Articles

Estimated prevalence of potentially damaging variants in the leptin gene

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 heteroz...

Authors: Adriana Nunziata, Guntram Borck, Jan-Bernd Funcke, Katja Kohlsdorf, Stephanie Brandt, Anke Hinney, Barbara Moepps, Peter Gierschik, Klaus-Michael Debatin, Pamela Fischer-Posovszky and Martin Wabitsch

Transcatheter atrial septal defect closure in an infant (body weight 6.4 kg) using the GORE CARDIOFORM septal occluder (GCSO)

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.

Authors: Roman Scheidmann, Thomas Paul and Matthias Sigler

Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?

Autism spectrum disorders (ASDs) are neurodevelopmental disorders with impaired social interactions and communication and restrictive, repetitive patterns of behaviors, interests, and activities. A recent epid...

Authors: Michaela Kuhlen, Julia Taeubner, Dagmar Wieczorek and Arndt Borkhardt

The molecular pathophysiology of chronic non-bacterial osteomyelitis (CNO)—a systematic review

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 s...

Authors: Sigrun Ruth Hofmann, Franz Kapplusch, Katrin Mäbert and Christian Michael Hedrich

Pediatric precursor B acute lymphoblastic leukemia: are T helper cells the missing link in the infectious etiology theory?

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 infect...

Authors: Simone Bürgler and David Nadal

Abstracts of the 52nd Workshop for Pediatric Research

Authors: 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…

Human perinatal immunity in physiological conditions and during infection

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 ...

Authors: Gijs T. J. van Well, Leonie A. Daalderop, Tim Wolfs and Boris W. Kramer

Role of second-hand smoke (SHS)-induced proteostasis/autophagy impairment in pediatric lung diseases

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 dysfu...

Authors: Neel Patel, Christopher D. Trumph, Manish Bodas and Neeraj Vij

Renal consequences of preterm birth

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 viabilit...

Authors: Amelie Stritzke, Sumesh Thomas, Harish Amin, Christoph Fusch and Abhay Lodha

Acquisition and adaptation of the airway microbiota in the early life of cystic fibrosis patients

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 s...

Authors: Sébastien Boutin and Alexander H. Dalpke

Neutrophil plasticity enables the development of pathological microenvironments: implications for cystic fibrosis airway disease

The pathological course of several chronic inflammatory diseases, including cystic fibrosis, chronic obstructive pulmonary disease, and rheumatoid arthritis, features an aberrant innate immune response dominat...

Authors: Camilla Margaroli and Rabindra Tirouvanziam

Severe changes in colon epithelium in the Mecp2-null mouse model of Rett syndrome

Rett syndrome is best known due to its severe and devastating symptoms in the central nervous system. It is produced by mutations affecting the Mecp2 gene that codes for a transcription factor. Nevertheless, evid...

Authors: Pamela Millar-Büchner, Amber R. Philp, Noemí Gutierrez, Sandra Villanueva, Bredford Kerr and Carlos A. Flores

Wilms’ tumor susceptibility: possible involvement of FOXP3 and CXCL12 genes

Wilms’ tumor is an embryonal neoplasm of the kidney that accounts for approximately 6 % of all childhood tumors. The chemokine CXCL12 (C-X-C chemokine ligand 12) and its ligand CXCR4 (C-X-C chemokine receptor ...

Authors: Patricia Midori Murobushi Ozawa, Carolina Batista Ariza, Roberta Losi-Guembarovski, Alda Losi Guembarovski, Carlos Eduardo Coral de Oliveira, Bruna Karina Banin-Hirata, Marina Okuyama Kishima, Diego Lima Petenuci and Maria Angelica Ehara Watanabe

Leukocyte recruitment in preterm and term infants

Impaired cellular innate immune defense accounts for susceptibility to sepsis and its high morbidity and mortality in preterm infants. Leukocyte recruitment is an integral part of the cellular immune response ...

Authors: Katinka Karenberg, Hannes Hudalla and David Frommhold

Linking bronchopulmonary dysplasia to adult chronic lung diseases: role of WNT signaling

Bronchopulmonary dysplasia (BPD) is one of the most common chronic lung diseases in infants caused by pre- and/or postnatal lung injury. BPD is characterized by arrested alveolarization and vascularization due...

Authors: Chiharu Ota, Hoeke A. Baarsma, Darcy E. Wagner, Anne Hilgendorff and Melanie Königshoff

Transient spontaneous remission in congenital MLL-AF10 rearranged acute myeloid leukemia presenting with cardiorespiratory failure and meconium ileus

Neonatal leukemia is a rare disease with an estimated prevalence of about one to five in a million neonates. The majority being acute myeloid leukemia (AML), neonatal leukemia can present with a variety of sym...

Authors: Tobias Gyárfás, Juergen Wintgens, Wolfgang Biskup, Ilske Oschlies, Wolfram Klapper, Reiner Siebert, Susanne Bens, Claudia Haferlach, Roland Meisel, Michaela Kuhlen and Arndt Borkhardt

The experience of canakinumab in renal amyloidosis secondary to Familial Mediterranean fever

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by self-limited recurrent attacks of fever and serositis. Patients may develop renal amyloidosis. Colchicine prevents attacks ...

Authors: Betul Sozeri, Nesrin Gulez, Malik Ergin and Erkin Serdaroglu

Molecular biology of the gut

Authors: Hassan Y. Naim, Klaus-Peter Zimmer and Buford Nichols

Early origins of asthma (and allergy)

Asthma is the most common chronic disease starting in childhood and persisting into adulthood in many cases. During childhood, different forms of asthma and wheezing disorders exist that can be discriminated b...

Authors: Michael Kabesch

Lung epithelial GM-CSF improves host defense function and epithelial repair in influenza virus pneumonia—a new therapeutic strategy?

Influenza viruses (IVs) circulate seasonally and are a common cause of respiratory infections in pediatric and adult patients. Additionally, recurrent pandemics cause massive morbidity and mortality worldwide....

Authors: Barbara Rösler and Susanne Herold

Vitamin A-retinoid signaling in pulmonary development and disease

Retinoic acid (RA), the active form of vitamin A, regulates key developmental processes in multiple organs. In the developing lung, RA is crucial for normal growth and differentiation of airways. Disruption in...

Authors: Hector A. Marquez and Wellington V. Cardoso

The puzzle of immune phenotypes of childhood asthma

Asthma represents the most common chronic childhood disease worldwide. Whereas preschool children present with wheezing triggered by different factors (multitrigger and viral wheeze), clinical asthma manifesta...

Authors: Katja Landgraf-Rauf, Bettina Anselm and Bianca Schaub

The need for coordination of research activities in pediatric lung diseases

Authors: Harald Ehrhardt and Klaus-Peter Zimmer

Neutrophil elastase and matrix metalloproteinase 12 in cystic fibrosis lung disease

Chronic lung disease remains the major cause of morbidity and mortality in patients with cystic fibrosis (CF). Recent studies in young children with CF diagnosed by newborn screening identified neutrophil elas...

Authors: Claudius J. Wagner, Carsten Schultz and Marcus A. Mall

Early injury of the neonatal lung contributes to premature lung aging: a hypothesis

Chronic lung disease of the newborn, also known as bronchopulmonary dysplasia (BPD), is the most common chronic lung disease in early infancy and results in an increased risk for long-lasting pulmonary impairm...

Authors: Silke Meiners and Anne Hilgendorff

Pathogenesis of bronchopulmonary dysplasia: when inflammation meets organ development

Bronchopulmonary dysplasia is a chronic lung disease of preterm infants. It is caused by the disturbance of physiologic lung development mainly in the saccular stage with lifelong restrictions of pulmonary fun...

Authors: Tayyab Shahzad, Sarah Radajewski, Cho-Ming Chao, Saverio Bellusci and Harald Ehrhardt

Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis

Neonatal lactic acidosis can be associated to severe inborn errors of metabolism. Rapid identification of the underlying disorder may improve the clinical management through reliable counseling of the parents ...

Authors: Walid Fazeli, Mert Karakaya, Peter Herkenrath, Anne Vierzig, Jörg Dötsch, Jürgen-Christoph von Kleist-Retzow and Sebahattin Cirak

Mechanism of human rhinovirus infections

About 150 human rhinovirus serotypes are responsible for more than 50 % of recurrent upper respiratory infections. Despite having similar 3D structures, some bind members of the low-density lipoprotein recepto...

Authors: Dieter Blaas and Renate Fuchs

The cross-talk between enterocytes and intraepithelial lymphocytes

The gut mucosa is continuously exposed to food and microbial antigens. Both enterocytes and intraepithelial lymphocytes have a pivotal role in maintaining the integrity of intestinal mucosa, as these cells gua...

Authors: Serena Vitale, Stefania Picascia and Carmen Gianfrani

MicroRNA in late lung development and bronchopulmonary dysplasia: the need to demonstrate causality

MicroRNA are emerging as powerful regulators of cell differentiation and tissue and organ development. Several microRNA have been described to play a role in branching morphogenesis, a key step in early lung d...

Authors: Claudio Nardiello and Rory E. Morty

Mesenchymal stromal cells in the development and therapy of bronchopulmonary dysplasia

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 foun...

Authors: Marius A. Möbius and Mario Rüdiger

Alveologenesis: key cellular players and fibroblast growth factor 10 signaling

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 epit...

Authors: Cho-Ming Chao, Alena Moiseenko, Klaus-Peter Zimmer and Saverio Bellusci

Inhaled protein/peptide-based therapies for respiratory disease

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 inflam...

Authors: Robert C. Fellner, Shawn T. Terryah and Robert Tarran

Can the preterm lung recover from perinatal stress?

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...

Authors: Matthias C. Hütten, Tim G. A. M. Wolfs and Boris W. Kramer

The impact of hypoxia on intestinal epithelial cell functions: consequences for invasion by bacterial pathogens

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...

Authors: Nathalie E. Zeitouni, Sucheera Chotikatum, Maren von Köckritz-Blickwede and Hassan Y. Naim

Manipulating proteostasis to repair the F508del-CFTR defect in cystic fibrosis

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 concent...

Authors: Speranza Esposito, Antonella Tosco, Valeria R. Villella, Valeria Raia, Guido Kroemer and Luigi Maiuri

Update on host-pathogen interactions in cystic fibrosis lung disease

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 a...

Authors: Andreas Hector, Nina Frey and Dominik Hartl

Underlying molecular and cellular mechanisms in childhood irritable bowel syndrome

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 biopsychosoc...

Authors: Bruno P. Chumpitazi and Robert J. Shulman

Fructose malabsorption

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 pathogene...

Authors: Karolin Ebert and Heiko Witt

Diverse roles of endoplasmic reticulum stress sensors in bacterial infection

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...

Authors: Helena Pillich, Maria Loose, Klaus-Peter Zimmer and Trinad Chakraborty

Endocytosis and transcytosis of gliadin peptides

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 diff...

Authors: M. Vittoria Barone and K. Peter Zimmer

Genetics of irritable bowel syndrome

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...

Authors: Maria Henström and Mauro D’Amato

Mesenchymal stem/stromal cells—a key mediator for regeneration after perinatal morbidity?

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 mo...

Authors: Martin Mueller, Tim G. A. Wolfs, Andreina Schoeberlein, Antonio W. D. Gavilanes, Daniel Surbek and Boris W. Kramer

The clinical consequences of sucrase-isomaltase deficiency

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 ...

Authors: Stanley A. Cohen

Milk glucosidase activity enables suckled pup starch digestion

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...

Authors: 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 and R. Quezada-Calvillo

Towards understanding microvillus inclusion disease

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 mic...

Authors: Georg F. Vogel, Michael W. Hess, Kristian Pfaller, Lukas A. Huber, Andreas R. Janecke and Thomas Müller

The multiple roles of sucrase-isomaltase in the intestinal physiology

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 crucia...

Authors: Birthe Gericke, Mahdi Amiri and Hassan Y. Naim

The role of hypoxia in intestinal inflammation

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 re...

Authors: Yatrik M. Shah

Expression and function of histamine and its receptors in atopic dermatitis

Atopic dermatitis constitutes a most burdensome chronic inflammatory skin disease. Standard treatment is cumbersome and often targets its main symptom, pruritus, only insufficiently.

Authors: M. Albrecht and A. M. Dittrich

Pluripotent stem cells for disease modeling and drug screening: new perspectives for treatment of cystic fibrosis?

Despite continuous improvements in treating clinical symptoms and the identification of single compounds that effectively rescue some rare mutations in the cystic fibrosis transmembrane conductance regulator (...

Authors: Ulrich Martin