02-10 Stanley A Cohen
Primary sucrase-isomaltase deficiency, originally thought to be a homozygous recessive disorder, has been found to have numerous genetic variants that alone or in combination (compound heterozygosity) express varying degrees of clinical illness, most commonly causing chronic diarrhea, abdominal pain, and bloating. These symptoms are also present with secondary sucrase-isomaltase deficiency. Recent
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Milk glucosidase activity enables suckled pup starch digestion. Mol. Cell. Pediatr. Pub Date : 2016-02-03 B L Nichols,M Diaz-Sotomayor,S E Avery,S K Chacko,D L Hadsell,S S Baker,B R Hamaker,L K Yan,H M Lin,R Quezada-Calvillo
UNLABELLED ᅟ: Starch requires six enzymes for digestion to free glucose: two amylases (salivary and pancreatic) and four mucosal maltase activities; sucrase-isomaltase and maltase-glucoamylase. All are deficient in suckling rodents. OBJECTIVE The objective of this study is to test (13)C-starch digestion before weaning by measuring enrichment of blood (13)C-glucose in maltase-glucoamylase-null and wild-type
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Towards understanding microvillus inclusion disease. Mol. Cell. Pediatr. Pub Date : 2016-02-03 Georg F Vogel,Michael W Hess,Kristian Pfaller,Lukas A Huber,Andreas R Janecke,Thomas Müller
Microvillus inclusion disease (MVID) is characterised by onset of intractable life-threatening watery diarrhoea during infancy. Transmission electron microscopy demonstrates shortening or absence of apical microvilli, pathognomonic microvillus inclusions in mature enterocytes and subapical accumulation of periodic acid-Schiff-positive granules or vesicles confirming diagnosis. Mutations in MYO5B have
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The multiple roles of sucrase-isomaltase in the intestinal physiology. Mol. Cell. Pediatr. Pub Date : 2016-01-28 Birthe Gericke,Mahdi Amiri,Hassan Y Naim
Osmotic diarrhea and abdominal pain in humans are oftentimes associated with carbohydrate malabsorption in the small intestine due to loss of function of microvillar disaccharidases. Disaccharidases are crucial for the digestion and the subsequent absorption of carbohydrates. This review focuses on sucrase-isomaltase as the most abundant intestinal disaccharidase and the primary or induced pathological
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The role of hypoxia in intestinal inflammation. Mol. Cell. Pediatr. Pub Date : 2016-01-28 Yatrik M Shah
Inflammatory bowel disease (IBD) is a chronic relapsing inflammatory disease of the intestine. IBD is a multifactorial disorder, and IBD-associated genes are critical in innate immune response, inflammatory response, autophagy, and epithelial barrier integrity. Moreover, epithelial oxygen tension plays a critical role in intestinal inflammation and resolution in IBD. The intestines have a dynamic and
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Vitamin D supplementation after the second year of life: joint position of the Committee on Nutrition, German Society for Pediatric and Adolescent Medicine (DGKJ e.V.), and the German Society for Pediatric Endocrinology and Diabetology (DGKED e.V.). Mol. Cell. Pediatr. Pub Date : 2019-05-06 Thomas Reinehr,Dirk Schnabel,Martin Wabitsch,Susanne Bechtold-Dalla Pozza,Christoph Bührer,Bettina Heidtmann,Frank Jochum,Thomas Kauth,Antje Körner,Walter Mihatsch,Christine Prell,Silvia Rudloff,Bettina Tittel,Joachim Woelfle,Klaus-Peter Zimmer,Berthold Koletzko
Low vitamin D serum concentrations have been associated with rickets and other disorders in observational studies. Since vitamin D serum concentrations in children and adolescents are frequently below reference values, it is debated whether vitamin D should be supplemented after infancy. The effects of vitamin D supplementation in children > 2 years of age are analyzed based on a literature review
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Complementary foods in baby food pouches: position statement from the Nutrition Commission of the German Society for Pediatrics and Adolescent Medicine (DGKJ, e.V.). Mol. Cell. Pediatr. Pub Date : 2019-03-06 Berthold Koletzko,Christoph Bührer,Regina Ensenauer,Frank Jochum,Hermann Kalhoff,Burkhard Lawrenz,Antje Körner,Walter Mihatsch,Silvia Rudloff,Klaus-Peter Zimmer
Pureed complementary feeding products packed in squeezable plastic pouches, usually with a spout and a screw cap, have been increasingly marketed. The Committee on Nutrition recommends that infants and young children should not suck pureed or liquid complementary foods from baby food pouches. Complementary foods should be offered with a spoon or should be fed as finger foods. Infants and young children
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KUNO-Kids birth cohort study: rationale, design, and cohort description. Mol. Cell. Pediatr. Pub Date : 2019-01-09 Susanne Brandstetter,Antoaneta A Toncheva,Jakob Niggel,Christine Wolff,Silvia Gran,Birgit Seelbach-Göbel,Christian Apfelbacher,Michael Melter,Michael Kabesch,
Birth cohort studies can contribute substantially to the understanding of health and disease — in childhood and over the life course. The KUNO-Kids birth cohort study was established to investigate various aspects of child health, using novel omics technologies in a systems medicine approach. After 3 years of recruitment, 2515 infants and their families have joined the study. Parents with higher education
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Gene correction of HBB mutations in CD34+ hematopoietic stem cells using Cas9 mRNA and ssODN donors. Mol. Cell. Pediatr. Pub Date : 2018-11-14 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
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
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Chemotherapy and the pediatric brain. Mol. Cell. Pediatr. Pub Date : 2018-11-06 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
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The role of S100 proteins in the pathogenesis and monitoring of autoinflammatory diseases. Mol. Cell. Pediatr. Pub Date : 2018-09-25 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
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Precision medicine in pediatric oncology. Mol. Cell. Pediatr. Pub Date : 2018-08-31 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
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Anti-inflammatory monocytes-interplay of innate and adaptive immunity. Mol. Cell. Pediatr. Pub Date : 2018-04-03 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
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Intrauterine growth restriction - impact on cardiovascular diseases later in life. Mol. Cell. Pediatr. Pub Date : 2018-03-20 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
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CISH promoter polymorphism effects on T cell cytokine receptor signaling and type 1 diabetes susceptibility. Mol. Cell. Pediatr. Pub Date : 2018-02-06 Julia Seyfarth,Heinz Ahlert,Joachim Rosenbauer,Christina Baechle,Michael Roden,Reinhard W Holl,Ertan Mayatepek,Thomas Meissner,Marc Jacobsen
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
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The potential of antisense oligonucleotide therapies for inherited childhood lung diseases. Mol. Cell. Pediatr. Pub Date : 2018-02-06 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
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Preserved in vitro immunoreactivity in children receiving long-term immunosuppressive therapy due to inflammatory bowel disease or autoimmune hepatitis. Mol. Cell. Pediatr. Pub Date : 2018-01-19 Teresa Schleker,Eva-Maria Jacobsen,Benjamin Mayer,Gudrun Strauss,Klaus-Michael Debatin,Carsten Posovszky
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
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Concepts for a therapeutic prolongation of nephrogenesis in preterm and low-birth-weight babies must correspond to structural-functional properties in the nephrogenic zone. Mol. Cell. Pediatr. Pub Date : 2017-12-07 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
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The BPD trio? Interaction of dysregulated PDGF, VEGF, and TGF signaling in neonatal chronic lung disease. Mol. Cell. Pediatr. Pub Date : 2017-11-07 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
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Transcatheter atrial septal defect closure in an infant (body weight 6.4 kg) using the GORE CARDIOFORM septal occluder (GCSO). Mol. Cell. Pediatr. Pub Date : 2017-11-03 Roman Scheidmann,Thomas Paul,Matthias Sigler
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. 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
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Estimated prevalence of potentially damaging variants in the leptin gene. Mol. Cell. Pediatr. Pub Date : 2017-11-03 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
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 ). The ExAC database encompasses exome
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Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? Mol. Cell. Pediatr. Pub Date : 2017-10-05 Michaela Kuhlen,Julia Taeubner,Dagmar Wieczorek,Arndt Borkhardt
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. The 14.5-year-old boy, previously diagnosed with ASD, was referred with persistent bone pain. Diagnostic
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The molecular pathophysiology of chronic non-bacterial osteomyelitis (CNO)-a systematic review. Mol. Cell. Pediatr. Pub Date : 2017-07-06 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
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Pediatric precursor B acute lymphoblastic leukemia: are T helper cells the missing link in the infectious etiology theory? Mol. Cell. Pediatr. Pub Date : 2017-05-16 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
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Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016. Mol. Cell. Pediatr. Pub Date : 2017-05-10 Rhea van den Bruck,Patrick P Weil,Thomas Ziegenhals,Philipp Schreiner,Stefan Juranek,Daniel Gödde,Silvia Vogel,Frauke Schuster,Valerie Orth,Johannes Dörner,Daniel Pembaur,Meike Röper,Stefan Störkel,Hubert Zirngibl,Stefan Wirth,Andreas C W Jenke,Jan Postberg,Nikolas Boy,Jana Heringer,Gisela Haege,Esther M Glahn,Georg F Hoffmann,Sven F Garbade,Peter Burgard,Stefan Kölker,Cho-Ming Chao,Faady Yahya,Alena
Rhea van den Bruck1, Patrick P Weil1, Thomas Ziegenhals2, Philipp Schreiner2, Stefan Juranek2, Daniel Gödde3, Silvia Vogel3, Frauke Schuster4, Valerie Orth5, Johannes Dörner5, Daniel Pembaur1, Meike Röper1, Stefan Störkel3, Hubert Zirngibl5, Stefan Wirth1, Andreas CW Jenke1, Jan Postberg1 1Department of Paediatrics, HELIOS Medical Centre Wuppertal, Centre for Clinical and Translational Research (CCTR)
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Human perinatal immunity in physiological conditions and during infection. Mol. Cell. Pediatr. Pub Date : 2017-04-21 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
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