Articles
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Citation: Molecular and Cellular Pediatrics 2021 8(Suppl 1):15
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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
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 spas...
Citation: Molecular and Cellular Pediatrics 2021 8:13 -
Correction to: Novel ways to monitor immunosuppression in pediatric kidney transplant recipients—underlying concepts and emerging data
Citation: Molecular and Cellular Pediatrics 2021 8:14 -
How FGF23 shapes multiple organs in chronic kidney disease
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...
Citation: Molecular and Cellular Pediatrics 2021 8:12 -
ESPED survey on newly diagnosed immune thrombocytopenia in childhood: how much treatment do we give?
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 memb...
Citation: Molecular and Cellular Pediatrics 2021 8:11 -
A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene
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 charac...
Citation: Molecular and Cellular Pediatrics 2021 8:10 -
The mutual patterning between the developing nephron and its covering tissues—valid reasons to rethink the search for traces left by impaired nephrogenesis
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 man...
Citation: Molecular and Cellular Pediatrics 2021 8:9 -
Novel ways to monitor immunosuppression in pediatric kidney transplant recipients—underlying concepts and emerging data
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 bacte...
Citation: Molecular and Cellular Pediatrics 2021 8:8 -
Aggressive infantile myofibromatosis with intestinal involvement
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...
Citation: Molecular and Cellular Pediatrics 2021 8:7 -
Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family
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),...
Citation: Molecular and Cellular Pediatrics 2021 8:6 -
Daratumumab therapy for post-HSCT immune-mediated cytopenia: experiences from two pediatric cases and review of literature
Immune-mediated cytopenias (AIC) are challenging complications following allogeneic hematopoietic stem cell transplantation (HSCT). While broad-acting immunosuppressive agents like corticosteroids are often st...
Citation: Molecular and Cellular Pediatrics 2021 8:5 -
Combined RT-qPCR and pyrosequencing of a Spike glycoprotein polybasic cleavage motif can uncover pediatric SARS-CoV-2 infections associated with heterogeneous presentation
Reverse transcription of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (+)RNA genome and subgenomic RNAs (sgRNAs) and subsequent quantitative polymerase chain reaction (RT-qPCR) is the relia...
Citation: Molecular and Cellular Pediatrics 2021 8:4 -
Relationship between adiponectin, TNFα, and SHBG in prepubertal children with obesity
Sex hormone-binding globulin (SHBG) levels are low in adult subjects with obesity when compared to normal-weight individuals. Obesity is associated with higher tumor necrosis factor alpha (TNFα) plasma levels ...
Citation: Molecular and Cellular Pediatrics 2021 8:3 -
Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 0.5–1/100 newborns and as a group they represent the most frequent cause for chronic kidney failure in children. CAKUT comprise clinically ...
Citation: Molecular and Cellular Pediatrics 2021 8:2 -
Targeted deletion of Ruvbl1 results in severe defects of epidermal development and perinatal mortality
Epidermal development is a complex process of regulated cellular proliferation, differentiation, and tightly controlled cell death involving multiple cellular signaling networks. Here, we report a first descri...
Citation: Molecular and Cellular Pediatrics 2021 8:1 -
Asprosin in pregnancy and childhood
Citation: Molecular and Cellular Pediatrics 2020 7:18 -
Impact of early-life diet on long-term renal health
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 pre...
Citation: Molecular and Cellular Pediatrics 2020 7:17 -
Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts’ consensus
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 ...
Citation: Molecular and Cellular Pediatrics 2020 7:16 -
Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency
Rare genetic variations in the leptin-melanocortin signalling pathway can severely impair appetite regulation and cause extreme obesity in early childhood.
Citation: Molecular and Cellular Pediatrics 2020 7:15 -
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
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 infect...
Citation: Molecular and Cellular Pediatrics 2020 7:14 -
A role for the alpha-8 integrin chain (itga8) in glomerular homeostasis of the kidney
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 ...
Citation: Molecular and Cellular Pediatrics 2020 7:13 -
Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report
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 ca...
Citation: Molecular and Cellular Pediatrics 2020 7:11 -
Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy
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 ...
Citation: Molecular and Cellular Pediatrics 2020 7:12 -
Nup133 and ERα mediate the differential effects of hyperoxia-induced damage in male and female OPCs
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...
Citation: Molecular and Cellular Pediatrics 2020 7:10 -
Osteogenesis imperfecta—pathophysiology and therapeutic options
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 symptom...
Citation: Molecular and Cellular Pediatrics 2020 7:9 -
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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 s...
Citation: Molecular and Cellular Pediatrics 2020 7:8 -
DNA methylation biomarkers of future health outcomes in children
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 u...
Citation: Molecular and Cellular Pediatrics 2020 7:7 -
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
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...
Citation: Molecular and Cellular Pediatrics 2020 7:6 -
Pro-inflammatory cytokine ratios determine the clinical course of febrile neutropenia in children receiving chemotherapy
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...
Citation: Molecular and Cellular Pediatrics 2020 7:5 -
Modulation of CYP2E1 metabolic activity in a cohort of confirmed caffeine ingesting pregnant women with preterm offspring
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...
Citation: Molecular and Cellular Pediatrics 2020 7:4 -
Shedding light on pediatric diseases: multispectral optoacoustic tomography at the doorway to clinical applications
Optoacoustic imaging (OAI), or photoacoustic imaging (PAI), has fundamentally influenced basic science by providing high-resolution visualization of biological mechanisms. With the introduction of multispectra...
Citation: Molecular and Cellular Pediatrics 2020 7:3 -
Random X chromosome inactivation in patients with Klinefelter syndrome
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 u...
Citation: Molecular and Cellular Pediatrics 2020 7:1 -
Shaping of the nephron – a complex, vulnerable, and poorly explored backdrop for noxae impairing nephrogenesis in the fetal human kidney
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 weigh...
Citation: Molecular and Cellular Pediatrics 2020 7:2 -
Functional analysis of granulocyte and monocyte subpopulations in neonates
Neonate immune cell functions lack full protection against pathogens. This could be either defect or protective mechanism against overshooting proinflammatory immune responses.
Citation: Molecular and Cellular Pediatrics 2019 6:5 -
Vegetarian diets in childhood and adolescence
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. Whethe...
Citation: Molecular and Cellular Pediatrics 2019 6:4 -
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.)
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 referenc...
Citation: Molecular and Cellular Pediatrics 2019 6:3 -
Complementary foods in baby food pouches: position statement from the Nutrition Commission of the German Society for Pediatrics and Adolescent Medicine (DGKJ, e.V.)
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 c...
Citation: Molecular and Cellular Pediatrics 2019 6:2 -
KUNO-Kids birth cohort study: rationale, design, and cohort description
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 asp...
Citation: Molecular and Cellular Pediatrics 2019 6:1 -
Gene correction of HBB mutations in CD34+ hematopoietic stem cells using Cas9 mRNA and ssODN donors
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 an...
Citation: Molecular and Cellular Pediatrics 2018 5:9 -
Chemotherapy and the pediatric brain
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. Neuro...
Citation: Molecular and Cellular Pediatrics 2018 5:8 -
The role of S100 proteins in the pathogenesis and monitoring of autoinflammatory diseases
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, ...
Citation: Molecular and Cellular Pediatrics 2018 5:7 -
Precision medicine in pediatric oncology
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 ...
Citation: Molecular and Cellular Pediatrics 2018 5:6 -
Anti-inflammatory monocytes—interplay of innate and adaptive immunity
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...
Citation: Molecular and Cellular Pediatrics 2018 5:5 -
Intrauterine growth restriction - impact on cardiovascular diseases later in life
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 wit...
Citation: Molecular and Cellular Pediatrics 2018 5:4 -
The potential of antisense oligonucleotide therapies for inherited childhood lung diseases
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 a...
Citation: Molecular and Cellular Pediatrics 2018 5:3 -
CISH promoter polymorphism effects on T cell cytokine receptor signaling and type 1 diabetes susceptibility
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 SH...
Citation: Molecular and Cellular Pediatrics 2018 5:2 -
Preserved in vitro immunoreactivity in children receiving long-term immunosuppressive therapy due to inflammatory bowel disease or autoimmune hepatitis
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 the...
Citation: Molecular and Cellular Pediatrics 2018 5:1 -
Concepts for a therapeutic prolongation of nephrogenesis in preterm and low-birth-weight babies must correspond to structural-functional properties in the nephrogenic zone
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 bir...
Citation: Molecular and Cellular Pediatrics 2017 4:12 -
The BPD trio? Interaction of dysregulated PDGF, VEGF, and TGF signaling in neonatal chronic lung disease
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 m...
Citation: Molecular and Cellular Pediatrics 2017 4:11 -
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.
Citation: Molecular and Cellular Pediatrics 2017 4:9
- ISSN: 2194-7791 (electronic)